|Institutional Source||Beutler Lab|
|Synonyms||A930011D15Rik, LOC381317, A930037M10Rik, LOC269160, Usherin, MUSH2A|
|Is this an essential gene?||Possibly essential (E-score: 0.543)|
|Stock #||R2395 (G1)|
|Chromosomal Location||188262023-188965041 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 188947040 bp|
|Amino Acid Change||Threonine to Isoleucine at position 4815 (T4815I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050454 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060479]|
|Predicted Effect||probably damaging
AA Change: T4815I
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T4815I
|Meta Mutation Damage Score||0.2911|
|Coding Region Coverage||
|Validation Efficiency||100% (30/30)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ush2a||
(F):5'- GTACCATCTCTGACATGTGACAGTC -3'
(R):5'- AAAGCTGCTCAAACGCGTG -3'
(F):5'- GACATGTGACAGTCTCATCTGGC -3'
(R):5'- GCTCAAACGCGTGCTTTG -3'