Incidental Mutation 'R6049:Crybg3'
ID 483476
Institutional Source Beutler Lab
Gene Symbol Crybg3
Ensembl Gene ENSMUSG00000022723
Gene Name beta-gamma crystallin domain containing 3
Synonyms Gm9581
MMRRC Submission 044217-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R6049 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 59312451-59421410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59364417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 2402 (T2402A)
Ref Sequence ENSEMBL: ENSMUSP00000156047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044604] [ENSMUST00000139989] [ENSMUST00000172910]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044604
AA Change: T688A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: T688A

DomainStartEndE-ValueType
low complexity region 258 273 N/A INTRINSIC
low complexity region 282 290 N/A INTRINSIC
XTALbg 430 516 2.78e-4 SMART
Pfam:Crystall 536 599 3.3e-7 PFAM
XTALbg 614 699 1.2e-21 SMART
XTALbg 707 790 5.73e-19 SMART
XTALbg 803 881 6.87e-5 SMART
XTALbg 889 969 1.28e-7 SMART
RICIN 972 1104 8.16e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139989
SMART Domains Protein: ENSMUSP00000122663
Gene: ENSMUSG00000022723

DomainStartEndE-ValueType
XTALbg 1 86 2.15e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172910
AA Change: T2402A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,088,520 (GRCm39) H229Y probably benign Het
Aadacl2fm2 A C 3: 59,659,570 (GRCm39) D341A probably damaging Het
Abcd2 A G 15: 91,062,439 (GRCm39) F500L probably benign Het
Adgb A G 10: 10,253,770 (GRCm39) L1190P probably damaging Het
Adgrv1 A G 13: 81,545,473 (GRCm39) V5604A probably benign Het
Ank2 T A 3: 126,736,669 (GRCm39) T3072S possibly damaging Het
Arhgap39 A G 15: 76,611,601 (GRCm39) probably null Het
C6 T C 15: 4,764,654 (GRCm39) C117R probably damaging Het
Cacna1a A G 8: 85,365,475 (GRCm39) E2206G probably damaging Het
Cd2bp2 A T 7: 126,793,007 (GRCm39) F338L probably damaging Het
Cemip2 A T 19: 21,803,490 (GRCm39) Q841L probably benign Het
Cngb1 T C 8: 95,997,470 (GRCm39) D575G probably damaging Het
Cplane2 T A 4: 140,945,473 (GRCm39) V108D probably benign Het
Crat A G 2: 30,293,553 (GRCm39) F63S probably damaging Het
Ctsq A G 13: 61,186,572 (GRCm39) probably null Het
Cux1 T C 5: 136,361,564 (GRCm39) R248G probably damaging Het
D7Ertd443e T C 7: 133,899,961 (GRCm39) H420R probably benign Het
Deup1 A G 9: 15,472,552 (GRCm39) F587L possibly damaging Het
Dnah6 T C 6: 73,063,149 (GRCm39) K2651R probably benign Het
Dnah7b A G 1: 46,124,762 (GRCm39) I144V probably benign Het
Dnajc1 T C 2: 18,236,511 (GRCm39) probably null Het
Fscb T C 12: 64,521,094 (GRCm39) N124S possibly damaging Het
Gabbr2 A G 4: 46,787,641 (GRCm39) Y341H probably damaging Het
Greb1 T A 12: 16,731,395 (GRCm39) I1648F probably damaging Het
Hace1 A T 10: 45,562,758 (GRCm39) N758Y probably damaging Het
