Incidental Mutation 'R6246:Crybg2'
ID 505767
Institutional Source Beutler Lab
Gene Symbol Crybg2
Ensembl Gene ENSMUSG00000012123
Gene Name crystallin beta-gamma domain containing 2
Synonyms Aim1l
MMRRC Submission 044436-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R6246 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 133788126-133819815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133816657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1365 (L1365P)
Ref Sequence ENSEMBL: ENSMUSP00000114099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000696] [ENSMUST00000121391] [ENSMUST00000227683] [ENSMUST00000149956]
AlphaFold A0A2I3BQG2
Predicted Effect probably benign
Transcript: ENSMUST00000000696
SMART Domains Protein: ENSMUSP00000000696
Gene: ENSMUSG00000000682

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:CD52 23 74 1.4e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121391
AA Change: L1365P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: L1365P

DomainStartEndE-ValueType
low complexity region 171 205 N/A INTRINSIC
low complexity region 210 226 N/A INTRINSIC
low complexity region 414 443 N/A INTRINSIC
low complexity region 560 582 N/A INTRINSIC
low complexity region 608 625 N/A INTRINSIC
coiled coil region 683 703 N/A INTRINSIC
low complexity region 812 824 N/A INTRINSIC
XTALbg 842 921 2.56e-7 SMART
XTALbg 929 1010 9.33e-10 SMART
XTALbg 1024 1110 5.06e-29 SMART
XTALbg 1118 1199 1.4e-22 SMART
XTALbg 1212 1291 2.22e-16 SMART
XTALbg 1299 1379 1.69e-16 SMART
RICIN 1383 1514 7.89e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143295
Predicted Effect possibly damaging
Transcript: ENSMUST00000227683
AA Change: L1674P

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000149956
SMART Domains Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123

DomainStartEndE-ValueType
XTALbg 1 60 1.39e-2 SMART
XTALbg 62 148 3.99e-27 SMART
XTALbg 156 237 1.4e-22 SMART
XTALbg 250 293 7.78e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153392
Meta Mutation Damage Score 0.5532 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (78/78)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,850,999 (GRCm39) V2110E probably damaging Het
Acaca C A 11: 84,206,796 (GRCm39) T1552K probably benign Het
Aknad1 A G 3: 108,659,148 (GRCm39) D54G probably damaging Het
Ano1 T C 7: 144,187,462 (GRCm39) T435A possibly damaging Het
Azgp1 A G 5: 137,983,475 (GRCm39) D50G possibly damaging Het
Bbx A G 16: 50,045,023 (GRCm39) S513P probably benign Het
Ccdc85a C T 11: 28,526,897 (GRCm39) S209N probably damaging Het
Cdca2 T A 14: 67,915,277 (GRCm39) R661* probably null Het
Cdhr2 T C 13: 54,867,523 (GRCm39) V451A probably damaging Het
Cenpt C T 8: 106,575,891 (GRCm39) G152S possibly damaging Het
Chd9 A G 8: 91,659,045 (GRCm39) T2A probably damaging Het
Chst14 G A 2: 118,757,482 (GRCm39) C117Y probably damaging Het
Cic C T 7: 24,971,067 (GRCm39) T266M probably damaging Het
Clec12a A T 6: 129,330,733 (GRCm39) N105I possibly damaging Het
Cmah G A 13: 24,650,773 (GRCm39) V525M probably damaging Het
Cplane1 T A 15: 8,239,498 (GRCm39) L1233H probably damaging Het
