Incidental Mutation 'R1583:Crybg2'
ID 177239
Institutional Source Beutler Lab
Gene Symbol Crybg2
Ensembl Gene ENSMUSG00000012123
Gene Name crystallin beta-gamma domain containing 2
Synonyms Aim1l
MMRRC Submission 039620-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.867) question?
Stock # R1583 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 134060815-134092504 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134081459 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1415 (S1415P)
Ref Sequence ENSEMBL: ENSMUSP00000154159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121391] [ENSMUST00000149956] [ENSMUST00000227683]
AlphaFold A0A2I3BQG2
Predicted Effect probably damaging
Transcript: ENSMUST00000121391
AA Change: S1106P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: S1106P

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: ENSMUST00000137529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149504
Predicted Effect probably damaging
Transcript: ENSMUST00000149956
AA Change: S144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123
AA Change: S144P

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: ENSMUST00000153392
Predicted Effect probably damaging
Transcript: ENSMUST00000227683
AA Change: S1415P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6443 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 76,882,681 (GRCm38) S691P probably benign Het
Adgrb3 T C 1: 25,226,831 (GRCm38) probably null Het
Ankar A G 1: 72,679,555 (GRCm38) probably benign Het
Aplf A T 6: 87,646,033 (GRCm38) Y355N probably damaging Het
Bms1 A G 6: 118,389,389 (GRCm38) probably benign Het
Catsperb T C 12: 101,463,114 (GRCm38) I182T probably damaging Het
Cd300ld2 T C 11: 115,013,777 (GRCm38) D88G probably benign Het
Cebpz T C 17: 78,934,752 (GRCm38) N491S probably damaging Het
Ddc A G 11: 11,829,131 (GRCm38) V331A probably benign Het
Decr2 T C 17: 26,083,024 (GRCm38) E244G probably damaging Het
Dhrs11 A G 11: 84,823,117 (GRCm38) M136T probably damaging Het
Eapp G A 12: 54,685,948 (GRCm38) Q126* probably null Het
Fam111a T A 19: 12,587,778 (GRCm38) V297D probably damaging Het
Fam84a G A 12: 14,150,408 (GRCm38) A106V probably benign Het
Fbxo10 A C 4: 45,062,118 (GRCm38) L136R probably damaging Het
Fbxo30 T A 10: 11,291,374 (GRCm38) H613Q possibly damaging Het
Frk A T 10: 34,591,810 (GRCm38) probably null Het
Gm10392 T A 11: 77,517,481 (GRCm38) D104V probably benign Het
Gm960 T A 19: 4,652,171 (GRCm38) K282N probably damaging Het
Gpn1 A G 5: 31,497,338 (GRCm38) E78G possibly damaging Het
Hhip T C 8: 79,990,276 (GRCm38) Y506C probably damaging Het
Hid1 G A 11: 115,356,750 (GRCm38) S274L possibly damaging Het
Immp2l G T 12: 41,703,765 (GRCm38) probably benign Het
Klhl21 T C 4: 152,009,624 (GRCm38) F228L possibly damaging Het
Lamc1 T A 1: 153,243,478 (GRCm38) probably null Het
Lars G A 18: 42,210,050 (GRCm38) R1101C probably damaging Het
Magi2 T C 5: 19,227,332 (GRCm38) V15A probably benign Het
Map2k7 T C 8: 4,243,621 (GRCm38) probably null Het
Mga T A 2: 119,963,960 (GRCm38) H2590Q possibly damaging Het
Mlxip T C 5: 123,450,223 (GRCm38) I238T possibly damaging Het
Mylk T A 16: 34,875,586 (GRCm38) D230E probably benign Het
Nacad T A 11: 6,601,185 (GRCm38) T669S probably benign Het
Nin C T 12: 70,031,738 (GRCm38) M1691I probably benign Het
Nlrp4d C T 7: 10,382,237 (GRCm38) A203T probably damaging Het
Olfr1204 T G 2: 88,852,262 (GRCm38) F104C probably damaging Het
Olfr1301 A T 2: 111,754,425 (GRCm38) M59L probably damaging Het
Olfr1495 A T 19: 13,768,510 (GRCm38) H56L probably benign Het
Olfr201 A G 16: 59,269,031 (GRCm38) V212A probably benign Het
Olfr433 T C 1: 174,042,480 (GRCm38) F177L probably benign Het
