Incidental Mutation 'R7288:Crygb'
ID 566132
Institutional Source Beutler Lab
Gene Symbol Crygb
Ensembl Gene ENSMUSG00000073658
Gene Name crystallin, gamma B
Synonyms Cryg-3, DGcry-3
MMRRC Submission 045395-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7288 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 65119381-65121449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65121084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 81 (L81P)
Ref Sequence ENSEMBL: ENSMUSP00000027090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027090]
AlphaFold P04344
Predicted Effect probably benign
Transcript: ENSMUST00000027090
AA Change: L81P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000027090
Gene: ENSMUSG00000073658
AA Change: L81P

DomainStartEndE-ValueType
XTALbg 3 82 6.2e-47 SMART
XTALbg 90 171 2.89e-47 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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 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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,131 (GRCm39) D204E probably benign Het
Adh1 T G 3: 137,988,493 (GRCm39) D155E probably benign Het
Akt1s1 T C 7: 44,498,571 (GRCm39) L2P unknown Het
Ash1l T A 3: 88,873,199 (GRCm39) probably benign Het
Bend7 C T 2: 4,757,641 (GRCm39) P228S probably damaging Het
Bpifc T C 10: 85,824,585 (GRCm39) E218G possibly damaging Het
Cdk6 T A 5: 3,479,001 (GRCm39) F127Y probably benign Het
Cgnl1 A T 9: 71,632,846 (GRCm39) H168Q possibly damaging Het
Chd7 C T 4: 8,847,093 (GRCm39) T1612I possibly damaging Het
Col4a4 A T 1: 82,470,184 (GRCm39) C782S unknown Het
Copg2 T A 6: 30,801,341 (GRCm39) I364L probably damaging Het
Cyp4f18 A T 8: 72,747,017 (GRCm39) M326K probably damaging Het
Dhx34 A G 7: 15,949,361 (GRCm39) S356P probably benign Het
Dmbt1 C T 7: 130,685,519 (GRCm39) Q855* probably null Het
Dnai3 T C 3: 145,787,007 (GRCm39) T343A probably damaging Het
Dnph1 A G 17: 46,809,938 (GRCm39) N160S probably benign Het
Esrra A T 19: 6,890,139 (GRCm39) C228* probably null Het
Evpl T C 11: 116,114,775 (GRCm39) N972D probably benign Het
Fat3 T C 9: 15,909,888 (GRCm39) D2038G probably damaging Het
Fhit T A 14: 9,763,784 (GRCm38) R102W probably damaging Het
Gal3st1 A T 11: 3,948,609 (GRCm39) D272V probably damaging Het
Gal3st1 T A 11: 3,948,651 (GRCm39) V286D probably damaging Het
Gemin4 A T 11: 76,104,206 (GRCm39) M185K possibly damaging Het
Hecw1 T C 13: 14,490,821 (GRCm39) I311V probably benign Het
Ift172 T C 5: 31,442,630 (GRCm39) Y179C probably damaging Het
Ighv7-3 C T 12: 114,116,963 (GRCm39) W66* probably null Het
Iqgap3 T A 3: 88,016,142 (GRCm39) I975N probably damaging Het
Khdrbs3 A G 15: 68,921,262 (GRCm39) E281G possibly damaging Het
Lamb2 A T 9: 108,365,523 (GRCm39) T1369S probably benign Het
Mettl8 A T 2: 70,812,382 (GRCm39) D84E probably benign Het
Mrgprb3 C A 7: 48,293,059 (GRCm39) C164F probably damaging Het
Mtg2 A G 2: 179,725,180 (GRCm39) Y131C probably damaging Het
Nacc1 C T 8: 85,403,174 (GRCm39) A234T probably benign Het
Nsmaf C T 4: 6,416,641 (GRCm39) V551I probably benign Het
Or13a26 T A 7: 140,284,942 (GRCm39) C259* probably null Het
Or7e175 T A 9: 20,048,737 (GRCm39) Y108* probably null Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Pcdhb12 T A 18: 37,569,068 (GRCm39) D71E probably benign Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pkm A G 9: 59,576,196 (GRCm39) S127G probably benign Het
Plxna2 T A 1: 194,479,227 (GRCm39) L1296H probably damaging Het
Ppil6 C G 10: 41,374,524 (GRCm39) T135R probably benign Het
Ppp2r3d T C 9: 101,004,203 (GRCm39) Y378C probably damaging Het
Rabep2 C T 7: 126,043,377 (GRCm39) R426C probably damaging Het
Rad21 A T 15: 51,845,976 (GRCm39) H31Q possibly damaging Het
Rad50 G T 11: 53,545,776 (GRCm39) Y1182* probably null Het
Serpinb9c C T 13: 33,335,883 (GRCm39) A218T possibly damaging Het
Slc34a1 C A 13: 24,003,095 (GRCm39) H248Q probably benign Het
Slc45a4 C A 15: 73,458,785 (GRCm39) E255* probably null Het
Slc8a3 T A 12: 81,263,598 (GRCm39) K596N possibly damaging Het
Tbc1d32 A C 10: 55,927,483 (GRCm39) probably null Het
Tbl2 T A 5: 135,183,253 (GRCm39) I112N possibly damaging Het
Tchp A C 5: 114,853,630 (GRCm39) K238T probably damaging Het
Tfap2d G A 1: 19,189,207 (GRCm39) G251D probably damaging Het
Thrb T A 14: 18,030,186 (GRCm38) M324K probably damaging Het
Tmem259 A T 10: 79,814,300 (GRCm39) L328Q probably damaging Het
Tmtc2 T C 10: 105,249,469 (GRCm39) H88R probably damaging Het
Tnfrsf21 A G 17: 43,348,709 (GRCm39) H107R possibly damaging Het
Trib1 T C 15: 59,526,471 (GRCm39) V347A probably benign Het
Ung T A 5: 114,269,315 (GRCm39) L9* probably null Het
Vmn1r195 G T 13: 22,463,174 (GRCm39) V215F probably damaging Het
Wdr90 A G 17: 26,065,286 (GRCm39) S1657P probably benign Het
Wdsub1 A T 2: 59,708,487 (GRCm39) Y129N possibly damaging Het
Zfp369 T G 13: 65,432,832 (GRCm39) probably null Het
Zfp770 G T 2: 114,026,142 (GRCm39) C642* probably null Het
Zfp981 C T 4: 146,622,100 (GRCm39) R342C probably benign Het
Zhx3 A C 2: 160,623,042 (GRCm39) V375G 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
R1084:Crygb UTSW 1 65,119,654 (GRCm39) missense possibly damaging 0.83
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
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'- CGTTGGCATTTGACTTCTCGATAG -3'
(R):5'- ACCTGCAGACCTACTTCAGC -3'

Sequencing Primer
(F):5'- GAGTTTTCTAAAAATTCACCACCACG -3'
(R):5'- AGACCTACTTCAGCCGCTG -3'
Posted On 2019-06-26