|Institutional Source||Beutler Lab|
|Gene Name||crystallin, gamma N|
|Is this an essential gene?||Probably non essential (E-score: 0.061)|
|Stock #||R5199 (G1)|
|Chromosomal Location||24751003-24758008 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 24756158 bp|
|Amino Acid Change||Valine to Alanine at position 50 (V50A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035860 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047119]|
|Predicted Effect||probably damaging
AA Change: V50A
PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: V50A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5062|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the crystallin family of proteins that are localized to the refractive structure of vertebrate eye lenses. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in rhombomeres 3 and 5 derived neurons exhibit reduced MNTB volumne between P4 and P25 with increase in the amplitude of wave IV ABR. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crygn||
(F):5'- CTTCCACTACTTAAGCTGCTGG -3'
(R):5'- TGCTAAGTACACCCATGCAC -3'
(F):5'- CGTGGAGTATCTCACTCA -3'
(R):5'- TGTAGTTCAGCTGGGGCCC -3'