Incidental Mutation 'R3698:G3bp2'
ID 269885
Institutional Source Beutler Lab
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 # R3698 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 92200005-92231578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92204139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 316 (E316G)
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: E316G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: E316G

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: E349G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: E349G

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: E316G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: E316G

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: E349G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: E349G

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 possibly damaging
Transcript: ENSMUST00000202258
AA Change: E349G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: E349G

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: ENSMUST00000201824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202352
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 C A 19: 56,904,955 (GRCm39) S549I possibly damaging Het
Aldh4a1 A G 4: 139,369,562 (GRCm39) H371R possibly damaging Het
Arpc1a G T 5: 145,033,001 (GRCm39) K103N probably damaging Het
Btg3 A G 16: 78,161,722 (GRCm39) S136P probably benign Het
Ckap5 C A 2: 91,450,511 (GRCm39) T2014K probably benign Het
Dennd10 A G 19: 60,821,054 (GRCm39) probably null Het
Emc1 T G 4: 139,092,697 (GRCm39) S546A possibly damaging Het
Il12a TCAC TC 3: 68,605,320 (GRCm39) probably null Het
Il6st T G 13: 112,640,916 (GRCm39) D897E probably benign Het
Ipo13 A G 4: 117,757,890 (GRCm39) L767P probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhl13 G A X: 23,114,422 (GRCm39) T94I probably benign Het
Morc2a A T 11: 3,629,672 (GRCm39) K364* probably null Het
Nat8f2 T A 6: 85,844,778 (GRCm39) T195S probably benign Het
Nckipsd G A 9: 108,688,320 (GRCm39) G83S probably damaging Het
Nfu1 A G 6: 86,992,634 (GRCm39) T83A probably damaging Het
Nid1 G A 13: 13,661,344 (GRCm39) C748Y probably damaging Het
Or1af1 C T 2: 37,110,188 (GRCm39) P229L probably damaging Het
Or5w15 T C 2: 87,568,360 (GRCm39) T103A probably benign Het
Rgs22 C T 15: 36,100,038 (GRCm39) V226I probably benign Het
Slc13a4 T A 6: 35,251,892 (GRCm39) I467F probably benign Het
Stat2 T A 10: 128,114,662 (GRCm39) L253Q probably benign Het
Tnxb G T 17: 34,909,407 (GRCm39) probably null Het
Ttn C T 2: 76,564,595 (GRCm39) R28514H probably damaging Het
Usp15 T C 10: 123,017,643 (GRCm39) D51G probably damaging Het
Uvrag T C 7: 98,589,150 (GRCm39) E417G probably damaging 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
IGL03183:G3bp2 APN 5 92,202,905 (GRCm39) missense possibly damaging 0.82
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
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
Predicted Primers PCR Primer
(F):5'- GAGTCCTGTTGTCCACTTGG -3'
(R):5'- TATGTACCACTCTGCCTGGCTG -3'

Sequencing Primer
(F):5'- TCCACTTGGACAGGACACC -3'
(R):5'- CCTGGCTGGCACTAATACTG -3'
Posted On 2015-03-18