Incidental Mutation 'R7412:Crybg2'
ID 575138
Institutional Source Beutler Lab
Gene Symbol Crybg2
Ensembl Gene ENSMUSG00000012123
Gene Name crystallin beta-gamma domain containing 2
Synonyms Aim1l
MMRRC Submission 045493-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R7412 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 133788126-133819815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133801434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 865 (T865A)
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: T556A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: T556A

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: T865A

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (71/73)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,448,691 (GRCm39) Y335* probably null Het
Alpk1 A T 3: 127,466,143 (GRCm39) L1121Q probably damaging Het
Alpk1 A G 3: 127,489,382 (GRCm39) I99T probably damaging Het
Ap2a2 T A 7: 141,206,049 (GRCm39) F717I probably damaging Het
Arhgap33 C T 7: 30,222,477 (GRCm39) D1152N probably benign Het
Arvcf A G 16: 18,220,350 (GRCm39) D642G probably benign Het
Astn1 T G 1: 158,329,919 (GRCm39) M258R probably damaging Het
Brinp3 C G 1: 146,777,748 (GRCm39) L732V possibly damaging Het
Carmil1 T C 13: 24,282,793 (GRCm39) D547G possibly damaging Het
Ccdc177 A G 12: 80,805,792 (GRCm39) F161L possibly damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cnot10 A G 9: 114,454,971 (GRCm39) Y221H probably damaging Het
Col6a3 T A 1: 90,755,855 (GRCm39) I145F probably damaging Het
Cyp4f37 A G 17: 32,848,818 (GRCm39) S229G possibly damaging Het
Ddx56 G A 11: 6,211,720 (GRCm39) T462I probably damaging Het
Dhx30 T C 9: 109,921,966 (GRCm39) M239V probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Ephb6 A G 6: 41,597,173 (GRCm39) K994E probably damaging Het
Fam83a A C 15: 57,849,821 (GRCm39) T122P probably benign Het
Fbxo24 C A 5: 137,617,885 (GRCm39) C293F possibly damaging Het
Fech A T 18: 64,591,255 (GRCm39) S390T probably benign Het
Fras1 A G 5: 96,762,748 (GRCm39) H750R probably benign Het
Frmpd2 A G 14: 33,293,926 (GRCm39) D1364G probably benign Het
Ganab T C 19: 8,889,892 (GRCm39) I652T probably benign Het
Gm21103 T A 14: 17,482,943 (GRCm39) T153S probably benign Het
Gm21886 GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG 18: 80,132,967 (GRCm39) probably benign Het
Gm5799 A G 14: 43,781,995 (GRCm39) I56V possibly damaging Het
Gm7276 T C 18: 77,273,183 (GRCm39) R184G unknown Het
Gmip T G 8: 70,273,149 (GRCm39) D845E probably benign Het
Hspa9 T C 18: 35,082,082 (GRCm39) K175E probably damaging Het
Ipo13 A G 4: 117,752,068 (GRCm39) F890L probably benign Het
Irag1 A T 7: 110,522,963 (GRCm39) V160D probably benign Het
Klrb1f C T 6: 129,033,308 (GRCm39) R179* probably null Het
Nasp A G 4: 116,467,785 (GRCm39) V400A possibly damaging Het
Ncoa7 T A 10: 30,598,847 (GRCm39) K25N possibly damaging Het
Ndrg1 A C 15: 66,832,382 (GRCm39) M1R probably null Het
Nf1 G A 11: 79,364,240 (GRCm39) A1557T probably damaging Het
Nrde2 G A 12: 100,108,509 (GRCm39) Q361* probably null Het
Opn1sw A T 6: 29,379,856 (GRCm39) L126Q probably damaging Het
Or10ak16 A T 4: 118,750,327 (GRCm39) I16F possibly damaging Het
Or1af1 C T 2: 37,109,774 (GRCm39) T91I possibly damaging Het
Or1j4 T C 2: 36,740,478 (GRCm39) L140P probably benign Het
Or5au1 A T 14: 52,273,310 (GRCm39) L86* probably null Het
Or7g17 A T 9: 18,768,085 (GRCm39) I46F possibly damaging Het
Or8g50 T C 9: 39,648,422 (GRCm39) F104L probably benign Het
Osmr A G 15: 6,853,048 (GRCm39) Y616H probably damaging Het
Pagr1a T C 7: 126,615,736 (GRCm39) T120A probably benign Het
Patj A G 4: 98,299,376 (GRCm39) E166G probably damaging Het
Plk4 G A 3: 40,766,613 (GRCm39) V764I probably benign Het
Polr3h G A 15: 81,800,602 (GRCm39) probably null Het
Ptprb T A 10: 116,177,043 (GRCm39) D989E probably benign Het
Sdk2 A T 11: 113,758,909 (GRCm39) probably null Het
Setd1b C A 5: 123,290,639 (GRCm39) R869S unknown Het
Sgcz T C 8: 37,990,565 (GRCm39) I263V probably benign Het
Skint8 G A 4: 111,785,758 (GRCm39) G68D probably benign Het
Slc22a7 A T 17: 46,745,553 (GRCm39) V326E probably benign Het
Slc39a1 T G 3: 90,156,396 (GRCm39) L38R probably damaging Het
Slc4a4 A G 5: 89,362,506 (GRCm39) probably null Het
Sptlc3 A G 2: 139,431,537 (GRCm39) E353G possibly damaging Het
Ssh2 G T 11: 77,340,934 (GRCm39) L695F probably damaging Het
Tacr2 C A 10: 62,097,427 (GRCm39) Y302* probably null Het
Tas2r117 T C 6: 132,780,192 (GRCm39) L110P probably damaging Het
Tex9 A T 9: 72,394,060 (GRCm39) probably null Het
Tmem17 A T 11: 22,468,645 (GRCm39) T195S probably benign Het
Trcg1 T A 9: 57,148,766 (GRCm39) S113T probably benign Het
Trpa1 A T 1: 14,954,422 (GRCm39) F826I probably benign Het
Usp17lc A G 7: 103,067,575 (GRCm39) Y290C probably damaging Het
Vmn2r32 T A 7: 7,477,212 (GRCm39) D393V possibly damaging Het
Wdfy4 A G 14: 32,871,541 (GRCm39) L290P Het
Xpnpep1 G C 19: 52,994,722 (GRCm39) A302G probably benign Het
Xrn2 T C 2: 146,891,266 (GRCm39) L692P probably damaging Het
Zgrf1 A G 3: 127,356,720 (GRCm39) S649G probably benign Het
Zscan4b C T 7: 10,634,791 (GRCm39) C484Y probably damaging Het
Zscan4b T C 7: 10,635,820 (GRCm39) D169G 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
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
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
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'- CACGGTTGTTCAGAATGCAG -3'
(R):5'- ATCTCCAGGTCTGCAGTCAAG -3'

Sequencing Primer
(F):5'- TTGTTCAGAATGCAGAAGGAGGTC -3'
(R):5'- AGTCAAGGCTGCTTCGTC -3'
Posted On 2019-10-07