Incidental Mutation 'R5856:Car3'
ID 454896
Institutional Source Beutler Lab
Gene Symbol Car3
Ensembl Gene ENSMUSG00000027559
Gene Name carbonic anhydrase 3
Synonyms Car-3
MMRRC Submission 043230-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5856 (G1)
Quality Score 111
Status Not validated
Chromosome 3
Chromosomal Location 14928598-14937441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14936701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 255 (V255M)
Ref Sequence ENSEMBL: ENSMUSP00000029076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029076]
AlphaFold P16015
Predicted Effect probably damaging
Transcript: ENSMUST00000029076
AA Change: V255M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029076
Gene: ENSMUSG00000027559
AA Change: V255M

DomainStartEndE-ValueType
Carb_anhydrase 5 259 2.72e-135 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195834
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.2%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Adgrf5 A G 17: 43,757,011 (GRCm39) T497A probably benign Het
Ano5 T C 7: 51,235,074 (GRCm39) I669T probably benign Het
Arhgap11a A T 2: 113,664,116 (GRCm39) N722K possibly damaging Het
Atm A T 9: 53,407,255 (GRCm39) I1161K possibly damaging Het
Atp13a4 T C 16: 29,252,805 (GRCm39) T714A possibly damaging Het
BC051665 T A 13: 60,932,314 (GRCm39) M92L probably benign Het
Cnot11 C A 1: 39,576,534 (GRCm39) F179L probably benign Het
Dctn1 A G 6: 83,174,847 (GRCm39) Y1013C probably damaging Het
Gm19965 A G 1: 116,749,579 (GRCm39) D420G probably benign Het
Gm5444 A G 13: 4,821,683 (GRCm39) noncoding transcript Het
Hydin A T 8: 111,268,474 (GRCm39) D2946V probably damaging Het
Hyou1 C T 9: 44,292,641 (GRCm39) R119C probably damaging Het
Ighm A T 12: 113,385,222 (GRCm39) L246Q unknown Het
Itpr3 A G 17: 27,325,379 (GRCm39) E1324G probably damaging Het
Loxl4 G T 19: 42,583,805 (GRCm39) Q749K possibly damaging Het
Muc2 C A 7: 141,299,381 (GRCm39) probably benign Het
Myh11 T C 16: 14,023,840 (GRCm39) T1505A probably benign Het
Nsmce2 A G 15: 59,250,792 (GRCm39) E21G probably damaging Het
Or13c3 T A 4: 52,856,516 (GRCm39) probably benign Het
Or4c115 T A 2: 88,928,254 (GRCm39) I6F probably benign Het
Plaa A G 4: 94,471,724 (GRCm39) I375T probably benign Het
Pou2f1 C T 1: 165,742,699 (GRCm39) A65T probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rxfp1 T A 3: 79,570,620 (GRCm39) N271Y possibly damaging Het
Sema5b T G 16: 35,466,756 (GRCm39) Y219* probably null Het
Slc35f3 G T 8: 127,047,819 (GRCm39) R53L probably benign Het
Slc44a5 T C 3: 153,964,029 (GRCm39) V465A possibly damaging Het
Slc9a5 A G 8: 106,083,797 (GRCm39) I446V possibly damaging Het
Slf1 A T 13: 77,254,206 (GRCm39) D204E possibly damaging Het
Sox5 T A 6: 144,155,088 (GRCm39) T3S probably damaging Het
Srr G A 11: 74,803,838 (GRCm39) R40C possibly damaging Het
Tas2r115 T A 6: 132,714,501 (GRCm39) H150L possibly damaging Het
Tet2 A G 3: 133,192,401 (GRCm39) S678P probably benign Het
Tmem11 T C 11: 60,755,684 (GRCm39) K183E probably damaging Het
Upf1 T C 8: 70,787,412 (GRCm39) probably null Het
Xpo6 A T 7: 125,748,674 (GRCm39) probably benign Het
Zfp638 C T 6: 83,954,047 (GRCm39) S1384L probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging 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
R4861:Car3 UTSW 3 14,931,956 (GRCm39) missense probably damaging 0.99
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'- TCTGGATGTAAGAAACGGTCTATG -3'
(R):5'- ATCATGTCAAAAGGCACTGCG -3'

Sequencing Primer
(F):5'- CTGGGGCTTACAAACTCAGGAC -3'
(R):5'- TCAAAAGGCACTGCGGTTGC -3'
Posted On 2017-02-10