Incidental Mutation 'R4766:Crybg2'
ID 366132
Institutional Source Beutler Lab
Gene Symbol Crybg2
Ensembl Gene ENSMUSG00000012123
Gene Name crystallin beta-gamma domain containing 2
Synonyms Aim1l
MMRRC Submission 042407-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R4766 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 133788126-133819815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133816663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1676 (Y1676C)
Ref Sequence ENSEMBL: ENSMUSP00000154159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000696] [ENSMUST00000121391] [ENSMUST00000227683] [ENSMUST00000149956]
AlphaFold A0A2I3BQG2
Predicted Effect probably benign
Transcript: ENSMUST00000000696
SMART Domains Protein: ENSMUSP00000000696
Gene: ENSMUSG00000000682

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:CD52 23 74 1.4e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121391
AA Change: Y1367C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: Y1367C

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: ENSMUST00000137445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149080
Predicted Effect probably damaging
Transcript: ENSMUST00000227683
AA Change: Y1676C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Meta Mutation Damage Score 0.4219 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 97% (87/90)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C T 5: 113,245,502 (GRCm39) V1584I probably benign Het
Adamts12 A G 15: 11,285,987 (GRCm39) D732G probably benign Het
Agpat4 A G 17: 12,370,637 (GRCm39) probably benign Het
AI182371 T C 2: 34,985,829 (GRCm39) D140G possibly damaging Het
Apol11b T A 15: 77,519,133 (GRCm39) T316S probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bard1 T C 1: 71,114,333 (GRCm39) E216G probably benign Het
Bdp1 C A 13: 100,186,376 (GRCm39) R1692L probably damaging Het
Capn10 T C 1: 92,871,141 (GRCm39) I101T probably damaging Het
Ccdc175 C T 12: 72,158,979 (GRCm39) M653I probably benign Het
Ccdc9b C A 2: 118,590,058 (GRCm39) R262L probably damaging Het
Ccr8 G A 9: 119,923,530 (GRCm39) C215Y probably damaging Het
Cct3 T A 3: 88,219,092 (GRCm39) L241* probably null Het
Cd2ap A T 17: 43,163,350 (GRCm39) I25N probably damaging Het
Cdh19 T C 1: 110,820,990 (GRCm39) K583E probably benign Het
Cela3a A G 4: 137,129,986 (GRCm39) S212P unknown Het
Cfap44 T A 16: 44,236,246 (GRCm39) probably null Het
Clca3a1 A T 3: 144,455,473 (GRCm39) L440Q probably damaging Het
Dscam T C 16: 96,445,188 (GRCm39) D1501G probably benign Het
Eml6 C A 11: 29,755,757 (GRCm39) L832F probably benign Het
Enpp3 A G 10: 24,649,825 (GRCm39) L867P probably damaging Het
Erbb3 A G 10: 128,422,107 (GRCm39) Y46H possibly damaging Het
Fads3 T C 19: 10,033,384 (GRCm39) I342T possibly damaging Het
Flvcr1 A T 1: 190,753,303 (GRCm39) S290T probably benign Het
Fut9 A G 4: 25,799,191 (GRCm39) probably benign Het
Gad2 C T 2: 22,512,679 (GRCm39) A2V probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10715 T G 9: 3,038,073 (GRCm39) probably benign Het
Herc1 T G 9: 66,349,211 (GRCm39) D2023E probably benign Het
Hsd3b3 A G 3: 98,649,801 (GRCm39) L174P probably damaging Het
Impg2 TACCACCACCACCACCACCACCACCA TACCACCACCACCACCACCACCA 16: 56,078,302 (GRCm39) probably benign Het
Iqcf3 A G 9: 106,438,148 (GRCm39) probably null Het
