Mutagenetix > Incidental Mutation

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

mr-gef, D030051B22Rik

MMRRC Submission

044102-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117480146-117723472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117712161 bp (GRCm39)

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]

AlphaFold

Q8C0Q9

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: 36,533,718 (GRCm39)		probably null	Het
Acat1	A	T	9: 53,503,366 (GRCm39)	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,260,561 (GRCm39)	A924E	probably damaging	Het
Alad	G	T	4: 62,428,359 (GRCm39)	T305K	probably benign	Het
Als2cl	G	T	9: 110,727,152 (GRCm39)	R906L	probably damaging	Het
Ap3d1	T	C	10: 80,558,761 (GRCm39)	N281S	possibly damaging	Het
Arf4	A	G	14: 26,375,079 (GRCm39)	T113A	probably benign	Het
Asah2	T	C	19: 31,993,914 (GRCm39)	D438G	probably damaging	Het
Cachd1	C	A	4: 100,840,753 (GRCm39)	N905K	probably damaging	Het
Catsperb	T	A	12: 101,568,959 (GRCm39)	M877K	possibly damaging	Het
Cc2d2a	A	T	5: 43,869,768 (GRCm39)	M890L	probably benign	Het
Cd180	A	T	13: 102,842,541 (GRCm39)	H529L	possibly damaging	Het
Cdh23	G	T	10: 60,370,314 (GRCm39)	D160E	probably damaging	Het
Chd7	C	A	4: 8,840,553 (GRCm39)	N1440K	possibly damaging	Het
Cntln	T	A	4: 84,889,410 (GRCm39)	S298T	probably benign	Het
Cplx3	A	G	9: 57,515,546 (GRCm39)	I443T	probably damaging	Het
Dmap1	G	T	4: 117,533,963 (GRCm39)	T132K	probably benign	Het
Dnah11	C	T	12: 117,918,659 (GRCm39)	G3424E	probably damaging	Het
Dnah5	T	A	15: 28,387,979 (GRCm39)	M3146K	probably damaging	Het
Egfr	A	T	11: 16,861,494 (GRCm39)	E1091V	probably damaging	Het
Eps8l2	T	C	7: 140,937,746 (GRCm39)	F422S	possibly damaging	Het
F2r	A	G	13: 95,741,121 (GRCm39)	V138A	possibly damaging	Het
Faf1	T	A	4: 109,748,126 (GRCm39)	M477K	probably benign	Het
Fam149b	C	T	14: 20,409,978 (GRCm39)	T235M	probably benign	Het
Fan1	C	A	7: 64,003,399 (GRCm39)	A808S	probably benign	Het
Fbxl20	A	G	11: 98,006,271 (GRCm39)	I38T	probably damaging	Het
Fnbp4	C	A	2: 90,581,478 (GRCm39)	T177K	probably benign	Het
Gm9747	T	C	1: 82,212,019 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,821,397 (GRCm39)	D354G	probably benign	Het
Grk4	A	C	5: 34,869,074 (GRCm39)	Y189S	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,199,706 (GRCm39)	N63D	probably benign	Het
Hk1	C	A	10: 62,188,837 (GRCm39)	K25N	probably null	Het
Hrc	G	A	7: 44,985,658 (GRCm39)	G270S	probably damaging	Het
Inhba	T	A	13: 16,191,893 (GRCm39)	W5R	probably benign	Het
Lipm	T	C	19: 34,089,311 (GRCm39)	S90P	probably benign	Het
Lmod3	T	A	6: 97,224,575 (GRCm39)	E415D	probably damaging	Het
Lrrc37	A	T	11: 103,505,081 (GRCm39)	S2296T	probably damaging	Het
Lrrc63	A	G	14: 75,323,614 (GRCm39)	S537P	possibly damaging	Het
Map9	T	A	3: 82,287,555 (GRCm39)		probably null	Het
Marf1	T	A	16: 13,945,113 (GRCm39)	Q1252L	probably damaging	Het
