Col1a2 - SNV Details



 Human Rare Diseases 
Ehlers-Danlos/osteogenesis imperfecta syndrome
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Osteogenesis imperfecta type 3
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Osteogenesis imperfecta type 1

 Gene Information 
Gene Name Col1a2
Old Gene Names for Col1a2 Aa960264 , Ai325291 , Col1a-2 , Cola-2 , Cola2
Gene Description collagen, type I, alpha 2 [Source:MGI Symbol;Acc:MGI:88468]
MGI phenotype Animals homozygous for a mutation in this gene exhibit reduced body size, reduced bone density and cortical bone thickness, fractured and deformed long bones, dorsal kyphosis, and droopy wrists. Older mutants develop an abnormal gait.
Uniprot Name
CCDS Name
Gene GO
bridging
Rho protein signal transduction
SMAD binding
blood vessel development
collagen
collagen fibril organization
collagen type I
extracellular matrix
extracellular matrix structural constituent
extracellular region
extracellular space
Homolog in other species COL1A2
Omim http://omim.org/entry/120160
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000029661
Chromosome 6
Coordinate 4,531,095     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 28
Allele Frequency
C:0.32
T:0.68
Amino Acid Change Disrupted splicing
Sample ID IGL00839
Median Base Quality 38.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved