|Institutional Source||Beutler Lab|
|Gene Name||carcinoembryonic antigen-related cell adhesion molecule 16|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3975 (G1)|
|Chromosomal Location||19852097-19861299 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 19853612 bp (GRCm38)|
|Amino Acid Change||Glutamine to Histidine at position 410 (Q410H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000014830 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014830] [ENSMUST00000172815] [ENSMUST00000208198]|
AA Change: Q410H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Q410H
|Meta Mutation Damage Score||0.2095|
|Coding Region Coverage||
|Validation Efficiency||95% (59/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired hearing at low and high frequencies. Mice homozygous for a different knock-out allele show altered tectorial membrane structure and enhanced spontaneous, stimulus-frequency, and transiently evoked otoacoustic emissions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ceacam16||
(F):5'- GTATACCTTGGTGGACGTCATC -3'
(R):5'- CTGCTAGTCTATGCCTGGTATCG -3'
(F):5'- CGTCATCGTTTGAGAGGCAAG -3'
(R):5'- CTATGCCTGGTATCGTGGACC -3'