Mutagenetix > Incidental Mutation

Incidental Mutation 'R6376:Rapgef5'

514995

Institutional Source

Beutler Lab

Gene Symbol

Rapgef5

Ensembl Gene

ENSMUSG00000041992

Gene Name

Rap guanine nucleotide exchange factor (GEF) 5

Synonyms

mr-gef, D030051B22Rik

MMRRC Submission

044526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6376 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117480146-117723472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117684988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 246 (V246M)

Ref Sequence

ENSEMBL: ENSMUSP00000152339 (fasta)

Gene Model

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

AlphaFold

Q8C0Q9

Predicted Effect

probably damaging
Transcript: ENSMUST00000109691
AA Change: V480M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: V480M

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: V278M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222185
AA Change: V246M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223173

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,339,456 (GRCm39)	E106D	probably damaging	Het
A830018L16Rik	A	T	1: 11,868,718 (GRCm39)	N333Y	probably damaging	Het
Abca4	T	A	3: 121,917,309 (GRCm39)	M1007K	possibly damaging	Het
Accsl	T	A	2: 93,687,343 (GRCm39)	I495F	probably damaging	Het
Acsl3	T	C	1: 78,674,182 (GRCm39)	S373P	possibly damaging	Het
Adam7	A	G	14: 68,742,546 (GRCm39)	I689T	possibly damaging	Het
Akap11	G	A	14: 78,752,336 (GRCm39)	T179I	probably damaging	Het
Ankmy1	T	C	1: 92,816,187 (GRCm39)	K309R	possibly damaging	Het
Apaf1	A	T	10: 90,859,673 (GRCm39)	I824N	probably damaging	Het
Apc2	T	A	10: 80,148,488 (GRCm39)	C1152S	probably damaging	Het
Arhgap17	C	A	7: 122,899,727 (GRCm39)	W409L	probably damaging	Het
Arhgef15	T	C	11: 68,845,796 (GRCm39)	I19V	unknown	Het
Arnt	C	A	3: 95,397,936 (GRCm39)	P573H	probably damaging	Het
Arvcf	G	A	16: 18,223,882 (GRCm39)	G932R	probably damaging	Het
Atg4a-ps	C	T	3: 103,553,044 (GRCm39)	W99*	probably null	Het
Atp13a5	T	A	16: 29,056,004 (GRCm39)	D1052V	probably benign	Het
Atp2b4	T	C	1: 133,642,797 (GRCm39)	T1103A	probably damaging	Het
B4galnt4	C	A	7: 140,647,335 (GRCm39)	Q362K	possibly damaging	Het
Cd320	T	A	17: 34,066,491 (GRCm39)	N90K	probably benign	Het
Cep170b	A	T	12: 112,698,502 (GRCm39)	I87F	probably damaging	Het
Coq3	T	G	4: 21,900,486 (GRCm39)	C238G	probably benign	Het
Cpa5	A	T	6: 30,614,044 (GRCm39)	Q62L	probably benign	Het
Ctsg	A	T	14: 56,339,110 (GRCm39)	C49*	probably null	Het
Cul9	T	C	17: 46,819,489 (GRCm39)	T2000A	probably damaging	Het
Dedd	C	T	1: 171,167,790 (GRCm39)	P155S	probably benign	Het
Dnah1	A	G	14: 30,997,565 (GRCm39)	S2598P	probably damaging	Het
Dnah14	C	T	1: 181,433,459 (GRCm39)	P379S	possibly damaging	Het
Dync2h1	A	T	9: 7,165,703 (GRCm39)	S519R	probably benign	Het
Eea1	A	G	10: 95,874,660 (GRCm39)	S1192G	probably benign	Het
Eif5b	T	C	1: 38,084,760 (GRCm39)	I869T	probably damaging	Het
Elavl4	C	A	4: 110,112,651 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ets2	G	A	16: 95,520,037 (GRCm39)	R421H	probably damaging	Het
