|Institutional Source||Beutler Lab|
|Gene Name||crystallin, beta A2|
|Is this an essential gene?||Probably non essential (E-score: 0.117)|
|Stock #||R1079 (G1)|
|Chromosomal Location||74889934-74893143 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 74890558 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 140 (V140E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006721 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006721] [ENSMUST00000133833]|
|Predicted Effect||probably damaging
AA Change: V140E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V140E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.526|
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
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 the vertebrate eye, which function to maintain 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 defined 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. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous or homozygous for an ENU-induced allele exhibit small lens and cataracts. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cryba2||
(F):5'- GCTTTTCCAGCTAAGGACAGCCAAC -3'
(R):5'- AGGAGGGCCTGATCTATCCACAAAC -3'
(F):5'- GAGCCTGGTTTCTACATGCAC -3'
(R):5'- CTGATCTATCCACAAACCTCCC -3'