Incidental Mutation 'R9241:Cryge'
ID 700723
Institutional Source Beutler Lab
Gene Symbol Cryge
Ensembl Gene ENSMUSG00000070870
Gene Name crystallin, gamma E
Synonyms Cryg-6
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9241 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 65087713-65090308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 65088018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 97 (D97A)
Ref Sequence ENSEMBL: ENSMUSP00000084617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087359] [ENSMUST00000161960]
AlphaFold Q03740
Predicted Effect possibly damaging
Transcript: ENSMUST00000087359
AA Change: D97A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084617
Gene: ENSMUSG00000070870
AA Change: D97A

DomainStartEndE-ValueType
XTALbg 3 82 3.46e-45 SMART
XTALbg 89 170 5.4e-47 SMART
Predicted Effect unknown
Transcript: ENSMUST00000161960
AA Change: T128P
SMART Domains Protein: ENSMUSP00000124711
Gene: ENSMUSG00000070870
AA Change: T128P

DomainStartEndE-ValueType
low complexity region 35 73 N/A INTRINSIC
low complexity region 121 130 N/A INTRINSIC
low complexity region 145 156 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (51/52)
MGI Phenotype PHENOTYPE: Mutations in this gene produce severe, nuclear and zonular cataracts with microphthalmia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,937 (GRCm39) L390P probably damaging Het
AL732309.1 T A 2: 25,135,919 (GRCm39) E98D possibly damaging Het
Aldh2 T C 5: 121,710,220 (GRCm39) I372V probably benign Het
Amph G T 13: 19,278,972 (GRCm39) R149L probably damaging Het
Ano6 T C 15: 95,688,887 (GRCm39) V8A probably benign Het
Aox4 T A 1: 58,291,345 (GRCm39) V821E probably damaging Het
Baz2b T A 2: 59,743,993 (GRCm39) Q1504L probably benign Het
Cdcp1 C A 9: 123,014,301 (GRCm39) G158W probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Dyrk1b A G 7: 27,886,058 (GRCm39) T594A probably benign Het
Emilin3 T C 2: 160,750,177 (GRCm39) D477G possibly damaging Het
Fat2 T C 11: 55,147,566 (GRCm39) H3892R probably benign Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gm9922 A T 14: 101,967,220 (GRCm39) S11T unknown Het
Hcfc2 T C 10: 82,568,485 (GRCm39) V43A probably benign Het
Hcn1 T C 13: 117,793,249 (GRCm39) F167S probably benign Het
Jag1 T C 2: 136,926,507 (GRCm39) I1012M probably damaging Het
Kash5 A G 7: 44,833,313 (GRCm39) I603T probably benign Het
Lepr G T 4: 101,671,788 (GRCm39) M937I probably benign Het
Macf1 T C 4: 123,271,952 (GRCm39) D6532G probably damaging Het
Mapk13 A T 17: 28,990,187 (GRCm39) D102V probably damaging Het
Mapt A T 11: 104,189,797 (GRCm39) T272S probably benign Het
Mfap3 A G 11: 57,420,672 (GRCm39) T218A probably damaging Het
Mki67 A T 7: 135,297,653 (GRCm39) H2460Q possibly damaging Het
Nalcn G T 14: 123,809,429 (GRCm39) P241Q probably benign Het
Nup50 A G 15: 84,822,611 (GRCm39) T378A possibly damaging Het
Oprl1 C T 2: 181,360,405 (GRCm39) R154C probably damaging Het
Or2n1e A G 17: 38,585,781 (GRCm39) M40V probably benign Het
Pcdha8 C T 18: 37,127,008 (GRCm39) R497W probably damaging Het
Pik3c2a A G 7: 116,017,115 (GRCm39) V214A probably benign Het
Plekha5 T C 6: 140,525,204 (GRCm39) probably null Het
Pole3 A G 4: 62,442,845 (GRCm39) probably benign Het
Prkn A T 17: 11,456,382 (GRCm39) I69L probably benign Het
Psd3 G T 8: 68,415,967 (GRCm39) N357K probably benign Het
Psme4 A T 11: 30,815,576 (GRCm39) D1696V probably damaging Het
Reln C T 5: 22,174,067 (GRCm39) R2012Q probably damaging Het
Saxo2 T C 7: 82,284,250 (GRCm39) T203A probably benign Het
Scgb1a1 T C 19: 9,065,293 (GRCm39) probably benign Het
Selplg T A 5: 113,957,647 (GRCm39) N220Y possibly damaging Het
Septin9 C A 11: 117,109,724 (GRCm39) R15S probably benign Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smarca4 T G 9: 21,550,604 (GRCm39) S446A possibly damaging Het
Smc1b T C 15: 84,976,209 (GRCm39) N833D probably benign Het
Son T A 16: 91,454,122 (GRCm39) D956E probably damaging Het
Sorl1 A T 9: 41,885,420 (GRCm39) Y2060* probably null Het
Tesmin T C 19: 3,439,010 (GRCm39) F21L probably benign Het
Tmem200c G T 17: 69,144,161 (GRCm39) probably benign Het
Tnk2 A C 16: 32,488,916 (GRCm39) D252A probably damaging Het
Tpcn1 C T 5: 120,691,558 (GRCm39) V299I probably benign Het
Trpv1 A G 11: 73,151,182 (GRCm39) N790S probably benign Het
Zfhx4 C T 3: 5,308,697 (GRCm39) T641I probably damaging Het
Zfp563 A T 17: 33,321,520 (GRCm39) Q45L probably benign Het
Zswim9 A T 7: 13,003,360 (GRCm39) D163E probably damaging Het
Other mutations in Cryge
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01668:Cryge APN 1 65,087,857 (GRCm39) missense probably damaging 1.00
R1023:Cryge UTSW 1 65,089,945 (GRCm39) missense probably damaging 1.00
R1159:Cryge UTSW 1 65,089,967 (GRCm39) missense probably benign 0.00
R1463:Cryge UTSW 1 65,087,997 (GRCm39) nonsense probably null
R4850:Cryge UTSW 1 65,090,211 (GRCm39) intron probably benign
R4851:Cryge UTSW 1 65,090,211 (GRCm39) intron probably benign
R6551:Cryge UTSW 1 65,087,796 (GRCm39) missense probably benign 0.00
R8338:Cryge UTSW 1 65,087,933 (GRCm39) missense unknown
R8459:Cryge UTSW 1 65,087,841 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- AGAAATCCATGATTCTCCTCAGAG -3'
(R):5'- TCGTTCTGGCATAGAAAAGCTAGG -3'

Sequencing Primer
(F):5'- ATTCATGGCGCCCCAGTC -3'
(R):5'- TCAGGTTTTCTGACGTCC -3'
Posted On 2022-02-07