Mutagenetix > Incidental Mutations

Incidental Mutation 'R5905:Rapgef5'

456543

Institutional Source

Beutler Lab

Gene Symbol

Rapgef5

Ensembl Gene

ENSMUSG00000041992

Gene Name

Rap guanine nucleotide exchange factor (GEF) 5

Synonyms

D030051B22Rik, mr-gef

MMRRC Submission

044102-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117516479-117759737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117748426 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 547 (D547E)

Ref Sequence

ENSEMBL: ENSMUSP00000152875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109691] [ENSMUST00000222105] [ENSMUST00000222185]

Predicted Effect

probably damaging
Transcript: ENSMUST00000109691
AA Change: D749E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: D749E

Domain	Start	End	E-Value	Type
DEP	44	118	2.07e-12	SMART
RasGEFN	300	434	3.12e-34	SMART
Blast:RasGEF	441	502	7e-31	BLAST
RasGEF	574	814	1.52e-100	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000222105
AA Change: D547E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000222185
AA Change: D515E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,479,569		probably null	Het
Acat1	A	T	9: 53,592,066	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,342,324	A924E	probably damaging	Het
Alad	G	T	4: 62,510,122	T305K	probably benign	Het
Als2cl	G	T	9: 110,898,084	R906L	probably damaging	Het
Ap3d1	T	C	10: 80,722,927	N281S	possibly damaging	Het
Arf4	A	G	14: 26,653,924	T113A	probably benign	Het
Arhgap8	A	T	15: 84,741,977	K84N	possibly damaging	Het
Asah2	T	C	19: 32,016,514	D438G	probably damaging	Het
Cachd1	C	A	4: 100,983,556	N905K	probably damaging	Het
Catsperb	T	A	12: 101,602,700	M877K	possibly damaging	Het
Cc2d2a	A	T	5: 43,712,426	M890L	probably benign	Het
Cd180	A	T	13: 102,706,033	H529L	possibly damaging	Het
Cdh23	G	T	10: 60,534,535	D160E	probably damaging	Het
Chd7	C	A	4: 8,840,553	N1440K	possibly damaging	Het
Cntln	T	A	4: 84,971,173	S298T	probably benign	Het
Dmap1	G	T	4: 117,676,766	T132K	probably benign	Het
Dnah11	C	T	12: 117,954,924	G3424E	probably damaging	Het
Dnah5	T	A	15: 28,387,833	M3146K	probably damaging	Het
Egfr	A	T	11: 16,911,494	E1091V	probably damaging	Het
Eps8l2	T	C	7: 141,357,833	F422S	possibly damaging	Het
F2r	A	G	13: 95,604,613	V138A	possibly damaging	Het
Faf1	T	A	4: 109,890,929	M477K	probably benign	Het
Fam149b	C	T	14: 20,359,910	T235M	probably benign	Het
Fan1	C	A	7: 64,353,651	A808S	probably benign	Het
Fbxl20	A	G	11: 98,115,445	I38T	probably damaging	Het
Fnbp4	C	A	2: 90,751,134	T177K	probably benign	Het
Gm884	A	T	11: 103,614,255	S2296T	probably damaging	Het
Gm9747	T	C	1: 82,234,298		probably benign	Het
Grip1	A	G	10: 119,985,492	D354G	probably benign	Het
Grk4	A	C	5: 34,711,730	Y189S	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hgfac	A	G	5: 35,042,362	N63D	probably benign	Het