Kcna4 G A 2: 107,126,888 (GRCm39) V541M probably damaging Het
Kcnj11 T C 7: 45,749,240 (GRCm39) T28A probably benign Het
Kcnmb2 T A 3: 32,236,016 (GRCm39) N88K probably damaging Het
Kdm2a TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTC 19: 4,374,535 (GRCm39) probably benign Het
Krt1c T C 15: 101,722,395 (GRCm39) E430G probably damaging Het
Lins1 C T 7: 66,360,389 (GRCm39) L384F possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mfge8 T C 7: 78,784,273 (GRCm39) N389D probably damaging Het
Mug1 C T 6: 121,861,213 (GRCm39) T1278I probably benign Het
Myh9 T C 15: 77,692,077 (GRCm39) M161V probably damaging Het
Myl7 T A 11: 5,848,171 (GRCm39) Y61F probably benign Het
Nlrp4d A T 7: 10,096,706 (GRCm39) unknown Het
Nol3 A G 8: 106,008,565 (GRCm39) probably null Het
Nup85 T A 11: 115,468,751 (GRCm39) probably null Het
Obscn T A 11: 58,903,568 (GRCm39) T7619S probably damaging Het
Or2t49 T A 11: 58,392,494 (GRCm39) N296I probably damaging Het
Or4k48 T C 2: 111,476,226 (GRCm39) M39V probably benign Het
Or52a24 C T 7: 103,381,457 (GRCm39) T108I possibly damaging Het
Or7g26 G A 9: 19,230,141 (GRCm39) V104I probably benign Het
Pax5 T A 4: 44,679,494 (GRCm39) I184F probably damaging Het
Pcdha7 T A 18: 37,107,560 (GRCm39) V195D probably damaging Het
Phf3 A T 1: 30,853,020 (GRCm39) probably benign Het
Pla2g15 G T 8: 106,889,703 (GRCm39) G325V probably damaging Het
Ppp1r21 T C 17: 88,880,043 (GRCm39) F487L probably benign Het
Ppp1r9a A G 6: 5,157,016 (GRCm39) I965V probably benign Het
Ptpru A G 4: 131,548,275 (GRCm39) V74A probably damaging Het
Rif1 T A 2: 51,988,946 (GRCm39) Y780N probably damaging Het
Rps25 T A 9: 44,320,046 (GRCm39) Y23N possibly damaging Het
Ryr1 T C 7: 28,785,258 (GRCm39) D1811G probably damaging Het
Scamp5 T G 9: 57,359,319 (GRCm39) probably null Het
Senp1 T C 15: 97,943,777 (GRCm39) D602G probably damaging Het
Sh2b2 T G 5: 136,260,811 (GRCm39) D135A probably damaging Het
Slc26a8 G A 17: 28,857,635 (GRCm39) T836M probably benign Het
Slfn4 T G 11: 83,077,647 (GRCm39) I145S possibly damaging Het
Spag6l G A 16: 16,595,254 (GRCm39) T377I probably benign Het
Spdye4b T C 5: 143,182,089 (GRCm39) F129S probably damaging Het
Sspo G A 6: 48,447,514 (GRCm39) G2360E probably benign Het
Taar2 A T 10: 23,816,669 (GRCm39) I70F probably damaging Het
Taar7e A G 10: 23,914,464 (GRCm39) N318S probably damaging Het
Tor1a C A 2: 30,857,742 (GRCm39) R42L probably benign Het
Trdn A T 10: 33,350,502 (GRCm39) Q690H probably benign Het
Trim56 C A 5: 137,141,579 (GRCm39) V646L probably benign Het
Tspan15 T A 10: 62,027,323 (GRCm39) K165I probably benign Het
Usp24 A G 4: 106,273,245 (GRCm39) Y2210C probably damaging Het
Usp45 A G 4: 21,797,307 (GRCm39) T76A probably damaging Het
Vps13c T A 9: 67,785,506 (GRCm39) probably null Het
Zfp512b T C 2: 181,226,888 (GRCm39) probably benign Het
Zyx C A 6: 42,333,093 (GRCm39) probably null 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
R4458:Crybg2 UTSW 4 133,802,205 (GRCm39) missense probably benign 0.32
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
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'- GGGCAGAGGTTGTTCTAACATG -3'
(R):5'- GGACAGGTAAAGCTGCTTTG -3'

Sequencing Primer
(F):5'- CAGAGGTTGTTCTAACATGTGTAC -3'
(R):5'- CAGGTAAAGCTGCTTTGTTTTCAAG -3'
Posted On 2015-12-21