Incidental Mutation 'IGL03183:G3bp2'
ID 412334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G3bp2
Ensembl Gene ENSMUSG00000029405
Gene Name GTPase activating protein (SH3 domain) binding protein 2
Synonyms G3BP, E430034L04Rik, G3BP2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03183
Quality Score
Status
Chromosome 5
Chromosomal Location 92052146-92083719 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 92055046 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 362 (M362R)
Ref Sequence ENSEMBL: ENSMUSP00000132469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113127] [ENSMUST00000164378] [ENSMUST00000167918] [ENSMUST00000169094] [ENSMUST00000202258]
AlphaFold P97379
Predicted Effect possibly damaging
Transcript: ENSMUST00000113127
AA Change: M362R

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: M362R

DomainStartEndE-ValueType
Pfam:NTF2 11 133 8.4e-34 PFAM
low complexity region 140 159 N/A INTRINSIC
low complexity region 186 211 N/A INTRINSIC
low complexity region 214 224 N/A INTRINSIC
low complexity region 254 279 N/A INTRINSIC
RRM 299 372 6.07e-14 SMART
low complexity region 376 427 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158087
Predicted Effect possibly damaging
Transcript: ENSMUST00000164378
AA Change: M395R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: M395R

DomainStartEndE-ValueType
Pfam:NTF2 11 133 5.5e-36 PFAM
low complexity region 140 159 N/A INTRINSIC
low complexity region 186 211 N/A INTRINSIC
low complexity region 214 224 N/A INTRINSIC
low complexity region 287 312 N/A INTRINSIC
RRM 332 405 6.07e-14 SMART
low complexity region 409 460 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167918
AA Change: M362R

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: M362R

DomainStartEndE-ValueType
Pfam:NTF2 11 133 8.4e-34 PFAM
low complexity region 140 159 N/A INTRINSIC
low complexity region 186 211 N/A INTRINSIC
low complexity region 214 224 N/A INTRINSIC
low complexity region 254 279 N/A INTRINSIC
RRM 299 372 6.07e-14 SMART
low complexity region 376 427 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169094
AA Change: M395R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: M395R

DomainStartEndE-ValueType
Pfam:NTF2 11 133 1.1e-34 PFAM
low complexity region 140 159 N/A INTRINSIC
low complexity region 186 211 N/A INTRINSIC
low complexity region 214 224 N/A INTRINSIC
low complexity region 287 312 N/A INTRINSIC
RRM 332 405 6.07e-14 SMART
low complexity region 409 460 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201824
Predicted Effect possibly damaging
Transcript: ENSMUST00000202258
AA Change: M395R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: M395R

DomainStartEndE-ValueType
Pfam:NTF2 11 133 5.5e-36 PFAM
low complexity region 140 159 N/A INTRINSIC
low complexity region 186 211 N/A INTRINSIC
low complexity region 214 224 N/A INTRINSIC
low complexity region 287 312 N/A INTRINSIC
RRM 332 405 6.07e-14 SMART
low complexity region 409 460 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202352
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh6a1 A G 12: 84,436,440 probably null Het
Ano2 A T 6: 125,710,629 K32N probably benign Het
Asic1 A G 15: 99,672,017 H73R probably benign Het
B3glct A G 5: 149,754,142 D412G probably damaging Het
Baz2b T C 2: 59,903,296 I1891V probably benign Het
Cc2d2a A G 5: 43,732,379 E1278G probably damaging Het
Ccdc116 T C 16: 17,142,854 E33G probably benign Het
Celf4 T A 18: 25,537,739 Q129L probably benign Het
Celf4 G T 18: 25,537,740 Q129K probably benign Het
Col18a1 A G 10: 77,073,754 S817P probably damaging Het
Corin A G 5: 72,301,586 V940A probably damaging Het
Dlgap2 A T 8: 14,727,525 N257Y possibly damaging Het
Dnah2 C A 11: 69,458,488 V2441L possibly damaging Het
Evpl C T 11: 116,221,612 E1751K probably damaging Het
Fam35a T C 14: 34,245,186 T690A probably benign Het
Fat1 G A 8: 44,950,586 E125K probably damaging Het
Fras1 A T 5: 96,733,781 probably benign Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Grk5 T C 19: 61,069,336 F158S probably damaging Het
Hmbox1 G T 14: 64,887,599 Q188K probably damaging Het
Ift172 A T 5: 31,272,004 D604E probably benign Het
Igkv6-32 T A 6: 70,074,572 T5S probably benign Het
Impa1 A G 3: 10,322,994 Y123H probably damaging Het
Itgb4 C T 11: 115,988,724 T612M probably damaging Het
Med12l T A 3: 59,037,555 probably null Het
Meis2 A G 2: 116,059,521 L160S probably damaging Het
Micu1 C T 10: 59,728,048 R31* probably null Het
Nlrp9a G T 7: 26,557,457 A167S probably damaging Het
Olfr1408 A G 1: 173,130,858 Y120H probably damaging Het
Olfr1425 A T 19: 12,074,028 N201K probably damaging Het
Plpp6 A G 19: 28,964,671 N224S possibly damaging Het
Sdk2 T A 11: 113,850,984 H803L probably benign Het
Slc36a1 T A 11: 55,228,191 Y331N probably damaging Het
Spata31d1c A T 13: 65,035,195 I184F possibly damaging Het
Stat3 T C 11: 100,902,756 I338V possibly damaging Het
Stk10 T A 11: 32,604,143 V610E possibly damaging Het
Syna A G 5: 134,558,290 S602P probably benign Het
Tap2 T A 17: 34,205,425 probably benign Het
Tln1 T C 4: 43,539,084 probably benign Het
Tra2b C A 16: 22,254,553 probably benign Het
Ttc7b T C 12: 100,373,709 probably null Het
Vmn2r121 G A X: 124,132,326 T378I probably benign Het
Wdr1 A T 5: 38,533,482 probably null Het
Wdr66 A G 5: 123,254,619 probably benign Het
Other mutations in G3bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:G3bp2 APN 5 92065848 missense probably damaging 0.98
IGL02124:G3bp2 APN 5 92073247 missense possibly damaging 0.92
IGL02519:G3bp2 APN 5 92066524 missense possibly damaging 0.90
IGL03146:G3bp2 APN 5 92066540 missense probably damaging 1.00
IGL03195:G3bp2 APN 5 92068508 splice site probably benign
IGL03385:G3bp2 APN 5 92068395 missense probably damaging 1.00
R0558:G3bp2 UTSW 5 92073197 missense probably damaging 1.00
R1067:G3bp2 UTSW 5 92063328 splice site probably benign
R1621:G3bp2 UTSW 5 92056278 missense probably damaging 1.00
R2294:G3bp2 UTSW 5 92058028 missense probably damaging 1.00
R3698:G3bp2 UTSW 5 92056280 missense possibly damaging 0.91
R4159:G3bp2 UTSW 5 92064401 missense probably benign 0.00
R4195:G3bp2 UTSW 5 92055416 missense probably damaging 0.99
R4754:G3bp2 UTSW 5 92054909 missense possibly damaging 0.85
R5518:G3bp2 UTSW 5 92068488 missense probably benign 0.00
R5680:G3bp2 UTSW 5 92068360 missense probably damaging 1.00
R5937:G3bp2 UTSW 5 92055397 missense probably damaging 1.00
R8769:G3bp2 UTSW 5 92083497 intron probably benign
R8945:G3bp2 UTSW 5 92068422 missense probably damaging 1.00
Posted On 2016-08-02