Incidental Mutation 'R2206:Crygs'
ID 239076
Institutional Source Beutler Lab
Gene Symbol Crygs
Ensembl Gene ENSMUSG00000033501
Gene Name crystallin, gamma S
Synonyms Opj
MMRRC Submission 040208-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2206 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 22623953-22630160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22624301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 102 (G102D)
Ref Sequence ENSEMBL: ENSMUSP00000043588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040592]
AlphaFold O35486
PDB Structure NMR structure of murine gamma-S crystallin [SOLUTION NMR]
NMR structure of murine gamma-S crystallin [SOLUTION NMR]
NMR structure of murine gamma-S crystallin from joint refinement with SAXS data [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040592
AA Change: G102D

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043588
Gene: ENSMUSG00000033501
AA Change: G102D

DomainStartEndE-ValueType
XTALbg 7 86 5.98e-40 SMART
XTALbg 95 176 6.26e-43 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene can cause cataracts and/or disrupted lens fiber cell morphology and organization. Aging mice homozygous for a knock-out allele do not develop cataracts but show focusing defects associated with inefficient clearance of cellular organelles and altered actin distribution. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,964,331 (GRCm39) C24S probably benign Het
2410137M14Rik A G 17: 37,288,965 (GRCm39) probably benign Het
Abhd18 G A 3: 40,865,008 (GRCm39) G83D probably benign Het
Adam34 T C 8: 44,105,274 (GRCm39) I124V probably benign Het
Adck2 A G 6: 39,560,773 (GRCm39) D123G probably damaging Het
Arhgef2 A G 3: 88,537,221 (GRCm39) E37G probably damaging Het
Axl T C 7: 25,470,061 (GRCm39) Y466C probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bpifb9a A T 2: 154,106,161 (GRCm39) probably null Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
Cacna1h A T 17: 25,603,987 (GRCm39) S1282T probably benign Het
Calcr T C 6: 3,717,133 (GRCm39) Y109C probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cst13 A T 2: 148,665,202 (GRCm39) R66W probably damaging Het
Cstf2t A G 19: 31,061,175 (GRCm39) N237S probably benign Het
Dhx8 A G 11: 101,641,797 (GRCm39) T632A probably benign Het
Disp2 G T 2: 118,622,725 (GRCm39) Q1152H probably benign Het
Dlg1 A G 16: 31,672,664 (GRCm39) H599R probably benign Het
Dmxl1 T C 18: 50,027,161 (GRCm39) S2090P probably benign Het
Dnajc13 C G 9: 104,080,717 (GRCm39) V821L probably damaging Het
Dop1a T A 9: 86,403,652 (GRCm39) H1617Q probably benign Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Ephb4 T C 5: 137,355,981 (GRCm39) C197R probably damaging Het
Foxn1 C A 11: 78,249,630 (GRCm39) A632S probably benign Het
Fpr3 A C 17: 18,190,908 (GRCm39) T60P probably damaging Het
Gja4 A T 4: 127,206,410 (GRCm39) S118T probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Itfg1 A T 8: 86,502,827 (GRCm39) S246R probably benign Het
Kazn A T 4: 141,845,603 (GRCm39) probably null Het
Mdn1 T C 4: 32,716,271 (GRCm39) L2111P possibly damaging Het
Myo6 A G 9: 80,165,737 (GRCm39) Y374C probably benign Het
Odad2 C A 18: 7,223,676 (GRCm39) G456W probably benign Het
Or1a1 G T 11: 74,087,150 (GRCm39) V274L possibly damaging Het
Or1j16 G T 2: 36,530,201 (GRCm39) R50M possibly damaging Het
Or5b99 A G 19: 12,976,404 (GRCm39) D18G probably benign Het
Or9m1b A G 2: 87,836,579 (GRCm39) V181A probably benign Het
Pcdhb15 A T 18: 37,608,075 (GRCm39) T436S probably benign Het
Pcdhb18 T A 18: 37,624,342 (GRCm39) N557K probably damaging Het
Pcdhb6 T C 18: 37,468,633 (GRCm39) M518T probably benign Het
Pcmtd1 A T 1: 7,239,807 (GRCm39) I83L probably benign Het
Pitrm1 T A 13: 6,619,327 (GRCm39) Y721N probably damaging Het
Prcp C T 7: 92,577,820 (GRCm39) T328I probably damaging Het
Psg27 C A 7: 18,301,036 (GRCm39) E6* probably null Het
Pth1r T A 9: 110,552,655 (GRCm39) E465V probably damaging Het