Exoc3l2	G	A	7: 19,203,635 (GRCm39)	A76T	possibly damaging	Het
Fam89b	T	C	19: 5,778,757 (GRCm39)	Y144C	probably damaging	Het
Greb1	T	C	12: 16,749,580 (GRCm39)	E1082G	probably damaging	Het
Gtf3a	A	T	5: 146,890,798 (GRCm39)		probably null	Het
Hoxc12	C	A	15: 102,845,524 (GRCm39)	F79L	possibly damaging	Het
Hspb8	G	T	5: 116,547,491 (GRCm39)	L164I	probably damaging	Het
Ina	C	T	19: 47,003,564 (GRCm39)	A124V	probably benign	Het
Inhbb	T	A	1: 119,345,411 (GRCm39)	I293F	probably damaging	Het
Itpr3	A	G	17: 27,314,449 (GRCm39)	Y633C	possibly damaging	Het
Jag2	C	T	12: 112,872,949 (GRCm39)	V1102I	probably benign	Het
Kalrn	A	T	16: 33,796,361 (GRCm39)	F1138Y	probably benign	Het
Large2	T	A	2: 92,200,853 (GRCm39)		probably benign	Het
Lats2	A	G	14: 57,959,966 (GRCm39)	S177P	probably benign	Het
Lims2	G	A	18: 32,087,515 (GRCm39)	R124H	possibly damaging	Het
Lrp2	T	A	2: 69,313,787 (GRCm39)	T2315S	probably benign	Het
Lrrc4c	A	C	2: 97,459,391 (GRCm39)	T6P	probably benign	Het
Lrrk2	T	C	15: 91,626,469 (GRCm39)	L1171S	possibly damaging	Het
Man2b2	A	T	5: 36,978,378 (GRCm39)	M302K	probably damaging	Het
Mocos	G	A	18: 24,834,542 (GRCm39)	G860R	possibly damaging	Het
Mylk3	T	A	8: 86,085,571 (GRCm39)	D258V	possibly damaging	Het
Nkx1-2	C	T	7: 132,201,240 (GRCm39)	D6N	probably damaging	Het
Nrp2	A	G	1: 62,758,176 (GRCm39)	N54S	possibly damaging	Het
Nt5el	T	C	13: 105,256,473 (GRCm39)	I514T	possibly damaging	Het
Or2d2	A	G	7: 106,727,848 (GRCm39)	F251L	probably benign	Het
Pacsin1	A	T	17: 27,926,879 (GRCm39)	T195S	probably benign	Het
Pank4	T	C	4: 155,056,693 (GRCm39)		probably null	Het
Pdgfra	A	T	5: 75,327,180 (GRCm39)	M126L	probably benign	Het
Podxl	T	A	6: 31,505,432 (GRCm39)	T204S	probably benign	Het
Pole	G	A	5: 110,484,240 (GRCm39)	D2175N	probably damaging	Het
Pramel16	C	T	4: 143,677,267 (GRCm39)	G104E	probably benign	Het
Prkdc	A	G	16: 15,587,749 (GRCm39)	K2545E	probably benign	Het
Prodh	T	C	16: 17,897,849 (GRCm39)	I183V	probably benign	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rubcnl	A	G	14: 75,269,834 (GRCm39)	N164S	probably benign	Het
Samd4	A	T	14: 47,290,419 (GRCm39)	L175F	probably damaging	Het
Scart1	G	A	7: 139,808,642 (GRCm39)	G851D	probably damaging	Het
Scimp	C	A	11: 70,688,893 (GRCm39)	W41L	possibly damaging	Het
Scn3a	T	A	2: 65,291,843 (GRCm39)	K1634N	possibly damaging	Het
Spta1	A	G	1: 174,030,888 (GRCm39)	R957G	probably benign	Het
Sptlc3	T	A	2: 139,478,692 (GRCm39)	N550K	probably benign	Het
Srebf1	T	C	11: 60,094,361 (GRCm39)	N609D	probably null	Het
Styxl1	A	T	5: 135,776,664 (GRCm39)	L164H	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Tnfsf15	T	C	4: 63,663,267 (GRCm39)	M19V	probably damaging	Het
Trappc8	G	C	18: 20,970,132 (GRCm39)	R953G	probably benign	Het
Trav13-1	A	G	14: 53,782,800 (GRCm39)	N50S	probably benign	Het
Trim12a	T	C	7: 103,955,241 (GRCm39)	K161E	probably benign	Het
Vipr1	C	A	9: 121,493,640 (GRCm39)	N230K	probably damaging	Het
Xirp1	A	T	9: 119,847,557 (GRCm39)	V3E	probably damaging	Het
Zfp768	A	G	7: 126,943,892 (GRCm39)	F82L	probably benign	Het

