Incidental Mutation 'R9617:Crygd'
ID 726486
Institutional Source Beutler Lab
Gene Symbol Crygd
Ensembl Gene ENSMUSG00000067299
Gene Name crystallin, gamma D
Synonyms Aey4, DGcry-1, Cryg-1
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R9617 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 65101031-65102611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65102369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 34 (N34S)
Ref Sequence ENSEMBL: ENSMUSP00000045327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045028] [ENSMUST00000146122]
AlphaFold P04342
Predicted Effect probably damaging
Transcript: ENSMUST00000045028
AA Change: N34S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045327
Gene: ENSMUSG00000067299
AA Change: N34S

DomainStartEndE-ValueType
XTALbg 3 82 3.23e-45 SMART
XTALbg 89 170 4.09e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000146122
AA Change: N31S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122528
Gene: ENSMUSG00000067299
AA Change: N31S

DomainStartEndE-ValueType
XTALbg 1 79 1.77e-42 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Heterozygotes for a spontaneous mutation exhibit a dense nuclear cataract and mild microphthalmia by 2-months of age, followed by posterior capsular rupture into the posterior vitreous by 3-months. In homozygotes, the microphthalmia is more pronounced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik C T 3: 68,777,402 (GRCm39) P121L probably damaging Het
4930442H23Rik C T 10: 81,018,976 (GRCm39) V16I unknown Het
4930444P10Rik T C 1: 16,139,051 (GRCm39) M97V probably benign Het
Abcb1a A T 5: 8,797,353 (GRCm39) probably null Het
Abhd5 T C 9: 122,197,035 (GRCm39) I74T probably benign Het
Ankle2 T A 5: 110,399,409 (GRCm39) F590I probably damaging Het
C2cd6 T C 1: 59,097,848 (GRCm39) S414G probably benign Het
Catsperd G A 17: 56,968,252 (GRCm39) D546N probably benign Het
Cep295nl G T 11: 118,224,000 (GRCm39) H281Q possibly damaging Het
Cfap69 T C 5: 5,639,164 (GRCm39) E670G probably damaging Het
Cfh A T 1: 140,090,718 (GRCm39) V90E possibly damaging Het
Cnksr3 A C 10: 7,079,021 (GRCm39) probably null Het
Cntrl T A 2: 35,035,077 (GRCm39) F901L probably benign Het
Coch T A 12: 51,645,034 (GRCm39) M196K probably damaging Het
Ctdp1 A T 18: 80,492,962 (GRCm39) I511N probably benign Het
Dhx30 C T 9: 109,926,186 (GRCm39) A142T probably damaging Het
Dlg2 T C 7: 92,087,284 (GRCm39) probably null Het
Dmxl1 A G 18: 49,998,228 (GRCm39) D776G probably damaging Het
Dnm3 C T 1: 162,149,354 (GRCm39) G197D probably damaging Het
Eif4g3 A G 4: 137,824,190 (GRCm39) H91R probably damaging Het
Ephb6 A G 6: 41,596,258 (GRCm39) M844V probably damaging Het
Erc1 T C 6: 119,773,902 (GRCm39) E351G probably benign Het
Etfbkmt G A 6: 149,045,744 (GRCm39) G33R probably benign Het
Fnbp4 T C 2: 90,588,738 (GRCm39) I503T probably benign Het
Gm6370 A T 5: 146,429,993 (GRCm39) Q143L probably benign Het
Gnas T C 2: 174,141,988 (GRCm39) V719A possibly damaging Het
H13 C A 2: 152,530,873 (GRCm39) D219E probably damaging Het
Hhatl G A 9: 121,618,191 (GRCm39) T188I possibly damaging Het
Ifi27l2b C T 12: 103,422,683 (GRCm39) A45T probably damaging Het
Kbtbd8 T C 6: 95,103,874 (GRCm39) C585R possibly damaging Het
Limk2 A G 11: 3,297,715 (GRCm39) S473P probably damaging Het
Lrba G A 3: 86,267,169 (GRCm39) G1620S probably benign Het
Lrrtm2 T C 18: 35,346,490 (GRCm39) T271A probably benign Het
Map3k4 A G 17: 12,476,871 (GRCm39) S759P possibly damaging Het
Mybphl G T 3: 108,282,952 (GRCm39) V247F possibly damaging Het
Myh10 T A 11: 68,682,815 (GRCm39) V1120D probably benign Het
Naip1 T C 13: 100,569,821 (GRCm39) N271S probably benign Het
Napepld C T 5: 21,875,561 (GRCm39) V328I probably damaging Het
Nucb1 A G 7: 45,148,159 (GRCm39) V218A probably benign Het
