Incidental Mutation 'IGL01972:Car5a'
ID181668
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car5a
Ensembl Gene ENSMUSG00000025317
Gene Namecarbonic anhydrase 5a, mitochondrial
SynonymsCar5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL01972
Quality Score
Status
Chromosome8
Chromosomal Location121916126-121944904 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 121927082 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000060457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057653] [ENSMUST00000127664]
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: 35,504,449 D557A possibly damaging Het
Akap11 T C 14: 78,507,857 Q1697R probably damaging Het
Alpi T A 1: 87,099,709 T312S probably damaging Het
Cacna1b C A 2: 24,635,095 probably null Het
Cubn T C 2: 13,446,072 T841A possibly damaging Het
Eml6 A T 11: 29,838,451 F545I possibly damaging Het
Fam114a2 G A 11: 57,509,394 T156I probably damaging Het
Fam160a2 T C 7: 105,390,145 N5S probably damaging Het
Fbxl21 C T 13: 56,536,859 R259* probably null Het
Gm5117 C T 8: 31,737,759 noncoding transcript Het
Hc T C 2: 34,983,772 Y1650C probably damaging Het
Med12l C A 3: 59,261,893 T1568K probably damaging Het
Olfr429 G T 1: 174,089,421 C127F probably damaging Het
Olfr701 A G 7: 106,818,532 I150V probably benign Het
Olfr996 T C 2: 85,579,773 F178S probably damaging Het
Orm3 A G 4: 63,359,326 S184G probably benign Het
Padi1 A G 4: 140,818,859 probably benign Het
Rnf133 T C 6: 23,648,989 T357A probably benign Het
Skiv2l2 T C 13: 112,881,061 K853E probably damaging Het
Tmem17 A G 11: 22,517,265 S60G probably benign Het
Ubqlnl G T 7: 104,149,697 Q198K probably benign Het
Vmn1r69 A T 7: 10,580,659 Y48* probably null Het
Zfp658 G A 7: 43,572,710 W136* probably null Het
Other mutations in Car5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01890:Car5a APN 8 121923610 missense probably benign 0.07
R0152:Car5a UTSW 8 121916446 missense probably damaging 1.00
R0562:Car5a UTSW 8 121944730 missense probably benign 0.00
R0699:Car5a UTSW 8 121944816 unclassified probably benign
R1827:Car5a UTSW 8 121923808 missense probably benign 0.00
R2274:Car5a UTSW 8 121944669 critical splice donor site probably null
R4261:Car5a UTSW 8 121944749 missense probably benign 0.03
R5436:Car5a UTSW 8 121917242 intron probably benign
R5869:Car5a UTSW 8 121916380 missense probably benign
R5937:Car5a UTSW 8 121939821 missense probably damaging 1.00
R6388:Car5a UTSW 8 121927171 missense probably damaging 1.00
R6803:Car5a UTSW 8 121923765 critical splice donor site probably null
R7369:Car5a UTSW 8 121923834 missense probably benign 0.01
Posted On2014-05-07