Incidental Mutation 'R6343:Car2'
ID 513985
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 044497-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.467) question?
Stock # R6343 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 14951333-14965830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14953025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 56 (S56P)
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: S56P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029078
Gene: ENSMUSG00000027562
AA Change: S56P

DomainStartEndE-ValueType
Carb_anhydrase 5 259 1.2e-136 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000192609
AA Change: S56P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141876
Gene: ENSMUSG00000027562
AA Change: S56P

DomainStartEndE-ValueType
Carb_anhydrase 5 115 8.2e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195520
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (51/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,205,378 (GRCm39) L301Q probably damaging Het
Adgrl4 T C 3: 151,223,443 (GRCm39) L632P probably damaging Het
Cacna2d1 T A 5: 16,527,562 (GRCm39) I539N probably benign Het
Camta1 T A 4: 151,164,306 (GRCm39) H314L probably damaging Het
Chrm5 G A 2: 112,309,793 (GRCm39) A441V probably damaging Het
Ckap5 T A 2: 91,426,819 (GRCm39) N1380K possibly damaging Het
Cspg4 T C 9: 56,799,976 (GRCm39) V1580A probably benign Het
Dcc A G 18: 71,469,106 (GRCm39) L1099P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epha5 A T 5: 84,254,606 (GRCm39) H644Q probably damaging Het
Eya3 T C 4: 132,400,221 (GRCm39) I80T probably damaging Het
Fdft1 A T 14: 63,388,721 (GRCm39) Y304N probably damaging Het
Fiz1 C T 7: 5,011,400 (GRCm39) A373T possibly damaging Het
Gpatch2l T A 12: 86,307,379 (GRCm39) Y252* probably null Het
Hivep1 G T 13: 42,313,147 (GRCm39) G1796* probably null Het
Irf8 T C 8: 121,480,446 (GRCm39) V228A probably damaging Het
Islr A C 9: 58,064,379 (GRCm39) V376G probably damaging Het
Kdm5a T C 6: 120,359,894 (GRCm39) V230A probably benign Het
Lpgat1 A G 1: 191,508,684 (GRCm39) probably null Het
Lrp8 T C 4: 107,726,353 (GRCm39) probably null Het
Lyzl4 A C 9: 121,407,150 (GRCm39) S127A possibly damaging Het
Map4k1 T C 7: 28,699,715 (GRCm39) V606A possibly damaging Het
Mau2 T A 8: 70,484,173 (GRCm39) K138N probably damaging Het
Meikin T C 11: 54,261,592 (GRCm39) L33P probably damaging Het
Mrpl28 T C 17: 26,345,252 (GRCm39) V224A probably benign Het
Ncdn T C 4: 126,640,964 (GRCm39) D512G possibly damaging Het
Nlrp2 T A 7: 5,303,925 (GRCm39) Q200L possibly damaging Het
Nup98 T C 7: 101,843,957 (GRCm39) N89S possibly damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or14a258 T A 7: 86,035,059 (GRCm39) R270* probably null Het
Or52p2 A G 7: 102,237,753 (GRCm39) C66R probably damaging Het
Or5b12 G T 19: 12,896,946 (GRCm39) H242Q probably damaging Het
Or6c201 A T 10: 128,969,535 (GRCm39) L34* probably null Het
Padi3 C T 4: 140,530,819 (GRCm39) V68I possibly damaging Het
Pign A T 1: 105,512,820 (GRCm39) M621K probably benign Het
Pigv C T 4: 133,392,547 (GRCm39) V208M probably damaging Het
Ripk4 A G 16: 97,564,726 (GRCm39) probably benign Het
Rsf1 A G 7: 97,310,124 (GRCm39) K285E probably benign Het
Serpina3k G C 12: 104,311,562 (GRCm39) G380A probably benign Het
Sorbs1 A G 19: 40,365,426 (GRCm39) probably null Het
Srrd G C 5: 112,487,866 (GRCm39) A104G probably benign Het
Tbp T A 17: 15,721,351 (GRCm39) probably null Het
Tecrl G A 5: 83,442,447 (GRCm39) H209Y probably damaging Het
Tmprss11c A G 5: 86,404,204 (GRCm39) L157P probably damaging Het
Tmprss13 A T 9: 45,254,498 (GRCm39) T422S possibly damaging Het
Ttll5 A G 12: 86,003,473 (GRCm39) H1103R probably benign Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Vldlr A G 19: 27,223,049 (GRCm39) Y699C probably damaging Het
Vmn1r22 T G 6: 57,877,563 (GRCm39) N138T 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
R4681:Car2 UTSW 3 14,960,624 (GRCm39) nonsense probably null
R5677:Car2 UTSW 3 14,963,115 (GRCm39) missense possibly damaging 0.92
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'- TAGAAACACCAGTGGCTTCC -3'
(R):5'- ACATCTCAGCTTTCGGACAC -3'

Sequencing Primer
(F):5'- ACCAGTGGCTTCCGGTGG -3'
(R):5'- CTCAGCTTTCGGACACAAATTG -3'
Posted On 2018-04-27