Incidental Mutation 'R8992:Crygb'
ID 684445
Institutional Source Beutler Lab
Gene Symbol Crygb
Ensembl Gene ENSMUSG00000073658
Gene Name crystallin, gamma B
Synonyms Cryg-3, DGcry-3
MMRRC Submission 068823-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8992 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 65080219-65082288 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65082141 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 9 (D9G)
Ref Sequence ENSEMBL: ENSMUSP00000027090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027090]
AlphaFold P04344
Predicted Effect probably damaging
Transcript: ENSMUST00000027090
AA Change: D9G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027090
Gene: ENSMUSG00000073658
AA Change: D9G

XTALbg 3 82 6.2e-47 SMART
XTALbg 90 171 2.89e-47 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14b A G 9: 106,451,618 (GRCm38) D146G probably benign Het
Abhd6 T A 14: 8,028,282 (GRCm38) D4E probably benign Het
Atpif1 T C 4: 132,533,374 (GRCm38) D34G probably benign Het
Bcr T C 10: 75,131,572 (GRCm38) F546S probably damaging Het
Bean1 CT C 8: 104,182,032 (GRCm38) probably null Het
Ccdc141 A T 2: 77,014,395 (GRCm38) W1443R probably damaging Het
Chd7 A G 4: 8,839,589 (GRCm38) D1375G probably damaging Het
Chil1 A T 1: 134,187,924 (GRCm38) Q223H probably benign Het
Clcn2 A T 16: 20,712,330 (GRCm38) F260I probably damaging Het
Cpq A T 15: 33,594,235 (GRCm38) D464V probably benign Het
Cyp2b10 A G 7: 25,925,390 (GRCm38) K438E unknown Het
Cyp46a1 A T 12: 108,358,107 (GRCm38) D381V possibly damaging Het
Dhx40 A C 11: 86,776,756 (GRCm38) probably benign Het
Dnase2b G T 3: 146,586,962 (GRCm38) P152Q probably damaging Het
Duox1 A T 2: 122,344,705 (GRCm38) H1328L probably damaging Het
Ephb6 C T 6: 41,613,359 (GRCm38) A15V probably benign Het
Fam168b A G 1: 34,819,781 (GRCm38) F102L probably benign Het
Fam3b T A 16: 97,476,394 (GRCm38) D128V probably damaging Het
Galnt11 T G 5: 25,264,985 (GRCm38) H527Q possibly damaging Het
Gbp2b A T 3: 142,610,969 (GRCm38) R460S probably benign Het
Gm7534 G A 4: 134,202,667 (GRCm38) T109I probably damaging Het
Hdhd2 A C 18: 76,970,670 (GRCm38) S246R possibly damaging Het
Heatr1 T C 13: 12,401,114 (GRCm38) M189T probably damaging Het
Ino80 A G 2: 119,379,578 (GRCm38) S1411P possibly damaging Het
Jakmip1 A G 5: 37,117,538 (GRCm38) T467A probably benign Het
Kcnh2 A G 5: 24,331,870 (GRCm38) S239P probably benign Het
Lct T A 1: 128,300,562 (GRCm38) T1065S probably damaging Het
Lrrc66 T C 5: 73,629,884 (GRCm38) D41G probably benign Het
Mfsd2b A T 12: 4,871,490 (GRCm38) D26E probably benign Het
Myh1 A T 11: 67,205,781 (GRCm38) M333L probably benign Het
Neurl4 T C 11: 69,908,132 (GRCm38) V855A possibly damaging Het
Nfkb2 T A 19: 46,306,865 (GRCm38) V80D probably damaging Het
Nop9 T C 14: 55,745,981 (GRCm38) S70P possibly damaging Het
Olfr325 A G 11: 58,580,912 (GRCm38) S23G probably benign Het
Pcdhb14 G T 18: 37,449,178 (GRCm38) D446Y probably damaging Het
Pclo C T 5: 14,669,311 (GRCm38) A1154V unknown Het
Pdgfa G T 5: 138,986,222 (GRCm38) Q141K probably damaging Het
