Incidental Mutation 'IGL01890:Car5a'
ID 179232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car5a
Ensembl Gene ENSMUSG00000025317
Gene Name carbonic anhydrase 5a, mitochondrial
Synonyms Car5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # IGL01890
Quality Score
Status
Chromosome 8
Chromosomal Location 122642874-122671651 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122650349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 182 (A182V)
Ref Sequence ENSEMBL: ENSMUSP00000060457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057653] [ENSMUST00000127664]
AlphaFold P23589
PDB Structure MURINE MITOCHONDRIAL CARBONIC ANYHDRASE V AT 2.45 ANGSTROMS RESOLUTION [X-RAY DIFFRACTION]
COMPLEX BETWEEN MURINE MITOCHONDRIAL CARBONIC ANYHDRASE V AND THE TRANSITION STATE ANALOGUE ACETAZOLAMIDE [X-RAY DIFFRACTION]
Crystal Structure of F65A/Y131C Carbonic Anhydrase V, covalently modified with 4-chloromethylimidazole [X-RAY DIFFRACTION]
MURINE CARBONIC ANHYDRASE V [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000057653
AA Change: A182V

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000060457
Gene: ENSMUSG00000025317
AA Change: A182V

DomainStartEndE-ValueType
Carb_anhydrase 27 290 6.61e-125 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151462
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. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, hyperammonemia, and increased levels of urinary metabolites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A T 12: 80,231,642 (GRCm39) V265E probably damaging Het
Anks1b A G 10: 90,480,389 (GRCm39) I865V probably benign Het
Ccdc47 A G 11: 106,096,277 (GRCm39) V249A probably damaging Het
Cyb561d2 A G 9: 107,418,722 (GRCm39) V34A probably damaging Het
Dmbt1 A G 7: 130,676,149 (GRCm39) probably benign Het
Entpd6 G A 2: 150,612,612 (GRCm39) D445N possibly damaging Het
Fastkd2 A G 1: 63,771,320 (GRCm39) I225M probably benign Het
Flcn A G 11: 59,685,996 (GRCm39) V424A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpn3 A G 5: 122,519,328 (GRCm39) M176V probably benign Het
Igkv12-38 C T 6: 69,920,389 (GRCm39) C43Y probably damaging Het
Oas1h A G 5: 121,000,852 (GRCm39) probably null Het
Rexo1 A T 10: 80,378,845 (GRCm39) Y1064N possibly damaging Het
Skint1 G A 4: 111,867,878 (GRCm39) G2R probably damaging Het
Slc4a9 G A 18: 36,662,760 (GRCm39) A172T possibly damaging Het
Synpo2 A G 3: 122,906,146 (GRCm39) S727P probably damaging Het
Tmem131 A T 1: 36,862,237 (GRCm39) probably benign Het
Trpm3 G T 19: 22,689,083 (GRCm39) R4L probably damaging Het
Upf1 A T 8: 70,786,880 (GRCm39) V879E possibly damaging Het
Vmn1r194 A T 13: 22,428,776 (GRCm39) Y131F probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r95 T A 17: 18,671,737 (GRCm39) N491K probably damaging Het
Other mutations in Car5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01972:Car5a APN 8 122,653,821 (GRCm39) critical splice donor site probably null
R0152:Car5a UTSW 8 122,643,185 (GRCm39) missense probably damaging 1.00
R0562:Car5a UTSW 8 122,671,469 (GRCm39) missense probably benign 0.00
R0699:Car5a UTSW 8 122,671,555 (GRCm39) unclassified probably benign
R1827:Car5a UTSW 8 122,650,547 (GRCm39) missense probably benign 0.00
R2274:Car5a UTSW 8 122,671,408 (GRCm39) critical splice donor site probably null
R4261:Car5a UTSW 8 122,671,488 (GRCm39) missense probably benign 0.03
R5436:Car5a UTSW 8 122,643,981 (GRCm39) intron probably benign
R5869:Car5a UTSW 8 122,643,119 (GRCm39) missense probably benign
R5937:Car5a UTSW 8 122,666,560 (GRCm39) missense probably damaging 1.00
R6388:Car5a UTSW 8 122,653,910 (GRCm39) missense probably damaging 1.00
R6803:Car5a UTSW 8 122,650,504 (GRCm39) critical splice donor site probably null
R7369:Car5a UTSW 8 122,650,573 (GRCm39) missense probably benign 0.01
R8919:Car5a UTSW 8 122,671,519 (GRCm39) missense probably benign
Z1177:Car5a UTSW 8 122,643,112 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07