Incidental Mutation 'R8197:Crygc'
ID 635473
Institutional Source Beutler Lab
Gene Symbol Crygc
Ensembl Gene ENSMUSG00000025952
Gene Name crystallin, gamma C
Synonyms Cryg-5
MMRRC Submission 067620-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8197 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 65110684-65112691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65112365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 70 (M70V)
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: M70V

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027089
Gene: ENSMUSG00000025952
AA Change: M70V

DomainStartEndE-ValueType
XTALbg 3 82 1.57e-48 SMART
XTALbg 89 170 4.07e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114064
AA Change: M70V

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109698
Gene: ENSMUSG00000025952
AA Change: M70V

DomainStartEndE-ValueType
XTALbg 3 82 1.57e-48 SMART
XTALbg 90 171 4.07e-42 SMART
Meta Mutation Damage Score 0.0965 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 96% (46/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,780,628 (GRCm39) D836E probably benign Het
Abca6 A C 11: 110,102,641 (GRCm39) L861R probably damaging Het
Adamts18 G T 8: 114,481,227 (GRCm39) A560E probably damaging Het
Adra2b A T 2: 127,206,578 (GRCm39) Q365L possibly damaging Het
Anxa3 A G 5: 96,982,651 (GRCm39) T250A probably benign Het
B4galt5 T A 2: 167,144,023 (GRCm39) N309I probably benign Het
Bub1 G T 2: 127,643,177 (GRCm39) R1056S probably damaging Het
Ccdc185 G T 1: 182,576,324 (GRCm39) P122T possibly damaging Het
Cdk5rap3 A G 11: 96,806,975 (GRCm39) probably null Het
Cntnap4 T A 8: 113,296,857 (GRCm39) Y31N probably benign Het
Dnah14 A G 1: 181,517,666 (GRCm39) E2000G possibly damaging Het
Dpp4 T C 2: 62,203,171 (GRCm39) N266S probably benign Het
Edrf1 T A 7: 133,249,088 (GRCm39) D304E probably benign Het
Fabp9 T G 3: 10,259,887 (GRCm39) K42T probably benign Het
Fhl4 T A 10: 84,934,101 (GRCm39) I227F probably damaging Het
Gm13941 T C 2: 110,926,921 (GRCm39) probably null Het
Gsdmd T C 15: 75,736,186 (GRCm39) I105T possibly damaging Het
Gys1 A G 7: 45,092,348 (GRCm39) D317G possibly damaging Het
Hrh4 A G 18: 13,154,986 (GRCm39) Y175C probably damaging Het
Igfals A G 17: 25,099,278 (GRCm39) N123S probably benign Het
Igkv5-37 A G 6: 69,940,841 (GRCm39) V2A possibly damaging Het
Iqsec3 A G 6: 121,389,971 (GRCm39) L500P unknown Het
Itgae G A 11: 73,011,210 (GRCm39) R660Q probably benign Het
Kcnip2 T C 19: 45,782,730 (GRCm39) I204V possibly damaging Het
Kndc1 A G 7: 139,493,447 (GRCm39) E471G probably damaging Het
Lrrtm3 T A 10: 63,924,295 (GRCm39) T291S possibly damaging Het
Mast1 T A 8: 85,639,450 (GRCm39) H1293L possibly damaging Het
Mrnip A G 11: 50,090,607 (GRCm39) E257G probably benign Het
Myo9b T C 8: 71,743,607 (GRCm39) Y223H probably damaging Het
Nab1 G A 1: 52,529,127 (GRCm39) R257* probably null Het
Ncapd3 C A 9: 26,997,329 (GRCm39) L1217I probably damaging Het
Or5h18 T A 16: 58,847,448 (GRCm39) D274V probably benign Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pde4d T A 13: 110,084,870 (GRCm39) I489N probably damaging Het
Pdyn C T 2: 129,530,277 (GRCm39) G131R probably benign Het
Qrich2 CACCTGCTTGCAACACACCAGGCTGAACTGGACCT CACCT 11: 116,347,861 (GRCm39) probably benign Het
Rps6ka1 T C 4: 133,592,673 (GRCm39) K276E possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Scube2 T A 7: 109,407,684 (GRCm39) N752I possibly damaging Het
Scyl2 T C 10: 89,498,228 (GRCm39) I194V probably benign Het
Sec31b T G 19: 44,512,955 (GRCm39) R511S probably benign Het
Serpinb6d T C 13: 33,851,588 (GRCm39) F115S probably damaging Het
Skint6 T G 4: 112,752,040 (GRCm39) probably null Het
Supt16 G A 14: 52,411,542 (GRCm39) P614S possibly damaging Het
Tmem114 T C 16: 8,227,516 (GRCm39) I182M probably damaging Het
Vmn1r125 G A 7: 21,006,851 (GRCm39) V250I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp1005 A T 2: 150,109,577 (GRCm39) H89L possibly damaging Het
Zfp959 A T 17: 56,204,677 (GRCm39) D238V probably damaging 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
R8797:Crygc UTSW 1 65,111,030 (GRCm39) missense probably benign
R9209:Crygc UTSW 1 65,112,376 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTAGGCAGGCATTTGAACACC -3'
(R):5'- CACGAGGAGCAAATGATCTCATTC -3'

Sequencing Primer
(F):5'- GGCAGGCATTTGAACACCATTTAAC -3'
(R):5'- AGATCACCTTCTTCGAGGACCG -3'
Posted On 2020-07-13