Incidental Mutation 'R7392:Crygs'
ID 573547
Institutional Source Beutler Lab
Gene Symbol Crygs
Ensembl Gene ENSMUSG00000033501
Gene Name crystallin, gamma S
Synonyms Opj
MMRRC Submission 045474-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7392 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 22623953-22630160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22625252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 63 (P63L)
Ref Sequence ENSEMBL: ENSMUSP00000043588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040592]
AlphaFold O35486
PDB Structure NMR structure of murine gamma-S crystallin [SOLUTION NMR]
NMR structure of murine gamma-S crystallin [SOLUTION NMR]
NMR structure of murine gamma-S crystallin from joint refinement with SAXS data [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000040592
AA Change: P63L

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000043588
Gene: ENSMUSG00000033501
AA Change: P63L

DomainStartEndE-ValueType
XTALbg 7 86 5.98e-40 SMART
XTALbg 95 176 6.26e-43 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene can cause cataracts and/or disrupted lens fiber cell morphology and organization. Aging mice homozygous for a knock-out allele do not develop cataracts but show focusing defects associated with inefficient clearance of cellular organelles and altered actin distribution. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,990 (GRCm39) F564L probably damaging Het
Abcc2 T C 19: 43,797,126 (GRCm39) I499T probably damaging Het
Adamts13 C T 2: 26,879,336 (GRCm39) R630C probably damaging Het
Adgrv1 A T 13: 81,708,808 (GRCm39) F1199I probably damaging Het
Agbl5 G A 5: 31,048,115 (GRCm39) probably null Het
Anks1b A G 10: 90,516,648 (GRCm39) D881G possibly damaging Het
Arap2 A T 5: 62,855,728 (GRCm39) S569R possibly damaging Het
Arhgap15 T C 2: 43,953,786 (GRCm39) S171P possibly damaging Het
Arhgef11 G A 3: 87,624,482 (GRCm39) probably null Het
Baz1a C A 12: 54,945,550 (GRCm39) L1271F probably damaging Het
Bdnf A C 2: 109,554,275 (GRCm39) K216N probably benign Het
Bmp7 C T 2: 172,711,998 (GRCm39) D409N probably damaging Het
Bnip5 A T 17: 29,127,351 (GRCm39) D219E probably benign Het
Cacna1c T A 6: 118,718,881 (GRCm39) I390F Het
Chd8 A G 14: 52,470,312 (GRCm39) S433P probably benign Het
Clrn2 A G 5: 45,621,251 (GRCm39) E215G possibly damaging Het
Col19a1 T G 1: 24,573,115 (GRCm39) D219A unknown Het
Col2a1 G A 15: 97,878,032 (GRCm39) R1036* probably null Het
Copg1 T A 6: 87,867,257 (GRCm39) V110D probably benign Het
Cpd C T 11: 76,692,605 (GRCm39) G744D probably damaging Het
Dcn A G 10: 97,345,860 (GRCm39) D224G probably damaging Het
Dnah7a T C 1: 53,540,820 (GRCm39) E2518G probably benign Het
Efcab6 C A 15: 83,873,152 (GRCm39) R197L probably benign Het
Efr3b T A 12: 4,019,588 (GRCm39) Y723F probably benign Het
Enam A G 5: 88,649,523 (GRCm39) N344S probably damaging Het
Erich4 A G 7: 25,315,101 (GRCm39) I58T possibly damaging Het
Esrp1 A G 4: 11,338,809 (GRCm39) V665A probably benign Het
Etf1 G A 18: 35,039,103 (GRCm39) T388I probably benign Het
Faf1 A G 4: 109,652,040 (GRCm39) T244A probably benign Het
Fbn1 T C 2: 125,185,844 (GRCm39) D1610G probably damaging Het
Fcgbpl1 C T 7: 27,863,797 (GRCm39) T2523M possibly damaging Het
Frem1 G T 4: 82,932,064 (GRCm39) F212L probably benign Het
Fuom T A 7: 139,681,073 (GRCm39) D85V probably damaging Het
Gcfc2 T C 6: 81,919,993 (GRCm39) probably null Het
Gpr37 C T 6: 25,688,786 (GRCm39) A104T probably benign Het
Hsp90ab1 G C 17: 45,879,974 (GRCm39) T514S probably benign Het
Ifnl2 A G 7: 28,209,094 (GRCm39) F74L probably benign Het
Ipo11 G A 13: 107,028,199 (GRCm39) R367* probably null Het
Itpr2 T C 6: 146,260,838 (GRCm39) D963G possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lrch3 T A 16: 32,807,125 (GRCm39) L466* probably null Het
Lrfn5 A T 12: 61,887,090 (GRCm39) T293S probably benign Het
Lrp5 A G 19: 3,660,199 (GRCm39) I955T probably damaging Het
Lrrc4b C T 7: 44,111,439 (GRCm39) T437M probably damaging Het
Man1a A G 10: 53,795,283 (GRCm39) Y657H probably damaging Het
Mapkap1 G T 2: 34,325,166 (GRCm39) R94L probably damaging Het
Mtmr4 T A 11: 87,495,383 (GRCm39) L480Q probably damaging Het
Mycbp2 T C 14: 103,389,627 (GRCm39) I3504M probably damaging Het
Mycbp2 A T 14: 103,480,564 (GRCm39) C1169S probably damaging Het
Myo15a T C 11: 60,396,802 (GRCm39) S1455P Het
Niban1 A G 1: 151,571,975 (GRCm39) T307A probably damaging Het
Nid2 A G 14: 19,818,724 (GRCm39) D406G probably benign Het
Nrip2 A G 6: 128,381,913 (GRCm39) I69V probably benign Het
