Mutagenetix > Incidental Mutations

Incidental Mutation 'R8769:G3bp2'

664283

Institutional Source

Beutler Lab

Gene Symbol

G3bp2

Ensembl Gene

ENSMUSG00000029405

Gene Name

GTPase activating protein (SH3 domain) binding protein 2

Synonyms

G3BP, E430034L04Rik, G3BP2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92052146-92083719 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 92083497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113127] [ENSMUST00000164378] [ENSMUST00000167918] [ENSMUST00000169094] [ENSMUST00000201820] [ENSMUST00000202258]

AlphaFold

P97379

Predicted Effect

probably benign
Transcript: ENSMUST00000113127

SMART Domains

Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000164378

SMART Domains

Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000167918

SMART Domains

Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000169094

SMART Domains

Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	117	9.5e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202258

SMART Domains

Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	T	A	2: 68,616,245	N289K	unknown	Het
Adgrl2	T	C	3: 148,817,281	I436V		Het
Agbl3	C	T	6: 34,857,614	S911L	probably damaging	Het
Ampd2	C	T	3: 108,075,297	M714I	probably damaging	Het
Asb6	T	C	2: 30,828,131	D19G	possibly damaging	Het
Bbx	T	C	16: 50,240,864	Q298R	probably damaging	Het
Bcl9l	T	A	9: 44,508,966	M1223K	probably benign	Het
Ccr3	T	A	9: 124,029,059	F144I	possibly damaging	Het
Cfap74	T	A	4: 155,418,648	F32L		Het
Clhc1	G	A	11: 29,561,401	E293K	probably damaging	Het
Col22a1	A	T	15: 72,006,722	D195E	probably benign	Het
Cttnbp2	T	A	6: 18,376,004	D1512V	probably damaging	Het
Cul9	T	C	17: 46,521,902	T1372A	possibly damaging	Het
Dyrk4	G	T	6: 126,880,245	D490E	possibly damaging	Het
E4f1	C	T	17: 24,444,600	V626M	probably damaging	Het
Edc3	C	T	9: 57,727,395	R232C	probably damaging	Het
Eppk1	A	G	15: 76,110,695	I662T	probably benign	Het
Fam214a	C	A	9: 75,025,825	L1025I	probably damaging	Het
Grik3	T	C	4: 125,656,373	L397P	probably damaging	Het
Hectd4	A	G	5: 121,281,873	N627S	possibly damaging	Het
Hecw2	C	T	1: 53,913,348	V909I	probably benign	Het
Hsd17b12	A	T	2: 94,115,052	M75K	probably damaging	Het
Htt	C	T	5: 34,820,289	T809I	probably benign	Het
Itih1	A	G	14: 30,933,424	S609P	probably damaging	Het
Klk1b9	T	A	7: 43,980,242	C234S	probably damaging	Het
Lrrc37a	A	G	11: 103,498,710	L1963P	probably benign	Het
Lypd3	C	A	7: 24,638,507	H99Q	probably damaging	Het
Mdn1	C	A	4: 32,751,390	H4593Q	probably damaging	Het
Mroh1	A	G	15: 76,412,926	S325G	probably benign	Het
Muc5ac	G	A	7: 141,818,872	G3452R	probably damaging	Het
Myrfl	A	T	10: 116,776,791	D884E	probably damaging	Het
Nbeal1	T	A	1: 60,235,211	H260Q	probably damaging	Het
Ngef	A	G	1: 87,481,161	L519P	probably damaging	Het
Olfr1133	A	T	2: 87,645,616	F169Y	probably damaging	Het
Olfr1454	T	A	19: 13,063,943	C177*	probably null	Het
Olfr202	A	G	16: 59,283,831	L222P	probably damaging	Het
Pcca	A	G	14: 122,616,848	K184R	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Ppp6r1	A	T	7: 4,641,290	V379E	probably benign	Het
Prkca	A	T	11: 107,951,460		probably benign	Het
Prune2	A	G	19: 17,123,078	E1982G	probably damaging	Het
Rad21l	T	C	2: 151,667,918	T88A	probably benign	Het
Rpgrip1l	T	C	8: 91,252,584		probably benign	Het
Sec62	T	C	3: 30,810,028		probably null	Het
Slc22a19	C	T	19: 7,692,721	R256Q	possibly damaging	Het
Slc43a2	G	T	11: 75,543,366		probably null	Het
Smarcd3	T	C	5: 24,598,794	M30V	probably benign	Het
Tes3-ps	T	A	13: 49,493,880	D77E	probably benign	Het
Thbs3	G	A	3: 89,224,630		probably benign	Het
Trpm2	A	T	10: 77,932,294	N790K	probably benign	Het
Ttc13	A	T	8: 124,679,077	N492K	possibly damaging	Het
Ttc39c	T	C	18: 12,695,488	L235P	probably damaging	Het
Tyms	T	C	5: 30,073,362		probably benign	Het
Whamm	A	T	7: 81,585,185	K333*	probably null	Het
Ydjc	A	G	16: 17,150,868	I224V	probably benign	Het
Zc3hav1	C	T	6: 38,336,481	D210N	possibly damaging	Het
Zfp735	G	A	11: 73,690,301	E55K	possibly damaging	Het

Other mutations in G3bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03183:G3bp2	APN	5	92055046	missense	possibly damaging	0.82
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
R8945:G3bp2	UTSW	5	92068422	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTCATCCTAGCAATCCCCAG -3'
(R):5'- TCCAAACTGATGCCTGATTGG -3'

Sequencing Primer
(F):5'- GCGCAGGTCATCCTCCTC -3'
(R):5'- AGCTCGTTGCAGCTCTAGG -3'

Posted On

2021-03-08