Incidental Mutation 'IGL01749:Car1'
ID 153094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car1
Ensembl Gene ENSMUSG00000027556
Gene Name carbonic anhydrase 1
Synonyms Car-1, CA I
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL01749
Quality Score
Status
Chromosome 3
Chromosomal Location 14831274-14873425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14832519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 205 (H205L)
Ref Sequence ENSEMBL: ENSMUSP00000137926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094365] [ENSMUST00000144327] [ENSMUST00000181860]
AlphaFold P13634
Predicted Effect probably benign
Transcript: ENSMUST00000094365
AA Change: H205L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091925
Gene: ENSMUSG00000027556
AA Change: H205L

DomainStartEndE-ValueType
Carb_anhydrase 6 261 2e-133 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144327
SMART Domains Protein: ENSMUSP00000120495
Gene: ENSMUSG00000027556

DomainStartEndE-ValueType
Carb_anhydrase 6 92 2.08e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181860
AA Change: H205L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137926
Gene: ENSMUSG00000027556
AA Change: H205L

DomainStartEndE-ValueType
Carb_anhydrase 6 261 2e-133 SMART
Coding Region Coverage
Validation Efficiency
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,135,050 (GRCm39) E245G probably damaging Het
Bach2 A G 4: 32,580,261 (GRCm39) T829A probably damaging Het
Cmya5 T C 13: 93,225,807 (GRCm39) T3094A probably benign Het
Dctn2 G A 10: 127,117,286 (GRCm39) R380H possibly damaging Het
Flt3 T C 5: 147,294,838 (GRCm39) K411R probably benign Het
Gm5263 T G 1: 146,296,302 (GRCm39) noncoding transcript Het
Hook2 T C 8: 85,719,865 (GRCm39) probably null Het
Iqsec1 G A 6: 90,657,486 (GRCm39) R571C probably benign Het
Lig3 T G 11: 82,680,693 (GRCm39) L421R probably damaging Het
Mtcl2 G T 2: 156,863,461 (GRCm39) probably benign Het
Nipbl A G 15: 8,391,305 (GRCm39) V223A probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or2y12 A T 11: 49,426,944 (GRCm39) R311W probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Reln C A 5: 22,549,244 (GRCm39) E55* probably null Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Ttc22 A G 4: 106,495,800 (GRCm39) T385A probably benign Het
Vmn1r48 A G 6: 90,012,934 (GRCm39) V297A possibly damaging Het
Other mutations in Car1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7477:Car1 UTSW 3 14,841,343 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04