Nup107 A T 10: 117,593,238 (GRCm39) D813E probably benign Het
Or14j3 T A 17: 37,901,053 (GRCm39) K64* probably null Het
Or5g29 T A 2: 85,421,279 (GRCm39) Y132N probably damaging Het
Or6c35 A T 10: 129,168,794 (GRCm39) T15S probably damaging Het
Or8g52 A G 9: 39,630,678 (GRCm39) S52G possibly damaging Het
Pabpc2 T C 18: 39,907,602 (GRCm39) I289T probably benign Het
Parg A G 14: 31,960,569 (GRCm39) I600V probably benign Het
Patj T C 4: 98,393,991 (GRCm39) F975L probably benign Het
Pcdhb17 A G 18: 37,618,218 (GRCm39) T3A probably benign Het
Piezo2 T C 18: 63,248,108 (GRCm39) E464G probably benign Het
Pkd1 T A 17: 24,800,341 (GRCm39) V3034D probably damaging Het
Pld2 A G 11: 70,447,944 (GRCm39) E869G probably damaging Het
Plek T A 11: 16,945,311 (GRCm39) L29F possibly damaging Het
Prelp A G 1: 133,842,416 (GRCm39) L243P probably damaging Het
Rapgef5 T A 12: 117,621,930 (GRCm39) D231E probably benign Het
Riok1 A G 13: 38,244,016 (GRCm39) E514G probably benign Het
Rmdn2 T C 17: 79,928,790 (GRCm39) M14T probably benign Het
Rorb G A 19: 18,939,499 (GRCm39) Q228* probably null Het
Scmh1 T A 4: 120,340,827 (GRCm39) M171K probably damaging Het
Scn9a A G 2: 66,392,809 (GRCm39) L261P probably damaging Het
Senp7 A T 16: 55,971,652 (GRCm39) N263I probably benign Het
Slc11a1 G T 1: 74,419,041 (GRCm39) A162S probably benign Het
Slc6a17 A G 3: 107,384,685 (GRCm39) V305A probably damaging Het
Snph A T 2: 151,435,422 (GRCm39) V502E probably damaging Het
Sost G T 11: 101,854,892 (GRCm39) A139E possibly damaging Het
Srp54a A T 12: 55,136,061 (GRCm39) E25D probably benign Het
Tmeff1 T A 4: 48,636,940 (GRCm39) C213S probably damaging Het
Tmem232 A T 17: 65,807,180 (GRCm39) Y4* probably null Het
Tmem63c T G 12: 87,103,361 (GRCm39) I45S probably benign Het
Ttbk1 C T 17: 46,757,998 (GRCm39) G879S probably damaging Het
Ugt1a7c A G 1: 88,022,952 (GRCm39) H37R probably damaging Het
Vmn1r236 T C 17: 21,507,053 (GRCm39) L57P probably damaging Het
Wnk2 T A 13: 49,192,453 (GRCm39) E675V unknown Het
Wnt10b T C 15: 98,674,609 (GRCm39) T43A probably damaging Het
Wnt8a C A 18: 34,680,163 (GRCm39) T176K probably benign Het
Zfp937 T A 2: 150,080,452 (GRCm39) C161S probably damaging Het
Other mutations in Crygd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00639:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00640:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00650:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00654:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00732:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00755:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00772:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00788:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00852:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00861:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00863:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00864:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00885:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL00886:Crygd APN 1 65,101,250 (GRCm39) missense probably benign 0.32
IGL01939:Crygd APN 1 65,101,185 (GRCm39) missense probably benign
L23 UTSW 1 65,102,243 (GRCm39) missense probably damaging 1.00
R1400:Crygd UTSW 1 65,102,367 (GRCm39) missense probably damaging 1.00
R1528:Crygd UTSW 1 65,102,216 (GRCm39) critical splice donor site probably null
R1862:Crygd UTSW 1 65,101,133 (GRCm39) missense probably benign 0.03
R2077:Crygd UTSW 1 65,102,405 (GRCm39) missense probably damaging 1.00
R9308:Crygd UTSW 1 65,101,220 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGGCTCAGCTCTGCTTTCAAC -3'
(R):5'- TCCTCATTTTGGGAAGGGACC -3'

Sequencing Primer
(F):5'- CTTATACTGGCAACTGCAGTCAGG -3'
(R):5'- CTTGCCTTACAGATCACCT -3'
Posted On 2022-10-06