Incidental Mutation 'R0022:Cryga'
ID 64777
Institutional Source Beutler Lab
Gene Symbol Cryga
Ensembl Gene ENSMUSG00000044429
Gene Name crystallin, gamma A
Synonyms DGcry-4, Cryg-4, Secc
MMRRC Submission 038317-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0022 (G1)
Quality Score 117
Status Validated
Chromosome 1
Chromosomal Location 65139552-65142532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65142382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 4 (I4V)
Ref Sequence ENSEMBL: ENSMUSP00000058548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050047] [ENSMUST00000061497] [ENSMUST00000144760] [ENSMUST00000148020]
AlphaFold P04345
Predicted Effect probably benign
Transcript: ENSMUST00000050047
SMART Domains Protein: ENSMUSP00000056196
Gene: ENSMUSG00000044816

DomainStartEndE-ValueType
low complexity region 165 179 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000061497
AA Change: I4V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058548
Gene: ENSMUSG00000044429
AA Change: I4V

DomainStartEndE-ValueType
XTALbg 3 82 2.52e-47 SMART
XTALbg 89 170 3.59e-43 SMART
Predicted Effect silent
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 0.3796 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.8%
Validation Efficiency 100% (68/68)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,587,485 (GRCm39) probably null Het
Arhgap29 G A 3: 121,782,586 (GRCm39) V91I possibly damaging Het
Aste1 T A 9: 105,273,823 (GRCm39) L21* probably null Het
Bpifb5 A T 2: 154,072,268 (GRCm39) D325V probably damaging Het
Btbd10 G A 7: 112,924,988 (GRCm39) Q287* probably null Het
Cdc20 T A 4: 118,292,686 (GRCm39) H354L probably damaging Het
Cdhr3 G A 12: 33,132,263 (GRCm39) T120I probably damaging Het
Col5a2 G A 1: 45,422,843 (GRCm39) R1125* probably null Het
Col9a3 A G 2: 180,261,549 (GRCm39) D613G probably damaging Het
Coro7 C T 16: 4,451,168 (GRCm39) R507H probably benign Het
Cracdl C T 1: 37,667,326 (GRCm39) R240Q probably damaging Het
Crebbp A T 16: 3,903,092 (GRCm39) V2049E probably damaging Het
D930020B18Rik A G 10: 121,507,675 (GRCm39) T138A probably damaging Het
Dclre1b G T 3: 103,710,464 (GRCm39) H482Q probably benign Het
Dpy19l2 A G 9: 24,607,420 (GRCm39) S14P probably benign Het
Elavl3 C A 9: 21,948,167 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,503 (GRCm39) V220A probably damaging Het
Exoc7 A T 11: 116,188,408 (GRCm39) I297N possibly damaging Het
Gdpd4 A T 7: 97,632,082 (GRCm39) N332Y probably damaging Het
Ggct C A 6: 54,962,887 (GRCm39) E175* probably null Het
Gm5316 T C 6: 122,877,354 (GRCm39) noncoding transcript Het
Hoxa7 T C 6: 52,194,363 (GRCm39) N8S probably damaging Het
Ifi208 A G 1: 173,510,612 (GRCm39) T256A possibly damaging Het
Il12rb2 A G 6: 67,275,903 (GRCm39) F630S probably damaging Het
Kit A G 5: 75,783,657 (GRCm39) N378S probably benign Het
Lmntd1 T A 6: 145,375,716 (GRCm39) Y74F probably benign Het
Lrp1b A T 2: 40,888,050 (GRCm39) probably benign Het
Ltbp1 T A 17: 75,671,355 (GRCm39) V1194D probably damaging Het
Mc5r T G 18: 68,471,853 (GRCm39) S71A probably benign Het
Mcm7 T C 5: 138,162,981 (GRCm39) *390W probably null Het
Myo18a T C 11: 77,734,059 (GRCm39) probably null Het
Naa25 C A 5: 121,556,039 (GRCm39) L276M probably damaging Het
Nlrp1a T G 11: 71,014,207 (GRCm39) T348P probably damaging Het
Nlrp1b T G 11: 71,052,755 (GRCm39) K888T possibly damaging Het
Or4f53 A G 2: 111,087,994 (GRCm39) Y178C probably benign Het
Pabpc6 A T 17: 9,888,145 (GRCm39) N135K probably benign Het
Pdzd2 G A 15: 12,371,691 (GRCm39) A2568V possibly damaging Het
Pik3r2 A G 8: 71,223,545 (GRCm39) F346S probably damaging Het
Pkd1 T C 17: 24,813,793 (GRCm39) W4086R probably damaging Het
Plekhb2 G A 1: 34,905,320 (GRCm39) probably benign Het
Plxnb2 A G 15: 89,047,479 (GRCm39) probably null Het
Pmfbp1 C T 8: 110,252,039 (GRCm39) R395W probably damaging Het
Pnldc1 A G 17: 13,109,006 (GRCm39) Y497H probably damaging Het
Ppp1ca T G 19: 4,244,580 (GRCm39) V213G possibly damaging Het
Rapgef2 G A 3: 78,995,207 (GRCm39) R814C probably damaging Het
Relch T A 1: 105,619,627 (GRCm39) probably benign Het
Rnasel A T 1: 153,636,521 (GRCm39) I634F probably damaging Het
Rnf157 A T 11: 116,240,276 (GRCm39) probably benign Het
Ryr3 A G 2: 112,471,011 (GRCm39) S4567P probably damaging Het
Smcr8 T A 11: 60,671,185 (GRCm39) W778R probably damaging Het
Stat1 T A 1: 52,179,789 (GRCm39) L333Q probably damaging Het
Strc A G 2: 121,198,874 (GRCm39) L1391P probably damaging Het
Tek G A 4: 94,725,509 (GRCm39) V592M probably damaging Het
Top1 A C 2: 160,544,719 (GRCm39) K278N possibly damaging Het
Utrn C T 10: 12,585,700 (GRCm39) probably benign Het
Wdr7 T C 18: 63,910,705 (GRCm39) I699T probably damaging Het
Zfp30 A G 7: 29,491,860 (GRCm39) E119G possibly damaging Het
Other mutations in Cryga
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02584:Cryga APN 1 65,142,175 (GRCm39) missense probably benign 0.00
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
R4427:Cryga UTSW 1 65,139,775 (GRCm39) missense probably damaging 1.00
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'- ATGGAGTCGCTGAAACCCATCCAC -3'
(R):5'- TCCCAAATGACAAAGCGCGAGG -3'

Sequencing Primer
(F):5'- TGAAACCCATCCACTGCTGG -3'
(R):5'- GTGGTTCTTGCCAACACAG -3'
Posted On 2013-08-06