Incidental Mutation 'IGL02364:Car8'
ID 290664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car8
Ensembl Gene ENSMUSG00000041261
Gene Name carbonic anhydrase 8
Synonyms wdl, Carp, CA-RP VIII, Cals1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02364
Quality Score
Status
Chromosome 4
Chromosomal Location 8143362-8239041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8183321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 225 (I225V)
Ref Sequence ENSEMBL: ENSMUSP00000063511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066674]
AlphaFold P28651
Predicted Effect probably benign
Transcript: ENSMUST00000066674
AA Change: I225V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063511
Gene: ENSMUSG00000041261
AA Change: I225V

DomainStartEndE-ValueType
Carb_anhydrase 30 290 1.32e-110 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a spontaneous deletion exhibit a wobbly side-to-side gait which is first noted at two weeks of age and persists throughout life. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdp1 A T 13: 100,191,816 (GRCm39) probably benign Het
Cc2d2a T A 5: 43,892,792 (GRCm39) N1390K probably damaging Het
Coasy T C 11: 100,975,184 (GRCm39) V247A possibly damaging Het
Dgkq A G 5: 108,804,310 (GRCm39) V50A probably benign Het
Dixdc1 A T 9: 50,593,931 (GRCm39) probably benign Het
Dmxl2 G A 9: 54,301,127 (GRCm39) A2328V probably benign Het
Exoc3l C A 8: 106,017,209 (GRCm39) V593L possibly damaging Het
Eya3 T C 4: 132,437,366 (GRCm39) S409P probably damaging Het
Garin4 T C 1: 190,895,713 (GRCm39) N310S probably benign Het
Gbp4 A T 5: 105,284,740 (GRCm39) S50T probably damaging Het
Gm5885 A G 6: 133,507,092 (GRCm39) noncoding transcript Het
H2ap G T X: 9,713,629 (GRCm39) probably benign Het
Igkv12-89 A T 6: 68,811,970 (GRCm39) Y66* probably null Het
Itgax G A 7: 127,739,154 (GRCm39) V601M possibly damaging Het
Kank3 T C 17: 34,037,824 (GRCm39) V291A probably benign Het
Klhl9 A G 4: 88,639,407 (GRCm39) M278T probably damaging Het
Lrrc43 G A 5: 123,639,275 (GRCm39) D435N possibly damaging Het
Ly75 A T 2: 60,188,851 (GRCm39) S292T probably damaging Het
Mchr1 G A 15: 81,121,480 (GRCm39) V77I probably benign Het
Mga T A 2: 119,794,535 (GRCm39) C2622S possibly damaging Het
Neb G T 2: 52,186,266 (GRCm39) Y935* probably null Het
Nt5el T A 13: 105,218,808 (GRCm39) D47E probably damaging Het
Phf20 A G 2: 156,136,017 (GRCm39) E612G possibly damaging Het
Pkhd1 A G 1: 20,271,007 (GRCm39) L3182P probably benign Het
Rnf130 T C 11: 49,986,667 (GRCm39) V337A probably benign Het
Slfn10-ps T C 11: 82,923,117 (GRCm39) noncoding transcript Het
Sorcs1 G A 19: 50,322,036 (GRCm39) P249L probably damaging Het
Spata13 C T 14: 60,928,723 (GRCm39) R94C probably damaging Het
Stk38 C T 17: 29,210,390 (GRCm39) R63Q probably benign Het
Tmem220 C A 11: 66,925,014 (GRCm39) H174N probably benign Het
Tmem68 C A 4: 3,560,536 (GRCm39) R216L probably damaging Het
Trim29 G A 9: 43,222,599 (GRCm39) V143M probably benign Het
Ubqln2 T C X: 152,282,906 (GRCm39) L486P possibly damaging Het
Usp17le G A 7: 104,417,982 (GRCm39) Q387* probably null Het
Vps33b A G 7: 79,937,587 (GRCm39) E445G probably damaging Het
Other mutations in Car8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Car8 APN 4 8,183,251 (GRCm39) critical splice donor site probably null
IGL01506:Car8 APN 4 8,169,761 (GRCm39) missense probably damaging 0.98
IGL01679:Car8 APN 4 8,169,674 (GRCm39) missense possibly damaging 0.73
IGL02698:Car8 APN 4 8,185,598 (GRCm39) missense probably benign 0.01
Burp UTSW 4 8,185,650 (GRCm39) splice site probably null
fizzwater UTSW 4 8,169,686 (GRCm39) missense probably damaging 1.00
R0723:Car8 UTSW 4 8,169,703 (GRCm39) missense probably benign 0.03
R0893:Car8 UTSW 4 8,238,119 (GRCm39) splice site probably null
R1451:Car8 UTSW 4 8,189,327 (GRCm39) missense probably benign 0.09
R1676:Car8 UTSW 4 8,185,616 (GRCm39) missense probably damaging 1.00
R1796:Car8 UTSW 4 8,221,671 (GRCm39) nonsense probably null
R3849:Car8 UTSW 4 8,189,353 (GRCm39) missense probably benign 0.14
R3915:Car8 UTSW 4 8,184,576 (GRCm39) splice site probably benign
R4078:Car8 UTSW 4 8,169,731 (GRCm39) missense possibly damaging 0.49
R4717:Car8 UTSW 4 8,169,685 (GRCm39) missense probably damaging 1.00
R6484:Car8 UTSW 4 8,189,362 (GRCm39) missense probably benign 0.11
R6981:Car8 UTSW 4 8,185,650 (GRCm39) splice site probably null
R7745:Car8 UTSW 4 8,237,939 (GRCm39) missense possibly damaging 0.67
R7832:Car8 UTSW 4 8,238,860 (GRCm39) missense possibly damaging 0.95
R8459:Car8 UTSW 4 8,189,302 (GRCm39) missense probably benign
R8755:Car8 UTSW 4 8,238,083 (GRCm39) missense probably benign 0.09
R9140:Car8 UTSW 4 8,183,270 (GRCm39) missense probably benign 0.00
R9272:Car8 UTSW 4 8,169,686 (GRCm39) missense probably damaging 1.00
Z1177:Car8 UTSW 4 8,221,594 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16