|Institutional Source||Beutler Lab|
|Gene Name||carbonic anhydrase 5a, mitochondrial|
|Is this an essential gene?||Probably non essential (E-score: 0.140)|
|Stock #||R6388 (G1)|
|Chromosomal Location||121916126-121944904 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 121927171 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 118 (Y118C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000060457 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057653] [ENSMUST00000127664]|
|Predicted Effect||probably damaging
AA Change: Y118C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y118C
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.58|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
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||
|Other mutations in Car5a||
(F):5'- AAGGCGACAGTGAGGTCTAGTC -3'
(R):5'- TTTTGCAGCACAGCGATCG -3'
(F):5'- ACAGTGAGGTCTAGTCACCCTGTAG -3'
(R):5'- TGTGTAGAAGGTTGCCCCCATC -3'