Nthl1 G A 17: 24,857,598 (GRCm39) V266I probably benign Het
Or2ag16 T C 7: 106,352,589 (GRCm39) E2G possibly damaging Het
Or5an6 G T 19: 12,371,829 (GRCm39) L67F probably damaging Het
Or5b21 A G 19: 12,839,951 (GRCm39) T271A probably benign Het
Or5g23 A C 2: 85,438,832 (GRCm39) C141G possibly damaging Het
Or5p75-ps1 C A 7: 108,107,291 (GRCm39) H9Q possibly damaging Het
Or8k25 A G 2: 86,243,496 (GRCm39) V300A probably benign Het
Or8s5 A G 15: 98,238,192 (GRCm39) V226A probably benign Het
Pcdhb1 A C 18: 37,398,171 (GRCm39) S41R possibly damaging Het
Pdcd11 T A 19: 47,116,436 (GRCm39) F1529I probably damaging Het
Plcd3 C A 11: 102,992,383 (GRCm39) probably benign Het
Qdpr T C 5: 45,596,718 (GRCm39) M149V probably benign Het
R3hcc1 T A 14: 69,943,329 (GRCm39) probably null Het
Rasgrf2 T C 13: 92,041,856 (GRCm39) Y392C Het
Slc8a3 A C 12: 81,361,577 (GRCm39) V414G probably damaging Het
Slco1a6 A G 6: 142,103,003 (GRCm39) S54P probably benign Het
Sos1 C A 17: 80,731,629 (GRCm39) V624F probably damaging Het
Spdef T C 17: 27,936,262 (GRCm39) D227G probably benign Het
Sptb G T 12: 76,671,003 (GRCm39) Q447K probably damaging Het
Srsf12 A T 4: 33,209,265 (GRCm39) R62W unknown Het
Stag3 T C 5: 138,289,628 (GRCm39) L266P probably damaging Het
Sult2b1 T C 7: 45,391,862 (GRCm39) probably benign Het
Taf1a A G 1: 183,190,095 (GRCm39) T66A Het
Tfg A T 16: 56,532,972 (GRCm39) probably null Het
Trim34b A G 7: 103,985,604 (GRCm39) N413S probably benign Het
Txndc15 T A 13: 55,869,399 (GRCm39) M184K probably damaging Het
Umodl1 A C 17: 31,201,306 (GRCm39) S412R probably damaging Het
Zbtb8b T A 4: 129,326,683 (GRCm39) M161L probably benign Het
Zfp597 A T 16: 3,684,369 (GRCm39) V129E probably benign Het
Zfp790 T C 7: 29,528,050 (GRCm39) I245T possibly damaging Het
Other mutations in Crygs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Crygs APN 16 22,625,312 (GRCm39) missense possibly damaging 0.81
R1694:Crygs UTSW 16 22,625,425 (GRCm39) splice site probably null
R1932:Crygs UTSW 16 22,625,304 (GRCm39) missense probably benign 0.12
R2206:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2207:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2275:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2298:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2299:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2300:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2326:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2329:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2330:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2331:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2332:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2857:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2895:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2896:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2921:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2922:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3120:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3196:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3427:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3609:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3611:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3625:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3693:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3694:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3695:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3870:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3871:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3876:Crygs UTSW 16 22,625,262 (GRCm39) missense probably damaging 1.00
R4052:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R4207:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R4299:Crygs UTSW 16 22,624,161 (GRCm39) nonsense probably null
R4630:Crygs UTSW 16 22,624,268 (GRCm39) missense possibly damaging 0.90
R7573:Crygs UTSW 16 22,624,069 (GRCm39) makesense probably null
R7954:Crygs UTSW 16 22,624,082 (GRCm39) missense probably damaging 1.00
R7955:Crygs UTSW 16 22,624,082 (GRCm39) missense probably damaging 1.00
R7957:Crygs UTSW 16 22,624,082 (GRCm39) missense probably damaging 1.00
R8172:Crygs UTSW 16 22,625,292 (GRCm39) missense probably damaging 1.00
R9653:Crygs UTSW 16 22,625,304 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- TTTCATTCAACGAAGAAGAGGTAGG -3'
(R):5'- GCAGATTAGTTTCTACGAAGACCG -3'

Sequencing Primer
(F):5'- ACCTGCATGCAAATGTGTGC -3'
(R):5'- GAAATTTTCAAGGCCGCCG -3'
Posted On 2019-09-13