Irs2 A C 8: 11,056,805 (GRCm39) D542E probably benign Het
Kat6a T A 8: 23,429,053 (GRCm39) H1469Q possibly damaging Het
Kif15 G A 9: 122,840,687 (GRCm39) R36K probably damaging Het
Krt42 C T 11: 100,157,886 (GRCm39) V193M probably damaging Het
Limch1 A T 5: 67,188,203 (GRCm39) E878V probably benign Het
Med18 G T 4: 132,187,024 (GRCm39) D158E probably benign Het
Med6 T C 12: 81,638,097 (GRCm39) N38S probably damaging Het
Mup13 T C 4: 61,183,596 (GRCm39) T76A probably benign Het
Nlrp4b T A 7: 10,448,640 (GRCm39) L281* probably null Het
Or5h23 A T 16: 58,906,509 (GRCm39) C112* probably null Het
Or7g28 C A 9: 19,272,640 (GRCm39) G4* probably null Het
Or9r3 A T 10: 129,948,481 (GRCm39) H59Q probably benign Het
Pde4d A T 13: 109,169,119 (GRCm39) R54* probably null Het
Pdpk1 A T 17: 24,317,109 (GRCm39) Y251* probably null Het
Pdzk1 A G 3: 96,758,979 (GRCm39) E128G probably benign Het
Phf12 A G 11: 77,918,996 (GRCm39) probably null Het
Pnliprp2 A G 19: 58,748,884 (GRCm39) E63G possibly damaging Het
Prkcd T C 14: 30,329,254 (GRCm39) E62G possibly damaging Het
Prl7b1 G T 13: 27,790,161 (GRCm39) D77E probably benign Het
Rbck1 G T 2: 152,165,094 (GRCm39) C85* probably null Het
Rfx3 A T 19: 27,779,795 (GRCm39) M481K probably damaging Het
Rmdn3 A G 2: 118,983,906 (GRCm39) F159L probably damaging Het
Rpusd3 A C 6: 113,394,802 (GRCm39) probably null Het
Ska1 T C 18: 74,335,671 (GRCm39) T100A probably benign Het
Slc1a3 T C 15: 8,675,177 (GRCm39) E276G probably damaging Het
Slc27a6 T A 18: 58,731,732 (GRCm39) Y361N probably damaging Het
Smc1b A G 15: 85,005,896 (GRCm39) L336S probably damaging Het
St7 A G 6: 17,694,347 (GRCm39) D46G possibly damaging Het
Supt5 A G 7: 28,014,622 (GRCm39) I1059T probably benign Het
Syne1 A T 10: 5,297,926 (GRCm39) S1124T possibly damaging Het
Szt2 A G 4: 118,260,185 (GRCm39) S54P probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tbc1d7 A C 13: 43,312,836 (GRCm39) M19R probably damaging Het
Tbpl2 T C 2: 23,985,004 (GRCm39) N47D possibly damaging Het
Tgfbr3 C T 5: 107,266,351 (GRCm39) A790T probably damaging Het
Tnr T C 1: 159,740,324 (GRCm39) V1166A probably damaging Het
Ttn G A 2: 76,676,654 (GRCm39) probably benign Het
Other mutations in Crybg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Crybg3 APN 16 59,350,803 (GRCm39) missense probably benign 0.15
IGL01305:Crybg3 APN 16 59,349,590 (GRCm39) missense probably damaging 1.00
IGL01809:Crybg3 APN 16 59,345,216 (GRCm39) critical splice donor site probably benign 0.00
IGL02247:Crybg3 APN 16 59,323,513 (GRCm39) missense probably damaging 1.00
IGL02252:Crybg3 APN 16 59,372,887 (GRCm39) splice site probably benign
IGL03036:Crybg3 APN 16 59,375,542 (GRCm39) missense possibly damaging 0.68
IGL03202:Crybg3 APN 16 59,315,072 (GRCm39) missense probably damaging 1.00
IGL03232:Crybg3 APN 16 59,350,731 (GRCm39) missense probably damaging 1.00
