Incidental Mutation 'R1982:Crybg3'
ID 220023
Institutional Source Beutler Lab
Gene Symbol Crybg3
Ensembl Gene ENSMUSG00000022723
Gene Name beta-gamma crystallin domain containing 3
Synonyms Gm9581
MMRRC Submission 039994-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R1982 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 59312451-59421410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59364488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2378 (D2378G)
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: D664G

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: D664G

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 possibly damaging
Transcript: ENSMUST00000172910
AA Change: D2378G

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000179383
AA Change: D664G

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137452
Gene: ENSMUSG00000022723
AA Change: D664G

DomainStartEndE-ValueType
low complexity region 390 405 N/A INTRINSIC
low complexity region 414 422 N/A INTRINSIC
XTALbg 562 648 2.78e-4 SMART
Pfam:Crystall 668 731 1e-6 PFAM
XTALbg 746 831 1.2e-21 SMART
XTALbg 839 922 5.73e-19 SMART
XTALbg 935 1013 6.87e-5 SMART
XTALbg 1021 1101 1.28e-7 SMART
RICIN 1104 1236 8.16e-14 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G T 11: 119,904,340 (GRCm39) P252Q probably damaging Het
Adamts4 T C 1: 171,086,503 (GRCm39) V765A probably benign Het
Agfg2 A T 5: 137,662,515 (GRCm39) V184E possibly damaging Het
Alas1 A T 9: 106,115,384 (GRCm39) I48N probably damaging Het
Anks1 T C 17: 28,204,095 (GRCm39) V181A probably damaging Het
Anxa8 A T 14: 33,818,527 (GRCm39) R261S probably damaging Het
Aqp4 T C 18: 15,526,608 (GRCm39) D291G probably damaging Het
Atrn A G 2: 130,812,142 (GRCm39) R696G probably benign Het
Barx2 A C 9: 31,824,308 (GRCm39) I27S probably damaging Het
Btnl1 A T 17: 34,598,725 (GRCm39) I114L possibly damaging Het
Casq1 C T 1: 172,043,097 (GRCm39) A200T probably damaging Het
Ccdc33 T A 9: 58,024,451 (GRCm39) E225D probably benign Het
Cd84 C A 1: 171,712,152 (GRCm39) probably null Het
Ceacam9 T G 7: 16,459,232 (GRCm39) L177R probably benign Het
Cenpi T A X: 133,218,782 (GRCm39) F161L possibly damaging Het
Cep63 T C 9: 102,480,079 (GRCm39) K251E probably damaging Het
Cetn3 A G 13: 81,932,816 (GRCm39) E25G probably damaging Het
Ddx19b T C 8: 111,735,975 (GRCm39) T357A possibly damaging Het
Dpep2 A C 8: 106,716,087 (GRCm39) Y266* probably null Het
Dqx1 G A 6: 83,035,558 (GRCm39) D24N probably damaging Het
Dsg4 A T 18: 20,604,269 (GRCm39) Y912F probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Fmo1 T C 1: 162,667,325 (GRCm39) I163M possibly damaging Het
Garin1a A G 6: 29,285,921 (GRCm39) T69A probably benign Het
Gatad2a G A 8: 70,365,782 (GRCm39) R428* probably null Het
Gfpt1 T A 6: 87,031,612 (GRCm39) F85I possibly damaging Het
Gimap7 A T 6: 48,701,175 (GRCm39) I254F possibly damaging Het
Glcci1 T C 6: 8,592,980 (GRCm39) S261P probably damaging Het
Glis3 A T 19: 28,508,674 (GRCm39) F437I probably damaging Het
Glp1r C A 17: 31,144,601 (GRCm39) S258* probably null Het
Gpt2 C T 8: 86,242,832 (GRCm39) A288V possibly damaging Het
Grin2c G T 11: 115,151,731 (GRCm39) S76R possibly damaging Het
Guf1 T A 5: 69,724,569 (GRCm39) Y447* probably null Het
H2-T9 T A 17: 36,439,614 (GRCm39) D122V probably damaging Het
Hectd1 A C 12: 51,832,624 (GRCm39) L916V probably damaging Het
Hnf4g A G 3: 3,703,268 (GRCm39) K96E probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifi207 T G 1: 173,562,805 (GRCm39) M114L probably benign Het
Ifi35 A T 11: 101,349,112 (GRCm39) E252V probably damaging Het
Igsf9b G A 9: 27,233,535 (GRCm39) R345H possibly damaging Het
Itih3 T C 14: 30,645,540 (GRCm39) probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kidins220 A T 12: 25,101,193 (GRCm39) M1252L probably benign Het
Kifap3 T A 1: 163,689,591 (GRCm39) L525* probably null Het
Limk2 A T 11: 3,305,461 (GRCm39) D35E probably benign Het
Lrrc37a G A 11: 103,389,792 (GRCm39) P1878S probably benign Het
Mansc4 T A 6: 146,977,173 (GRCm39) I148F probably benign Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Mib1 A G 18: 10,812,064 (GRCm39) D987G probably damaging Het
Mroh8 A G 2: 157,113,895 (GRCm39) V132A possibly damaging Het
Npnt T C 3: 132,653,893 (GRCm39) I29M probably benign Het
Nrap T C 19: 56,372,537 (GRCm39) D138G probably damaging Het
Or10a3m A G 7: 108,312,902 (GRCm39) Y102C probably damaging Het
Or1e16 A T 11: 73,285,918 (GRCm39) I310N probably benign Het
Or2h1 T A 17: 37,404,700 (GRCm39) E22V probably damaging Het
Or6z7 T C 7: 6,483,931 (GRCm39) M75V probably benign Het
Osbpl5 A C 7: 143,295,408 (GRCm39) probably null Het
Pcna-ps2 T C 19: 9,261,047 (GRCm39) V102A possibly damaging Het
Pik3c2g T C 6: 139,599,546 (GRCm39) S221P probably damaging Het
Plppr3 A G 10: 79,702,259 (GRCm39) I271T probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Pramel25 C A 4: 143,521,720 (GRCm39) H445Q probably benign Het
Prkar1b C T 5: 139,113,398 (GRCm39) A41T probably benign Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr14 G T 7: 127,074,662 (GRCm39) R398L possibly damaging Het
Ptafr A G 4: 132,307,296 (GRCm39) R229G probably damaging Het
Rbp3 T C 14: 33,676,502 (GRCm39) F150S probably damaging Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rlf T C 4: 121,007,309 (GRCm39) Y557C probably damaging Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Selenop A T 15: 3,305,176 (GRCm39) I111F probably damaging Het
Slc2a2 G A 3: 28,771,590 (GRCm39) M173I probably benign Het
Slc43a1 G T 2: 84,687,233 (GRCm39) G361V possibly damaging Het
Slit2 G A 5: 48,407,178 (GRCm39) V870M probably damaging Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Stk32b T A 5: 37,806,458 (GRCm39) I29F probably damaging Het
Stra6l T A 4: 45,867,237 (GRCm39) C161* probably null Het
Tecpr2 T A 12: 110,921,219 (GRCm39) M1264K probably benign Het
Tfap2c A T 2: 172,399,156 (GRCm39) I468F probably damaging Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tlr4 T A 4: 66,759,272 (GRCm39) N688K probably benign Het
Tmem35b A T 4: 127,019,846 (GRCm39) probably benign Het
Ugt2b34 T C 5: 87,054,172 (GRCm39) E203G probably damaging Het
Vegfa A C 17: 46,329,786 (GRCm39) *393G probably null Het
Vmn2r16 T C 5: 109,511,890 (GRCm39) V699A probably benign Het
Zfp324 T C 7: 12,705,145 (GRCm39) S445P probably damaging Het
Zfp982 T A 4: 147,597,049 (GRCm39) C135* probably null Het
Zfp990 A C 4: 145,263,439 (GRCm39) N146H probably damaging Het
Zfyve26 A G 12: 79,302,017 (GRCm39) Y431H possibly damaging 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
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
R6049:Crybg3 UTSW 16 59,364,417 (GRCm39) missense probably benign 0.00
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'- AAGCCAGGAAGTCGTCTTTC -3'
(R):5'- CAACCGGCGTTGTTCTTGTG -3'

Sequencing Primer
(F):5'- GAAGTCGTCTTTCTTGGGTACCC -3'
(R):5'- CTTGTGGAGAAATCCCATGGCAC -3'
Posted On 2014-08-25