Incidental Mutation 'IGL01972:Car5a'
ID 181668
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: 0.181) question?
Stock # IGL01972
Quality Score
Status
Chromosome 8
Chromosomal Location 122642874-122671651 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 122653821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000057653
SMART Domains Protein: ENSMUSP00000060457
Gene: ENSMUSG00000025317

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: 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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahr T G 12: 35,554,448 (GRCm39) D557A possibly damaging Het
Akap11 T C 14: 78,745,297 (GRCm39) Q1697R probably damaging Het
Alpi T A 1: 87,027,431 (GRCm39) T312S probably damaging Het
Cacna1b C A 2: 24,525,107 (GRCm39) probably null Het
Cubn T C 2: 13,450,883 (GRCm39) T841A possibly damaging Het
Eml6 A T 11: 29,788,451 (GRCm39) F545I possibly damaging Het
Fam114a2 G A 11: 57,400,220 (GRCm39) T156I probably damaging Het
Fbxl21 C T 13: 56,684,672 (GRCm39) R259* probably null Het
Fhip1b T C 7: 105,039,352 (GRCm39) N5S probably damaging Het
Gm5117 C T 8: 32,227,787 (GRCm39) noncoding transcript Het
Hc T C 2: 34,873,784 (GRCm39) Y1650C probably damaging Het
Med12l C A 3: 59,169,314 (GRCm39) T1568K probably damaging Het
Mtrex T C 13: 113,017,595 (GRCm39) K853E probably damaging Het
Or2ag2b A G 7: 106,417,739 (GRCm39) I150V probably benign Het
Or5g27 T C 2: 85,410,117 (GRCm39) F178S probably damaging Het
Or6n1 G T 1: 173,916,987 (GRCm39) C127F probably damaging Het
Orm3 A G 4: 63,277,563 (GRCm39) S184G probably benign Het
Padi1 A G 4: 140,546,170 (GRCm39) probably benign Het
Rnf133 T C 6: 23,648,988 (GRCm39) T357A probably benign Het
Tmem17 A G 11: 22,467,265 (GRCm39) S60G probably benign Het
Ubqlnl G T 7: 103,798,904 (GRCm39) Q198K probably benign Het
Vmn1r69 A T 7: 10,314,586 (GRCm39) Y48* probably null Het
Zfp658 G A 7: 43,222,134 (GRCm39) W136* probably null Het
Other mutations in Car5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01890:Car5a APN 8 122,650,349 (GRCm39) missense probably benign 0.07
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