Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Gtpbp2'

617400

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp2

Ensembl Gene

ENSMUSG00000023952

Gene Name

GTP binding protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46161032-46169370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46164269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 97 (R97C)

Ref Sequence

ENSEMBL: ENSMUSP00000024748 (fasta)

Gene Model

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

AlphaFold

Q3UJK4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024748
AA Change: R97C

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952
AA Change: R97C

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

probably benign
Transcript: ENSMUST00000166252

Predicted Effect

probably damaging
Transcript: ENSMUST00000166563
AA Change: R88C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127896
Gene: ENSMUSG00000023952
AA Change: R88C

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

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

probably benign
Transcript: ENSMUST00000169383

SMART Domains

Protein: ENSMUSP00000133050
Gene: ENSMUSG00000023952

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172170
AA Change: R97C

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128517
Gene: ENSMUSG00000023952
AA Change: R97C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741		probably null	Het
A630010A05Rik	C	T	16: 14,589,246	T13I		Het
Acsm5	A	G	7: 119,542,393	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902	M1K	probably null	Het
Frs3	T	A	17: 47,703,114	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222	V832I		Het
Gtf2ird2	T	A	5: 134,203,334	V242E	probably benign	Het
Habp2	T	A	19: 56,314,053	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353		probably benign	Het
Itih2	T	C	2: 10,105,652	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815		probably null	Het
Nek3	C	T	8: 22,157,190	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde12	A	T	14: 26,665,699	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675	P1760H		Het
Zbp1	T	C	2: 173,209,210	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947		probably benign	Het
Zzef1	A	T	11: 72,823,416	D244V	probably 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
R1575:Gtpbp2	UTSW	17	46165943	missense	probably damaging	1.00
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
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'- CGGGGTTTTAAGTGGACAGA -3'
(R):5'- CTCTTTGTCAAGGAATCAAGACAGA -3'

Sequencing Primer
(F):5'- GGTTTTAAGTGGACAGAGTTGC -3'
(R):5'- CGTCCCAAGTCCCTCTGG -3'

Posted On

2020-01-23