Car4 - SNV Details



 Gene Information 
Gene Name Car4
Old Gene Names for Car4 Aw456718
Gene Description carbonic anhydrase 4 [Source:MGI Symbol;Acc:MGI:1096574]
MGI phenotype Homozygous null mice are produced in lower than expected numbers, with females preferentially lost in the fetal or early postnatal period. Surviving homozygotes are healthy and fertile when crossed with wild-type partners; however, homozygous intercrosses yield small litters and pups do not survive.
Uniprot Name
CCDS Name
Gene GO
transport vesicle membrane; perinuclear region of cytoplasm; trans-Golgi network; rough endoplasmic reticulum; response to steroid hormone stimulus; membrane; sarcoplasmic reticulum; apical plasma membrane; sarcolemma; bicarbonate transport; zinc ion binding; protein binding; cell surface; anchored to plasma membrane; brush border membrane; endoplasmic reticulum-Golgi intermediate compartment; response to drug; organ development; one-carbon metabolic process; plasma membrane part; anchored to external side of plasma membrane; carbonate dehydratase activity; Golgi apparatus; secretory granule membrane
Homolog in other species CA4
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
LOW/MEDIAN(HIGH IN LARGEINTESTINE, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000000805
Chromosome 11
Coordinate 84,965,767     (Assembly: GRCm38)    
Ref Base C
Codon Change Ccc/Tcc
Var Base T
Zygosity Heterozygous
Read Depth 101
Allele Frequency
C:R0.53
T:V0.46
Amino Acid Position 294
Amino Acid Change P->S (Proline -> Serine)
Sample ID IGL02353
Median Base Quality 35
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.26
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved