Incidental Mutation 'R4458:Crybg2'
ID 329996
Institutional Source Beutler Lab
Gene Symbol Crybg2
Ensembl Gene ENSMUSG00000012123
Gene Name crystallin beta-gamma domain containing 2
Synonyms Aim1l
MMRRC Submission 041718-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R4458 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 133788126-133819815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133802205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1122 (P1122S)
Ref Sequence ENSEMBL: ENSMUSP00000154159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121391] [ENSMUST00000137053] [ENSMUST00000149956] [ENSMUST00000219402] [ENSMUST00000227683]
AlphaFold A0A2I3BQG2
Predicted Effect probably benign
Transcript: ENSMUST00000121391
AA Change: P813S

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: P813S

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 probably benign
Transcript: ENSMUST00000137053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149504
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 probably benign
Transcript: ENSMUST00000219402
Predicted Effect probably benign
Transcript: ENSMUST00000227683
AA Change: P1122S

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630076J17Rik G A 3: 107,139,997 (GRCm39) probably null Het
Akap13 A G 7: 75,389,213 (GRCm39) D2377G probably damaging Het
Ankrd44 A T 1: 54,801,550 (GRCm39) I56N possibly damaging Het
Apob T A 12: 8,065,445 (GRCm39) I4105N probably damaging Het
Arhgap5 T A 12: 52,564,740 (GRCm39) N570K probably benign Het
Arid1b A T 17: 5,293,191 (GRCm39) Q703L probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cad T A 5: 31,218,570 (GRCm39) V499D probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Celsr2 A C 3: 108,302,313 (GRCm39) I2605S probably damaging Het
Chd6 T A 2: 160,871,796 (GRCm39) Y213F possibly damaging Het
Clec18a T A 8: 111,802,102 (GRCm39) T296S probably damaging Het
Cyld G T 8: 89,445,929 (GRCm39) S309I probably benign Het
Dctn5 G T 7: 121,734,303 (GRCm39) R49L probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Erbin C A 13: 103,970,065 (GRCm39) V1184F probably damaging Het
Ercc2 G T 7: 19,127,771 (GRCm39) R406L probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Flad1 T C 3: 89,316,241 (GRCm39) H107R probably benign Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gabbr1 G T 17: 37,378,667 (GRCm39) probably null Het
Haghl A T 17: 26,003,994 (GRCm39) V30E probably damaging Het
Itga5 C T 15: 103,258,630 (GRCm39) E822K probably damaging Het
Klhl26 T A 8: 70,905,342 (GRCm39) E108D possibly damaging Het
Kpnb1 A T 11: 97,059,996 (GRCm39) L558Q probably damaging Het
Lias T C 5: 65,551,383 (GRCm39) probably null Het
Ltbp1 A T 17: 75,583,502 (GRCm39) K434M possibly damaging Het
Marchf1 C A 8: 66,908,823 (GRCm39) A177E probably damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Nol4 T C 18: 22,885,052 (GRCm39) I419V probably damaging Het
Nol6 A G 4: 41,115,888 (GRCm39) L1068P probably damaging Het
Nrcam T C 12: 44,606,513 (GRCm39) S420P probably damaging Het
Or10c1 A T 17: 37,522,204 (GRCm39) I180N possibly damaging Het
Pitpnm2 T C 5: 124,259,439 (GRCm39) T1299A probably benign Het
Prdm16 A G 4: 154,406,765 (GRCm39) V1220A probably benign Het
Saraf T C 8: 34,621,870 (GRCm39) S25P unknown Het
Serpine3 C A 14: 62,911,922 (GRCm39) L295I probably damaging Het
Sntb2 G A 8: 107,718,239 (GRCm39) probably null Het
Surf6 T C 2: 26,782,721 (GRCm39) E202G probably benign Het
Tent5a T C 9: 85,208,527 (GRCm39) I99V possibly damaging Het
Th A T 7: 142,450,690 (GRCm39) D135E probably benign Het
Traf1 A G 2: 34,835,445 (GRCm39) Y326H probably damaging Het
Tshz2 G A 2: 169,727,008 (GRCm39) A66T probably benign Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Ubqlnl A G 7: 103,798,396 (GRCm39) V367A probably benign Het
Uspl1 T A 5: 149,150,962 (GRCm39) S707T possibly damaging Het
Utp18 A G 11: 93,761,359 (GRCm39) S350P possibly damaging Het
Vmn1r177 A G 7: 23,565,645 (GRCm39) V77A possibly damaging Het
Vmn1r229 A G 17: 21,034,894 (GRCm39) I46M probably damaging Het
Vnn3 T C 10: 23,741,567 (GRCm39) Y291H probably benign Het
Vps9d1 A G 8: 123,974,487 (GRCm39) S267P probably benign Het
Wrn T A 8: 33,785,026 (GRCm39) T692S probably damaging Het
Yeats2 T C 16: 20,032,071 (GRCm39) I19T probably damaging Het
Zfp13 G A 17: 23,800,150 (GRCm39) A36V 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
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
R6246:Crybg2 UTSW 4 133,816,657 (GRCm39) missense probably damaging 0.96
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'- AGTAACCGACCTACTTCCCG -3'
(R):5'- AGCCATTTGGAATCTATACACTCCAC -3'

Sequencing Primer
(F):5'- GACCTACTTCCCGCCTGG -3'
(R):5'- TCCACTATACTAGGTCACTGAGAC -3'
Posted On 2015-07-21