ANU22:Crybg3 UTSW 16 59,349,590 (GRCm39) missense probably damaging 1.00
R0052:Crybg3 UTSW 16 59,386,019 (GRCm39) splice site probably benign
R0335:Crybg3 UTSW 16 59,364,503 (GRCm39) missense probably damaging 1.00
R0691:Crybg3 UTSW 16 59,385,574 (GRCm39) critical splice donor site probably null
R1511:Crybg3 UTSW 16 59,374,475 (GRCm39) missense probably benign 0.01
R1579:Crybg3 UTSW 16 59,350,561 (GRCm39) missense probably damaging 1.00
R1965:Crybg3 UTSW 16 59,323,600 (GRCm39) missense probably damaging 1.00
R1982:Crybg3 UTSW 16 59,364,488 (GRCm39) missense possibly damaging 0.85
R2225:Crybg3 UTSW 16 59,375,041 (GRCm39) missense probably damaging 1.00
R4074:Crybg3 UTSW 16 59,376,120 (GRCm39) unclassified probably benign
R4210:Crybg3 UTSW 16 59,364,414 (GRCm39) missense probably damaging 1.00
R4393:Crybg3 UTSW 16 59,380,458 (GRCm39) unclassified probably benign
R4394:Crybg3 UTSW 16 59,380,458 (GRCm39) unclassified probably benign
R4397:Crybg3 UTSW 16 59,380,458 (GRCm39) unclassified probably benign
R4427:Crybg3 UTSW 16 59,363,562 (GRCm39) missense probably damaging 1.00
R4578:Crybg3 UTSW 16 59,350,564 (GRCm39) missense probably damaging 1.00
R4720:Crybg3 UTSW 16 59,360,180 (GRCm39) missense probably damaging 1.00
R4917:Crybg3 UTSW 16 59,350,782 (GRCm39) missense probably benign 0.14
R5007:Crybg3 UTSW 16 59,378,463 (GRCm39) unclassified probably benign
R5020:Crybg3 UTSW 16 59,375,159 (GRCm39) missense possibly damaging 0.55
R5155:Crybg3 UTSW 16 59,345,264 (GRCm39) missense possibly damaging 0.91
R5306:Crybg3 UTSW 16 59,380,356 (GRCm39) unclassified probably benign
R5342:Crybg3 UTSW 16 59,342,512 (GRCm39) missense probably damaging 1.00
R5687:Crybg3 UTSW 16 59,379,529 (GRCm39) missense probably benign 0.00
R5763:Crybg3 UTSW 16 59,374,973 (GRCm39) missense possibly damaging 0.74
R5860:Crybg3 UTSW 16 59,385,632 (GRCm39) missense probably damaging 1.00
R5950:Crybg3 UTSW 16 59,313,934 (GRCm39) unclassified probably benign
R6007:Crybg3 UTSW 16 59,374,837 (GRCm39) nonsense probably null
R6042:Crybg3 UTSW 16 59,370,838 (GRCm39) missense possibly damaging 0.70
R6242:Crybg3 UTSW 16 59,376,053 (GRCm39) missense probably benign
R6301:Crybg3 UTSW 16 59,350,701 (GRCm39) missense probably damaging 1.00
R6408:Crybg3 UTSW 16 59,316,053 (GRCm39) missense possibly damaging 0.71
R6724:Crybg3 UTSW 16 59,364,501 (GRCm39) missense probably benign 0.13
R6745:Crybg3 UTSW 16 59,372,607 (GRCm39) missense possibly damaging 0.93
R6777:Crybg3 UTSW 16 59,378,678 (GRCm39) unclassified probably benign
R6843:Crybg3 UTSW 16 59,380,159 (GRCm39) missense probably benign 0.22
R6914:Crybg3 UTSW 16 59,360,183 (GRCm39) missense possibly damaging 0.89
R6942:Crybg3 UTSW 16 59,360,183 (GRCm39) missense possibly damaging 0.89
R7033:Crybg3 UTSW 16 59,374,528 (GRCm39) missense probably damaging 1.00
R7091:Crybg3 UTSW 16 59,377,531 (GRCm39) missense possibly damaging 0.77
