Ghr - SNV Details



 Human Rare Diseases 
Laron syndrome
Short stature due to partial GHR deficiency

 Gene Information 
Gene Name Ghr
Old Gene Names for Ghr Aa986417
Gene Description growth hormone receptor [Source:MGI Symbol;Acc:MGI:95708]
MGI phenotype Homozygotes for targeted null mutations exhibit retarded postnatal growth, proportionate dwarfism, decreased plasma insulin-like growth factor I levels, small pituitaries, reduced fecundity in females, and extended life-span.
Uniprot Name
CCDS Name
Gene GO
2-oxoglutarate metabolic process
JAK-STAT cascade
SH2 domain binding
activation of JAK2 kinase activity
activation of MAPK activity
allantoin metabolic process
cartilage development involved in endochondral bone morphogenesis
cell surface
cellular response to hormone stimulus
cellular response to insulin stimulus
citrate metabolic process
Homolog in other species GHR
Omim http://omim.org/entry/600946
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000055737
Chromosome 15
Coordinate 3,328,120     (Assembly: GRCm38)    
Ref Base T
Codon Change tAc/tTc
Var Base A
Zygosity Heterozygous
Read Depth 93
Allele Frequency
T:0.45
A:0.55
Amino Acid Position 222
Amino Acid Change Y->F (Tyrosine -> Phenylalanine)
Sample ID IGL00904
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.03
Polyphen Prediction Benign
Sift Score 0.51
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000069457:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000069457 Superfamily 155
260 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000069457 Prosite_profiles 157
257 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved