Incidental Mutation 'R7477:Car1'
ID 579531
Institutional Source Beutler Lab
Gene Symbol Car1
Ensembl Gene ENSMUSG00000027556
Gene Name carbonic anhydrase 1
Synonyms Car-1, CA I
MMRRC Submission 045551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R7477 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 14831274-14873425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14841343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 97 (H97Y)
Ref Sequence ENSEMBL: ENSMUSP00000091925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094365] [ENSMUST00000144327] [ENSMUST00000181860]
AlphaFold P13634
Predicted Effect probably damaging
Transcript: ENSMUST00000094365
AA Change: H97Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091925
Gene: ENSMUSG00000027556
AA Change: H97Y

DomainStartEndE-ValueType
Carb_anhydrase 6 261 2e-133 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000144327
AA Change: H31Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120495
Gene: ENSMUSG00000027556
AA Change: H31Y

DomainStartEndE-ValueType
Carb_anhydrase 6 92 2.08e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000181860
AA Change: H97Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137926
Gene: ENSMUSG00000027556
AA Change: H97Y

DomainStartEndE-ValueType
Carb_anhydrase 6 261 2e-133 SMART
Meta Mutation Damage Score 0.9445 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 G T 5: 35,749,447 (GRCm39) E191* probably null Het
Adam26a T A 8: 44,022,107 (GRCm39) E461V probably damaging Het
Adamtsl1 G A 4: 86,333,888 (GRCm39) R1539Q probably damaging Het
Adipor2 A T 6: 119,338,883 (GRCm39) H123Q probably benign Het
Akap13 C T 7: 75,398,995 (GRCm39) S2691L probably benign Het
Aldh1l1 T C 6: 90,575,369 (GRCm39) probably null Het
Ankrd11 A T 8: 123,621,124 (GRCm39) S909R possibly damaging Het
Bop1 T C 15: 76,339,526 (GRCm39) E273G probably damaging Het
Casp14 T C 10: 78,550,138 (GRCm39) N170S probably benign Het
Ccdc158 A T 5: 92,798,555 (GRCm39) L382M probably damaging Het
Ccdc18 A C 5: 108,368,716 (GRCm39) Q1279H probably damaging Het
Cdh18 A G 15: 23,410,811 (GRCm39) N432S probably benign Het
Ctdp1 T C 18: 80,483,929 (GRCm39) probably null Het
Dhx30 A G 9: 109,916,208 (GRCm39) I691T probably damaging Het
Dnah9 A G 11: 65,883,557 (GRCm39) I2562T probably damaging Het
Dsp A T 13: 38,356,839 (GRCm39) I240F probably damaging Het
Ell T C 8: 71,037,868 (GRCm39) S308P probably benign Het
Elmo1 A G 13: 20,469,489 (GRCm39) D26G Het
Fam171a1 T C 2: 3,226,676 (GRCm39) V603A probably benign Het
Fam83e G A 7: 45,378,404 (GRCm39) G476D probably damaging Het
Farp2 A G 1: 93,508,750 (GRCm39) probably null Het
Fcer1a C T 1: 173,048,851 (GRCm39) probably null Het
Gpr179 G T 11: 97,226,665 (GRCm39) T1830K possibly damaging Het
Grin3a G A 4: 49,719,278 (GRCm39) P823S probably damaging Het
Heatr4 T A 12: 84,026,604 (GRCm39) I218F probably damaging Het
Il36rn T A 2: 24,169,704 (GRCm39) Y21* probably null Het
Jakmip1 A G 5: 37,330,915 (GRCm39) T532A probably benign Het
Klf11 A G 12: 24,703,562 (GRCm39) D16G probably benign Het
Lrp1 T A 10: 127,404,789 (GRCm39) I1971F probably damaging Het
Lrrc9 T A 12: 72,550,301 (GRCm39) probably null Het
Lrrk2 C T 15: 91,696,528 (GRCm39) L2439F probably damaging Het
Lypd10 A G 7: 24,413,673 (GRCm39) T230A probably benign Het
Mapk14 G A 17: 28,964,052 (GRCm39) D313N probably damaging Het
Max A T 12: 76,999,960 (GRCm39) S52T probably benign Het
Mrpl23 A G 7: 142,091,018 (GRCm39) R80G possibly damaging Het
Muc5ac C A 7: 141,370,019 (GRCm39) N3186K possibly damaging Het
Mylk2 G A 2: 152,762,261 (GRCm39) V511I probably damaging Het
Mypn T C 10: 62,961,500 (GRCm39) M1031V possibly damaging Het
Nbeal1 A G 1: 60,300,743 (GRCm39) T1488A probably benign Het
Ncbp1 A T 4: 46,157,897 (GRCm39) E378D probably damaging Het
Nedd9 A T 13: 41,471,956 (GRCm39) D174E probably benign Het
Nid2 T A 14: 19,856,041 (GRCm39) D1255E probably benign Het
Nlrc3 A G 16: 3,782,675 (GRCm39) C261R probably damaging Het
Or5w22 A G 2: 87,362,431 (GRCm39) N18S probably benign Het
Pgam1 T A 19: 41,905,255 (GRCm39) H196Q probably damaging Het
Pja2 A C 17: 64,616,640 (GRCm39) V85G possibly damaging Het
Pkd2 G A 5: 104,631,108 (GRCm39) V511M probably benign Het
Ppp2cb T A 8: 34,105,502 (GRCm39) S171T probably benign Het
Prkab2 T C 3: 97,566,063 (GRCm39) F45S probably damaging Het
Rabep2 A T 7: 126,043,990 (GRCm39) probably null Het
Rnf41 T A 10: 128,271,303 (GRCm39) I71N probably damaging Het
Slc5a7 G A 17: 54,588,787 (GRCm39) P287S probably damaging Het
Smc6 A G 12: 11,321,808 (GRCm39) D25G probably benign Het
Sptb A T 12: 76,675,339 (GRCm39) L225Q probably damaging Het
Tenm4 A C 7: 96,495,015 (GRCm39) I1148L probably damaging Het
Tnk2 C A 16: 32,496,709 (GRCm39) probably null Het
Trank1 G A 9: 111,194,025 (GRCm39) S683N probably benign Het
Trp53bp1 A C 2: 121,066,827 (GRCm39) V633G probably benign Het
Ugt2a3 T C 5: 87,484,479 (GRCm39) K182E possibly damaging Het
Uncx A T 5: 139,533,017 (GRCm39) T361S probably benign Het
Vmn2r11 A T 5: 109,207,214 (GRCm39) N35K possibly damaging Het
Vmn2r4 C A 3: 64,305,850 (GRCm39) R524L probably benign Het
Vmn2r5 C T 3: 64,399,060 (GRCm39) V640M probably damaging Het
Washc4 T C 10: 83,410,307 (GRCm39) Y632H probably damaging Het
Xkr6 T C 14: 63,844,129 (GRCm39) S51P possibly damaging Het
Zer1 C A 2: 29,997,988 (GRCm39) K408N probably null Het
Znhit2 A G 19: 6,112,501 (GRCm39) probably null 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
R5441:Car1 UTSW 3 14,841,364 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATTGCAAATTATGGTGTACTGTG -3'
(R):5'- ATAACTTTGGCACCCACTGATG -3'

Sequencing Primer
(F):5'- TTAGGCATTCATATAACGACCAGC -3'
(R):5'- GTTTATTTCCATCGTGCACAAGG -3'
Posted On 2019-10-07