Incidental Mutation 'IGL00863:Car8'
ID 9380
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 # IGL00863
Quality Score
Status
Chromosome 4
Chromosomal Location 8143362-8239041 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 8183251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000063511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066674]
AlphaFold P28651
Predicted Effect probably null
Transcript: ENSMUST00000066674
SMART Domains Protein: ENSMUSP00000063511
Gene: ENSMUSG00000041261

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsn A G 9: 107,992,521 (GRCm39) I1077T probably damaging Het
Ccdc192 A T 18: 57,727,158 (GRCm39) E136V probably damaging Het
Ccny A T 18: 9,345,444 (GRCm39) D143E probably benign Het
Cdh19 A G 1: 110,876,874 (GRCm39) V155A probably damaging Het
Cript T A 17: 87,335,151 (GRCm39) I14N probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Cyria A T 12: 12,409,235 (GRCm39) I72F probably benign Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Fbln5 A G 12: 101,776,175 (GRCm39) V60A probably damaging Het
Fbn1 T A 2: 125,245,139 (GRCm39) E249D possibly damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Grik2 A G 10: 49,232,024 (GRCm39) V502A possibly damaging Het
Heatr1 T C 13: 12,450,009 (GRCm39) V2001A probably benign Het
Il4i1 T A 7: 44,487,470 (GRCm39) Y148* probably null Het
Jmjd4 T C 11: 59,341,569 (GRCm39) S113P probably benign Het
Nceh1 C T 3: 27,295,462 (GRCm39) P241L probably damaging Het
Pals1 A G 12: 78,856,595 (GRCm39) D146G probably damaging Het
Pcdh10 T A 3: 45,334,737 (GRCm39) D350E probably damaging Het
Pdgfrl A G 8: 41,438,571 (GRCm39) E169G probably damaging Het
Ppm1l T A 3: 69,225,283 (GRCm39) D128E probably damaging Het
Rasa1 A G 13: 85,436,548 (GRCm39) V160A probably benign Het
Serf2 T C 2: 121,288,184 (GRCm39) probably null Het
Slitrk1 T A 14: 109,149,269 (GRCm39) N481Y probably damaging Het
Tas2r139 T G 6: 42,118,055 (GRCm39) S62R probably damaging Het
Tdpoz4 A T 3: 93,704,380 (GRCm39) T226S probably benign Het
Tvp23b C A 11: 62,774,464 (GRCm39) A36E probably damaging Het
Upp2 G A 2: 58,680,076 (GRCm39) E301K probably benign Het
Other mutations in Car8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02364:Car8 APN 4 8,183,321 (GRCm39) missense probably benign
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 2012-12-06