Other mutations in Rapgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Rapgef5	APN	12	117,677,917 (GRCm39)	missense	probably damaging	0.99
IGL01405:Rapgef5	APN	12	117,685,115 (GRCm39)	missense	probably benign	0.16
IGL01611:Rapgef5	APN	12	117,717,154 (GRCm39)	splice site	probably benign
IGL01720:Rapgef5	APN	12	117,577,055 (GRCm39)	splice site	probably benign
IGL01958:Rapgef5	APN	12	117,694,386 (GRCm39)	missense	probably benign	0.24
IGL02093:Rapgef5	APN	12	117,682,867 (GRCm39)	missense	probably damaging	0.98
IGL03210:Rapgef5	APN	12	117,706,607 (GRCm39)	missense	probably damaging	1.00
IGL03370:Rapgef5	APN	12	117,694,294 (GRCm39)	missense	probably damaging	1.00
IGL03397:Rapgef5	APN	12	117,712,176 (GRCm39)	missense	probably damaging	1.00
R0026:Rapgef5	UTSW	12	117,652,896 (GRCm39)	missense	probably benign	0.11
R0026:Rapgef5	UTSW	12	117,652,896 (GRCm39)	missense	probably benign	0.11
R0100:Rapgef5	UTSW	12	117,685,034 (GRCm39)	missense	probably benign	0.05
R0173:Rapgef5	UTSW	12	117,652,411 (GRCm39)	missense	probably benign	0.00
R0834:Rapgef5	UTSW	12	117,610,741 (GRCm39)	splice site	probably benign
R1331:Rapgef5	UTSW	12	117,685,084 (GRCm39)	missense	probably benign	0.04
R1505:Rapgef5	UTSW	12	117,652,354 (GRCm39)	missense	possibly damaging	0.92
R1546:Rapgef5	UTSW	12	117,610,721 (GRCm39)	missense	probably benign	0.00
R1577:Rapgef5	UTSW	12	117,558,911 (GRCm39)	missense	probably benign	0.28
R1597:Rapgef5	UTSW	12	117,621,940 (GRCm39)	missense	probably damaging	1.00
R1824:Rapgef5	UTSW	12	117,652,419 (GRCm39)	critical splice donor site	probably null
R2065:Rapgef5	UTSW	12	117,547,739 (GRCm39)	nonsense	probably null
R2117:Rapgef5	UTSW	12	117,677,799 (GRCm39)	splice site	probably null
R2169:Rapgef5	UTSW	12	117,679,130 (GRCm39)	missense	probably benign	0.25
R2903:Rapgef5	UTSW	12	117,677,854 (GRCm39)	missense	probably damaging	1.00
R3983:Rapgef5	UTSW	12	117,692,405 (GRCm39)	missense	possibly damaging	0.49
R4004:Rapgef5	UTSW	12	117,712,132 (GRCm39)	missense	probably damaging	0.99
R4652:Rapgef5	UTSW	12	117,677,863 (GRCm39)	missense	probably damaging	0.99
R4830:Rapgef5	UTSW	12	117,719,809 (GRCm39)	missense	probably damaging	1.00
R5282:Rapgef5	UTSW	12	117,703,379 (GRCm39)	missense	probably damaging	1.00
R5348:Rapgef5	UTSW	12	117,652,346 (GRCm39)	missense	probably benign	0.24
R5456:Rapgef5	UTSW	12	117,692,381 (GRCm39)	splice site	probably null
R5502:Rapgef5	UTSW	12	117,685,064 (GRCm39)	missense	probably damaging	1.00
R5741:Rapgef5	UTSW	12	117,719,764 (GRCm39)	missense	probably damaging	0.99
R5771:Rapgef5	UTSW	12	117,685,061 (GRCm39)	missense	probably benign	0.45
R5905:Rapgef5	UTSW	12	117,712,161 (GRCm39)	missense	probably damaging	1.00
R5941:Rapgef5	UTSW	12	117,692,473 (GRCm39)	missense	probably damaging	1.00
R6228:Rapgef5	UTSW	12	117,685,398 (GRCm39)	splice site	probably null
R6233:Rapgef5	UTSW	12	117,703,453 (GRCm39)	critical splice donor site	probably null
R6475:Rapgef5	UTSW	12	117,681,942 (GRCm39)	missense	probably damaging	1.00
R7063:Rapgef5	UTSW	12	117,652,864 (GRCm39)	missense	possibly damaging	0.91
R7410:Rapgef5	UTSW	12	117,685,063 (GRCm39)	missense	probably damaging	1.00
R7445:Rapgef5	UTSW	12	117,719,704 (GRCm39)	missense	probably benign	0.00
R7690:Rapgef5	UTSW	12	117,685,105 (GRCm39)	missense	possibly damaging	0.72
R7707:Rapgef5	UTSW	12	117,679,079 (GRCm39)	missense	probably damaging	1.00
R7815:Rapgef5	UTSW	12	117,719,702 (GRCm39)	missense	probably benign	0.10
R8461:Rapgef5	UTSW	12	117,677,844 (GRCm39)	missense	probably benign	0.00
R8475:Rapgef5	UTSW	12	117,681,965 (GRCm39)	missense	probably damaging	0.99
R8675:Rapgef5	UTSW	12	117,547,782 (GRCm39)	missense	probably damaging	1.00
R8682:Rapgef5	UTSW	12	117,545,432 (GRCm39)	missense	probably benign	0.06
R9018:Rapgef5	UTSW	12	117,712,132 (GRCm39)	missense	probably damaging	0.99
R9617:Rapgef5	UTSW	12	117,621,930 (GRCm39)	missense	probably benign	0.00
X0018:Rapgef5	UTSW	12	117,681,950 (GRCm39)	missense	probably damaging	1.00
Z1176:Rapgef5	UTSW	12	117,558,908 (GRCm39)	missense	probably damaging	1.00
Z1177:Rapgef5	UTSW	12	117,652,732 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CAGTATGGGAAGCCAGTCAG -3'
(R):5'- CAAGATGTCAGCTTCCTTCCCG -3'

Sequencing Primer
(F):5'- AAGCCAGTCAGCTGCTCCTG -3'
(R):5'- AGCTTCCTTCCCGTGGAG -3'

Posted On

2018-05-04