Plekhh1 G T 12: 79,075,533 (GRCm38) L1133F probably damaging Het
Pole A T 5: 110,323,622 (GRCm38) N1411Y possibly damaging Het
Primpol A G 8: 46,581,562 (GRCm38) probably benign Het
Psmc5 T G 11: 106,261,961 (GRCm38) V203G probably damaging Het
Ptgdr C T 14: 44,858,724 (GRCm38) C177Y probably damaging Het
Ptgir A T 7: 16,907,295 (GRCm38) I171F probably damaging Het
Ptprg T A 14: 12,154,170 (GRCm38) H630Q probably benign Het
Ptrh2 A G 11: 86,690,081 (GRCm38) T175A possibly damaging Het
Ralgapb A G 2: 158,454,277 (GRCm38) T857A probably damaging Het
Rnf24 A G 2: 131,313,277 (GRCm38) F10S possibly damaging Het
Rreb1 C A 13: 37,930,376 (GRCm38) S570R probably benign Het
Rttn A G 18: 88,977,708 (GRCm38) N205S probably benign Het
Rusc1 T C 3: 89,092,058 (GRCm38) E139G probably benign Het
Scn2a A G 2: 65,763,898 (GRCm38) N1697S probably damaging Het
Serpinb3a T A 1: 107,047,177 (GRCm38) M209L probably damaging Het
Shank3 A G 15: 89,548,685 (GRCm38) D1211G possibly damaging Het
Slc22a12 C A 19: 6,542,484 (GRCm38) R90L possibly damaging Het
Slc6a13 G A 6: 121,336,942 (GRCm38) W548* probably null Het
Srfbp1 T A 18: 52,476,320 (GRCm38) L59* probably null Het
Ss18 A T 18: 14,670,323 (GRCm38) S73T probably damaging Het
Syne1 T C 10: 5,185,508 (GRCm38) K189R probably benign Het
Szt2 G T 4: 118,382,788 (GRCm38) probably benign Het
Tbx1 T A 16: 18,584,187 (GRCm38) H183L probably damaging Het
Thop1 A G 10: 81,080,138 (GRCm38) E385G possibly damaging Het
Tmem168 C A 6: 13,602,850 (GRCm38) M172I possibly damaging Het
Tmem67 A G 4: 12,058,559 (GRCm38) Y513H probably damaging Het
Top1 A G 2: 160,721,001 (GRCm38) D709G probably damaging Het
Tprgl A C 4: 154,158,433 (GRCm38) S247A probably damaging Het
Trim46 A G 3: 89,236,385 (GRCm38) S602P probably damaging Het
Ttc30a1 A T 2: 75,979,907 (GRCm38) C611S probably benign Het
Ttc7b T C 12: 100,500,174 (GRCm38) K60E probably benign Het
Ttn G A 2: 76,884,471 (GRCm38) S8053F unknown Het
Tyw1 G A 5: 130,269,224 (GRCm38) R202Q probably damaging Het
Usp24 T A 4: 106,377,565 (GRCm38) H956Q probably benign Het
Vcp T C 4: 42,980,828 (GRCm38) T761A probably benign Het
Xpc G A 6: 91,500,974 (GRCm38) T309I possibly damaging Het
Zfp560 C T 9: 20,349,599 (GRCm38) M129I probably benign Het
Other mutations in Crygb
AlleleSourceChrCoordTypePredicted EffectPPH Score
inadequate UTSW 1 65,080,486 (GRCm38) missense probably damaging 1.00
L10 UTSW 1 65,082,157 (GRCm38) missense probably damaging 1.00
R0725:Crygb UTSW 1 65,081,941 (GRCm38) missense probably benign 0.00
R1084:Crygb UTSW 1 65,080,495 (GRCm38) missense possibly damaging 0.83
R4466:Crygb UTSW 1 65,080,486 (GRCm38) missense probably damaging 1.00
R4952:Crygb UTSW 1 65,082,109 (GRCm38) missense probably benign 0.45
R7288:Crygb UTSW 1 65,081,925 (GRCm38) missense probably benign 0.02
R8408:Crygb UTSW 1 65,080,550 (GRCm38) missense probably damaging 1.00
R9576:Crygb UTSW 1 65,080,527 (GRCm38) missense probably benign 0.26
R9736:Crygb UTSW 1 65,080,548 (GRCm38) missense probably benign 0.18
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-10-11