Cpt1a T C 19: 3,426,550 (GRCm39) L572P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg1 G A 16: 31,484,468 (GRCm39) S32N probably benign Het
Dnah14 T C 1: 181,508,453 (GRCm39) I1877T probably benign Het
Duox1 G T 2: 122,157,655 (GRCm39) G594C probably damaging Het
Eci2 T C 13: 35,174,181 (GRCm39) N127D probably damaging Het
Ecpas A G 4: 58,811,365 (GRCm39) probably null Het
Fat4 T C 3: 38,945,870 (GRCm39) S1588P probably damaging Het
Fer1l4 T A 2: 155,866,902 (GRCm39) I1489F probably damaging Het
Flrt3 A G 2: 140,501,721 (GRCm39) Y636H probably damaging Het
Frmd5 T A 2: 121,381,529 (GRCm39) H62L possibly damaging Het
Gm6309 A T 5: 146,107,050 (GRCm39) Y99N probably damaging Het
Gm8225 T C 17: 26,762,652 (GRCm39) V281A probably benign Het
Grep1 C A 17: 23,929,465 (GRCm39) G315* probably null Het
Grsf1 A G 5: 88,810,451 (GRCm39) L353P possibly damaging Het
Gtf2a1l A G 17: 88,978,975 (GRCm39) R58G probably benign Het
Guf1 G A 5: 69,715,898 (GRCm39) G113R probably damaging Het
Hfe A T 13: 23,892,212 (GRCm39) F51I probably damaging Het
Hibch T C 1: 52,943,801 (GRCm39) S250P probably damaging Het
Il1rap T A 16: 26,533,631 (GRCm39) M509K probably benign Het
Il4ra T C 7: 125,175,577 (GRCm39) V595A probably benign Het
Ints11 A G 4: 155,972,546 (GRCm39) T460A probably benign Het
Itprid1 A T 6: 55,944,657 (GRCm39) K459N probably damaging Het
Kdm5a G A 6: 120,408,871 (GRCm39) G1518E probably damaging Het
Khsrp T C 17: 57,332,324 (GRCm39) D289G possibly damaging Het
Kif14 C T 1: 136,404,162 (GRCm39) Q29* probably null Het
Krt72 T C 15: 101,689,372 (GRCm39) K320R probably damaging Het
Lcmt2 A G 2: 120,970,870 (GRCm39) L71P probably damaging Het
Lmo7 A T 14: 102,156,136 (GRCm39) D1037V probably damaging Het
Lpo T C 11: 87,713,058 (GRCm39) T15A unknown Het
Mia3 G T 1: 183,126,720 (GRCm39) T7N probably damaging Het
Muc16 A T 9: 18,488,363 (GRCm39) probably null Het
Mup9 T A 4: 60,375,809 (GRCm39) Y29F probably damaging Het
Nisch T C 14: 30,894,516 (GRCm39) D1105G probably damaging Het
Odad1 A G 7: 45,585,788 (GRCm39) I116V probably damaging Het
Oip5 T C 2: 119,446,101 (GRCm39) T136A probably benign Het
Or2a52 G A 6: 43,144,436 (GRCm39) probably null Het
Osbpl10 C A 9: 115,055,842 (GRCm39) N532K probably benign Het
P2ry12 C T 3: 59,124,950 (GRCm39) V242I probably benign Het
Pdhx A T 2: 102,877,137 (GRCm39) C26S probably damaging Het
Pgk2 A T 17: 40,518,315 (GRCm39) I371K probably damaging Het
Phyhip T C 14: 70,704,495 (GRCm39) V238A probably damaging Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Pld5 A T 1: 175,791,475 (GRCm39) C448* probably null Het
Plk1 T A 7: 121,768,659 (GRCm39) I553N probably damaging Het
Ppp1r13l T A 7: 19,103,783 (GRCm39) I88K probably benign Het
Rad54l2 A G 9: 106,577,692 (GRCm39) probably null Het
Septin7 A G 9: 25,218,817 (GRCm39) E428G probably benign Het
Serpina3j G A 12: 104,283,706 (GRCm39) G268D probably damaging Het
Smc2 A T 4: 52,460,289 (GRCm39) D555V probably damaging Het
Spag16 A T 1: 69,962,980 (GRCm39) I376F probably benign Het
Spag6 G A 2: 18,703,906 (GRCm39) probably null Het
Tecta T C 9: 42,289,204 (GRCm39) I454V probably benign Het
Tlcd3b T A 7: 126,426,668 (GRCm39) F30L probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Traf5 C T 1: 191,754,853 (GRCm39) E28K probably damaging Het
