Incidental Mutation 'IGL00650:Crygd'
ID 278539
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 # IGL00650
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik A G 11: 81,784,694 (GRCm39) probably benign Het
9130230L23Rik T C 5: 66,147,187 (GRCm39) N76S unknown Het
Chm A G X: 111,953,292 (GRCm39) F574S probably damaging Het
Dnah3 A G 7: 119,538,128 (GRCm39) I3619T possibly damaging Het
Dock11 A T X: 35,270,246 (GRCm39) probably benign Het
Duox1 T A 2: 122,163,622 (GRCm39) M818K possibly damaging Het
Ghrhr A G 6: 55,356,110 (GRCm39) T68A probably benign Het
Hltf T C 3: 20,159,796 (GRCm39) probably benign Het
Inpp5f T A 7: 128,265,991 (GRCm39) W211R probably benign Het
Jcad A G 18: 4,675,692 (GRCm39) I1151M probably benign Het
Klra9 T C 6: 130,156,060 (GRCm39) K232E probably benign Het
Mycbp2 T C 14: 103,380,664 (GRCm39) N3664S probably damaging Het
Ndst2 A C 14: 20,779,736 (GRCm39) I168S possibly damaging Het
Nmral1 A T 16: 4,534,240 (GRCm39) L67Q probably benign Het
Nrk G T X: 137,873,670 (GRCm39) V322F probably damaging Het
Qpct G A 17: 79,378,318 (GRCm39) V163M probably damaging Het
Rsf1 T C 7: 97,331,096 (GRCm39) probably null Het
Scn1a C T 2: 66,111,137 (GRCm39) G1484D probably damaging Het
Skic3 A G 13: 76,275,626 (GRCm39) D411G possibly damaging Het
Xpo5 T C 17: 46,519,172 (GRCm39) Y204H probably damaging Het
Zrsr2 A T X: 162,722,313 (GRCm39) M313K 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
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
R9617:Crygd UTSW 1 65,102,369 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16