Incidental Mutation 'R8408:Crygb'
ID 652512
Institutional Source Beutler Lab
Gene Symbol Crygb
Ensembl Gene ENSMUSG00000073658
Gene Name crystallin, gamma B
Synonyms Cryg-3, DGcry-3
MMRRC Submission 067815-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8408 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 65119381-65121449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 65119709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 90 (R90S)
Ref Sequence ENSEMBL: ENSMUSP00000027090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027090]
AlphaFold P04344
Predicted Effect probably damaging
Transcript: ENSMUST00000027090
AA Change: R90S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027090
Gene: ENSMUSG00000073658
AA Change: R90S

DomainStartEndE-ValueType
XTALbg 3 82 6.2e-47 SMART
XTALbg 90 171 2.89e-47 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,236,356 (GRCm39) T1236A possibly damaging Het
9930111J21Rik1 A T 11: 48,838,829 (GRCm39) M586K probably damaging Het
Adamts4 T C 1: 171,080,314 (GRCm39) V289A possibly damaging Het
Ankrd44 A T 1: 54,762,257 (GRCm39) D522E probably benign Het
Asb14 A G 14: 26,637,067 (GRCm39) Y603C probably damaging Het
Bcl7b A G 5: 135,197,308 (GRCm39) probably benign Het
Cd5 T C 19: 10,700,469 (GRCm39) K345R possibly damaging Het
Celsr3 T C 9: 108,708,988 (GRCm39) F1278S probably damaging Het
Cndp1 T A 18: 84,650,049 (GRCm39) T215S possibly damaging Het
Dlg4 T A 11: 69,933,078 (GRCm39) F555I possibly damaging Het
Dnah3 C T 7: 119,551,728 (GRCm39) V2864M probably damaging Het
Dnttip2 A G 3: 122,070,351 (GRCm39) E522G probably damaging Het
Ercc4 G C 16: 12,948,001 (GRCm39) R406P probably benign Het
Foxp1 G A 6: 98,922,543 (GRCm39) P430S unknown Het
Galnt1 A G 18: 24,400,628 (GRCm39) T245A probably benign Het
Gnl2 T A 4: 124,938,082 (GRCm39) N287K probably damaging Het
Jcad C A 18: 4,649,402 (GRCm39) A91E possibly damaging Het
Kat6a G A 8: 23,352,275 (GRCm39) V20I probably damaging Het
Kcnb2 A G 1: 15,781,777 (GRCm39) N883S probably damaging Het
Lrch3 A T 16: 32,775,750 (GRCm39) R205S probably damaging Het
Lrr1 A G 12: 69,215,825 (GRCm39) T66A probably benign Het
Lrrc37a T A 11: 103,351,635 (GRCm39) I2569F unknown Het
Maip1 A T 1: 57,449,102 (GRCm39) Q161L probably damaging Het
Neb T C 2: 52,047,923 (GRCm39) E6699G probably benign Het
Nup205 A G 6: 35,202,182 (GRCm39) R1305G probably damaging Het
Or1e19 T A 11: 73,316,794 (GRCm39) N5I probably damaging Het
Or5ac21 A T 16: 59,124,418 (GRCm39) R301* probably null Het
Pate1 G A 9: 35,596,418 (GRCm39) R116W probably damaging Het
Pcsk5 T G 19: 17,410,809 (GRCm39) E1861A probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Per1 A T 11: 68,999,953 (GRCm39) D1215V possibly damaging Het
Phactr2 A G 10: 13,129,570 (GRCm39) S233P probably damaging Het
Pramel28 A G 4: 143,692,212 (GRCm39) V263A probably benign Het
Rgsl1 T A 1: 153,701,435 (GRCm39) N340Y possibly damaging Het
Rhot1 C T 11: 80,114,786 (GRCm39) P65S probably damaging Het
Scrn2 T C 11: 96,921,869 (GRCm39) L113P probably damaging Het
Sema6a T C 18: 47,381,958 (GRCm39) K863R probably benign Het
Slc15a1 A G 14: 121,715,528 (GRCm39) V337A possibly damaging Het
Slc25a1 T C 16: 17,743,720 (GRCm39) D298G probably benign Het
Slc25a22 G A 7: 141,011,737 (GRCm39) P168S probably benign Het
Slc29a4 A T 5: 142,691,109 (GRCm39) probably null Het
Slc35d1 T C 4: 103,047,007 (GRCm39) T264A Het
Spice1 T C 16: 44,205,060 (GRCm39) S789P probably damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Tectb T C 19: 55,178,099 (GRCm39) probably null Het
Ttn T A 2: 76,544,810 (GRCm39) Y32764F probably damaging Het
Utrn T G 10: 12,545,887 (GRCm39) S1684R possibly damaging Het
Zic1 G T 9: 91,246,847 (GRCm39) A75E probably damaging Het
Zswim4 A G 8: 84,939,014 (GRCm39) V956A possibly 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
R7288:Crygb UTSW 1 65,121,084 (GRCm39) missense probably benign 0.02
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'- ACTTTGGCATTTGCAGCCC -3'
(R):5'- AGGCTTTAGAGACTTCTGAGCTC -3'

Sequencing Primer
(F):5'- CCCAGTCAAGATATCTCCTGTAC -3'
(R):5'- AGAGACTTCTGAGCTCTGTACCG -3'
Posted On 2020-10-20