Hk1	C	A	10: 62,353,058	K25N	probably null	Het
Hrc	G	A	7: 45,336,234	G270S	probably damaging	Het
Inhba	T	A	13: 16,017,308	W5R	probably benign	Het
Lipm	T	C	19: 34,111,911	S90P	probably benign	Het
Lman1l	A	G	9: 57,608,263	I443T	probably damaging	Het
Lmod3	T	A	6: 97,247,614	E415D	probably damaging	Het
Lrrc63	A	G	14: 75,086,174	S537P	possibly damaging	Het
Map9	T	A	3: 82,380,248		probably null	Het
Marf1	T	A	16: 14,127,249	Q1252L	probably damaging	Het
Mc3r	A	T	2: 172,249,209	D117V	probably damaging	Het
Mepce	A	G	5: 137,784,720	V448A	possibly damaging	Het
Mical1	A	T	10: 41,486,877	M973L	probably benign	Het
Mmp21	T	C	7: 133,678,714	T176A	probably benign	Het
Nacc2	A	G	2: 26,061,578	V415A	probably damaging	Het
Neb	G	A	2: 52,193,231	T1639I	probably damaging	Het
Nfia	A	G	4: 98,111,251	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,558,337	T460I	probably benign	Het
Olfr1079	T	A	2: 86,538,769	I49F	possibly damaging	Het
Olfr12	T	A	1: 92,620,142	C79S	possibly damaging	Het
Olfr625-ps1	T	A	7: 103,683,574	N285K	probably damaging	Het
Olfr689	T	C	7: 105,314,951	Y316H	probably benign	Het
Olfr763	A	T	10: 129,011,287	M1L	probably benign	Het
Olfr938	T	A	9: 39,078,083	I221F	probably damaging	Het
Otoa	T	A	7: 121,094,601	L68Q	probably damaging	Het
Pclo	A	T	5: 14,680,385		probably benign	Het
Pcsk2	T	A	2: 143,749,140	Y186N	probably damaging	Het
Pigz	A	G	16: 31,945,428	T435A	probably benign	Het
Pja2	T	C	17: 64,309,090	D270G	probably benign	Het
Polb	G	T	8: 22,639,995	S187*	probably null	Het
Popdc3	A	G	10: 45,317,919	D272G	probably benign	Het
Prss36	T	C	7: 127,933,572	D716G	probably benign	Het
Slc4a11	T	A	2: 130,685,052	I719F	probably damaging	Het
Smpd2	A	G	10: 41,489,348	W51R	probably damaging	Het
Snrpb	T	A	2: 130,179,276		probably benign	Het
Sox9	A	G	11: 112,783,820	E148G	probably damaging	Het
Strbp	G	A	2: 37,625,255	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,559,826	M145K	probably damaging	Het
Syt17	T	C	7: 118,436,918	D74G	probably benign	Het
Taf5l	A	C	8: 124,002,975		probably null	Het
Tas2r131	T	G	6: 132,957,676	I57L	probably benign	Het
Tcf25	A	G	8: 123,381,437	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,017,811	T57A	possibly damaging	Het
Trrap	A	G	5: 144,849,920	K3170R	possibly damaging	Het
Tspan17	A	G	13: 54,793,298	N130S	probably damaging	Het
Vmn1r216	C	T	13: 23,099,197	L17F	probably damaging	Het
Vmn2r3	T	A	3: 64,275,277	T334S	probably benign	Het
Wnk2	G	T	13: 49,076,345	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,307,340	T947A	probably benign	Het
Zfhx3	C	T	8: 108,793,503	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549	S258P	probably damaging	Het
Zfp354c	T	C	11: 50,815,426	Y274C	probably damaging	Het
Zfp652	G	A	11: 95,749,863	A205T	probably benign	Het
Zfp964	A	G	8: 69,663,913	T388A	unknown	Het

