Incidental Mutation 'R4861:Car3'
ID 374287
Institutional Source Beutler Lab
Gene Symbol Car3
Ensembl Gene ENSMUSG00000027559
Gene Name carbonic anhydrase 3
Synonyms Car-3
MMRRC Submission 042472-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4861 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 14928598-14937441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14931956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 109 (V109A)
Ref Sequence ENSEMBL: ENSMUSP00000029076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029076]
AlphaFold P16015
Predicted Effect probably damaging
Transcript: ENSMUST00000029076
AA Change: V109A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029076
Gene: ENSMUSG00000027559
AA Change: V109A

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
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 87.7%
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
Abcb11 C T 2: 69,076,249 (GRCm39) R1153H probably damaging Het
Ahcy T C 2: 154,902,436 (GRCm39) E411G probably benign Het
Alpi T A 1: 87,028,191 (GRCm39) I211F probably damaging Het
Arfgef3 G A 10: 18,483,479 (GRCm39) A1415V probably benign Het
Bora T C 14: 99,284,910 (GRCm39) probably null Het
Cdk13 A T 13: 17,941,171 (GRCm39) V17D probably damaging Het
Cept1 A C 3: 106,413,048 (GRCm39) S226A probably damaging Het
Dbt A T 3: 116,341,727 (GRCm39) I443L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Farp2 T C 1: 93,533,141 (GRCm39) L633S probably damaging Het
Gm26727 T C 2: 67,263,289 (GRCm39) I79M probably damaging Het
Gm5800 T A 14: 51,953,504 (GRCm39) N37I probably damaging Het
Hapln1 G A 13: 89,749,571 (GRCm39) G39S possibly damaging Het
Ice2 T A 9: 69,322,730 (GRCm39) S408R probably benign Het
Lctl T C 9: 64,027,045 (GRCm39) I131T possibly damaging Het
Ncoa7 T A 10: 30,580,608 (GRCm39) M117L probably benign Het
Npy4r C T 14: 33,868,840 (GRCm39) W149* probably null Het
Nr5a2 A G 1: 136,876,458 (GRCm39) probably null Het
Odad1 A G 7: 45,592,297 (GRCm39) E359G probably damaging Het
Plg G A 17: 12,614,622 (GRCm39) E301K probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Rapgef2 T C 3: 78,981,743 (GRCm39) K1084R probably benign Het
Slc41a2 T C 10: 83,152,322 (GRCm39) Q51R probably damaging Het
Slc47a2 A T 11: 61,227,059 (GRCm39) C170S probably benign Het
Slco1b2 A T 6: 141,616,948 (GRCm39) N427I possibly damaging Het
Smc2 G A 4: 52,461,090 (GRCm39) R571H probably benign Het
Sp4 G T 12: 118,264,546 (GRCm39) probably null Het
Tas2r117 T C 6: 132,780,092 (GRCm39) F77L probably benign Het
Tbcd C T 11: 121,492,787 (GRCm39) R875C probably damaging Het
Thumpd2 A G 17: 81,334,230 (GRCm39) S453P probably benign Het
Vars2 G T 17: 35,972,825 (GRCm39) Q13K probably benign Het
Other mutations in Car3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Car3 APN 3 14,933,439 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- GACATCTTTTATCCACAGAGTCATG -3'
(R):5'- AGGATGCTAACCCACTTGCC -3'

Sequencing Primer
(F):5'- CCACAGAGTCATGTTTCAAGACTTG -3'
(R):5'- GCCCACTTCTCTCTGACCTAG -3'
Posted On 2016-03-01