Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Gtpbp2'

171132

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp2

Ensembl Gene

ENSMUSG00000023952

Gene Name

GTP binding protein 2

Synonyms

MMRRC Submission

039613-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

R1575 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46161032-46169370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46165943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 349 (V349D)

Ref Sequence

ENSEMBL: ENSMUSP00000128517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024748] [ENSMUST00000166563] [ENSMUST00000172170] [ENSMUST00000169383]

AlphaFold

Q3UJK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000024748
AA Change: V349D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952
AA Change: V349D

Domain	Start	End	E-Value	Type
low complexity region	26	57	N/A	INTRINSIC
Pfam:GTP_EFTU	172	412	4.2e-27	PFAM
low complexity region	418	429	N/A	INTRINSIC
Pfam:GTP_EFTU_D3	499	589	8.2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165686

Predicted Effect

probably benign
Transcript: ENSMUST00000166252

Predicted Effect

probably benign
Transcript: ENSMUST00000166563

SMART Domains

Protein: ENSMUSP00000127896
Gene: ENSMUSG00000023952

Domain	Start	End	E-Value	Type
low complexity region	26	57	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166663

Predicted Effect

probably benign
Transcript: ENSMUST00000166701

SMART Domains

Protein: ENSMUSP00000131772
Gene: ENSMUSG00000023952

Domain	Start	End	E-Value	Type
SCOP:d1f60a2	69	111	1e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167681

Predicted Effect

probably damaging
Transcript: ENSMUST00000172170
AA Change: V349D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128517
Gene: ENSMUSG00000023952
AA Change: V349D

Domain	Start	End	E-Value	Type
low complexity region	26	57	N/A	INTRINSIC
Pfam:GTP_EFTU	172	411	9.4e-27	PFAM
low complexity region	418	429	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169778

Predicted Effect

probably benign
Transcript: ENSMUST00000169383

SMART Domains

Protein: ENSMUSP00000133050
Gene: ENSMUSG00000023952

Domain	Start	End	E-Value	Type
low complexity region	26	51	N/A	INTRINSIC

Meta Mutation Damage Score

0.8800

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,852,762	T437S	probably benign	Het
Akna	A	G	4: 63,379,333	F828S	probably benign	Het
Alg9	G	T	9: 50,775,502	A40S	possibly damaging	Het
Alox8	T	A	11: 69,185,241	H628L	possibly damaging	Het
Aox3	T	C	1: 58,152,554	W422R	probably benign	Het
Atp13a4	T	C	16: 29,409,710	D984G	probably benign	Het
Bcam	T	C	7: 19,760,382	E363G	possibly damaging	Het
Cadps2	C	A	6: 23,429,218	V519F	probably damaging	Het
Calca	A	G	7: 114,635,161	Y18H	probably damaging	Het
Cd70	A	G	17: 57,146,364	I100T	probably damaging	Het
Cdk4	T	A	10: 127,064,651	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,703,342	N11K	probably damaging	Het
Cma2	T	A	14: 55,972,815	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,436,457	V500A	probably benign	Het
Dicer1	A	G	12: 104,721,969		probably null	Het
Dnajc13	A	G	9: 104,156,838	S2206P	probably benign	Het
Dtl	T	C	1: 191,561,546		probably null	Het
Fam186b	T	C	15: 99,286,971	T24A	probably benign	Het
Fbxw21	A	G	9: 109,161,916	V25A	probably benign	Het
Gins1	T	C	2: 150,912,838	S45P	probably benign	Het
Hyal5	G	T	6: 24,876,793	D222Y	probably damaging	Het
Itgal	A	G	7: 127,300,888		probably null	Het
Klk14	A	G	7: 43,693,953		probably null	Het
Lama1	T	A	17: 67,810,409	L2518Q	possibly damaging	Het
Lrrc2	G	A	9: 110,979,487	G264D	probably benign	Het
Ltbp4	A	G	7: 27,322,820	S893P	probably damaging	Het
Mast4	G	A	13: 102,739,263	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,275,419		probably null	Het
Naip2	A	T	13: 100,155,021	D1136E	probably benign	Het
Naip2	G	A	13: 100,155,029		probably benign	Het
Ncan	G	A	8: 70,110,198	T470I	probably benign	Het
Npy1r	A	T	8: 66,704,161	I78F	probably damaging	Het
Olfr1491	A	T	19: 13,705,525	M233L	probably benign	Het
Olfr917	G	A	9: 38,665,277	T189M	probably damaging	Het
Palb2	A	T	7: 122,110,838		probably null	Het
Pax3	T	C	1: 78,103,484	T422A	probably benign	Het
Pebp1	A	T	5: 117,286,164	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,740,469	T363S	probably benign	Het
Rbm44	G	A	1: 91,156,843		probably null	Het
Rbm47	T	A	5: 66,025,015	Y425F	probably benign	Het
Robo3	G	T	9: 37,429,661	A83E	probably damaging	Het
Rrm1	A	G	7: 102,456,514	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,108,057		probably benign	Het
Scara5	C	A	14: 65,730,865	Q196K	probably benign	Het
Setd1b	C	T	5: 123,163,147		probably benign	Het
Siah1a	A	G	8: 86,725,241	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Ssu72	A	G	4: 155,731,357	D86G	probably benign	Het
St7	G	T	6: 17,886,111	K357N	probably damaging	Het
Sv2b	G	A	7: 75,147,677	T323I	probably damaging	Het
Syt1	T	C	10: 108,504,500	N319S	probably benign	Het
Tanc1	T	A	2: 59,791,651	F371L	probably damaging	Het
Tcf20	C	A	15: 82,855,492	G586V	probably benign	Het
Tg	T	C	15: 66,729,685		probably null	Het
Tyk2	A	T	9: 21,115,462	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116	S130T	probably benign	Het
Ubr2	G	T	17: 46,932,492	P1696H	probably damaging	Het
Ubr5	A	T	15: 38,040,841	D266E	probably damaging	Het
Vipr2	A	G	12: 116,144,272	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,042,215	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,479,122	N401K	probably damaging	Het
Vwf	A	G	6: 125,655,251	E82G	unknown	Het
Vwf	T	A	6: 125,663,571	Y2323*	probably null	Het
Wdr76	T	G	2: 121,528,921	V329G	probably damaging	Het
Zan	A	G	5: 137,461,952	C1226R	unknown	Het
Zbtb16	G	T	9: 48,832,272	Q247K	probably damaging	Het
Zfp541	T	C	7: 16,078,715	V431A	possibly damaging	Het

