Incidental Mutation 'R4427:Cryga'
ID 328213
Institutional Source Beutler Lab
Gene Symbol Cryga
Ensembl Gene ENSMUSG00000044429
Gene Name crystallin, gamma A
Synonyms DGcry-4, Cryg-4, Secc
MMRRC Submission 041145-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4427 (G1)
Quality Score 214
Status Validated
Chromosome 1
Chromosomal Location 65139552-65142532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65139775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 121 (I121N)
Ref Sequence ENSEMBL: ENSMUSP00000058548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061497] [ENSMUST00000144760] [ENSMUST00000148020]
AlphaFold P04345
Predicted Effect probably damaging
Transcript: ENSMUST00000061497
AA Change: I121N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058548
Gene: ENSMUSG00000044429
AA Change: I121N

DomainStartEndE-ValueType
XTALbg 3 82 2.52e-47 SMART
XTALbg 89 170 3.59e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144760
SMART Domains Protein: ENSMUSP00000140504
Gene: ENSMUSG00000100846

DomainStartEndE-ValueType
low complexity region 97 111 N/A INTRINSIC
low complexity region 124 150 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148020
SMART Domains Protein: ENSMUSP00000120090
Gene: ENSMUSG00000044816

DomainStartEndE-ValueType
low complexity region 159 173 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154012
Meta Mutation Damage Score 0.7166 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 96% (48/50)
MGI Phenotype FUNCTION: Three main families of major soluble proteins, the alpha, beta and gamma crystallins, are ubiquitously expressed in vertebrate lenses. This gene encodes a member of the gamma-crystallin family of proteins which may function as a structural component of the eye lens. 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. Five gamma-crystallin genes (gamma-A through gamma-E) are tandemly organized in a genomic segment as a gene cluster in the mouse. Another gamma-crystallin gene (gamma-F) is found some distance upstream of the cluster on the same chromosome. 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 an ethylnitrosourea-induced replacement mutation exhibit a diffuse nuclear opacity of the lens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,278,678 (GRCm39) noncoding transcript Het
A2ml1 T C 6: 128,522,009 (GRCm39) E1271G probably benign Het
Ccdc88b C T 19: 6,827,940 (GRCm39) E878K probably damaging Het
Cfap119 A G 7: 127,187,288 (GRCm39) probably benign Het
Crybg3 T C 16: 59,363,562 (GRCm39) K2441E probably damaging Het
Dst A T 1: 34,220,541 (GRCm39) Q2115L probably benign Het
Evi2 T A 11: 79,407,182 (GRCm39) Q131L possibly damaging Het
Exoc1 A G 5: 76,711,110 (GRCm39) I61V probably benign Het
Firrm A G 1: 163,781,853 (GRCm39) V858A probably benign Het
Frem2 A G 3: 53,446,583 (GRCm39) probably null Het
Gas2l1 A G 11: 5,013,908 (GRCm39) V184A probably benign Het
Gsto2 T C 19: 47,860,212 (GRCm39) S2P possibly damaging Het
Herc1 T C 9: 66,403,287 (GRCm39) L4402P probably damaging Het
Kcnd2 T A 6: 21,216,896 (GRCm39) I200N probably damaging Het
Klhl30 A G 1: 91,281,426 (GRCm39) D9G probably damaging Het
Ltf C A 9: 110,852,672 (GRCm39) T178K probably damaging Het
Memo1 T A 17: 74,509,302 (GRCm39) Y239F probably benign Het
Ogdh C T 11: 6,305,421 (GRCm39) T972I probably benign Het
Phactr4 T C 4: 132,114,352 (GRCm39) D24G possibly damaging Het
Pi4ka C T 16: 17,098,908 (GRCm39) R1992H probably damaging Het
Poc1b T C 10: 98,991,001 (GRCm39) probably null Het
Ppp1r9b A T 11: 94,892,150 (GRCm39) R188S possibly damaging Het
Pwwp2a T C 11: 43,573,344 (GRCm39) V142A possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rcsd1 C A 1: 165,483,464 (GRCm39) V206L probably damaging Het
Rps6ka2 T A 17: 7,566,804 (GRCm39) D687E possibly damaging Het
Sgce G A 6: 4,691,459 (GRCm39) A295V probably damaging Het
Siglec15 T G 18: 78,086,836 (GRCm39) E341A possibly damaging Het
Tcaim T C 9: 122,643,561 (GRCm39) F87S probably benign Het
Thbs2 C A 17: 14,900,597 (GRCm39) V537L probably benign Het
Timd6 T A 11: 46,475,247 (GRCm39) F147L probably benign Het
Tmx3 T A 18: 90,541,725 (GRCm39) V158D probably damaging Het
Tpm1 A G 9: 66,939,847 (GRCm39) probably benign Het
Trmt2a A G 16: 18,067,093 (GRCm39) probably benign Het
Ugcg T A 4: 59,219,555 (GRCm39) F297L probably benign Het
Utp18 T C 11: 93,757,264 (GRCm39) N467D probably damaging Het
Vmn2r73 A G 7: 85,506,981 (GRCm39) F777S probably damaging Het
Vwc2 A G 11: 11,104,235 (GRCm39) T256A probably damaging Het
Zfp300 C T X: 20,949,405 (GRCm39) V120I possibly damaging Het
Zfp982 A T 4: 147,597,080 (GRCm39) R146* probably null Het
Other mutations in Cryga
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02584:Cryga APN 1 65,142,175 (GRCm39) missense probably benign 0.00
R0022:Cryga UTSW 1 65,142,382 (GRCm39) missense probably damaging 0.97
R0448:Cryga UTSW 1 65,142,318 (GRCm39) missense probably benign 0.16
R0457:Cryga UTSW 1 65,142,204 (GRCm39) missense probably damaging 1.00
R1742:Cryga UTSW 1 65,142,280 (GRCm39) missense probably benign 0.38
R5860:Cryga UTSW 1 65,142,527 (GRCm39) unclassified probably benign
R6267:Cryga UTSW 1 65,142,169 (GRCm39) missense probably benign
R6372:Cryga UTSW 1 65,142,204 (GRCm39) missense probably damaging 1.00
R7272:Cryga UTSW 1 65,142,381 (GRCm39) missense probably damaging 1.00
R8909:Cryga UTSW 1 65,142,173 (GRCm39) missense probably benign 0.42
R9158:Cryga UTSW 1 65,142,198 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGTGCCAGGAACACAGGTTG -3'
(R):5'- CGCCCGAAAGCTGTGTTTTG -3'

Sequencing Primer
(F):5'- TGCATATATGGGCTGTAACAAGC -3'
(R):5'- CCGAAAGCTGTGTTTTGGGACG -3'
Posted On 2015-07-07