Incidental Mutation 'IGL00852:Crygd'
ID 278018
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 # IGL00852
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
Cfap157 T A 2: 32,669,827 (GRCm39) Q252L possibly damaging Het
Chd9 C A 8: 91,699,835 (GRCm39) Q622K probably benign Het
Cypt15-ps A T X: 38,435,507 (GRCm39) R56* probably null Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Dmxl2 A T 9: 54,330,597 (GRCm39) L721* probably null Het
Dsc2 C T 18: 20,167,740 (GRCm39) V718I probably benign Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Epb41l1 C T 2: 156,345,638 (GRCm39) L214F probably damaging Het
Ibtk A C 9: 85,595,654 (GRCm39) Y971D probably benign Het
Lancl1 G A 1: 67,043,996 (GRCm39) L335F probably damaging Het
Pcm1 T C 8: 41,740,858 (GRCm39) W1035R probably damaging Het
Pkn2 T A 3: 142,515,577 (GRCm39) probably benign Het
Ranbp2 G A 10: 58,313,723 (GRCm39) R1481Q probably benign Het
Scn5a T C 9: 119,366,748 (GRCm39) N313S probably benign Het
Septin10 A G 10: 59,028,642 (GRCm39) probably benign Het
Serpinb6c A T 13: 34,081,321 (GRCm39) probably null Het
Slc22a19 C T 19: 7,660,323 (GRCm39) M362I probably benign Het
Spmip4 T A 6: 50,566,164 (GRCm39) probably null Het
Tnni3k T A 3: 154,760,206 (GRCm39) Q43L probably benign Het
Trpm3 T A 19: 22,964,435 (GRCm39) V1310D possibly damaging Het
Zdhhc13 T A 7: 48,455,349 (GRCm39) S260R 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
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
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