Incidental Mutation 'IGL00330:Car3'
ID 6928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car3
Ensembl Gene ENSMUSG00000027559
Gene Name carbonic anhydrase 3
Synonyms Car-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00330
Quality Score
Status
Chromosome 3
Chromosomal Location 14928598-14937441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14933439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 128 (N128Y)
Ref Sequence ENSEMBL: ENSMUSP00000029076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029076]
AlphaFold P16015
Predicted Effect probably benign
Transcript: ENSMUST00000029076
AA Change: N128Y

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029076
Gene: ENSMUSG00000027559
AA Change: N128Y

DomainStartEndE-ValueType
Carb_anhydrase 5 259 2.72e-135 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195834
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and exhibit a normal life span and a normal response to hyperoxic challenge. Mutant muscles display shorter half-relaxation times for both single and tetanic twitches but show normal fatigability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik T G 1: 192,857,087 (GRCm39) D146E probably benign Het
Alpi A T 1: 87,027,442 (GRCm39) L308Q probably damaging Het
Bhmt2 A T 13: 93,803,279 (GRCm39) probably benign Het
Bsn T C 9: 107,992,539 (GRCm39) E1071G probably damaging Het
Cdkl2 C T 5: 92,165,236 (GRCm39) probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cul9 T C 17: 46,821,767 (GRCm39) probably benign Het
Gpr149 T G 3: 62,438,094 (GRCm39) I688L probably damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Kif19a G A 11: 114,670,411 (GRCm39) G107D probably damaging Het
Loxhd1 A C 18: 77,483,146 (GRCm39) R1242S probably damaging Het
Ms4a6c T C 19: 11,455,676 (GRCm39) Y162H probably benign Het
Msrb2 G T 2: 19,376,510 (GRCm39) R6L unknown Het
Myh2 A G 11: 67,084,266 (GRCm39) N1630D probably benign Het
Myrf A G 19: 10,201,877 (GRCm39) V200A probably benign Het
Ncor2 A G 5: 125,119,807 (GRCm39) probably null Het
Nrg1 T A 8: 32,308,117 (GRCm39) Q621L probably damaging Het
Or11h6 G A 14: 50,880,625 (GRCm39) A296T probably benign Het
Or5bw2 A T 7: 6,573,667 (GRCm39) I226F possibly damaging Het
Pfkp A G 13: 6,669,586 (GRCm39) F211S probably damaging Het
Pramex1 T C X: 134,515,258 (GRCm39) N273S probably benign Het
Prss1l T C 6: 41,371,707 (GRCm39) L51P probably damaging Het
Pwwp3b A G X: 138,136,443 (GRCm39) D327G probably damaging Het
Rnh1 G A 7: 140,746,644 (GRCm39) A49V possibly damaging Het
Serhl C T 15: 82,988,574 (GRCm39) S167F probably benign Het
Skint1 T C 4: 111,878,777 (GRCm39) probably null Het
Taar7b A C 10: 23,876,740 (GRCm39) I302L probably benign Het
Tasor2 A G 13: 3,624,832 (GRCm39) F1706S probably benign Het
Zfp106 G A 2: 120,369,978 (GRCm39) P15S probably benign Het
Zfp385b T C 2: 77,307,122 (GRCm39) Q167R probably damaging Het
Zfp800 T A 6: 28,243,037 (GRCm39) T643S probably benign Het
Other mutations in Car3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02423:Car3 APN 3 14,931,911 (GRCm39) missense probably damaging 1.00
R0624:Car3 UTSW 3 14,931,864 (GRCm39) missense probably benign 0.16
R1775:Car3 UTSW 3 14,929,492 (GRCm39) missense probably benign 0.01
R4861:Car3 UTSW 3 14,931,956 (GRCm39) missense probably damaging 0.99
R4861:Car3 UTSW 3 14,931,956 (GRCm39) missense probably damaging 0.99
R5856:Car3 UTSW 3 14,936,701 (GRCm39) missense probably damaging 1.00
R6273:Car3 UTSW 3 14,936,677 (GRCm39) missense probably benign 0.14
R7481:Car3 UTSW 3 14,928,632 (GRCm39) start codon destroyed probably benign 0.41
R7666:Car3 UTSW 3 14,935,124 (GRCm39) missense probably benign
R8922:Car3 UTSW 3 14,931,952 (GRCm39) missense
R9355:Car3 UTSW 3 14,928,664 (GRCm39) missense
R9424:Car3 UTSW 3 14,929,450 (GRCm39) missense
Z1177:Car3 UTSW 3 14,936,696 (GRCm39) missense
Posted On 2012-04-20