Incidental Mutation 'R1079:Cryba2'
ID 85766
Institutional Source Beutler Lab
Gene Symbol Cryba2
Ensembl Gene ENSMUSG00000006546
Gene Name crystallin, beta A2
Synonyms E130107M19Rik
MMRRC Submission 039165-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R1079 (G1)
Quality Score 98
Status Validated
Chromosome 1
Chromosomal Location 74929093-74932302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74929717 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JJV1
Predicted Effect probably damaging
Transcript: ENSMUST00000006721
AA Change: V140E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006721
Gene: ENSMUSG00000006546
AA Change: V140E

DomainStartEndE-ValueType
XTALbg 13 98 1.64e-37 SMART
XTALbg 107 195 8.79e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133833
SMART Domains Protein: ENSMUSP00000140298
Gene: ENSMUSG00000006546

DomainStartEndE-ValueType
XTALbg 13 54 3.2e-3 SMART
Meta Mutation Damage Score 0.9150 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (46/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik T C 7: 30,399,209 (GRCm39) M1T probably null Het
Adam25 T C 8: 41,208,513 (GRCm39) V593A possibly damaging Het
Agrn C T 4: 156,261,682 (GRCm39) C536Y probably damaging Het
Amigo3 T C 9: 107,931,051 (GRCm39) M158T probably benign Het
Arsa G A 15: 89,358,428 (GRCm39) probably benign Het
Baz1a T A 12: 54,941,785 (GRCm39) I1474L possibly damaging Het
Cfap144 A G 11: 58,692,620 (GRCm39) Y36H probably benign Het
Cfap65 A G 1: 74,944,872 (GRCm39) V1455A probably damaging Het
Cfap65 G A 1: 74,941,606 (GRCm39) A1776V probably damaging Het
Cnot6 G T 11: 49,575,930 (GRCm39) D176E probably benign Het
Crot A T 5: 9,043,504 (GRCm39) probably null Het
Dennd4b G A 3: 90,178,485 (GRCm39) R516K probably benign Het
Dst C A 1: 34,225,944 (GRCm39) T1697N possibly damaging Het
Eftud2 G T 11: 102,730,870 (GRCm39) Y837* probably null Het
Evpl G T 11: 116,120,894 (GRCm39) T447K possibly damaging Het
Fndc3a A T 14: 72,827,247 (GRCm39) M146K possibly damaging Het
Folh1 G T 7: 86,421,089 (GRCm39) T80K probably damaging Het
Gm4922 T A 10: 18,660,086 (GRCm39) Y212F probably damaging Het
Gtf2i T G 5: 134,271,748 (GRCm39) probably benign Het
Hipk3 A G 2: 104,302,043 (GRCm39) F50L probably benign Het
Ifit1bl2 T A 19: 34,596,885 (GRCm39) T244S probably benign Het
Ikzf2 T C 1: 69,578,264 (GRCm39) D341G possibly damaging Het
Kif3a G C 11: 53,461,408 (GRCm39) V17L possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lzts2 T A 19: 45,011,983 (GRCm39) N137K probably damaging Het
Mphosph8 T A 14: 56,911,716 (GRCm39) D246E probably damaging Het
Myh14 T C 7: 44,279,426 (GRCm39) E918G probably damaging Het
N6amt1 T C 16: 87,153,086 (GRCm39) V52A probably damaging Het
Npr2 A C 4: 43,643,654 (GRCm39) T561P probably damaging Het
Nudt12 G A 17: 59,318,032 (GRCm39) probably benign Het
Or10ad1 A C 15: 98,106,223 (GRCm39) V14G probably damaging Het
Or5w8 A G 2: 87,687,699 (GRCm39) Y60C probably damaging Het
Or6n2 A T 1: 173,897,032 (GRCm39) H56L possibly damaging Het
Or8k22 T A 2: 86,163,185 (GRCm39) R172W probably damaging Het
Pan2 A G 10: 128,154,107 (GRCm39) T1050A probably damaging Het
Rad17 G T 13: 100,770,407 (GRCm39) D213E probably benign Het
Sall2 T A 14: 52,550,660 (GRCm39) H843L probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sema3e A T 5: 14,275,669 (GRCm39) N258I probably benign Het
Siglec1 G A 2: 130,921,297 (GRCm39) R625* probably null Het
Slc15a3 T C 19: 10,833,344 (GRCm39) S454P probably benign Het
Sp110 G A 1: 85,516,825 (GRCm39) probably benign Het
Spatc1l T C 10: 76,399,741 (GRCm39) S88P probably damaging Het
Ssh3 A C 19: 4,316,577 (GRCm39) L143R probably damaging Het
Ttn C T 2: 76,587,340 (GRCm39) probably benign Het
Vps35 A G 8: 86,005,683 (GRCm39) L306S probably damaging Het
Zfp729a T C 13: 67,767,794 (GRCm39) I812V possibly damaging 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
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
R9407:Cryba2 UTSW 1 74,932,037 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTTTTCCAGCTAAGGACAGCCAAC -3'
(R):5'- AGGAGGGCCTGATCTATCCACAAAC -3'

Sequencing Primer
(F):5'- GAGCCTGGTTTCTACATGCAC -3'
(R):5'- CTGATCTATCCACAAACCTCCC -3'
Posted On 2013-11-18