Trav23 G A 14: 54,214,885 (GRCm39) E33K probably damaging Het
Trim32 T C 4: 65,532,801 (GRCm39) S453P probably damaging Het
Tssk1 A G 16: 17,713,303 (GRCm39) T363A probably benign Het
Txnrd3 A G 6: 89,628,523 (GRCm39) N88S probably benign Het
Unc13b A G 4: 43,216,246 (GRCm39) S182G probably benign Het
Vmn2r89 A T 14: 51,693,503 (GRCm39) R284S probably damaging Het
Zbtb14 A G 17: 69,694,478 (GRCm39) T59A possibly damaging Het
Zcchc2 T A 1: 105,957,796 (GRCm39) S756T possibly damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Crybg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Crybg2 APN 4 133,802,755 (GRCm39) missense possibly damaging 0.57
IGL01147:Crybg2 APN 4 133,816,575 (GRCm39) splice site probably null
IGL02003:Crybg2 APN 4 133,799,767 (GRCm39) missense probably benign
IGL02468:Crybg2 APN 4 133,809,898 (GRCm39) missense probably damaging 1.00
R0089:Crybg2 UTSW 4 133,808,505 (GRCm39) missense probably damaging 1.00
R0414:Crybg2 UTSW 4 133,799,947 (GRCm39) small deletion probably benign
R0579:Crybg2 UTSW 4 133,800,049 (GRCm39) missense probably damaging 0.97
R0634:Crybg2 UTSW 4 133,802,615 (GRCm39) splice site probably benign
R0638:Crybg2 UTSW 4 133,801,765 (GRCm39) missense probably damaging 1.00
R0686:Crybg2 UTSW 4 133,801,837 (GRCm39) small deletion probably benign
R1583:Crybg2 UTSW 4 133,808,770 (GRCm39) missense probably damaging 1.00
R1651:Crybg2 UTSW 4 133,802,214 (GRCm39) missense probably benign 0.07
R1651:Crybg2 UTSW 4 133,802,136 (GRCm39) missense possibly damaging 0.84
R1752:Crybg2 UTSW 4 133,800,961 (GRCm39) missense probably damaging 0.96
R1883:Crybg2 UTSW 4 133,801,594 (GRCm39) nonsense probably null
R1903:Crybg2 UTSW 4 133,806,167 (GRCm39) missense probably damaging 1.00
R2042:Crybg2 UTSW 4 133,814,844 (GRCm39) missense possibly damaging 0.89
R2081:Crybg2 UTSW 4 133,816,131 (GRCm39) missense possibly damaging 0.82
R2229:Crybg2 UTSW 4 133,801,837 (GRCm39) small deletion probably benign
R2321:Crybg2 UTSW 4 133,801,822 (GRCm39) missense probably benign 0.38
R2392:Crybg2 UTSW 4 133,799,925 (GRCm39) missense probably benign 0.01
R2939:Crybg2 UTSW 4 133,809,745 (GRCm39) missense possibly damaging 0.46
R2940:Crybg2 UTSW 4 133,809,745 (GRCm39) missense possibly damaging 0.46
R3028:Crybg2 UTSW 4 133,801,095 (GRCm39) missense probably benign 0.19
R4458:Crybg2 UTSW 4 133,802,205 (GRCm39) missense probably benign 0.32
R4487:Crybg2 UTSW 4 133,801,512 (GRCm39) missense probably benign 0.00
R4680:Crybg2 UTSW 4 133,800,029 (GRCm39) frame shift probably null
R4681:Crybg2 UTSW 4 133,800,029 (GRCm39) frame shift probably null
R4682:Crybg2 UTSW 4 133,800,029 (GRCm39) frame shift probably null
R4766:Crybg2 UTSW 4 133,816,663 (GRCm39) missense probably damaging 1.00
R5079:Crybg2 UTSW 4 133,801,564 (GRCm39) missense possibly damaging 0.83
R5291:Crybg2 UTSW 4 133,800,738 (GRCm39) missense probably benign 0.00
R5453:Crybg2 UTSW 4 133,806,147 (GRCm39) critical splice acceptor site probably null
R5711:Crybg2 UTSW 4 133,809,938 (GRCm39) missense probably damaging 0.97
R5834:Crybg2 UTSW 4 133,801,434 (GRCm39) missense probably benign 0.12
R5969:Crybg2 UTSW 4 133,803,003 (GRCm39) splice site probably null