Other mutations in Gtpbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Gtpbp2	APN	17	46168254	missense	probably damaging	1.00
IGL01534:Gtpbp2	APN	17	46163504	missense	probably damaging	1.00
IGL02272:Gtpbp2	APN	17	46164781	missense	probably benign	0.00
IGL02864:Gtpbp2	APN	17	46165594	missense	probably benign	0.00
R0894:Gtpbp2	UTSW	17	46165969	missense	possibly damaging	0.85
R1632:Gtpbp2	UTSW	17	46168592	missense	probably benign
R1639:Gtpbp2	UTSW	17	46165771	splice site	probably null
R1786:Gtpbp2	UTSW	17	46161202	missense	probably benign	0.01
R2132:Gtpbp2	UTSW	17	46161202	missense	probably benign	0.01
R2133:Gtpbp2	UTSW	17	46161202	missense	probably benign	0.01
R2223:Gtpbp2	UTSW	17	46167227	missense	probably benign
R3742:Gtpbp2	UTSW	17	46165882	missense	probably benign	0.03
R4060:Gtpbp2	UTSW	17	46167327	missense	probably damaging	1.00
R4061:Gtpbp2	UTSW	17	46167327	missense	probably damaging	1.00
R4064:Gtpbp2	UTSW	17	46167327	missense	probably damaging	1.00
R4387:Gtpbp2	UTSW	17	46166358	missense	probably benign	0.03
R4469:Gtpbp2	UTSW	17	46161313	missense	probably damaging	0.99
R4583:Gtpbp2	UTSW	17	46161145	missense	probably damaging	0.99
R4664:Gtpbp2	UTSW	17	46161154	missense	probably benign	0.33
R4724:Gtpbp2	UTSW	17	46167221	critical splice acceptor site	probably null
R5338:Gtpbp2	UTSW	17	46167834	missense	probably damaging	1.00
R5368:Gtpbp2	UTSW	17	46166304	splice site	probably benign
R5832:Gtpbp2	UTSW	17	46167862	missense	probably damaging	0.98
R6490:Gtpbp2	UTSW	17	46168221	missense	probably benign	0.01
R6526:Gtpbp2	UTSW	17	46164111	splice site	probably null
R6723:Gtpbp2	UTSW	17	46168276	missense	probably benign	0.05
R6860:Gtpbp2	UTSW	17	46167988	intron	probably benign
R7336:Gtpbp2	UTSW	17	46161313	missense	probably damaging	0.99
R7662:Gtpbp2	UTSW	17	46166435	missense	probably benign	0.00
R7710:Gtpbp2	UTSW	17	46167787	missense	possibly damaging	0.92
R8021:Gtpbp2	UTSW	17	46164269	missense	possibly damaging	0.91
R8334:Gtpbp2	UTSW	17	46166442	missense	possibly damaging	0.89
R9013:Gtpbp2	UTSW	17	46164814	missense	probably benign	0.05
R9445:Gtpbp2	UTSW	17	46167831	missense	probably damaging	0.99
R9715:Gtpbp2	UTSW	17	46167375	missense

Predicted Primers

PCR Primer
(F):5'- CAACACTGGAATCGGTAGGAGACAC -3'
(R):5'- CAATGAGCAGAGCCCCTTTCTGAC -3'

Sequencing Primer
(F):5'- AGGAGCTGACTCTCTCCTG -3'
(R):5'- GACAGCTAATGTCTCGAAGTTCC -3'

Posted On

2014-04-13