|Institutional Source||Beutler Lab|
|Gene Name||carbonic anhydrase 5b, mitochondrial|
|Synonyms||D730005F19Rik, CAVB, 7330410H16Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0546 (G1)|
|Chromosomal Location||163976822-164027997 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 163979301 bp|
|Amino Acid Change||Arginine to Cysteine at position 282 (R282C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033739 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033739]|
|Predicted Effect||probably damaging
AA Change: R282C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R282C
|Meta Mutation Damage Score||0.6032|
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
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 VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either homozygous or hemizygous for a knock-out allele exhibit normal survival and show no detectable differences in blood ammonia or fasting glucose levels relative to control littermates. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Car5b||
(F):5'- GTCTCCCGGTCTTTGCTTTACAAGAG -3'
(R):5'- TGCTGTCACACAACCATGCCAG -3'
(F):5'- TTTGAAATGTTACCCAAAAAAGGAAG -3'
(R):5'- ggaaacagaagggggtgg -3'