R5976:Crybg2 UTSW 4 133,801,837 (GRCm39) small deletion probably benign
R6022:Crybg2 UTSW 4 133,801,584 (GRCm39) nonsense probably null
R6046:Crybg2 UTSW 4 133,819,388 (GRCm39) missense probably damaging 1.00
R6088:Crybg2 UTSW 4 133,803,101 (GRCm39) splice site probably null
R6196:Crybg2 UTSW 4 133,808,450 (GRCm39) missense probably damaging 0.99
R6303:Crybg2 UTSW 4 133,814,898 (GRCm39) missense possibly damaging 0.66
R6320:Crybg2 UTSW 4 133,808,737 (GRCm39) missense probably damaging 1.00
R6354:Crybg2 UTSW 4 133,818,447 (GRCm39) missense probably benign 0.39
R6737:Crybg2 UTSW 4 133,800,001 (GRCm39) missense probably damaging 0.99
R6744:Crybg2 UTSW 4 133,816,207 (GRCm39) missense probably damaging 1.00
R6847:Crybg2 UTSW 4 133,792,857 (GRCm39) missense probably benign 0.40
R6891:Crybg2 UTSW 4 133,809,148 (GRCm39) missense probably benign 0.32
R7043:Crybg2 UTSW 4 133,818,447 (GRCm39) missense probably benign 0.39
R7133:Crybg2 UTSW 4 133,792,754 (GRCm39) missense probably benign 0.09
R7166:Crybg2 UTSW 4 133,788,193 (GRCm39) missense probably damaging 0.96
R7412:Crybg2 UTSW 4 133,801,434 (GRCm39) missense probably benign 0.12
R7711:Crybg2 UTSW 4 133,792,844 (GRCm39) missense probably benign 0.00
R7745:Crybg2 UTSW 4 133,816,156 (GRCm39) missense possibly damaging 0.92
R7782:Crybg2 UTSW 4 133,801,137 (GRCm39) missense probably benign 0.00
R7871:Crybg2 UTSW 4 133,814,910 (GRCm39) missense probably damaging 1.00
R7943:Crybg2 UTSW 4 133,800,295 (GRCm39) missense probably damaging 0.97
R8008:Crybg2 UTSW 4 133,818,415 (GRCm39) missense probably damaging 1.00
R8017:Crybg2 UTSW 4 133,800,484 (GRCm39) missense possibly damaging 0.95
R8292:Crybg2 UTSW 4 133,802,842 (GRCm39) missense probably damaging 1.00
R8391:Crybg2 UTSW 4 133,803,035 (GRCm39) missense probably damaging 0.97
R8510:Crybg2 UTSW 4 133,800,670 (GRCm39) missense probably benign
R8535:Crybg2 UTSW 4 133,808,514 (GRCm39) missense probably damaging 1.00
R8695:Crybg2 UTSW 4 133,792,766 (GRCm39) missense possibly damaging 0.55
R8789:Crybg2 UTSW 4 133,801,554 (GRCm39) missense probably benign 0.00
R8870:Crybg2 UTSW 4 133,818,525 (GRCm39) missense possibly damaging 0.88
R9052:Crybg2 UTSW 4 133,803,035 (GRCm39) missense probably damaging 0.97
R9071:Crybg2 UTSW 4 133,818,542 (GRCm39) missense probably damaging 1.00
R9088:Crybg2 UTSW 4 133,799,890 (GRCm39) missense probably damaging 0.99
R9154:Crybg2 UTSW 4 133,792,620 (GRCm39) missense probably benign 0.02
R9440:Crybg2 UTSW 4 133,801,602 (GRCm39) missense probably benign 0.00
R9540:Crybg2 UTSW 4 133,816,225 (GRCm39) missense probably damaging 0.98
R9606:Crybg2 UTSW 4 133,801,383 (GRCm39) nonsense probably null
R9641:Crybg2 UTSW 4 133,816,620 (GRCm39) nonsense probably null
R9719:Crybg2 UTSW 4 133,793,148 (GRCm39) missense probably benign 0.01
R9734:Crybg2 UTSW 4 133,801,962 (GRCm39) missense probably benign 0.00
X0064:Crybg2 UTSW 4 133,816,587 (GRCm39) missense probably damaging 0.98
Z1176:Crybg2 UTSW 4 133,809,971 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGACTTGCTAGCCTCTTC -3'
(R):5'- AGAGAATGAGGTCACCGGTC -3'

Sequencing Primer
(F):5'- GCAGAGGTTGTTCTAACATGTGTAC -3'
(R):5'- AATGAGGTCACCGGTCACCATG -3'
Posted On 2018-02-28