Incidental Mutation 'R0335:Crybg3'
ID 26227
Institutional Source Beutler Lab
Gene Symbol Crybg3
Ensembl Gene ENSMUSG00000022723
Gene Name beta-gamma crystallin domain containing 3
Synonyms Gm9581
MMRRC Submission 038544-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R0335 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 59312451-59421410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59364503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 2373 (L2373Q)
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 damaging
Transcript: ENSMUST00000044604
AA Change: L659Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: L659Q

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 damaging
Transcript: ENSMUST00000172910
AA Change: L2373Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000179383
AA Change: L659Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137452
Gene: ENSMUSG00000022723
AA Change: L659Q

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.6%
  • 20x: 87.5%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 G T 15: 11,311,144 (GRCm39) D1134Y possibly damaging Het
Add3 A G 19: 53,225,259 (GRCm39) T460A probably benign Het
Amer3 A C 1: 34,618,381 (GRCm39) probably benign Het
Arhgap22 C T 14: 33,081,065 (GRCm39) probably benign Het
Arhgap32 T G 9: 32,171,056 (GRCm39) S1279A probably benign Het
Bcas1 G A 2: 170,260,601 (GRCm39) T26M probably damaging Het
Begain A T 12: 109,004,860 (GRCm39) F256I probably damaging Het
Bltp1 T C 3: 37,023,301 (GRCm39) V2210A probably damaging Het
Cabin1 A T 10: 75,492,883 (GRCm39) I1804N probably damaging Het
Cad G A 5: 31,231,329 (GRCm39) probably benign Het
Carmil1 G A 13: 24,257,966 (GRCm39) S762L probably damaging Het
Ccdc93 T A 1: 121,420,706 (GRCm39) L529Q probably damaging Het
Cdh12 T A 15: 21,578,635 (GRCm39) probably null Het
Cep15 A G 14: 12,301,266 (GRCm38) E124G possibly damaging Het
Clip2 T A 5: 134,564,069 (GRCm39) probably benign Het
Cmip T C 8: 118,172,105 (GRCm39) I480T probably damaging Het
Cnot1 A T 8: 96,498,628 (GRCm39) I203K probably benign Het
Col18a1 G A 10: 76,895,197 (GRCm39) P1155S probably damaging Het
Col1a2 T A 6: 4,531,956 (GRCm39) probably benign Het
D130043K22Rik A T 13: 25,071,860 (GRCm39) I935F probably damaging Het
Dapl1 T A 2: 59,326,938 (GRCm39) D61E possibly damaging Het
Def6 A G 17: 28,447,043 (GRCm39) D558G possibly damaging Het
Dnah6 T C 6: 73,046,382 (GRCm39) probably benign Het
Dvl2 G A 11: 69,891,861 (GRCm39) probably benign Het
Ecd A C 14: 20,370,802 (GRCm39) V639G probably benign Het
Epg5 C T 18: 78,029,687 (GRCm39) T1350M probably benign Het
Erbb4 C A 1: 68,298,418 (GRCm39) M657I probably benign Het
Evi5 T C 5: 107,960,277 (GRCm39) R431G probably benign Het
Fbxo11 G A 17: 88,323,041 (GRCm39) A115V possibly damaging Het
Fgfr2 T C 7: 129,797,979 (GRCm39) T192A probably benign Het
Gas7 C T 11: 67,552,878 (GRCm39) A146V possibly damaging Het
Gatad2b T A 3: 90,263,489 (GRCm39) S529T probably benign Het
Gm10722 G T 9: 3,001,048 (GRCm39) Q41H probably null Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm7535 A G 17: 18,131,374 (GRCm39) probably benign Het
Gstm1 T A 3: 107,920,012 (GRCm39) N193I possibly damaging Het
Heatr5b G A 17: 79,135,375 (GRCm39) P252L probably benign Het
Hmgb1 A G 5: 148,987,441 (GRCm39) V36A probably benign Het