Other mutations in Rapgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Rapgef5	APN	12	117714182	missense	probably damaging	0.99
IGL01405:Rapgef5	APN	12	117721380	missense	probably benign	0.16
IGL01611:Rapgef5	APN	12	117753419	splice site	probably benign
IGL01720:Rapgef5	APN	12	117613435	splice site	probably benign
IGL01958:Rapgef5	APN	12	117730651	missense	probably benign	0.24
IGL02093:Rapgef5	APN	12	117719132	missense	probably damaging	0.98
IGL03210:Rapgef5	APN	12	117742872	missense	probably damaging	1.00
IGL03370:Rapgef5	APN	12	117730559	missense	probably damaging	1.00
IGL03397:Rapgef5	APN	12	117748441	missense	probably damaging	1.00
R0026:Rapgef5	UTSW	12	117689161	missense	probably benign	0.11
R0026:Rapgef5	UTSW	12	117689161	missense	probably benign	0.11
R0100:Rapgef5	UTSW	12	117721299	missense	probably benign	0.05
R0173:Rapgef5	UTSW	12	117688676	missense	probably benign	0.00
R0834:Rapgef5	UTSW	12	117647121	splice site	probably benign
R1331:Rapgef5	UTSW	12	117721349	missense	probably benign	0.04
R1505:Rapgef5	UTSW	12	117688619	missense	possibly damaging	0.92
R1546:Rapgef5	UTSW	12	117647101	missense	probably benign	0.00
R1577:Rapgef5	UTSW	12	117595291	missense	probably benign	0.28
R1597:Rapgef5	UTSW	12	117658320	missense	probably damaging	1.00
R1824:Rapgef5	UTSW	12	117688684	critical splice donor site	probably null
R2065:Rapgef5	UTSW	12	117584119	nonsense	probably null
R2117:Rapgef5	UTSW	12	117714064	splice site	probably null
R2169:Rapgef5	UTSW	12	117715395	missense	probably benign	0.25
R2903:Rapgef5	UTSW	12	117714119	missense	probably damaging	1.00
R3983:Rapgef5	UTSW	12	117728670	missense	possibly damaging	0.49
R4004:Rapgef5	UTSW	12	117748397	missense	probably damaging	0.99
R4652:Rapgef5	UTSW	12	117714128	missense	probably damaging	0.99
R4830:Rapgef5	UTSW	12	117756074	missense	probably damaging	1.00
R5282:Rapgef5	UTSW	12	117739644	missense	probably damaging	1.00
R5348:Rapgef5	UTSW	12	117688611	missense	probably benign	0.24
R5456:Rapgef5	UTSW	12	117728646	splice site	probably null
R5502:Rapgef5	UTSW	12	117721329	missense	probably damaging	1.00
R5741:Rapgef5	UTSW	12	117756029	missense	probably damaging	0.99
R5771:Rapgef5	UTSW	12	117721326	missense	probably benign	0.45
R5941:Rapgef5	UTSW	12	117728738	missense	probably damaging	1.00
R6228:Rapgef5	UTSW	12	117721663	splice site	probably null
R6233:Rapgef5	UTSW	12	117739718	critical splice donor site	probably null
R6376:Rapgef5	UTSW	12	117721253	missense	probably damaging	1.00
R6475:Rapgef5	UTSW	12	117718207	missense	probably damaging	1.00
R7063:Rapgef5	UTSW	12	117689129	missense	possibly damaging	0.91
R7410:Rapgef5	UTSW	12	117721328	missense	probably damaging	1.00
R7445:Rapgef5	UTSW	12	117755969	missense	probably benign	0.00
R7690:Rapgef5	UTSW	12	117721370	missense	possibly damaging	0.72
R7707:Rapgef5	UTSW	12	117715344	missense	probably damaging	1.00
R7815:Rapgef5	UTSW	12	117755967	missense	probably benign	0.10
R8461:Rapgef5	UTSW	12	117714109	missense	probably benign	0.00
R8475:Rapgef5	UTSW	12	117718230	missense	probably damaging	0.99
X0018:Rapgef5	UTSW	12	117718215	missense	probably damaging	1.00
Z1176:Rapgef5	UTSW	12	117595288	missense	probably damaging	1.00
Z1177:Rapgef5	UTSW	12	117688997	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TAAGGAAGTCTATTCTGCCCAC -3'
(R):5'- CACTGTTCCATATGCCCAAAGAG -3'

Sequencing Primer
(F):5'- ACAGTTTTAGCTTCAAGTTGCC -3'
(R):5'- AGAGACCCTGGGAGTTACTCTG -3'

Posted On

2017-02-15