Incidental Mutation 'R6841:Crygc'
ID 537996
Institutional Source Beutler Lab
Gene Symbol Crygc
Ensembl Gene ENSMUSG00000025952
Gene Name crystallin, gamma C
Synonyms Cryg-5
MMRRC Submission 044947-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6841 (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 65112361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 71 (G71D)
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: G71D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027089
Gene: ENSMUSG00000025952
AA Change: G71D

DomainStartEndE-ValueType
XTALbg 3 82 1.57e-48 SMART
XTALbg 89 170 4.07e-42 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114064
AA Change: G71D

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109698
Gene: ENSMUSG00000025952
AA Change: G71D

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: 99.4%
  • 20x: 98.4%
Validation Efficiency 99% (71/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik G A 11: 6,150,439 (GRCm39) W137* probably null Het
Acads G A 5: 115,250,417 (GRCm39) T169I probably benign Het
Adgrg7 T A 16: 56,570,787 (GRCm39) N414Y probably damaging Het
Ankrd35 T A 3: 96,577,742 (GRCm39) S6T probably damaging Het
Armc3 A G 2: 19,206,630 (GRCm39) probably null Het
Atp9a C A 2: 168,496,140 (GRCm39) V555F possibly damaging Het
Bltp1 A G 3: 37,075,630 (GRCm39) Y3610C probably damaging Het
Cars2 C T 8: 11,566,198 (GRCm39) V443I probably benign Het
Cblc A G 7: 19,526,821 (GRCm39) L137P probably damaging Het
Ccdc198 T C 14: 49,481,270 (GRCm39) probably null Het
Cdk5r1 T A 11: 80,369,021 (GRCm39) C229* probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Cfap54 T C 10: 92,710,877 (GRCm39) Y2728C unknown Het
Ckap5 T A 2: 91,400,597 (GRCm39) W650R probably damaging Het
Cnot11 C T 1: 39,579,148 (GRCm39) Q12* probably null Het
Commd6 A T 14: 101,874,534 (GRCm39) D19E probably damaging Het
Cstf3 A G 2: 104,486,076 (GRCm39) K439E probably benign Het
Cyp11b2 G T 15: 74,727,340 (GRCm39) H114N probably benign Het
Cyp2d40 T C 15: 82,645,687 (GRCm39) D106G probably benign Het
Dhx8 T A 11: 101,655,618 (GRCm39) V1117E probably damaging Het
Duoxa1 G T 2: 122,134,462 (GRCm39) L219I probably damaging Het
Dynap A T 18: 70,374,253 (GRCm39) I91N probably damaging Het
Elfn1 G T 5: 139,958,900 (GRCm39) G635W probably damaging Het
Fan1 A T 7: 64,014,377 (GRCm39) I618N probably damaging Het
Fras1 A G 5: 96,876,410 (GRCm39) D2381G probably damaging Het
Fxyd6 T A 9: 45,302,851 (GRCm39) probably null Het
Gpr137b A T 13: 13,538,094 (GRCm39) W286R probably damaging Het
Gpsm3 A T 17: 34,809,536 (GRCm39) probably null Het
Has1 C T 17: 18,064,122 (GRCm39) V506I probably benign Het
Hoxd10 T A 2: 74,522,616 (GRCm39) V98D probably benign Het
Htr2b T A 1: 86,027,615 (GRCm39) D297V probably benign Het
Hydin G C 8: 111,265,007 (GRCm39) R2730P probably benign Het
I830077J02Rik T C 3: 105,833,830 (GRCm39) N109D possibly damaging Het
Igf2r A T 17: 12,922,263 (GRCm39) F1284I probably damaging Het
Ildr2 C G 1: 166,098,144 (GRCm39) D167E probably damaging Het
Ipo9 T C 1: 135,314,046 (GRCm39) D949G probably benign Het
Itga10 T C 3: 96,564,030 (GRCm39) F895L probably damaging Het
Itpr1 A G 6: 108,365,153 (GRCm39) N27S probably damaging Het
Klra4 C A 6: 130,042,162 (GRCm39) R35L probably benign Het
Map3k2 T A 18: 32,359,682 (GRCm39) C512S probably benign Het
Mertk A G 2: 128,601,150 (GRCm39) probably null Het
Mgat2 T A 12: 69,232,407 (GRCm39) I327N probably damaging Het
Mogat1 T C 1: 78,499,496 (GRCm39) I59T probably damaging Het
Mrpl2 A T 17: 46,958,382 (GRCm39) M55L probably benign Het
Nxpe3 T C 16: 55,664,685 (GRCm39) M512V possibly damaging Het
Pcdh15 T C 10: 74,286,052 (GRCm39) L769P probably damaging Het
Pcmtd2 T G 2: 181,486,231 (GRCm39) V117G probably damaging Het
Pdia2 A T 17: 26,415,578 (GRCm39) probably null Het
Repin1 A T 6: 48,574,859 (GRCm39) Q593L possibly damaging Het
Rnf213 C T 11: 119,340,692 (GRCm39) T3517I probably benign Het
Rxfp2 A T 5: 149,942,210 (GRCm39) probably benign Het
Skint8 T C 4: 111,785,968 (GRCm39) L138P probably damaging Het
Slc35a3 T A 3: 116,506,417 (GRCm39) Q5L probably null Het
Stab2 T A 10: 86,778,054 (GRCm39) N758I probably damaging Het
Sulf1 T A 1: 12,908,658 (GRCm39) I557N probably damaging Het
Tbc1d8 T C 1: 39,428,455 (GRCm39) I497V possibly damaging Het
Ticam2 A C 18: 46,693,998 (GRCm39) S30A probably benign Het
Timp3 T C 10: 86,181,638 (GRCm39) S170P possibly damaging Het
Top1mt C T 15: 75,547,973 (GRCm39) E38K probably benign Het
Tpp1 G A 7: 105,398,171 (GRCm39) L331F probably damaging Het
Trpm7 A T 2: 126,654,941 (GRCm39) D1332E probably benign Het
Ttc23 A G 7: 67,319,476 (GRCm39) E112G possibly damaging Het
Ttn T C 2: 76,715,296 (GRCm39) probably benign Het
Ttn T A 2: 76,726,934 (GRCm39) probably benign Het
Ubr3 T A 2: 69,850,969 (GRCm39) C1796S probably damaging Het
Ugt2b34 C T 5: 87,040,675 (GRCm39) V416I probably benign Het
Uqcrb A G 13: 67,048,827 (GRCm39) probably benign Het
Vps26b A G 9: 26,921,760 (GRCm39) L255P probably benign Het
Wdr59 A G 8: 112,223,512 (GRCm39) V154A probably damaging Het
Other mutations in Crygc
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4340:Crygc UTSW 1 65,110,822 (GRCm39) missense probably benign 0.00
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
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'- AGGCAGGCATTTGAACACC -3'
(R):5'- CGAGGAGCAAATGATCTCATTCAG -3'

Sequencing Primer
(F):5'- GGCAGGCATTTGAACACCATTTAAC -3'
(R):5'- AGATCACCTTCTTCGAGGACCG -3'
Posted On 2018-10-18