Incidental Mutation 'R0725:Crygb'
ID 63636
Institutional Source Beutler Lab
Gene Symbol Crygb
Ensembl Gene ENSMUSG00000073658
Gene Name crystallin, gamma B
Synonyms Cryg-3, DGcry-3
MMRRC Submission 038907-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0725 (G1)
Quality Score 186
Status Validated
Chromosome 1
Chromosomal Location 65119381-65121449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65121100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 76 (I76V)
Ref Sequence ENSEMBL: ENSMUSP00000027090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027090]
AlphaFold P04344
Predicted Effect probably benign
Transcript: ENSMUST00000027090
AA Change: I76V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027090
Gene: ENSMUSG00000073658
AA Change: I76V

DomainStartEndE-ValueType
XTALbg 3 82 6.2e-47 SMART
XTALbg 90 171 2.89e-47 SMART
Meta Mutation Damage Score 0.1336 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.7%
Validation Efficiency 100% (70/70)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asph C T 4: 9,542,275 (GRCm39) D305N probably damaging Het
Atp13a3 T C 16: 30,170,205 (GRCm39) K327R probably damaging Het
Cacna1s T C 1: 136,026,264 (GRCm39) probably benign Het
Ccnk T C 12: 108,161,834 (GRCm39) probably benign Het
Cep55 T C 19: 38,048,622 (GRCm39) S93P possibly damaging Het
Cfap300 A T 9: 8,027,144 (GRCm39) D131E probably damaging Het
Cfh A G 1: 140,085,081 (GRCm39) probably benign Het
Clptm1l A G 13: 73,754,462 (GRCm39) T129A probably benign Het
Cntnap5a A G 1: 116,220,206 (GRCm39) E672G probably benign Het
Cpped1 C A 16: 11,646,314 (GRCm39) W170L probably damaging Het
Cyp3a25 A G 5: 145,931,746 (GRCm39) S121P probably damaging Het
Cyp4b1 T C 4: 115,484,024 (GRCm39) D395G probably damaging Het
Dll4 T C 2: 119,163,170 (GRCm39) V597A probably damaging Het
Dock7 T C 4: 98,833,528 (GRCm39) D1891G probably damaging Het
Dsel T C 1: 111,787,682 (GRCm39) D951G possibly damaging Het
Dync2h1 C A 9: 7,015,497 (GRCm39) V3603F possibly damaging Het
Fam167b C A 4: 129,472,078 (GRCm39) A31S probably damaging Het
Fgfrl1 T A 5: 108,852,539 (GRCm39) I25N probably damaging Het
Gzf1 C T 2: 148,526,569 (GRCm39) R347* probably null Het
Heatr5b T A 17: 79,103,825 (GRCm39) I1117F probably benign Het
Kntc1 T C 5: 123,907,767 (GRCm39) V456A possibly damaging Het
Macc1 C A 12: 119,411,251 (GRCm39) S673* probably null Het
Mpp4 T C 1: 59,160,581 (GRCm39) E574G probably damaging Het
Muc20 C T 16: 32,613,858 (GRCm39) M506I probably benign Het
Ncbp1 A G 4: 46,152,056 (GRCm39) T218A probably benign Het
Nfxl1 A T 5: 72,716,473 (GRCm39) V46E probably benign Het
Nfyc G T 4: 120,625,931 (GRCm39) probably benign Het
Niban1 A G 1: 151,581,766 (GRCm39) E454G probably benign Het
Or51f5 T A 7: 102,423,739 (GRCm39) S3T probably benign Het
Or8g55 A T 9: 39,784,643 (GRCm39) Q24L probably damaging Het
Osbpl8 T C 10: 111,122,101 (GRCm39) F681S possibly damaging Het
Pcm1 G C 8: 41,740,848 (GRCm39) E1031D probably damaging Het
Pdcd11 A G 19: 47,115,730 (GRCm39) E1486G probably benign Het
Pex12 G T 11: 83,188,860 (GRCm39) A45E probably damaging Het
Pheta1 T A 5: 121,991,314 (GRCm39) H225Q probably benign Het
Pigm A G 1: 172,204,384 (GRCm39) D40G probably damaging Het
Pkp1 G T 1: 135,808,478 (GRCm39) N496K probably benign Het
Psmc4 T C 7: 27,748,287 (GRCm39) I54V probably benign Het
Rbm33 T C 5: 28,599,481 (GRCm39) V951A unknown Het
Selenbp2 G T 3: 94,604,809 (GRCm39) probably benign Het
Slc3a1 G A 17: 85,368,263 (GRCm39) W510* probably null Het
Stx12 A C 4: 132,584,701 (GRCm39) probably benign Het
Tas2r125 G T 6: 132,887,085 (GRCm39) D158Y probably benign Het
Tchp C A 5: 114,857,682 (GRCm39) Q392K probably benign Het
Tmed11 T A 5: 108,926,855 (GRCm39) D139V probably damaging Het
Ttn C T 2: 76,578,654 (GRCm39) V24080M probably damaging Het
Ush2a G A 1: 188,683,722 (GRCm39) G4967D probably damaging Het
Vezf1 T C 11: 87,964,156 (GRCm39) S103P probably benign Het
Xpnpep3 T C 15: 81,315,043 (GRCm39) S248P probably damaging Het
Yipf2 G C 9: 21,503,519 (GRCm39) probably null Het
Zfp110 A T 7: 12,570,290 (GRCm39) Q39L possibly damaging Het
Zfp287 A T 11: 62,605,039 (GRCm39) C623S 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
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
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'- TCACCACCACGTTCCTGAGAACTG -3'
(R):5'- AAGTCCTGGAACCCTGACCTTTGC -3'

Sequencing Primer
(F):5'- ACGTTCCTGAGAACTGAGATTCC -3'
(R):5'- AAGCAGCATCCTTGCTGG -3'
Posted On 2013-07-30