Incidental Mutation 'R5441:Car1'
ID 427164
Institutional Source Beutler Lab
Gene Symbol Car1
Ensembl Gene ENSMUSG00000027556
Gene Name carbonic anhydrase 1
Synonyms Car-1, CA I
MMRRC Submission 043006-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R5441 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 14831274-14873425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 14841364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 90 (R90G)
Ref Sequence ENSEMBL: ENSMUSP00000137926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094365] [ENSMUST00000144327] [ENSMUST00000181860]
AlphaFold P13634
Predicted Effect probably damaging
Transcript: ENSMUST00000094365
AA Change: R90G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091925
Gene: ENSMUSG00000027556
AA Change: R90G

DomainStartEndE-ValueType
Carb_anhydrase 6 261 2e-133 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000144327
AA Change: R24G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120495
Gene: ENSMUSG00000027556
AA Change: R24G

DomainStartEndE-ValueType
Carb_anhydrase 6 92 2.08e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000181860
AA Change: R90G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137926
Gene: ENSMUSG00000027556
AA Change: R90G

DomainStartEndE-ValueType
Carb_anhydrase 6 261 2e-133 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: This locus controls electrophoretic variation in red blood cells. The a allele determines a slow migrating form in C57BL/6, C3H/He and other strains; the b allele determines a fast form in IS/Cam, WB/Re, SM, M. m. castaneus and M. m. molossinus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,334,215 (GRCm39) Y1096H probably damaging Het
Aspa A T 11: 73,196,420 (GRCm39) F261I probably damaging Het
Atm C A 9: 53,427,767 (GRCm39) G448* probably null Het
Atmin T A 8: 117,684,696 (GRCm39) D785E probably damaging Het
Cdh11 T C 8: 103,374,178 (GRCm39) D520G probably benign Het
Cers5 T A 15: 99,649,119 (GRCm39) K50* probably null Het
Chad A T 11: 94,459,118 (GRCm39) D340V probably benign Het
Cspg5 T C 9: 110,075,711 (GRCm39) I68T probably benign Het
Fcgbpl1 C T 7: 27,856,339 (GRCm39) T2042M probably damaging Het
Fcrla T A 1: 170,752,991 (GRCm39) probably benign Het
Fer1l4 T A 2: 155,865,177 (GRCm39) D1608V probably benign Het
Fzd5 T A 1: 64,774,576 (GRCm39) Q395L probably benign Het
Gm7664 T A 13: 62,676,464 (GRCm39) probably benign Het
Hk3 T C 13: 55,162,869 (GRCm39) E2G probably damaging Het
Hmcn2 G A 2: 31,296,428 (GRCm39) E2677K possibly damaging Het
Hydin T C 8: 111,291,741 (GRCm39) L3411P possibly damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Lysmd2 C T 9: 75,533,254 (GRCm39) H70Y possibly damaging Het
Msi2 A G 11: 88,370,818 (GRCm39) probably benign Het
Msi2 G A 11: 88,608,921 (GRCm39) probably benign Het
Napsa T A 7: 44,230,817 (GRCm39) probably benign Het
Nlrp4a T A 7: 26,153,578 (GRCm39) L710M probably damaging Het
Or10g1 T A 14: 52,647,414 (GRCm39) K305M probably benign Het
Or12d13 T C 17: 37,647,159 (GRCm39) probably null Het
Or5m13 T A 2: 85,748,934 (GRCm39) F222I probably benign Het
Or6ae1 T C 7: 139,742,564 (GRCm39) T100A probably benign Het
Or9a2 C T 6: 41,748,782 (GRCm39) M150I probably benign Het
Plbd2 T A 5: 120,637,147 (GRCm39) Y105F probably benign Het
Plppr5 A T 3: 117,456,120 (GRCm39) I214F possibly damaging Het
Pramel34 A T 5: 93,784,456 (GRCm39) M139K possibly damaging Het
Ptcd3 A G 6: 71,858,505 (GRCm39) V655A possibly damaging Het
Ptpn14 T C 1: 189,530,767 (GRCm39) L78P probably damaging Het
Ralgapa1 A C 12: 55,766,408 (GRCm39) D1295E probably damaging Het
Rnf213 G A 11: 119,299,846 (GRCm39) D192N probably damaging Het
Ropn1 A G 16: 34,487,167 (GRCm39) I34M probably damaging Het
Rpe65 G T 3: 159,310,038 (GRCm39) G104C probably damaging Het
Scgb2b27 T C 7: 33,712,582 (GRCm39) probably benign Het
Sh3bgr T C 16: 96,007,117 (GRCm39) I29T possibly damaging Het
Smg1 T C 7: 117,794,304 (GRCm39) probably benign Het
Stim2 T A 5: 54,232,712 (GRCm39) C68* probably null Het
Syne2 G A 12: 76,035,917 (GRCm39) V3736I possibly damaging Het
Tbx19 T C 1: 164,981,249 (GRCm39) N82D probably damaging Het
Tdp1 T A 12: 99,876,544 (GRCm39) V353D probably damaging Het
Tg T A 15: 66,568,369 (GRCm39) I1352K possibly damaging Het
Thsd4 T C 9: 59,887,066 (GRCm39) T919A probably damaging Het
Tmprss11f A T 5: 86,676,062 (GRCm39) M373K probably damaging Het
Tmprss15 T A 16: 78,868,335 (GRCm39) probably null Het
Tpd52 A T 3: 9,068,466 (GRCm39) Y16* probably null Het
Ube2o G A 11: 116,435,268 (GRCm39) R507C probably damaging Het
Unc93b1 T C 19: 3,993,703 (GRCm39) F382L probably benign Het
Vav2 A T 2: 27,160,122 (GRCm39) probably benign Het
Vmn1r207 T C 13: 22,910,686 (GRCm39) noncoding transcript Het
Zan T A 5: 137,435,013 (GRCm39) I2127F unknown Het
Zfp748 C A 13: 67,688,737 (GRCm39) C841F probably damaging Het
Zic4 C A 9: 91,266,253 (GRCm39) P299Q probably damaging Het
Other mutations in Car1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01749:Car1 APN 3 14,832,519 (GRCm39) missense probably benign 0.00
IGL02975:Car1 APN 3 14,842,882 (GRCm39) missense probably benign 0.31
R0432:Car1 UTSW 3 14,835,236 (GRCm39) missense probably benign 0.03
R1637:Car1 UTSW 3 14,842,846 (GRCm39) missense possibly damaging 0.81
R2244:Car1 UTSW 3 14,835,912 (GRCm39) missense possibly damaging 0.50
R5036:Car1 UTSW 3 14,841,299 (GRCm39) missense possibly damaging 0.86
R5038:Car1 UTSW 3 14,835,933 (GRCm39) missense probably damaging 1.00
R7477:Car1 UTSW 3 14,841,343 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTCTGACCTTTGAAGCGTTC -3'
(R):5'- AACATAATCAGGAAGGCACTGTATG -3'

Sequencing Primer
(F):5'- ACCTTTGAAGCGTTCTGAGAG -3'
(R):5'- TCAGGAAGGCACTGTATGTATAATAG -3'
Posted On 2016-09-01