|Institutional Source||Beutler Lab|
|Gene Name||carbonic anhydrase 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6273 (G1)|
|Chromosomal Location||14863512-14872523 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 14871617 bp|
|Amino Acid Change||Proline to Serine at position 247 (P247S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029076 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029076]|
|Predicted Effect||probably benign
AA Change: P247S
PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
AA Change: P247S
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||98% (78/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and exhibit a normal life span and a normal response to hyperoxic challenge. Mutant muscles display shorter half-relaxation times for both single and tetanic twitches but show normal fatigability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Car3||
(F):5'- TCTGAGAGCAGGGAATTCTGG -3'
(R):5'- GTCAAAAGGCACTGCGGTTG -3'
(F):5'- AGAAACGGTCTATGTTATGAGCTG -3'
(R):5'- GGTTGCATGTGACTGCTTCTCC -3'