Mutagenetix > Incidental Mutation

Incidental Mutation 'R5771:Rapgef5'

445390

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

043371-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117480146-117723472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117685061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 270 (V270D)

Ref Sequence

ENSEMBL: ENSMUSP00000152339 (fasta)

Gene Model

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

AlphaFold

Q8C0Q9

Predicted Effect

probably benign
Transcript: ENSMUST00000109691
AA Change: V504D

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: V504D

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 benign
Transcript: ENSMUST00000222105
AA Change: V302D

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000222185
AA Change: V270D

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223173

Meta Mutation Damage Score

0.1049

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

95% (87/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,411 (GRCm39)	N1091K	probably damaging	Het
Adam3	C	T	8: 25,197,427 (GRCm39)	V335I	probably benign	Het
AI504432	G	A	3: 106,956,299 (GRCm39)		noncoding transcript	Het
Apcdd1	A	G	18: 63,070,027 (GRCm39)	Y98C	probably damaging	Het
Aqp9	C	T	9: 71,030,146 (GRCm39)	A214T	probably damaging	Het
Atp8b4	T	C	2: 126,220,664 (GRCm39)	D578G	probably benign	Het
Bcdin3d	T	C	15: 99,368,717 (GRCm39)	M161V	probably benign	Het
Bicral	C	T	17: 47,136,284 (GRCm39)	V309I	possibly damaging	Het
Ccdc88b	C	T	19: 6,831,203 (GRCm39)	A580T	probably benign	Het
Cdhr2	T	A	13: 54,874,508 (GRCm39)	V860E	probably damaging	Het
Clhc1	A	T	11: 29,513,854 (GRCm39)	N302Y	possibly damaging	Het
Cnnm2	T	A	19: 46,845,434 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,937,636 (GRCm39)	N709S	probably benign	Het
Ctnnal1	T	C	4: 56,826,328 (GRCm39)	S512G	probably benign	Het
Dgcr8	C	T	16: 18,090,632 (GRCm39)	V581I	probably benign	Het
Dnaaf10	A	G	11: 17,174,638 (GRCm39)	T169A	probably benign	Het
Dnah7c	G	A	1: 46,678,825 (GRCm39)	V1790I	probably benign	Het
Efl1	A	G	7: 82,341,732 (GRCm39)	K452E	probably benign	Het
Epb42	A	C	2: 120,852,301 (GRCm39)	V564G	probably damaging	Het
Etv4	G	A	11: 101,662,282 (GRCm39)	P335S	probably damaging	Het
Fbxw9	T	A	8: 85,791,201 (GRCm39)		probably null	Het
Fcrl2	A	T	3: 87,170,775 (GRCm39)	L3Q	probably damaging	Het
Frmd8	C	A	19: 5,919,478 (GRCm39)	A190S	probably benign	Het
Gcm2	C	T	13: 41,256,991 (GRCm39)	D253N	probably benign	Het
Gfm1	T	C	3: 67,342,895 (GRCm39)	V143A	probably benign	Het
Gigyf2	T	C	1: 87,374,050 (GRCm39)	M1226T	possibly damaging	Het
Gm10110	C	T	14: 90,134,675 (GRCm39)		noncoding transcript	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm20939	T	G	17: 95,181,767 (GRCm39)	C55W	possibly damaging	Het
Gm5407	T	A	16: 49,117,229 (GRCm39)		noncoding transcript	Het
Golga4	A	G	9: 118,387,351 (GRCm39)	E1491G	probably damaging	Het
Hdac11	T	A	6: 91,146,364 (GRCm39)		probably null	Het
Hs3st3b1	C	T	11: 63,780,098 (GRCm39)	S343N	probably benign	Het
Igkv12-44	G	A	6: 69,792,075 (GRCm39)	P4S	probably benign	Het
Igkv1-35	C	T	6: 69,988,231 (GRCm39)	V22I	probably benign	Het
