Incidental Mutation 'R2939:Crybg2'
ID 264558
Institutional Source Beutler Lab
Gene Symbol Crybg2
Ensembl Gene ENSMUSG00000012123
Gene Name crystallin beta-gamma domain containing 2
Synonyms Aim1l
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R2939 (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 133809745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1517 (H1517R)
Ref Sequence ENSEMBL: ENSMUSP00000154159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121391] [ENSMUST00000149956] [ENSMUST00000227683]
AlphaFold A0A2I3BQG2
Predicted Effect probably benign
Transcript: ENSMUST00000121391
AA Change: H1208R

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: H1208R

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: ENSMUST00000137529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149504
Predicted Effect probably benign
Transcript: ENSMUST00000149956
AA Change: H246R

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123
AA Change: H246R

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 noncoding transcript
Transcript: ENSMUST00000153392
Predicted Effect possibly damaging
Transcript: ENSMUST00000227683
AA Change: H1517R

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0819 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S possibly damaging 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
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
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'- CTGGCTGCTTAGTTAAGGCAG -3'
(R):5'- TGTGGTCGCCCAGAAAGTTG -3'

Sequencing Primer
(F):5'- AGGTCTTGGCCAGGAGG -3'
(R):5'- CCAGAAAGTTGGGGCCTG -3'
Posted On 2015-02-05