Incidental Mutation 'R8797:Crygc'
ID 671291
Institutional Source Beutler Lab
Gene Symbol Crygc
Ensembl Gene ENSMUSG00000025952
Gene Name crystallin, gamma C
Synonyms Cryg-5
MMRRC Submission 068638-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8797 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 65110684-65112691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65111030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 86 (A86T)
Ref Sequence ENSEMBL: ENSMUSP00000109698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027089] [ENSMUST00000114064]
AlphaFold Q61597
Predicted Effect probably benign
Transcript: ENSMUST00000027089
AA Change: A85T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027089
Gene: ENSMUSG00000025952
AA Change: A85T

DomainStartEndE-ValueType
XTALbg 3 82 1.57e-48 SMART
XTALbg 89 170 4.07e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114064
AA Change: A86T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109698
Gene: ENSMUSG00000025952
AA Change: A86T

DomainStartEndE-ValueType
XTALbg 3 82 1.57e-48 SMART
XTALbg 90 171 4.07e-42 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes and heterozygotes for a chlorambucil-induced mutation exhibit a nuclear and radial cataract characterized by persistence of the lens fiber cell nuclei. Homozygotes present a more severe cataract with mild microphthalmia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 C A 7: 119,137,374 (GRCm39) P397T probably damaging Het
Adamts14 C T 10: 61,106,781 (GRCm39) R113K probably benign Het
Baiap2 G A 11: 119,897,201 (GRCm39) V519I probably benign Het
Ccna1 C T 3: 54,953,069 (GRCm39) A233T probably benign Het
Cdon T C 9: 35,389,931 (GRCm39) Y862H probably damaging Het
Cyb5d2 T G 11: 72,669,662 (GRCm39) N232T probably benign Het
Dnah14 C A 1: 181,465,412 (GRCm39) H1193N probably benign Het
Dnah17 T G 11: 117,992,201 (GRCm39) E1170A probably benign Het
Dnah7b A G 1: 46,162,806 (GRCm39) Y384C probably damaging Het
Fat4 G A 3: 39,053,278 (GRCm39) V4091I probably benign Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
G6pc2 A G 2: 69,050,441 (GRCm39) Y22C probably benign Het
Gpihbp1 A T 15: 75,469,828 (GRCm39) Q181L possibly damaging Het
H2bc4 C T 13: 23,868,552 (GRCm39) S113L probably damaging Het
Hhatl A T 9: 121,619,965 (GRCm39) probably benign Het
Iars1 C A 13: 49,841,738 (GRCm39) S75R probably benign Het
Igfn1 T A 1: 135,902,573 (GRCm39) I375F possibly damaging Het
Itih4 A G 14: 30,618,529 (GRCm39) I647V probably benign Het
Jmjd1c T A 10: 67,060,616 (GRCm39) C703S probably benign Het
L3mbtl2 C T 15: 81,569,615 (GRCm39) T619I possibly damaging Het
Lct T C 1: 128,231,684 (GRCm39) T722A possibly damaging Het
Meioc C T 11: 102,567,686 (GRCm39) Q827* probably null Het
Meis2 T C 2: 115,694,986 (GRCm39) S386G probably benign Het
Mroh8 T A 2: 157,071,876 (GRCm39) D543V probably damaging Het
Ms4a13 C T 19: 11,161,200 (GRCm39) R113H probably benign Het
Myrfl T C 10: 116,613,325 (GRCm39) Y826C probably benign Het
Nf1 T C 11: 79,366,711 (GRCm39) probably benign Het
Nrg3 A C 14: 38,093,243 (GRCm39) L542R probably benign Het
Or13j1 T C 4: 43,706,455 (GRCm39) T38A probably damaging Het
Or2y8 T A 11: 52,036,340 (GRCm39) T6S probably benign Het
Or6c65 T A 10: 129,603,674 (GRCm39) I103K probably damaging Het
Pcdh15 A G 10: 74,419,978 (GRCm39) N1212S probably damaging Het
Pcsk5 G A 19: 17,443,472 (GRCm39) T1229I probably benign Het
Pkd1l3 A T 8: 110,374,946 (GRCm39) H1483L probably benign Het
Polr3b T A 10: 84,532,879 (GRCm39) L840* probably null Het
Psd4 A T 2: 24,287,440 (GRCm39) R457S probably benign Het
Relch T C 1: 105,678,121 (GRCm39) S1149P possibly damaging Het
Rgs12 A G 5: 35,186,915 (GRCm39) S194G Het
Rps3 A G 7: 99,132,797 (GRCm39) probably null Het
Saxo4 T C 19: 10,455,602 (GRCm39) I216V probably benign Het
Sgcb G T 5: 73,793,036 (GRCm39) N255K probably benign Het
Sla2 A G 2: 156,717,799 (GRCm39) Y158H probably damaging Het
Sla2 G A 2: 156,717,823 (GRCm39) Q150* probably null Het
Slc12a2 T A 18: 58,012,455 (GRCm39) Y193N possibly damaging Het
Supt16 G T 14: 52,409,960 (GRCm39) T749K probably damaging Het
Uqcrc2 A G 7: 120,239,500 (GRCm39) E104G probably damaging Het
Vasp T C 7: 18,994,563 (GRCm39) N251S unknown Het
Vmn1r72 A G 7: 11,403,965 (GRCm39) M161T probably benign Het
Zc3h18 T C 8: 123,134,989 (GRCm39) probably benign Het
Zfp981 T A 4: 146,619,906 (GRCm39) L20* probably null Het
Other mutations in Crygc
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4340:Crygc UTSW 1 65,110,822 (GRCm39) missense probably benign 0.00
R6841:Crygc UTSW 1 65,112,361 (GRCm39) missense possibly damaging 0.94
R7648:Crygc UTSW 1 65,112,484 (GRCm39) missense probably damaging 0.98
R7869:Crygc UTSW 1 65,111,014 (GRCm39) missense possibly damaging 0.88
R8084:Crygc UTSW 1 65,110,981 (GRCm39) missense probably benign
R8197:Crygc UTSW 1 65,112,365 (GRCm39) missense probably benign 0.31
R9209:Crygc UTSW 1 65,112,376 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAGCATCTACAGAGCCCCAGTC -3'
(R):5'- TAGCAGGAGACCCACTGATG -3'

Sequencing Primer
(F):5'- GTACTCTTGAGGCCTCAGCAGATAC -3'
(R):5'- GGAGACCCACTGATGCATAGCTC -3'
Posted On 2021-04-30