Incidental Mutation 'R1084:Crygb'
ID 84942
Institutional Source Beutler Lab
Gene Symbol Crygb
Ensembl Gene ENSMUSG00000073658
Gene Name crystallin, gamma B
Synonyms Cryg-3, DGcry-3
MMRRC Submission 039170-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1084 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 65119381-65121449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65119654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 109 (D109N)
Ref Sequence ENSEMBL: ENSMUSP00000027090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027090]
AlphaFold P04344
Predicted Effect possibly damaging
Transcript: ENSMUST00000027090
AA Change: D109N

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027090
Gene: ENSMUSG00000073658
AA Change: D109N

DomainStartEndE-ValueType
XTALbg 3 82 6.2e-47 SMART
XTALbg 90 171 2.89e-47 SMART
Meta Mutation Damage Score 0.5688 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 100% (39/39)
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 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
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,790,004 (GRCm39) probably benign Het
Abcg4 C T 9: 44,188,766 (GRCm39) V476M probably benign Het
Arhgap9 A G 10: 127,163,797 (GRCm39) S478G probably damaging Het
Blvra A G 2: 126,922,573 (GRCm39) T3A probably benign Het
Cyp3a59 A T 5: 146,033,484 (GRCm39) T207S probably benign Het
Cyp4b1 A G 4: 115,497,509 (GRCm39) V163A probably benign Het
Dmxl2 A T 9: 54,323,717 (GRCm39) S1222R probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Dnah5 G A 15: 28,343,598 (GRCm39) V2333I probably benign Het
Eral1 C T 11: 77,965,324 (GRCm39) V364M probably damaging Het
Fat4 T C 3: 39,033,974 (GRCm39) V2542A possibly damaging Het
Glcci1 C T 6: 8,573,221 (GRCm39) Q50* probably null Het
Heg1 A G 16: 33,527,367 (GRCm39) D109G probably benign Het
Lama1 C A 17: 68,111,464 (GRCm39) S2238R probably benign Het
Ltbp1 G A 17: 75,666,420 (GRCm39) W1053* probably null Het
Ly6f T C 15: 75,140,622 (GRCm39) L15P probably damaging Het
Mapk8 T A 14: 33,110,760 (GRCm39) K290* probably null Het
Mbd1 A G 18: 74,402,603 (GRCm39) Y35C probably damaging Het
Mcf2l T C 8: 13,052,645 (GRCm39) V503A possibly damaging Het
Morc2a A G 11: 3,600,454 (GRCm39) probably benign Het
Ms4a8a T A 19: 11,053,726 (GRCm39) I127F probably damaging Het
Myo1d T C 11: 80,575,221 (GRCm39) Y165C probably damaging Het
Ocel1 G T 8: 71,824,632 (GRCm39) probably null Het
Plekhh2 C T 17: 84,878,554 (GRCm39) T603M probably damaging Het
Rab6b C T 9: 103,039,834 (GRCm39) T128M probably damaging Het
Scel G T 14: 103,802,279 (GRCm39) probably null Het
Sec23a A T 12: 59,031,921 (GRCm39) N436K probably damaging Het
Sec24a A G 11: 51,604,408 (GRCm39) L736P probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Sulf1 AAGGGA AAGGGAGGGA 1: 12,906,388 (GRCm39) probably null Het
Tex15 A G 8: 34,067,032 (GRCm39) E2154G probably benign Het
Tnrc18 A G 5: 142,750,522 (GRCm39) probably null Het
Tpr A G 1: 150,317,912 (GRCm39) Q2140R probably benign Het
Zfp142 T C 1: 74,610,985 (GRCm39) R834G probably benign Het
Zfp276 G A 8: 123,981,462 (GRCm39) R3Q probably damaging Het
Zscan4d A T 7: 10,898,932 (GRCm39) L115Q probably damaging Het
Other mutations in Crygb
AlleleSourceChrCoordTypePredicted EffectPPH Score
inadequate UTSW 1 65,119,645 (GRCm39) missense probably damaging 1.00
L10 UTSW 1 65,121,316 (GRCm39) missense probably damaging 1.00
R0725:Crygb UTSW 1 65,121,100 (GRCm39) missense probably benign 0.00
R4466:Crygb UTSW 1 65,119,645 (GRCm39) missense probably damaging 1.00
R4952:Crygb UTSW 1 65,121,268 (GRCm39) missense probably benign 0.45
R7288:Crygb UTSW 1 65,121,084 (GRCm39) missense probably benign 0.02
R8408:Crygb UTSW 1 65,119,709 (GRCm39) missense probably damaging 1.00
R8992:Crygb UTSW 1 65,121,300 (GRCm39) missense probably damaging 1.00
R9576:Crygb UTSW 1 65,119,686 (GRCm39) missense probably benign 0.26
R9736:Crygb UTSW 1 65,119,707 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- CAACTTTGGCATTTGCAGCCCC -3'
(R):5'- TTCAGGTGACACCCGAGGCTTTAG -3'

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