Olfr729 C A 14: 50,148,774 (GRCm38) M33I probably benign Het
Osbp C A 19: 11,977,829 (GRCm38) Q282K probably benign Het
Osbpl2 A G 2: 180,148,463 (GRCm38) S177G probably damaging Het
Pax1 A G 2: 147,366,255 (GRCm38) H261R possibly damaging Het
Pcif1 A T 2: 164,886,727 (GRCm38) L274F probably damaging Het
Pkhd1 A G 1: 20,117,825 (GRCm38) S3420P probably benign Het
Prss3 A C 6: 41,377,627 (GRCm38) probably benign Het
Ptk2b T C 14: 66,163,114 (GRCm38) T751A possibly damaging Het
Pus10 T C 11: 23,673,239 (GRCm38) V126A probably damaging Het
Rai14 A C 15: 10,587,916 (GRCm38) D258E probably damaging Het
Rbp3 T C 14: 33,954,524 (GRCm38) V143A possibly damaging Het
Sarm1 G A 11: 78,483,327 (GRCm38) Q625* probably null Het
Scgb1b21 T G 7: 33,527,667 (GRCm38) noncoding transcript Het
Scrn1 A T 6: 54,520,769 (GRCm38) V279E probably damaging Het
Sipa1l2 T C 8: 125,421,895 (GRCm38) T1670A probably damaging Het
Slc9a4 A T 1: 40,600,962 (GRCm38) I305F probably benign Het
Smarcc1 A G 9: 110,213,617 (GRCm38) T918A probably damaging Het
Tas2r109 A T 6: 132,980,426 (GRCm38) H180Q probably benign Het
Tas2r121 G A 6: 132,700,230 (GRCm38) R260* probably null Het
Tenm3 T C 8: 48,279,074 (GRCm38) D1249G probably benign Het
Tgtp1 C G 11: 48,987,530 (GRCm38) G116A probably damaging Het
Tial1 A G 7: 128,443,910 (GRCm38) Y317H probably damaging Het
Trim66 A T 7: 109,455,080 (GRCm38) W1308R probably damaging Het
Ulk2 T G 11: 61,783,545 (GRCm38) K878N possibly damaging Het
Zfp41 T A 15: 75,618,291 (GRCm38) S31T possibly damaging Het
Other mutations in Crybg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Crybg2 APN 4 134,075,444 (GRCm38) missense possibly damaging 0.57
IGL01147:Crybg2 APN 4 134,089,264 (GRCm38) splice site probably null
IGL02003:Crybg2 APN 4 134,072,456 (GRCm38) missense probably benign
IGL02468:Crybg2 APN 4 134,082,587 (GRCm38) missense probably damaging 1.00
R0089:Crybg2 UTSW 4 134,081,194 (GRCm38) missense probably damaging 1.00
R0414:Crybg2 UTSW 4 134,072,636 (GRCm38) small deletion probably benign
R0579:Crybg2 UTSW 4 134,072,738 (GRCm38) missense probably damaging 0.97
R0634:Crybg2 UTSW 4 134,075,304 (GRCm38) splice site probably benign
R0638:Crybg2 UTSW 4 134,074,454 (GRCm38) missense probably damaging 1.00
R0686:Crybg2 UTSW 4 134,074,526 (GRCm38) small deletion probably benign
R1651:Crybg2 UTSW 4 134,074,903 (GRCm38) missense probably benign 0.07
R1651:Crybg2 UTSW 4 134,074,825 (GRCm38) missense possibly damaging 0.84
R1752:Crybg2 UTSW 4 134,073,650 (GRCm38) missense probably damaging 0.96
R1883:Crybg2 UTSW 4 134,074,283 (GRCm38) nonsense probably null
R1903:Crybg2 UTSW 4 134,078,856 (GRCm38) missense probably damaging 1.00
R2042:Crybg2 UTSW 4 134,087,533 (GRCm38) missense possibly damaging 0.89
R2081:Crybg2 UTSW 4 134,088,820 (GRCm38) missense possibly damaging 0.82
R2229:Crybg2 UTSW 4 134,074,526 (GRCm38) small deletion probably benign
R2321:Crybg2 UTSW 4 134,074,511 (GRCm38) missense probably benign 0.38
R2392:Crybg2 UTSW 4 134,072,614 (GRCm38) missense probably benign 0.01
R2939:Crybg2 UTSW 4 134,082,434 (GRCm38) missense possibly damaging 0.46
R2940:Crybg2 UTSW 4 134,082,434 (GRCm38) missense possibly damaging 0.46
R3028:Crybg2 UTSW 4 134,073,784 (GRCm38) missense probably benign 0.19
R4458:Crybg2 UTSW 4 134,074,894 (GRCm38) missense probably benign 0.32
R4487:Crybg2 UTSW 4 134,074,201 (GRCm38) missense probably benign 0.00
R4680:Crybg2 UTSW 4 134,072,718 (GRCm38) frame shift probably null
R4681:Crybg2 UTSW 4 134,072,718 (GRCm38) frame shift probably null
R4682:Crybg2 UTSW 4 134,072,718 (GRCm38) frame shift probably null
R4766:Crybg2 UTSW 4 134,089,352 (GRCm38) missense probably damaging 1.00
