Incidental Mutation 'IGL03183:G3bp2'
ID 412334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G3bp2
Ensembl Gene ENSMUSG00000029405
Gene Name G3BP stress granule assembly factor 2
Synonyms G3BP, E430034L04Rik, G3BP2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03183
Quality Score
Status
Chromosome 5
Chromosomal Location 92200005-92231578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 92202905 bp (GRCm39)
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: 84,483,214 (GRCm39) probably null Het
Ano2 A T 6: 125,687,592 (GRCm39) K32N probably benign Het
Asic1 A G 15: 99,569,898 (GRCm39) H73R probably benign Het
B3glct A G 5: 149,677,607 (GRCm39) D412G probably damaging Het
Baz2b T C 2: 59,733,640 (GRCm39) I1891V probably benign Het
Cc2d2a A G 5: 43,889,721 (GRCm39) E1278G probably damaging Het
Ccdc116 T C 16: 16,960,718 (GRCm39) E33G probably benign Het
Celf4 T A 18: 25,670,796 (GRCm39) Q129L probably benign Het
Celf4 G T 18: 25,670,797 (GRCm39) Q129K probably benign Het
Cfap251 A G 5: 123,392,682 (GRCm39) probably benign Het
Col18a1 A G 10: 76,909,588 (GRCm39) S817P probably damaging Het
Corin A G 5: 72,458,929 (GRCm39) V940A probably damaging Het
Dlgap2 A T 8: 14,777,525 (GRCm39) N257Y possibly damaging Het
Dnah2 C A 11: 69,349,314 (GRCm39) V2441L possibly damaging Het
Evpl C T 11: 116,112,438 (GRCm39) E1751K probably damaging Het
Fat1 G A 8: 45,403,623 (GRCm39) E125K probably damaging Het
Fras1 A T 5: 96,881,640 (GRCm39) probably benign Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Grk5 T C 19: 61,057,774 (GRCm39) F158S probably damaging Het
Hmbox1 G T 14: 65,125,048 (GRCm39) Q188K probably damaging Het
Ift172 A T 5: 31,429,348 (GRCm39) D604E probably benign Het
Igkv6-32 T A 6: 70,051,556 (GRCm39) T5S probably benign Het
Impa1 A G 3: 10,388,054 (GRCm39) Y123H probably damaging Het
Itgb4 C T 11: 115,879,550 (GRCm39) T612M probably damaging Het
Med12l T A 3: 58,944,976 (GRCm39) probably null Het
Meis2 A G 2: 115,890,002 (GRCm39) L160S probably damaging Het
Micu1 C T 10: 59,563,870 (GRCm39) R31* probably null Het
Nlrp9a G T 7: 26,256,882 (GRCm39) A167S probably damaging Het
Or10j27 A G 1: 172,958,425 (GRCm39) Y120H probably damaging Het
Or4d10 A T 19: 12,051,392 (GRCm39) N201K probably damaging Het
Plpp6 A G 19: 28,942,071 (GRCm39) N224S possibly damaging Het
Sdk2 T A 11: 113,741,810 (GRCm39) H803L probably benign Het
Shld2 T C 14: 33,967,143 (GRCm39) T690A probably benign Het
Slc36a1 T A 11: 55,119,017 (GRCm39) Y331N probably damaging Het
Spata31d1c A T 13: 65,183,009 (GRCm39) I184F possibly damaging Het
Stat3 T C 11: 100,793,582 (GRCm39) I338V possibly damaging Het
Stk10 T A 11: 32,554,143 (GRCm39) V610E possibly damaging Het
Syna A G 5: 134,587,144 (GRCm39) S602P probably benign Het
Tap2 T A 17: 34,424,399 (GRCm39) probably benign Het
Tln1 T C 4: 43,539,084 (GRCm39) probably benign Het
Tra2b C A 16: 22,073,303 (GRCm39) probably benign Het
Ttc7b T C 12: 100,339,968 (GRCm39) probably null Het
Vmn2r121 G A X: 123,042,023 (GRCm39) T378I probably benign Het
Wdr1 A T 5: 38,690,825 (GRCm39) probably null Het
Other mutations in G3bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:G3bp2 APN 5 92,213,707 (GRCm39) missense probably damaging 0.98
IGL02124:G3bp2 APN 5 92,221,106 (GRCm39) missense possibly damaging 0.92
IGL02519:G3bp2 APN 5 92,214,383 (GRCm39) missense possibly damaging 0.90
IGL03146:G3bp2 APN 5 92,214,399 (GRCm39) missense probably damaging 1.00
IGL03195:G3bp2 APN 5 92,216,367 (GRCm39) splice site probably benign
IGL03385:G3bp2 APN 5 92,216,254 (GRCm39) missense probably damaging 1.00
R0558:G3bp2 UTSW 5 92,221,056 (GRCm39) missense probably damaging 1.00
R1067:G3bp2 UTSW 5 92,211,187 (GRCm39) splice site probably benign
R1621:G3bp2 UTSW 5 92,204,137 (GRCm39) missense probably damaging 1.00
R2294:G3bp2 UTSW 5 92,205,887 (GRCm39) missense probably damaging 1.00
R3698:G3bp2 UTSW 5 92,204,139 (GRCm39) missense possibly damaging 0.91
R4159:G3bp2 UTSW 5 92,212,260 (GRCm39) missense probably benign 0.00
R4195:G3bp2 UTSW 5 92,203,275 (GRCm39) missense probably damaging 0.99
R4754:G3bp2 UTSW 5 92,202,768 (GRCm39) missense possibly damaging 0.85
R5518:G3bp2 UTSW 5 92,216,347 (GRCm39) missense probably benign 0.00
R5680:G3bp2 UTSW 5 92,216,219 (GRCm39) missense probably damaging 1.00
R5937:G3bp2 UTSW 5 92,203,256 (GRCm39) missense probably damaging 1.00
R8769:G3bp2 UTSW 5 92,231,356 (GRCm39) intron probably benign
R8945:G3bp2 UTSW 5 92,216,281 (GRCm39) missense probably damaging 1.00
R9723:G3bp2 UTSW 5 92,214,388 (GRCm39) missense possibly damaging 0.68
Posted On 2016-08-02