R7133:Crybg3 UTSW 16 59,357,167 (GRCm39) missense probably damaging 1.00
R7193:Crybg3 UTSW 16 59,379,956 (GRCm39) missense possibly damaging 0.87
R7204:Crybg3 UTSW 16 59,379,253 (GRCm39) missense probably benign 0.00
R7398:Crybg3 UTSW 16 59,377,688 (GRCm39) missense probably benign 0.38
R7666:Crybg3 UTSW 16 59,379,700 (GRCm39) nonsense probably null
R7691:Crybg3 UTSW 16 59,376,497 (GRCm39) missense not run
R7714:Crybg3 UTSW 16 59,379,236 (GRCm39) missense probably benign 0.19
R7860:Crybg3 UTSW 16 59,375,605 (GRCm39) missense probably benign 0.04
R7901:Crybg3 UTSW 16 59,377,907 (GRCm39) missense probably damaging 0.98
R8371:Crybg3 UTSW 16 59,377,414 (GRCm39) missense probably benign 0.00
R8394:Crybg3 UTSW 16 59,378,651 (GRCm39) missense probably benign 0.06
R8438:Crybg3 UTSW 16 59,385,655 (GRCm39) missense probably benign 0.02
R8529:Crybg3 UTSW 16 59,376,984 (GRCm39) missense probably damaging 0.98
R8699:Crybg3 UTSW 16 59,375,291 (GRCm39) missense probably damaging 1.00
R8766:Crybg3 UTSW 16 59,375,696 (GRCm39) missense probably benign 0.05
R8767:Crybg3 UTSW 16 59,376,500 (GRCm39) missense probably benign
R8789:Crybg3 UTSW 16 59,375,359 (GRCm39) missense probably benign 0.00
R8871:Crybg3 UTSW 16 59,378,519 (GRCm39) missense probably benign
R8878:Crybg3 UTSW 16 59,380,547 (GRCm39) missense probably benign 0.09
R8894:Crybg3 UTSW 16 59,342,552 (GRCm39) missense probably damaging 0.97
R8928:Crybg3 UTSW 16 59,376,715 (GRCm39) missense probably benign 0.40
R8928:Crybg3 UTSW 16 59,315,123 (GRCm39) missense probably benign 0.31
R8939:Crybg3 UTSW 16 59,376,512 (GRCm39) missense probably benign 0.00
R9010:Crybg3 UTSW 16 59,374,702 (GRCm39) missense probably damaging 0.98
R9266:Crybg3 UTSW 16 59,372,544 (GRCm39) missense probably damaging 0.99
R9348:Crybg3 UTSW 16 59,421,256 (GRCm39) start codon destroyed probably null 0.66
R9353:Crybg3 UTSW 16 59,421,107 (GRCm39) critical splice donor site probably null
R9406:Crybg3 UTSW 16 59,378,839 (GRCm39) missense probably benign 0.42
R9429:Crybg3 UTSW 16 59,375,556 (GRCm39) missense probably benign 0.08
R9464:Crybg3 UTSW 16 59,376,120 (GRCm39) unclassified probably benign
R9621:Crybg3 UTSW 16 59,326,613 (GRCm39) missense possibly damaging 0.73
R9703:Crybg3 UTSW 16 59,375,939 (GRCm39) missense probably damaging 0.96
R9751:Crybg3 UTSW 16 59,377,887 (GRCm39) missense possibly damaging 0.55
R9766:Crybg3 UTSW 16 59,376,207 (GRCm39) missense probably benign 0.03
RF007:Crybg3 UTSW 16 59,377,067 (GRCm39) missense possibly damaging 0.94
Z1177:Crybg3 UTSW 16 59,376,841 (GRCm39) missense probably benign 0.09
Z1177:Crybg3 UTSW 16 59,375,756 (GRCm39) nonsense probably null
Z1187:Crybg3 UTSW 16 59,326,608 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGAAGTCGTCTTTCTTGGG -3'
(R):5'- CTTGTGGAGAAATCCCATGGC -3'

Sequencing Primer
(F):5'- GAAGTCGTCTTTCTTGGGTACCC -3'
(R):5'- GAAATCATTGTAACCGTGTGTCCTG -3'
Posted On 2017-07-14