Incidental Mutation 'IGL03247:Car2'
ID 414453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car2
Ensembl Gene ENSMUSG00000027562
Gene Name carbonic anhydrase 2
Synonyms CAII, Car-2, CA II, Ltw-5, Lvtw-5
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.467) question?
Stock # IGL03247
Quality Score
Status
Chromosome 3
Chromosomal Location 14951333-14965830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14952999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 47 (L47Q)
Ref Sequence ENSEMBL: ENSMUSP00000141876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029078] [ENSMUST00000192609]
AlphaFold P00920
Predicted Effect probably damaging
Transcript: ENSMUST00000029078
AA Change: L47Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029078
Gene: ENSMUSG00000027562
AA Change: L47Q

DomainStartEndE-ValueType
Carb_anhydrase 5 259 1.2e-136 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000192609
AA Change: L47Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141876
Gene: ENSMUSG00000027562
AA Change: L47Q

DomainStartEndE-ValueType
Carb_anhydrase 5 115 8.2e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195520
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 is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygous mutant mice are growth retarded, display renal tubular acidosis, but mutants have not been recovered that display osteopetrosis as found in human CA-II deficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 56,007,553 (GRCm39) I926F probably damaging Het
Agap3 A G 5: 24,692,820 (GRCm39) N418D probably damaging Het
Alms1 T C 6: 85,655,579 (GRCm39) V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 (GRCm39) M1L possibly damaging Het
Aox4 A G 1: 58,303,526 (GRCm39) D1188G probably damaging Het
Catsper2 A G 2: 121,240,681 (GRCm39) V107A probably benign Het
Catsperg2 T C 7: 29,416,473 (GRCm39) N313S possibly damaging Het
Dolk T C 2: 30,175,523 (GRCm39) Y174C probably damaging Het
Erfe A G 1: 91,298,147 (GRCm39) E219G probably benign Het
Ern2 T C 7: 121,770,894 (GRCm39) E733G probably benign Het
Fam228a A G 12: 4,787,734 (GRCm39) F13S probably damaging Het
Fancd2 T C 6: 113,545,169 (GRCm39) V829A probably benign Het
Gid4 C A 11: 60,323,169 (GRCm39) T87N probably benign Het
H2-Ob A G 17: 34,462,466 (GRCm39) K152R probably benign Het
Ifna2 T A 4: 88,601,614 (GRCm39) T135S probably benign Het
Il1rapl2 G A X: 137,690,429 (GRCm39) G298D probably damaging Het
Mbd1 T A 18: 74,407,825 (GRCm39) L174* probably null Het
Mga T A 2: 119,765,994 (GRCm39) D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 (GRCm39) M54K probably benign Het
Mphosph8 T A 14: 56,916,277 (GRCm39) probably null Het
Mrps23 A G 11: 88,100,922 (GRCm39) probably benign Het
Necab1 C T 4: 14,960,046 (GRCm39) M300I probably benign Het
Nid2 G A 14: 19,829,688 (GRCm39) D660N probably damaging Het
Or2ag12 T A 7: 106,276,754 (GRCm39) H313L probably benign Het
Or9r7 T A 10: 129,962,584 (GRCm39) E114V probably damaging Het
P2ry13 A T 3: 59,117,013 (GRCm39) V255D possibly damaging Het
Peak1 C T 9: 56,165,214 (GRCm39) E905K probably damaging Het
Picalm C A 7: 89,843,499 (GRCm39) Q550K probably benign Het
Rnf103 T A 6: 71,487,289 (GRCm39) V640E possibly damaging Het
Sec31b T G 19: 44,507,379 (GRCm39) K817N possibly damaging Het
Shisal2a A T 4: 108,225,098 (GRCm39) C155S probably benign Het
Skint2 C A 4: 112,483,223 (GRCm39) H209Q probably benign Het
Skint5 T C 4: 113,798,005 (GRCm39) S193G probably damaging Het
Tacr3 A G 3: 134,635,852 (GRCm39) probably benign Het
Tek A G 4: 94,753,680 (GRCm39) M1041V possibly damaging Het
Tm4sf1 A G 3: 57,200,436 (GRCm39) S89P possibly damaging Het
Tusc3 T A 8: 39,597,931 (GRCm39) N299K possibly damaging Het
Washc4 T C 10: 83,400,327 (GRCm39) S418P probably benign Het
Other mutations in Car2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Car2 APN 3 14,960,688 (GRCm39) critical splice donor site probably null
IGL02618:Car2 APN 3 14,963,032 (GRCm39) missense probably benign 0.00
IGL03342:Car2 APN 3 14,960,629 (GRCm39) missense probably benign 0.21
R0257:Car2 UTSW 3 14,965,037 (GRCm39) missense probably benign 0.00
R1260:Car2 UTSW 3 14,960,640 (GRCm39) missense probably damaging 1.00
R4409:Car2 UTSW 3 14,960,162 (GRCm39) missense probably damaging 1.00
R4527:Car2 UTSW 3 14,963,065 (GRCm39) missense probably damaging 1.00
R4681:Car2 UTSW 3 14,960,624 (GRCm39) nonsense probably null
R5677:Car2 UTSW 3 14,963,115 (GRCm39) missense possibly damaging 0.92
R6343:Car2 UTSW 3 14,953,025 (GRCm39) missense probably damaging 1.00
R6530:Car2 UTSW 3 14,961,791 (GRCm39) missense probably benign 0.05
R6786:Car2 UTSW 3 14,951,710 (GRCm39) start gained probably benign
R7010:Car2 UTSW 3 14,965,113 (GRCm39) missense possibly damaging 0.82
R7682:Car2 UTSW 3 14,953,025 (GRCm39) missense probably damaging 1.00
R7805:Car2 UTSW 3 14,965,130 (GRCm39) missense probably benign 0.00
R9086:Car2 UTSW 3 14,952,968 (GRCm39) missense probably benign 0.07
Posted On 2016-08-02