Incidental Mutation 'IGL00772:Crygd'
ID 277900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crygd
Ensembl Gene ENSMUSG00000067299
Gene Name crystallin, gamma D
Synonyms Aey4, DGcry-1, Cryg-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # IGL00772
Quality Score
Status
Chromosome 1
Chromosomal Location 65101031-65102611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65101250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 115 (R115Q)
Ref Sequence ENSEMBL: ENSMUSP00000045327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045028] [ENSMUST00000146122]
AlphaFold P04342
Predicted Effect probably benign
Transcript: ENSMUST00000045028
AA Change: R115Q

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045327
Gene: ENSMUSG00000067299
AA Change: R115Q

DomainStartEndE-ValueType
XTALbg 3 82 3.23e-45 SMART
XTALbg 89 170 4.09e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127762
Predicted Effect probably benign
Transcript: ENSMUST00000146122
SMART Domains Protein: ENSMUSP00000122528
Gene: ENSMUSG00000067299

DomainStartEndE-ValueType
XTALbg 1 79 1.77e-42 SMART
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A T 1: 59,209,055 (GRCm39) C1501* probably null Het
Ap3b2 T C 7: 81,121,697 (GRCm39) E513G probably damaging Het
Cdh19 T C 1: 110,876,982 (GRCm39) D119G probably damaging Het
Clasp2 A G 9: 113,735,060 (GRCm39) probably benign Het
Cobl A G 11: 12,216,985 (GRCm39) M419T probably benign Het
Ctu2 T C 8: 123,203,977 (GRCm39) probably benign Het
Dnah2 A C 11: 69,342,083 (GRCm39) Y2968D probably damaging Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Folh1 A G 7: 86,380,992 (GRCm39) S494P probably damaging Het
Fras1 T A 5: 96,783,971 (GRCm39) I825N probably benign Het
Grk1 A G 8: 13,455,349 (GRCm39) T78A probably benign Het
Lipi A T 16: 75,347,254 (GRCm39) probably benign Het
Mak A T 13: 41,209,296 (GRCm39) probably benign Het
Prkd1 T C 12: 50,430,199 (GRCm39) E636G probably damaging Het
Psmd1 T C 1: 86,017,920 (GRCm39) probably benign Het
Scara5 G A 14: 65,908,011 (GRCm39) probably benign Het
Skint8 A G 4: 111,796,120 (GRCm39) I265V probably benign Het
Slc48a1 A G 15: 97,687,835 (GRCm39) Y63C probably damaging Het
Slc4a2 G T 5: 24,640,194 (GRCm39) V598L probably damaging Het
Smo A T 6: 29,758,893 (GRCm39) K565* probably null Het
Spink5 A G 18: 44,139,487 (GRCm39) I617V probably benign Het
Tmed11 T C 5: 108,934,031 (GRCm39) D55G probably benign Het
Tro A G X: 149,438,321 (GRCm39) V112A probably benign Het
Utrn G A 10: 12,524,929 (GRCm39) R2185C probably benign 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
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
R9617:Crygd UTSW 1 65,102,369 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16