Incidental Mutation 'IGL02519:G3bp2'
ID 296880
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 # IGL02519
Quality Score
Status
Chromosome 5
Chromosomal Location 92200005-92231578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92214383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 137 (V137A)
Ref Sequence ENSEMBL: ENSMUSP00000144456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113127] [ENSMUST00000164378] [ENSMUST00000167918] [ENSMUST00000169094] [ENSMUST00000201820] [ENSMUST00000202258] [ENSMUST00000202123]
AlphaFold P97379
Predicted Effect possibly damaging
Transcript: ENSMUST00000113127
AA Change: V137A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: V137A

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: ENSMUST00000164378
AA Change: V137A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: V137A

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: V137A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: V137A

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: V137A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: V137A

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 probably benign
Transcript: ENSMUST00000201820
SMART Domains Protein: ENSMUSP00000144404
Gene: ENSMUSG00000029405

DomainStartEndE-ValueType
Pfam:NTF2 11 117 9.5e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201824
Predicted Effect possibly damaging
Transcript: ENSMUST00000202258
AA Change: V137A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: V137A

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: ENSMUST00000202125
Predicted Effect probably benign
Transcript: ENSMUST00000202123
SMART Domains Protein: ENSMUSP00000143804
Gene: ENSMUSG00000029405

DomainStartEndE-ValueType
Pfam:NTF2 11 133 5.2e-34 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 26,868,687 (GRCm39) I224F probably damaging Het
Adamts17 A G 7: 66,774,721 (GRCm39) T947A possibly damaging Het
Ankfn1 T C 11: 89,296,504 (GRCm39) E75G probably benign Het
Arfgef1 G T 1: 10,279,893 (GRCm39) H225N probably benign Het
Arsi A G 18: 61,050,139 (GRCm39) S341G probably damaging Het
Aspm T A 1: 139,389,665 (GRCm39) probably benign Het
Bltp1 A G 3: 36,949,464 (GRCm39) E370G probably damaging Het
Cacna1i C T 15: 80,246,075 (GRCm39) R490* probably null Het
Cd33 C T 7: 43,178,153 (GRCm39) probably benign Het
Clmn T C 12: 104,758,112 (GRCm39) I135V probably damaging Het
Crebbp A T 16: 3,919,457 (GRCm39) N795K possibly damaging Het
Dhps A G 8: 85,799,928 (GRCm39) D126G probably damaging Het
Dlg2 G T 7: 91,589,323 (GRCm39) V196L possibly damaging Het
Dsg1c T A 18: 20,416,790 (GRCm39) I897N probably damaging Het
Dzip3 A G 16: 48,748,759 (GRCm39) L1059S probably damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Fgf17 A G 14: 70,875,968 (GRCm39) I88T probably damaging Het
Gnal G A 18: 67,221,836 (GRCm39) E80K unknown Het
Hectd1 T G 12: 51,815,894 (GRCm39) S1393R probably damaging Het
Igsf6 T C 7: 120,667,496 (GRCm39) I173M possibly damaging Het
Il2ra A C 2: 11,687,901 (GRCm39) E227A possibly damaging Het
Iqcf6 C T 9: 106,504,479 (GRCm39) R48C probably damaging Het
Kdm3a G T 6: 71,588,570 (GRCm39) Q480K probably benign Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Magea6 T C X: 153,707,741 (GRCm39) D105G probably benign Het
Nop53 C A 7: 15,673,197 (GRCm39) probably benign Het
Or14a260 A T 7: 85,984,789 (GRCm39) F272I probably benign Het
Or1j10 T C 2: 36,267,325 (GRCm39) L179P possibly damaging Het
Pgghg A G 7: 140,524,894 (GRCm39) T352A possibly damaging Het
Setd2 T C 9: 110,382,184 (GRCm39) S1464P probably damaging Het
Sspo C A 6: 48,461,762 (GRCm39) T3609N probably damaging Het
Sulf1 T A 1: 12,908,587 (GRCm39) Y533* probably null Het
Thsd7b A G 1: 129,540,932 (GRCm39) S346G probably benign Het
Tmem161b T A 13: 84,442,863 (GRCm39) L261Q probably damaging Het
Tmem63b T A 17: 45,976,134 (GRCm39) T493S possibly damaging Het
Tmprss11d A T 5: 86,454,164 (GRCm39) C214S probably damaging Het
Trim16 A T 11: 62,724,905 (GRCm39) E144V possibly damaging Het
Unc13d T C 11: 115,961,359 (GRCm39) Y356C probably damaging Het
Urgcp A T 11: 5,667,745 (GRCm39) F198I probably benign Het
Vmn2r111 T C 17: 22,767,320 (GRCm39) I726V possibly damaging Het
Zzz3 A T 3: 152,133,027 (GRCm39) E28D 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
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
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 2015-04-16