Incidental Mutation 'R1621:G3bp2'
ID 174656
Institutional Source Beutler Lab
Gene Symbol G3bp2
Ensembl Gene ENSMUSG00000029405
Gene Name G3BP stress granule assembly factor 2
Synonyms G3BP, E430034L04Rik, G3BP2
MMRRC Submission 039658-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1621 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 92200005-92231578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92204137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 350 (F350I)
Ref Sequence ENSEMBL: ENSMUSP00000144456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113127] [ENSMUST00000164378] [ENSMUST00000167918] [ENSMUST00000169094] [ENSMUST00000202258]
AlphaFold P97379
Predicted Effect probably damaging
Transcript: ENSMUST00000113127
AA Change: F317I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: F317I

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 probably damaging
Transcript: ENSMUST00000164378
AA Change: F350I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: F350I

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 probably damaging
Transcript: ENSMUST00000167918
AA Change: F317I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: F317I

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 probably damaging
Transcript: ENSMUST00000169094
AA Change: F350I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: F350I

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 probably damaging
Transcript: ENSMUST00000202258
AA Change: F350I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: F350I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201824
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.0%
  • 20x: 84.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,564,041 (GRCm39) N253S probably benign Het
Adamts3 G A 5: 89,869,560 (GRCm39) H272Y probably damaging Het
Arpc5l T C 2: 38,903,913 (GRCm39) probably null Het
Birc6 G A 17: 74,977,245 (GRCm39) V4333I probably benign Het
Cd38 A G 5: 44,058,866 (GRCm39) D160G probably benign Het
Cdc7 A G 5: 107,112,920 (GRCm39) S13G probably benign Het
Chrm5 G T 2: 112,310,182 (GRCm39) D311E probably benign Het
Ctns A G 11: 73,079,298 (GRCm39) V140A possibly damaging Het
Ets2 A G 16: 95,510,913 (GRCm39) D57G probably damaging Het
Fbxo36 T A 1: 84,817,595 (GRCm39) M1K probably null Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Hs3st3a1 G T 11: 64,327,049 (GRCm39) V53F probably benign Het
Ippk T C 13: 49,615,044 (GRCm39) S427P probably benign Het
Irgm2 T C 11: 58,111,364 (GRCm39) F364L probably benign Het
Lipn A G 19: 34,046,113 (GRCm39) K29E probably benign Het
Map3k11 A G 19: 5,740,834 (GRCm39) E187G probably damaging Het
Nrxn3 A G 12: 88,762,480 (GRCm39) M176V probably benign Het
Or2z9 A G 8: 72,853,973 (GRCm39) Y123C probably damaging Het
Palm3 G A 8: 84,756,651 (GRCm39) S721N possibly damaging Het
Plxnb1 A G 9: 108,935,873 (GRCm39) I1088V probably benign Het
Pmfbp1 A G 8: 110,226,170 (GRCm39) H69R probably benign Het
Pou2af1 C T 9: 51,144,160 (GRCm39) H54Y probably damaging Het
Prl6a1 C T 13: 27,501,993 (GRCm39) T120I probably benign Het
Psen2 A T 1: 180,057,030 (GRCm39) F331L probably benign Het
Pygl T C 12: 70,237,866 (GRCm39) D724G probably damaging Het
Slc25a48 T A 13: 56,618,283 (GRCm39) *307R probably null Het
Slc39a6 T C 18: 24,733,946 (GRCm39) K248E probably benign Het
Slco4a1 A T 2: 180,112,925 (GRCm39) T386S probably benign Het
Snx7 T C 3: 117,630,805 (GRCm39) I185V possibly damaging Het
Tmem94 A G 11: 115,676,671 (GRCm39) S59G probably benign Het
Top3a A T 11: 60,641,433 (GRCm39) I392N probably damaging Het
Utp20 A G 10: 88,598,733 (GRCm39) I81T probably benign Het
Utrn A G 10: 12,589,027 (GRCm39) L893S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGGGAAGCCTTCATGTTGTCAGATG -3'
(R):5'- TACCACTCTGCCTGGCACTGATAC -3'

Sequencing Primer
(F):5'- TTGTACTGAAAACCGTGGAGTCC -3'
(R):5'- ACTCTGCCTGGCAGTAATAC -3'
Posted On 2014-04-24