Kcns2	A	T	15: 34,839,068 (GRCm39)	T144S	probably benign	Het
Khdc1c	T	C	1: 21,439,266 (GRCm39)	V84A	possibly damaging	Het
Kif4-ps	T	A	12: 101,115,544 (GRCm39)		noncoding transcript	Het
Lamc2	T	G	1: 153,017,340 (GRCm39)	Y549S	probably benign	Het
Lect2	T	A	13: 56,696,154 (GRCm39)	I8F	probably benign	Het
Loxl3	T	A	6: 83,012,780 (GRCm39)		probably null	Het
Lrwd1	A	T	5: 136,152,516 (GRCm39)	I545N	possibly damaging	Het
Ltbp3	T	C	19: 5,797,572 (GRCm39)	C437R	probably damaging	Het
Lypd3	T	C	7: 24,339,787 (GRCm39)	S285P	probably benign	Het
Mast2	T	A	4: 116,190,622 (GRCm39)	H83L	possibly damaging	Het
Mfsd4b4	A	G	10: 39,768,635 (GRCm39)	F153L	probably benign	Het
Ms4a4b	T	A	19: 11,438,606 (GRCm39)		probably null	Het
Nbr1	T	A	11: 101,450,364 (GRCm39)	L41Q	probably damaging	Het
Nlrp4a	G	A	7: 26,152,814 (GRCm39)	C628Y	probably damaging	Het
Nup160	C	T	2: 90,553,740 (GRCm39)	R1157C	probably damaging	Het
Obscn	T	A	11: 58,891,533 (GRCm39)	I7000F	unknown	Het
Or4k41	T	A	2: 111,280,406 (GRCm39)		probably null	Het
Or4p21	A	T	2: 88,276,652 (GRCm39)	V210D	possibly damaging	Het
Or5ac15	TGAAGAAGAA	TGAAGAA	16: 58,940,335 (GRCm39)		probably benign	Het
Or5b122	T	G	19: 13,562,872 (GRCm39)	V25G	probably damaging	Het
Or8g2	A	T	9: 39,821,546 (GRCm39)	Y149F	probably damaging	Het
Pdilt	T	C	7: 119,094,217 (GRCm39)	K345E	probably damaging	Het
Ppp1r12b	A	T	1: 134,701,162 (GRCm39)		probably null	Het
Ppp2r1b	A	T	9: 50,778,132 (GRCm39)	Q219L	probably damaging	Het
Prim2	A	G	1: 33,493,232 (GRCm39)	S485P	unknown	Het
Prkdc	A	G	16: 15,482,097 (GRCm39)	D380G	probably damaging	Het
Psmg1	A	G	16: 95,783,369 (GRCm39)	L243S	probably damaging	Het
Rnft1	C	T	11: 86,384,032 (GRCm39)	R311*	probably null	Het
Scaper	T	A	9: 55,724,075 (GRCm39)	I628L	probably damaging	Het
Serpina3j	C	A	12: 104,281,185 (GRCm39)	H119Q	possibly damaging	Het
Slamf6	G	A	1: 171,745,341 (GRCm39)	V23I	probably damaging	Het
Slc12a5	T	A	2: 164,815,688 (GRCm39)	M45K	possibly damaging	Het
Slc25a11	A	C	11: 70,537,016 (GRCm39)	V13G	probably damaging	Het
Slc7a14	T	A	3: 31,292,856 (GRCm39)	Y143F	probably damaging	Het
Spryd3	A	G	15: 102,025,342 (GRCm39)		probably benign	Het
Stard13	C	A	5: 151,113,476 (GRCm39)	L28F	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Taf2	A	G	15: 54,923,335 (GRCm39)	V314A	probably benign	Het
Tas2r106	T	C	6: 131,655,086 (GRCm39)	N255S	possibly damaging	Het
Tbxa2r	T	A	10: 81,168,775 (GRCm39)	W155R	probably damaging	Het
Tcf3	A	G	10: 80,257,450 (GRCm39)		probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,404,959 (GRCm39)	D148G	probably damaging	Het
Vmn2r77	A	G	7: 86,461,235 (GRCm39)	N854D	probably benign	Het
Vstm4	A	T	14: 32,626,526 (GRCm39)	H64L	probably benign	Het
Wnk2	T	C	13: 49,256,276 (GRCm39)	T282A	probably damaging	Het
Zscan4c	A	T	7: 10,743,574 (GRCm39)	D391V	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
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
R6376:Rapgef5	UTSW	12	117,684,988 (GRCm39)	missense	probably damaging	1.00
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'- GGCTGGACTCTCACATACTCATC -3'
(R):5'- TGTTACTGTGGTCATCCAGC -3'

Sequencing Primer
(F):5'- AAATGCATCTACCTGCTTACGC -3'
(R):5'- TACTGTGGTCATCCAGCTGCAG -3'

Posted On

2016-11-21