Incidental Mutation 'R7648:Crygc'
ID 590621
Institutional Source Beutler Lab
Gene Symbol Crygc
Ensembl Gene ENSMUSG00000025952
Gene Name crystallin, gamma C
Synonyms Cryg-5
MMRRC Submission 045726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7648 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 65110684-65112691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65112484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 30 (F30S)
Ref Sequence ENSEMBL: ENSMUSP00000109698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027089] [ENSMUST00000114064]
AlphaFold Q61597
Predicted Effect possibly damaging
Transcript: ENSMUST00000027089
AA Change: F30S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027089
Gene: ENSMUSG00000025952
AA Change: F30S

DomainStartEndE-ValueType
XTALbg 3 82 1.57e-48 SMART
XTALbg 89 170 4.07e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114064
AA Change: F30S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109698
Gene: ENSMUSG00000025952
AA Change: F30S

DomainStartEndE-ValueType
XTALbg 3 82 1.57e-48 SMART
XTALbg 90 171 4.07e-42 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,261,886 (GRCm39) V46A possibly damaging Het
Asb13 C A 13: 3,699,332 (GRCm39) N177K probably damaging Het
Asprv1 A G 6: 86,605,852 (GRCm39) T233A probably damaging Het
Atad2b T A 12: 5,077,182 (GRCm39) probably null Het
Atxn2 G T 5: 121,934,440 (GRCm39) V880F probably damaging Het
Car14 T C 3: 95,805,507 (GRCm39) N322S probably benign Het
Cdc42bpb T C 12: 111,343,587 (GRCm39) E40G probably damaging Het
Ceacam16 G T 7: 19,586,203 (GRCm39) A103E unknown Het
Cnnm2 A G 19: 46,866,339 (GRCm39) D829G probably damaging Het
Cpt1b C T 15: 89,305,570 (GRCm39) A382T probably damaging Het
Cstf2t A G 19: 31,060,992 (GRCm39) Q176R possibly damaging Het
Ctif A T 18: 75,770,213 (GRCm39) H57Q probably benign Het
Cyp2c40 A G 19: 39,792,289 (GRCm39) *195Q probably null Het
Cyp2j8 T A 4: 96,387,840 (GRCm39) D207V probably damaging Het
Ddx49 A G 8: 70,750,605 (GRCm39) V123A possibly damaging Het
E4f1 A T 17: 24,664,422 (GRCm39) I456K probably benign Het
Eif4b T C 15: 101,997,435 (GRCm39) S317P unknown Het
Enam A T 5: 88,652,016 (GRCm39) Q1175L possibly damaging Het
Eppk1 T C 15: 75,994,871 (GRCm39) Y670C probably benign Het
Fam163b G T 2: 27,002,752 (GRCm39) Q82K probably benign Het
Fam193a A T 5: 34,588,526 (GRCm39) K358N probably damaging Het
Gls C A 1: 52,235,939 (GRCm39) R392L probably damaging Het
Gramd1c A G 16: 43,810,232 (GRCm39) V247A probably damaging Het
Gucy1a1 C T 3: 82,016,014 (GRCm39) E325K possibly damaging Het
Hectd4 T C 5: 121,392,434 (GRCm39) C233R possibly damaging Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Kif28 A G 1: 179,536,989 (GRCm39) V498A possibly damaging Het
Klhdc7a T C 4: 139,693,250 (GRCm39) S566G possibly damaging Het
Mlph G A 1: 90,861,248 (GRCm39) probably null Het
Mndal T A 1: 173,684,961 (GRCm39) Y536F probably benign Het
Mrgpra2a A T 7: 47,076,411 (GRCm39) C282* probably null Het
Msantd5 G A 11: 51,125,613 (GRCm39) E179K possibly damaging Het
Msh3 A T 13: 92,410,536 (GRCm39) I684N probably damaging Het
Mylk G C 16: 34,699,894 (GRCm39) S419T probably benign Het
Nfxl1 T C 5: 72,680,879 (GRCm39) K747R probably benign Het
Nup98 T G 7: 101,773,404 (GRCm39) H1641P possibly damaging Het
Or8b35 A C 9: 37,903,856 (GRCm39) T18P probably damaging Het
Pcm1 A G 8: 41,728,736 (GRCm39) N570D probably damaging Het
Plekhh1 T A 12: 79,101,905 (GRCm39) V325E probably benign Het
Rabl3 A T 16: 37,384,120 (GRCm39) I176F probably damaging Het
Relb T C 7: 19,353,767 (GRCm39) E37G possibly damaging Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Tars2 G A 3: 95,658,294 (GRCm39) T177I probably benign Het
Tenm2 T A 11: 35,997,563 (GRCm39) N842I probably damaging Het
Tmem175 A G 5: 108,792,432 (GRCm39) E236G possibly damaging Het
Trank1 A G 9: 111,220,753 (GRCm39) T2497A probably benign Het
Trf A G 9: 103,105,168 (GRCm39) V48A probably benign Het
Ttc28 A G 5: 111,331,258 (GRCm39) K493E possibly damaging Het
Unc50 T C 1: 37,470,402 (GRCm39) S9P probably benign Het
Uso1 T A 5: 92,341,861 (GRCm39) probably null Het
Usp49 A T 17: 47,985,753 (GRCm39) N487I possibly damaging Het
Xab2 T C 8: 3,660,638 (GRCm39) D768G probably benign Het
Xcr1 T C 9: 123,685,657 (GRCm39) E35G possibly 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
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
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'- ATCAAACAGGACTCACATGGGG -3'
(R):5'- TCTCTGGCTGGACACTGAAC -3'

Sequencing Primer
(F):5'- CTCACATGGGGGATGAGGC -3'
(R):5'- TGGCTGGACACTGAACTCACC -3'
Posted On 2019-10-24