Hrh1 G T 6: 114,457,193 (GRCm39) W158L probably damaging Het
Ighv6-4 T C 12: 114,370,294 (GRCm39) M53V probably benign Het
Iqgap2 T A 13: 95,772,141 (GRCm39) D1346V probably damaging Het
Kcng3 A T 17: 83,895,166 (GRCm39) N433K possibly damaging Het
Kif1a T A 1: 92,980,288 (GRCm39) probably benign Het
Lctl C A 9: 64,026,169 (GRCm39) Q75K probably benign Het
Ldb3 T A 14: 34,300,608 (GRCm39) I89F possibly damaging Het
Lrrc49 A T 9: 60,584,378 (GRCm39) L156Q probably damaging Het
Mark2 G T 19: 7,259,193 (GRCm39) T83K probably benign Het
Ms4a15 A T 19: 10,957,574 (GRCm39) D170E probably damaging Het
Msantd2 A G 9: 37,434,056 (GRCm39) S99G possibly damaging Het
Nemf G T 12: 69,400,577 (GRCm39) T124N probably benign Het
Nlrp9c A T 7: 26,093,561 (GRCm39) F35I possibly damaging Het
Nwd2 A G 5: 63,962,116 (GRCm39) I567V probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or11l3 T C 11: 58,516,566 (GRCm39) Y102C probably damaging Het
Or13p8 A G 4: 118,584,367 (GRCm39) I308V probably null Het
Or5v1b A C 17: 37,841,533 (GRCm39) I222L probably benign Het
Or7g16 T A 9: 18,727,290 (GRCm39) Q100L probably damaging Het
Pdk4 T C 6: 5,491,138 (GRCm39) E209G probably benign Het
Plch1 T C 3: 63,618,399 (GRCm39) Q712R probably damaging Het
Pnpla1 T A 17: 29,105,852 (GRCm39) V569E possibly damaging Het
Prkar2a A T 9: 108,596,457 (GRCm39) D134V probably damaging Het
Ptov1 T A 7: 44,514,046 (GRCm39) Q40L possibly damaging Het
Ptprq T C 10: 107,544,589 (GRCm39) I314V probably benign Het
Rabl2 T C 15: 89,468,169 (GRCm39) K66E probably damaging Het
Rnf38 A G 4: 44,152,507 (GRCm39) V19A possibly damaging Het
Scn2a T A 2: 65,512,435 (GRCm39) W191R probably damaging Het
Sec22b T A 3: 97,828,572 (GRCm39) F212I possibly damaging Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Septin2 T C 1: 93,423,321 (GRCm39) S51P probably damaging Het
Serpinb1a T C 13: 33,032,639 (GRCm39) N90S probably damaging Het
Slc1a2 C T 2: 102,574,208 (GRCm39) T206I probably benign Het
Slc25a19 C A 11: 115,515,032 (GRCm39) R42L probably damaging Het
St14 G A 9: 31,002,620 (GRCm39) probably benign Het
Stxbp1 C T 2: 32,692,917 (GRCm39) probably benign Het
Tas2r131 C T 6: 132,934,792 (GRCm39) V6I probably benign Het
Tdo2 T A 3: 81,871,307 (GRCm39) M235L probably benign Het
Tenm3 T G 8: 48,685,140 (GRCm39) H2432P probably damaging Het
Tmprss15 C T 16: 78,821,630 (GRCm39) probably benign Het
Tmx1 A G 12: 70,500,030 (GRCm39) N30D probably benign Het
Tom1 A G 8: 75,791,020 (GRCm39) probably null Het
Top2a T C 11: 98,913,781 (GRCm39) N20S probably benign Het
Ttc23l T A 15: 10,540,049 (GRCm39) T145S probably benign Het
Unc13b T A 4: 43,236,983 (GRCm39) M3351K possibly damaging Het
Vmn1r47 T C 6: 89,999,641 (GRCm39) S258P probably damaging Het
Vmn2r8 T G 5: 108,945,317 (GRCm39) probably null Het
Vps11 T C 9: 44,265,135 (GRCm39) Q641R probably null Het
Wapl T A 14: 34,414,281 (GRCm39) I381N probably damaging Het
Zmym6 G A 4: 127,016,601 (GRCm39) G794E probably 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
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
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'- GCCTGCTCCTGGAAGTCATACATC -3'
(R):5'- GGCGTTGTTCTTGTGGAGAAATCCC -3'

Sequencing Primer
(F):5'- GGAATCTGTTTTAAGCCAGGAAGTC -3'
(R):5'- TTTACAACACCAGCCCTGTG -3'
Posted On 2013-04-16