|Institutional Source||Beutler Lab|
|Gene Name||crystallin, gamma B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4466 (G1)|
|Chromosomal Location||65080219-65082288 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 65080486 bp|
|Amino Acid Change||Serine to Proline at position 112 (S112P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027090 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027090]|
|Predicted Effect||probably damaging
AA Change: S112P
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: S112P
|Meta Mutation Damage Score||0.6150|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes and heterozygotes for a spontaneous mutation exhibit cataracts characterized by nuclear and polar opacity with vacuoles and a reduction in lens weight. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crygb||
(F):5'- CTCGCCTAAAAGAGCCAACTTTG -3'
(R):5'- TCTGTACCGAGCTTGTTCTG -3'
(F):5'- AACTTTGGCATTTGCAGCC -3'
(R):5'- ACCGAGCTTGTTCTGAATGCAG -3'