Incidental Mutation 'IGL02141:Cryba2'
ID 281559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryba2
Ensembl Gene ENSMUSG00000006546
Gene Name crystallin, beta A2
Synonyms E130107M19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL02141
Quality Score
Status
Chromosome 1
Chromosomal Location 74889934-74893143 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74892784 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 35 (N35S)
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: N35S

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000006721
Gene: ENSMUSG00000006546
AA Change: N35S

DomainStartEndE-ValueType
XTALbg 13 98 1.64e-37 SMART
XTALbg 107 195 8.79e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133833
AA Change: N35S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000140298
Gene: ENSMUSG00000006546
AA Change: N35S

DomainStartEndE-ValueType
XTALbg 13 54 3.2e-3 SMART
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,183,465 (GRCm38) A188T probably benign Het
2310022B05Rik A T 8: 124,637,906 (GRCm38) probably benign Het
4931423N10Rik T C 2: 23,230,200 (GRCm38) F203L probably damaging Het
Atf6b C A 17: 34,653,277 (GRCm38) H539Q probably benign Het
Bmal2 T A 6: 146,828,095 (GRCm38) probably benign Het
Bpifb5 G T 2: 154,229,557 (GRCm38) probably null Het
Cep89 T A 7: 35,420,924 (GRCm38) M377K probably damaging Het
Clpx G T 9: 65,312,118 (GRCm38) probably null Het
Cops5 T C 1: 10,035,117 (GRCm38) K47E probably damaging Het
Ddx27 A G 2: 167,020,523 (GRCm38) K162E possibly damaging Het
Dhx36 A G 3: 62,493,889 (GRCm38) S319P probably benign Het
Dram2 A G 3: 106,571,696 (GRCm38) probably benign Het
Eci2 T A 13: 34,978,673 (GRCm38) T300S probably benign Het
Egf C A 3: 129,739,982 (GRCm38) G70* probably null Het
Eif5b T C 1: 38,032,322 (GRCm38) V444A probably benign Het
Elf3 T C 1: 135,257,707 (GRCm38) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm38) probably null Het
Fam167a T A 14: 63,452,259 (GRCm38) S2T probably benign Het
Flrt3 A G 2: 140,660,688 (GRCm38) V340A probably damaging Het
Gimap3 T C 6: 48,765,378 (GRCm38) E206G probably benign Het
Gp6 T C 7: 4,394,104 (GRCm38) probably benign Het
Gpr158 A T 2: 21,783,290 (GRCm38) M581L probably damaging Het
Hapln3 A G 7: 79,118,145 (GRCm38) V167A probably damaging Het
Hnrnpll G A 17: 80,050,713 (GRCm38) T203I probably benign Het
Ighv3-6 A G 12: 114,288,362 (GRCm38) I47T probably damaging Het
Iqgap1 G A 7: 80,738,121 (GRCm38) T926M probably damaging Het
Lonp1 A T 17: 56,615,086 (GRCm38) S765T probably benign Het
Lpp C T 16: 24,761,615 (GRCm38) S27F probably damaging Het
Lrit2 T C 14: 37,068,074 (GRCm38) probably benign Het
Luc7l C A 17: 26,253,080 (GRCm38) T17K probably damaging Het
Mmut A G 17: 40,938,817 (GRCm38) T228A possibly damaging Het
Mroh1 G T 15: 76,446,599 (GRCm38) S1161I possibly damaging Het
Muc5b T G 7: 141,853,367 (GRCm38) C1091G unknown Het
Nppb A T 4: 147,986,006 (GRCm38) I11F probably benign Het
Nsf A T 11: 103,828,525 (GRCm38) D650E probably benign Het
Ogdh A G 11: 6,355,015 (GRCm38) K907E probably damaging Het
Or1b1 G A 2: 37,105,425 (GRCm38) S75F probably benign Het
Or1j15 A G 2: 36,568,808 (GRCm38) D70G probably damaging Het
Or7a35 A G 10: 79,017,721 (GRCm38) Y133C probably damaging Het
Pcnx1 A T 12: 81,860,382 (GRCm38) Q4L possibly damaging Het
Pgc T A 17: 47,726,931 (GRCm38) L9H probably damaging Het
Pikfyve T A 1: 65,246,397 (GRCm38) S887T probably benign Het
Plec T C 15: 76,175,615 (GRCm38) D3239G probably damaging Het
Pole4 T C 6: 82,648,034 (GRCm38) T116A probably benign Het
Prpf8 A G 11: 75,490,672 (GRCm38) N300D possibly damaging Het
Rara T A 11: 98,968,081 (GRCm38) Y119N probably damaging Het
Rbck1 G T 2: 152,318,374 (GRCm38) R462S possibly damaging Het
Setdb2 C T 14: 59,402,315 (GRCm38) R709Q probably damaging Het
Slfn2 C A 11: 83,069,844 (GRCm38) N216K probably benign Het
Suox A G 10: 128,672,098 (GRCm38) probably benign Het
Tars1 T A 15: 11,391,194 (GRCm38) Y283F probably damaging Het
Trpm4 A T 7: 45,318,179 (GRCm38) probably null Het
Ubtd2 A T 11: 32,499,262 (GRCm38) K36N probably benign Het
Unkl T C 17: 25,229,434 (GRCm38) L327P probably damaging Het
Vmn1r11 T A 6: 57,137,379 (GRCm38) Y9* probably null Het
Vps13b T C 15: 35,572,081 (GRCm38) V948A probably benign Het
Zbtb17 A G 4: 141,464,953 (GRCm38) H403R probably damaging Het
Other mutations in Cryba2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Cryba2 APN 1 74,890,561 (GRCm38) missense possibly damaging 0.64
P0035:Cryba2 UTSW 1 74,890,012 (GRCm38) missense probably damaging 1.00
R0518:Cryba2 UTSW 1 74,890,125 (GRCm38) missense possibly damaging 0.91
R1079:Cryba2 UTSW 1 74,890,558 (GRCm38) missense probably damaging 1.00
R1317:Cryba2 UTSW 1 74,890,676 (GRCm38) splice site probably null
R4494:Cryba2 UTSW 1 74,890,630 (GRCm38) missense probably damaging 1.00
R4666:Cryba2 UTSW 1 74,890,048 (GRCm38) missense probably benign
R9407:Cryba2 UTSW 1 74,892,878 (GRCm38) missense probably benign 0.00
Posted On 2015-04-16