Incidental Mutation 'R1260:Car2'
ID 151571
Institutional Source Beutler Lab
Gene Symbol Car2
Ensembl Gene ENSMUSG00000027562
Gene Name carbonic anhydrase 2
Synonyms CAII, Car-2, CA II, Ltw-5, Lvtw-5
MMRRC Submission 039327-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.467) question?
Stock # R1260 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 14951333-14965830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14960640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 133 (A133T)
Ref Sequence ENSEMBL: ENSMUSP00000029078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029078] [ENSMUST00000192609]
AlphaFold P00920
Predicted Effect probably damaging
Transcript: ENSMUST00000029078
AA Change: A133T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029078
Gene: ENSMUSG00000027562
AA Change: A133T

DomainStartEndE-ValueType
Carb_anhydrase 5 259 1.2e-136 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192609
SMART Domains Protein: ENSMUSP00000141876
Gene: ENSMUSG00000027562

DomainStartEndE-ValueType
Carb_anhydrase 5 115 8.2e-13 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.6%
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl9 T C 11: 49,060,371 (GRCm39) E374G probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cpa6 T C 1: 10,395,544 (GRCm39) probably null Het
Iqgap3 A G 3: 88,021,330 (GRCm39) H462R probably benign Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Med7 C G 11: 46,331,460 (GRCm39) I18M probably damaging Het
Mertk A G 2: 128,604,072 (GRCm39) K402R probably benign Het
Myh7 T A 14: 55,225,908 (GRCm39) I478F probably benign Het
Or14j10 T A 17: 37,934,594 (GRCm39) T311S probably benign Het
Pdp2 T C 8: 105,321,249 (GRCm39) V366A probably damaging Het
Plin4 A T 17: 56,411,348 (GRCm39) C894* probably null Het
Plxnc1 A G 10: 94,667,227 (GRCm39) V1149A probably damaging Het
Rassf9 G A 10: 102,348,446 (GRCm39) probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Stab1 T C 14: 30,873,846 (GRCm39) D984G probably damaging Het
Usp45 T C 4: 21,826,204 (GRCm39) S675P probably damaging 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
IGL03247:Car2 APN 3 14,952,999 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCATTGCTCTTGAAGTGATAAGCTGC -3'
(R):5'- GCTGATATTGAACCACCTAGAGCCACC -3'

Sequencing Primer
(F):5'- TGAAGTGATAAGCTGCTATAACCAG -3'
(R):5'- TAGCATCAGAAGCATTTCCTCAGAG -3'
Posted On 2014-01-29