|Institutional Source||Beutler Lab|
|Gene Name||carbonic anhydrase 8|
|Synonyms||CA-RP VIII, Carp, Cals1, wdl|
|Is this an essential gene?||Probably non essential (E-score: 0.068)|
|Stock #||R3849 (G1)|
|Chromosomal Location||8143362-8239041 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 8189353 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 154 (I154F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063511 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066674]|
|Predicted Effect||probably benign
AA Change: I154F
PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
AA Change: I154F
|Meta Mutation Damage Score||0.0868|
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a spontaneous deletion exhibit a wobbly side-to-side gait which is first noted at two weeks of age and persists throughout life. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Car8||
(F):5'- TCAACTCTTGAGAACTGACTGTC -3'
(R):5'- AAGCGCTCTTTGAGACAGCTTC -3'
(F):5'- GAGAACTGACTGTCAAATTATGAGC -3'
(R):5'- AGACAGCTTCTCCTGGGG -3'