Incidental Mutation 'R4681:Car2'
ID 350014
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 042015-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.467) question?
Stock # R4681 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 14951333-14965830 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 14960624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 127 (Y127*)
Ref Sequence ENSEMBL: ENSMUSP00000029078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029078] [ENSMUST00000192609]
AlphaFold P00920
Predicted Effect probably null
Transcript: ENSMUST00000029078
AA Change: Y127*
SMART Domains Protein: ENSMUSP00000029078
Gene: ENSMUSG00000027562
AA Change: Y127*

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
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 G T 1: 179,580,361 (GRCm39) T1947K probably benign Het
Ak9 A C 10: 41,303,234 (GRCm39) K1669T unknown Het
Atp4b T C 8: 13,439,700 (GRCm39) E174G probably benign Het
Bcl6 A G 16: 23,787,203 (GRCm39) probably benign Het
Brca2 C G 5: 150,475,863 (GRCm39) probably null Het
Btnl4 A T 17: 34,689,075 (GRCm39) probably null Het
C4a G T 17: 35,036,075 (GRCm39) noncoding transcript Het
Cab39l A G 14: 59,737,054 (GRCm39) D58G probably benign Het
Cacna2d3 A T 14: 29,015,092 (GRCm39) M100K probably damaging Het
Cdhr1 T C 14: 36,818,194 (GRCm39) N86S probably benign Het
Celsr3 A G 9: 108,704,953 (GRCm39) I479V possibly damaging Het
Cfhr1 A T 1: 139,478,667 (GRCm39) Y53* probably null Het
Cgrrf1 A G 14: 47,091,283 (GRCm39) E269G probably benign Het
Cimap3 C A 3: 105,905,701 (GRCm39) G148C probably damaging Het
Clcn7 A T 17: 25,376,935 (GRCm39) H636L probably damaging Het
Cox10 T G 11: 63,867,277 (GRCm39) T240P possibly damaging Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dbt A G 3: 116,326,963 (GRCm39) D104G probably damaging Het
F730035P03Rik T C 7: 99,429,425 (GRCm39) noncoding transcript Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam186b T C 15: 99,178,771 (GRCm39) K185R probably benign Het
Fat4 T C 3: 38,941,491 (GRCm39) L128P probably damaging Het
Gbf1 A T 19: 46,268,989 (GRCm39) Q1381L probably benign Het
Glp2r C T 11: 67,621,453 (GRCm39) probably null Het
Gm18025 A G 12: 34,340,884 (GRCm39) S70P probably benign Het
Gpr45 A G 1: 43,072,068 (GRCm39) D237G probably benign Het
Hectd4 A T 5: 121,441,678 (GRCm39) L1213F possibly damaging Het
Hydin T C 8: 111,233,103 (GRCm39) V1734A possibly damaging Het
Kcnh5 A T 12: 75,054,397 (GRCm39) S516T probably benign Het
Liph A C 16: 21,802,777 (GRCm39) S97R probably benign Het
Mtcl1 T C 17: 66,756,139 (GRCm39) T68A unknown Het
Nsun7 T A 5: 66,418,542 (GRCm39) S91T probably benign Het
Or5an10 T C 19: 12,276,413 (GRCm39) T28A probably benign Het
Or6c75 A G 10: 129,337,433 (GRCm39) I227V probably damaging Het
Pcdh20 A T 14: 88,705,052 (GRCm39) N749K probably damaging Het
Pot1b A T 17: 55,961,831 (GRCm39) D582E probably benign Het
Pxdn T C 12: 30,062,325 (GRCm39) I1212T probably benign Het
Ramp1 T C 1: 91,124,511 (GRCm39) V24A probably benign Het
S100a8 T A 3: 90,576,890 (GRCm39) D14E probably benign Het
Stk31 A G 6: 49,414,369 (GRCm39) D501G probably benign Het
Tbc1d19 G A 5: 54,029,595 (GRCm39) V319M probably damaging Het
Tbcel G T 9: 42,361,268 (GRCm39) H93Q probably damaging Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Trpm8 A T 1: 88,312,427 (GRCm39) I1103F possibly damaging Het
Ttc19 T A 11: 62,199,917 (GRCm39) C112* probably null Het
Unc5c T G 3: 141,474,374 (GRCm39) probably null Het
Urb1 A T 16: 90,601,425 (GRCm39) H115Q probably damaging Het
Vmn2r15 T A 5: 109,434,488 (GRCm39) I739F probably damaging Het
Zcchc14 G T 8: 122,335,339 (GRCm39) probably benign Het
Zfp408 G A 2: 91,476,131 (GRCm39) P341L probably damaging Het
Zfp638 G A 6: 83,958,719 (GRCm39) V1166M possibly 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
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
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'- TGCTCTTGAAGTGATAAGCTGC -3'
(R):5'- CTCAGAGTTTTGTAGAATGTTCTCC -3'

Sequencing Primer
(F):5'- TGAAGTGATAAGCTGCTATAACCAG -3'
(R):5'- ATAAATATTCTGCCTAGTCAATCACC -3'
Posted On 2015-10-08