Pus7l T C 15: 94,421,471 (GRCm39) Y613C probably damaging Het
Rsl1 A G 13: 67,330,892 (GRCm39) T447A probably benign Het
Setd3 C T 12: 108,073,544 (GRCm39) V578M probably benign Het
Slc10a1 T C 12: 81,014,402 (GRCm39) N106S probably damaging Het
Slc29a3 T C 10: 60,551,686 (GRCm39) M453V possibly damaging Het
Slc4a8 T C 15: 100,705,326 (GRCm39) V844A probably damaging Het
Sorcs1 T C 19: 50,218,655 (GRCm39) H609R possibly damaging Het
Spata31d1e A G 13: 59,890,920 (GRCm39) V300A probably benign Het
Tmppe C G 9: 114,234,640 (GRCm39) P313R probably benign Het
Tnxb A C 17: 34,928,391 (GRCm39) T2602P possibly damaging Het
Trip11 T C 12: 101,839,701 (GRCm39) N1643S probably benign Het
Trmt1l T C 1: 151,311,594 (GRCm39) probably null Het
Vmn1r177 A T 7: 23,565,556 (GRCm39) C107S probably damaging Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Wdr7 T A 18: 63,910,678 (GRCm39) V690E possibly damaging Het
Xaf1 A T 11: 72,194,228 (GRCm39) E36D possibly damaging Het
Zbtb40 G A 4: 136,744,596 (GRCm39) Q275* probably null Het
Zfp513 T G 5: 31,357,767 (GRCm39) K202T probably damaging Het
Other mutations in Crygs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Crygs APN 16 22,625,312 (GRCm39) missense possibly damaging 0.81
R1694:Crygs UTSW 16 22,625,425 (GRCm39) splice site probably null
R1932:Crygs UTSW 16 22,625,304 (GRCm39) missense probably benign 0.12
R2207:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2275:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2298:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2299:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2300:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2326:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2329:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2330:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2331:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2332:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2857:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2895:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2896:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2921:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R2922:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3120:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3196:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3427:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3609:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3611:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3625:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3693:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3694:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3695:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3870:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3871:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R3876:Crygs UTSW 16 22,625,262 (GRCm39) missense probably damaging 1.00
R4052:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R4207:Crygs UTSW 16 22,624,301 (GRCm39) missense possibly damaging 0.93
R4299:Crygs UTSW 16 22,624,161 (GRCm39) nonsense probably null
R4630:Crygs UTSW 16 22,624,268 (GRCm39) missense possibly damaging 0.90
R7392:Crygs UTSW 16 22,625,252 (GRCm39) missense probably benign 0.35
R7573:Crygs UTSW 16 22,624,069 (GRCm39) makesense probably null
R7954:Crygs UTSW 16 22,624,082 (GRCm39) missense probably damaging 1.00
R7955:Crygs UTSW 16 22,624,082 (GRCm39) missense probably damaging 1.00
R7957:Crygs UTSW 16 22,624,082 (GRCm39) missense probably damaging 1.00
R8172:Crygs UTSW 16 22,625,292 (GRCm39) missense probably damaging 1.00
R9653:Crygs UTSW 16 22,625,304 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- GAACTCTATGGTCCCACTCCAG -3'
(R):5'- CCAGAGTTCTGATGACCCTC -3'

Sequencing Primer
(F):5'- TCACTCCACAATGCGGCG -3'
(R):5'- TGATGACCCTCCCTTAAGGATGAG -3'
Posted On 2014-10-02