Incidental Mutation 'R9407:Cryba2'
ID 711571
Institutional Source Beutler Lab
Gene Symbol Cryba2
Ensembl Gene ENSMUSG00000006546
Gene Name crystallin, beta A2
Synonyms E130107M19Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R9407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 74929093-74932302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74932037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 4 (A4S)
Ref Sequence ENSEMBL: ENSMUSP00000006721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006721] [ENSMUST00000133833]
AlphaFold Q9JJV1
Predicted Effect probably benign
Transcript: ENSMUST00000006721
AA Change: A4S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000006721
Gene: ENSMUSG00000006546
AA Change: A4S

DomainStartEndE-ValueType
XTALbg 13 98 1.64e-37 SMART
XTALbg 107 195 8.79e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133833
AA Change: A4S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140298
Gene: ENSMUSG00000006546
AA Change: A4S

DomainStartEndE-ValueType
XTALbg 13 54 3.2e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype 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
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik T C 14: 64,223,629 (GRCm39) Y49C probably damaging Het
Abca6 A T 11: 110,093,210 (GRCm39) L1021* probably null Het
Abcc9 A G 6: 142,574,229 (GRCm39) S1003P possibly damaging Het
Aldh4a1 A G 4: 139,372,345 (GRCm39) I505V probably benign Het
Brwd1 T C 16: 95,803,693 (GRCm39) D2159G possibly damaging Het
C1s2 T C 6: 124,602,454 (GRCm39) I586V probably benign Het
Cd300e C A 11: 114,946,171 (GRCm39) D97Y probably damaging Het
Celsr3 A G 9: 108,723,596 (GRCm39) D2877G probably damaging Het
Cep41 T C 6: 30,655,841 (GRCm39) N328D probably benign Het
Cldn15 G A 5: 137,003,765 (GRCm39) V227M probably damaging Het
Clec10a T G 11: 70,060,155 (GRCm39) I98S probably damaging Het
Cpne4 A G 9: 104,749,963 (GRCm39) Q89R probably damaging Het
Csmd2 G A 4: 128,442,613 (GRCm39) A3222T Het
Dapk1 C A 13: 60,898,991 (GRCm39) Y820* probably null Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Entrep3 C A 3: 89,094,645 (GRCm39) A416D possibly damaging Het
Gar1 A G 3: 129,620,608 (GRCm39) Y160H probably damaging Het
Gm21834 T A 17: 58,048,863 (GRCm39) I118L probably benign Het
Gtf2a1l G A 17: 89,001,531 (GRCm39) G129D probably damaging Het
Gzmb T A 14: 56,497,712 (GRCm39) Y176F probably benign Het
Helz2 T G 2: 180,881,975 (GRCm39) K273Q probably benign Het
Ifi207 T A 1: 173,555,234 (GRCm39) E816V probably damaging Het
Insr A C 8: 3,235,106 (GRCm39) D694E probably benign Het
Insyn2b G A 11: 34,352,072 (GRCm39) R38Q probably damaging Het
Ipcef1 A T 10: 6,870,036 (GRCm39) C172* probably null Het
Itgal T G 7: 126,921,796 (GRCm39) probably null Het
Laptm5 A T 4: 130,655,990 (GRCm39) M103L Het
Lypd4 A T 7: 24,566,160 (GRCm39) C55S probably null Het
Mccc1 A C 3: 36,030,865 (GRCm39) H400Q possibly damaging Het
Myl4 C T 11: 104,474,887 (GRCm39) R79W probably damaging Het
Myo18a A G 11: 77,709,596 (GRCm39) T569A probably benign Het
Or14a259 G C 7: 86,013,194 (GRCm39) S117* probably null Het
Or4c117 T A 2: 88,955,629 (GRCm39) T149S probably benign Het
Or5ak24 A G 2: 85,261,060 (GRCm39) S38P probably damaging Het
Otof T A 5: 30,538,265 (GRCm39) D1153V probably damaging Het
Pcdha12 A T 18: 37,153,614 (GRCm39) D111V probably damaging Het
Pomt2 G T 12: 87,157,146 (GRCm39) F724L probably damaging Het
Ros1 T A 10: 51,994,491 (GRCm39) Y1284F probably damaging Het
Skint6 T C 4: 113,034,224 (GRCm39) K301R possibly damaging Het
Slc30a5 T A 13: 100,951,214 (GRCm39) R223* probably null Het
Slc35a1 A T 4: 34,675,181 (GRCm39) V119E probably damaging Het
Slc6a11 A T 6: 114,220,914 (GRCm39) I482F probably damaging Het
Tektl1 T C 10: 78,583,128 (GRCm39) T419A probably damaging Het
Tgm1 A T 14: 55,942,991 (GRCm39) C616* probably null Het
Tiam2 T A 17: 3,553,298 (GRCm39) I1125N probably damaging Het
Tln2 T C 9: 67,136,732 (GRCm39) D1251G probably damaging Het
Tnfaip2 C G 12: 111,412,161 (GRCm39) S187R probably benign Het
Ush2a A G 1: 188,644,045 (GRCm39) Y4469C probably damaging Het
Vmn1r229 G C 17: 21,035,259 (GRCm39) C168S probably damaging Het
Vmn2r53 A G 7: 12,335,124 (GRCm39) S179P probably damaging Het
Zfp474 A C 18: 52,771,502 (GRCm39) I52L probably benign Het
Other mutations in Cryba2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Cryba2 APN 1 74,929,720 (GRCm39) missense possibly damaging 0.64
IGL02141:Cryba2 APN 1 74,931,943 (GRCm39) missense probably benign 0.11
P0035:Cryba2 UTSW 1 74,929,171 (GRCm39) missense probably damaging 1.00
R0518:Cryba2 UTSW 1 74,929,284 (GRCm39) missense possibly damaging 0.91
R1079:Cryba2 UTSW 1 74,929,717 (GRCm39) missense probably damaging 1.00
R1317:Cryba2 UTSW 1 74,929,835 (GRCm39) splice site probably null
R4494:Cryba2 UTSW 1 74,929,789 (GRCm39) missense probably damaging 1.00
R4666:Cryba2 UTSW 1 74,929,207 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TAGCCACAGCAGGATCACTC -3'
(R):5'- CAGACATGACTATAAAGCAGCG -3'

Sequencing Primer
(F):5'- AGCAGGATCACTCACGCG -3'
(R):5'- GTGCTCACTCACTCGGTG -3'
Posted On 2022-05-16