R5079:Crybg2 UTSW 4 134,074,253 (GRCm38) missense possibly damaging 0.83
R5291:Crybg2 UTSW 4 134,073,427 (GRCm38) missense probably benign 0.00
R5453:Crybg2 UTSW 4 134,078,836 (GRCm38) critical splice acceptor site probably null
R5711:Crybg2 UTSW 4 134,082,627 (GRCm38) missense probably damaging 0.97
R5834:Crybg2 UTSW 4 134,074,123 (GRCm38) missense probably benign 0.12
R5969:Crybg2 UTSW 4 134,075,692 (GRCm38) splice site probably null
R5976:Crybg2 UTSW 4 134,074,526 (GRCm38) small deletion probably benign
R6022:Crybg2 UTSW 4 134,074,273 (GRCm38) nonsense probably null
R6046:Crybg2 UTSW 4 134,092,077 (GRCm38) missense probably damaging 1.00
R6088:Crybg2 UTSW 4 134,075,790 (GRCm38) splice site probably null
R6196:Crybg2 UTSW 4 134,081,139 (GRCm38) missense probably damaging 0.99
R6246:Crybg2 UTSW 4 134,089,346 (GRCm38) missense probably damaging 0.96
R6303:Crybg2 UTSW 4 134,087,587 (GRCm38) missense possibly damaging 0.66
R6320:Crybg2 UTSW 4 134,081,426 (GRCm38) missense probably damaging 1.00
R6354:Crybg2 UTSW 4 134,091,136 (GRCm38) missense probably benign 0.39
R6737:Crybg2 UTSW 4 134,072,690 (GRCm38) missense probably damaging 0.99
R6744:Crybg2 UTSW 4 134,088,896 (GRCm38) missense probably damaging 1.00
R6847:Crybg2 UTSW 4 134,065,546 (GRCm38) missense probably benign 0.40
R6891:Crybg2 UTSW 4 134,081,837 (GRCm38) missense probably benign 0.32
R7043:Crybg2 UTSW 4 134,091,136 (GRCm38) missense probably benign 0.39
R7133:Crybg2 UTSW 4 134,065,443 (GRCm38) missense probably benign 0.09
R7166:Crybg2 UTSW 4 134,060,882 (GRCm38) missense probably damaging 0.96
R7412:Crybg2 UTSW 4 134,074,123 (GRCm38) missense probably benign 0.12
R7711:Crybg2 UTSW 4 134,065,533 (GRCm38) missense probably benign 0.00
R7745:Crybg2 UTSW 4 134,088,845 (GRCm38) missense possibly damaging 0.92
R7782:Crybg2 UTSW 4 134,073,826 (GRCm38) missense probably benign 0.00
R7871:Crybg2 UTSW 4 134,087,599 (GRCm38) missense probably damaging 1.00
R7943:Crybg2 UTSW 4 134,072,984 (GRCm38) missense probably damaging 0.97
R8008:Crybg2 UTSW 4 134,091,104 (GRCm38) missense probably damaging 1.00
R8017:Crybg2 UTSW 4 134,073,173 (GRCm38) missense possibly damaging 0.95
R8292:Crybg2 UTSW 4 134,075,531 (GRCm38) missense probably damaging 1.00
R8391:Crybg2 UTSW 4 134,075,724 (GRCm38) missense probably damaging 0.97
R8510:Crybg2 UTSW 4 134,073,359 (GRCm38) missense probably benign
R8535:Crybg2 UTSW 4 134,081,203 (GRCm38) missense probably damaging 1.00
R8695:Crybg2 UTSW 4 134,065,455 (GRCm38) missense possibly damaging 0.55
R8789:Crybg2 UTSW 4 134,074,243 (GRCm38) missense probably benign 0.00
R8870:Crybg2 UTSW 4 134,091,214 (GRCm38) missense possibly damaging 0.88
R9052:Crybg2 UTSW 4 134,075,724 (GRCm38) missense probably damaging 0.97
R9071:Crybg2 UTSW 4 134,091,231 (GRCm38) missense probably damaging 1.00
R9088:Crybg2 UTSW 4 134,072,579 (GRCm38) missense probably damaging 0.99
R9154:Crybg2 UTSW 4 134,065,309 (GRCm38) missense probably benign 0.02
R9440:Crybg2 UTSW 4 134,074,291 (GRCm38) missense probably benign 0.00
R9540:Crybg2 UTSW 4 134,088,914 (GRCm38) missense probably damaging 0.98
R9606:Crybg2 UTSW 4 134,074,072 (GRCm38) nonsense probably null
R9641:Crybg2 UTSW 4 134,089,309 (GRCm38) nonsense probably null
R9719:Crybg2 UTSW 4 134,065,837 (GRCm38) missense probably benign 0.01
R9734:Crybg2 UTSW 4 134,074,651 (GRCm38) missense probably benign 0.00
X0064:Crybg2 UTSW 4 134,089,276 (GRCm38) missense probably damaging 0.98
Z1176:Crybg2 UTSW 4 134,082,660 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACAACCTTCAGCAGCCTGAGGAC -3'
(R):5'- ACGATGCAAACCCGTAGGAGTG -3'

Sequencing Primer
(F):5'- GGTCCCTGCGAATCCTTG -3'
(R):5'- TAGGAGTGCCCAGATCTCAG -3'
Posted On 2014-04-24