Incidental Mutation 'R0257:Car2'
ID 34771
Institutional Source Beutler Lab
Gene Symbol Car2
Ensembl Gene ENSMUSG00000027562
Gene Name carbonic anhydrase 2
Synonyms Car-2, Ltw-5, CAII, Lvtw-5, CA II
MMRRC Submission 038488-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R0257 (G1)
Quality Score 175
Status Validated
Chromosome 3
Chromosomal Location 14886273-14900770 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to G at 14899977 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Aspartic acid at position 224 (H224D)
Ref Sequence ENSEMBL: ENSMUSP00000029078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029078] [ENSMUST00000192609]
AlphaFold P00920
Predicted Effect probably benign
Transcript: ENSMUST00000029078
AA Change: H224D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029078
Gene: ENSMUSG00000027562
AA Change: H224D

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 0.0898 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.2%
Validation Efficiency 99% (67/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik T A 17: 56,885,169 Y577* probably null Het
Aatf T A 11: 84,510,281 E171D probably benign Het
Adgre5 T A 8: 83,731,995 H134L possibly damaging Het
Ahsg A T 16: 22,899,040 M256L probably benign Het
Alk A T 17: 72,603,495 L72Q probably damaging Het
Ano2 C A 6: 125,880,713 A505E probably benign Het
Bcas3 A G 11: 85,822,039 K908E probably benign Het
C3ar1 A G 6: 122,850,787 V157A probably benign Het
Cfh T C 1: 140,144,035 D287G probably benign Het
Disp3 G T 4: 148,250,754 N944K possibly damaging Het
Dlg1 A G 16: 31,842,853 probably benign Het
Dmbt1 A G 7: 131,106,393 E1281G probably damaging Het
Dmxl1 T A 18: 49,955,803 probably benign Het
Dtx3 T C 10: 127,192,892 D159G probably benign Het
Ets2 T A 16: 95,712,201 C140* probably null Het
Fbf1 T C 11: 116,155,091 I226V probably benign Het
Fgd6 T A 10: 94,043,915 H210Q probably benign Het
Fktn A G 4: 53,734,898 T179A probably benign Het
Galnt10 T C 11: 57,781,078 M398T probably damaging Het
Grk5 G T 19: 61,076,630 probably benign Het
Gse1 A G 8: 120,572,334 probably benign Het
Hmcn2 T C 2: 31,369,164 probably benign Het
Iqgap2 A G 13: 95,724,544 probably null Het
Lama4 T C 10: 39,094,884 probably benign Het
Luzp2 A G 7: 55,249,446 T271A probably benign Het
Mdn1 T A 4: 32,693,534 V1053D probably damaging Het
Mrm1 A C 11: 84,814,823 probably benign Het
Msh5 G C 17: 35,032,864 R407G probably damaging Het
Myo1c A T 11: 75,665,516 probably null Het
Nek5 T C 8: 22,123,672 probably benign Het
Nrxn2 A G 19: 6,490,698 I894V possibly damaging Het
Olfr372 C T 8: 72,058,400 T240M probably damaging Het
Pde4a C T 9: 21,192,421 P175L probably damaging Het
Pip5k1c C A 10: 81,315,096 A628E possibly damaging Het
Piwil2 C T 14: 70,422,631 S139N probably benign Het
Prob1 T C 18: 35,653,039 K721E possibly damaging Het
Rps6ka2 C A 17: 7,227,983 S57Y probably damaging Het
Rxfp1 C T 3: 79,682,535 V100M possibly damaging Het
Serpinb9e A T 13: 33,257,681 M199L probably benign Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc4a8 G A 15: 100,784,880 probably benign Het
Sned1 A T 1: 93,265,097 S369C possibly damaging Het
St18 T A 1: 6,819,962 F539L probably benign Het
Stam2 C T 2: 52,694,782 G500D possibly damaging Het
Stx16 G A 2: 174,096,961 V307M probably benign Het
Svep1 G A 4: 58,179,610 S211L possibly damaging Het
Tcf12 C T 9: 71,858,622 S512N probably benign Het
Tiam2 T C 17: 3,450,813 V909A possibly damaging Het
Tmem64 C T 4: 15,266,343 A131V probably damaging Het
Tnrc6b C A 15: 80,894,355 N1176K possibly damaging Het
Trrap C T 5: 144,804,235 S1264L probably benign Het
Ttn T A 2: 76,810,431 T13658S possibly damaging Het
Vmn2r104 G A 17: 20,029,627 T794I probably damaging Het
Vmn2r52 T A 7: 10,171,055 R286* probably null Het
Vps53 A T 11: 76,177,385 probably benign Het
Wdr18 A G 10: 79,961,119 probably benign Het
Wdr31 A G 4: 62,460,518 probably null Het
Zfp458 T A 13: 67,259,642 K47* probably null Het
Zfp983 A G 17: 21,661,440 T95A probably benign Het
Other mutations in Car2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Car2 APN 3 14895628 critical splice donor site probably null
IGL02618:Car2 APN 3 14897972 missense probably benign 0.00
IGL03247:Car2 APN 3 14887939 missense probably damaging 1.00
IGL03342:Car2 APN 3 14895569 missense probably benign 0.21
R1260:Car2 UTSW 3 14895580 missense probably damaging 1.00
R4409:Car2 UTSW 3 14895102 missense probably damaging 1.00
R4527:Car2 UTSW 3 14898005 missense probably damaging 1.00
R4681:Car2 UTSW 3 14895564 nonsense probably null
R5677:Car2 UTSW 3 14898055 missense possibly damaging 0.92
R6343:Car2 UTSW 3 14887965 missense probably damaging 1.00
R6530:Car2 UTSW 3 14896731 missense probably benign 0.05
R6786:Car2 UTSW 3 14886650 start gained probably benign
R7010:Car2 UTSW 3 14900053 missense possibly damaging 0.82
R7682:Car2 UTSW 3 14887965 missense probably damaging 1.00
R7805:Car2 UTSW 3 14900070 missense probably benign 0.00
R9086:Car2 UTSW 3 14887908 missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AAATCTTCCCACCATGCTGACGAG -3'
(R):5'- TTAGCTACAGAGAGGCGGTCACAC -3'

Sequencing Primer
(F):5'- CTAAGTCAGACTTGTGAGACTCCAG -3'
(R):5'- AGGCGGTCACACTTGTGC -3'
Posted On 2013-05-09