Mc3r	A	T	2: 172,091,129 (GRCm39)	D117V	probably damaging	Het
Mepce	A	G	5: 137,782,982 (GRCm39)	V448A	possibly damaging	Het
Mical1	A	T	10: 41,362,873 (GRCm39)	M973L	probably benign	Het
Mmp21	T	C	7: 133,280,443 (GRCm39)	T176A	probably benign	Het
Nacc2	A	G	2: 25,951,590 (GRCm39)	V415A	probably damaging	Het
Neb	G	A	2: 52,083,243 (GRCm39)	T1639I	probably damaging	Het
Nfia	A	G	4: 97,999,488 (GRCm39)	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,257,762 (GRCm39)	T460I	probably benign	Het
Or10p21	A	T	10: 128,847,156 (GRCm39)	M1L	probably benign	Het
Or52z15	T	A	7: 103,332,781 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	C	7: 104,964,158 (GRCm39)	Y316H	probably benign	Het
Or8g24	T	A	9: 38,989,379 (GRCm39)	I221F	probably damaging	Het
Or8k32	T	A	2: 86,369,113 (GRCm39)	I49F	possibly damaging	Het
Or9s13	T	A	1: 92,547,864 (GRCm39)	C79S	possibly damaging	Het
Otoa	T	A	7: 120,693,824 (GRCm39)	L68Q	probably damaging	Het
Pclo	A	T	5: 14,730,399 (GRCm39)		probably benign	Het
Pcsk2	T	A	2: 143,591,060 (GRCm39)	Y186N	probably damaging	Het
Pigz	A	G	16: 31,764,246 (GRCm39)	T435A	probably benign	Het
Pja2	T	C	17: 64,616,085 (GRCm39)	D270G	probably benign	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Popdc3	A	G	10: 45,194,015 (GRCm39)	D272G	probably benign	Het
Prr5	A	T	15: 84,626,178 (GRCm39)	K84N	possibly damaging	Het
Prss36	T	C	7: 127,532,744 (GRCm39)	D716G	probably benign	Het
Slc4a11	T	A	2: 130,526,972 (GRCm39)	I719F	probably damaging	Het
Smpd2	A	G	10: 41,365,344 (GRCm39)	W51R	probably damaging	Het
Snrpb	T	A	2: 130,021,196 (GRCm39)		probably benign	Het
Sox9	A	G	11: 112,674,646 (GRCm39)	E148G	probably damaging	Het
Strbp	G	A	2: 37,515,267 (GRCm39)	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,707,685 (GRCm39)	M145K	probably damaging	Het
Syt17	T	C	7: 118,036,141 (GRCm39)	D74G	probably benign	Het
Taf5l	A	C	8: 124,729,714 (GRCm39)		probably null	Het
Tas2r131	T	G	6: 132,934,639 (GRCm39)	I57L	probably benign	Het
Tcf25	A	G	8: 124,108,176 (GRCm39)	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,255,268 (GRCm39)	T57A	possibly damaging	Het
Trrap	A	G	5: 144,786,730 (GRCm39)	K3170R	possibly damaging	Het
Tspan17	A	G	13: 54,941,111 (GRCm39)	N130S	probably damaging	Het
Vmn1r216	C	T	13: 23,283,367 (GRCm39)	L17F	probably damaging	Het
Vmn2r3	T	A	3: 64,182,698 (GRCm39)	T334S	probably benign	Het
Wnk2	G	T	13: 49,229,821 (GRCm39)	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,284,275 (GRCm39)	T947A	probably benign	Het
Zfhx3	C	T	8: 109,520,135 (GRCm39)	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549 (GRCm39)	S258P	probably damaging	Het
Zfp354c	T	C	11: 50,706,253 (GRCm39)	Y274C	probably damaging	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	probably benign	Het
Zfp964	A	G	8: 70,116,563 (GRCm39)	T388A	unknown	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
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'- TAAGGAAGTCTATTCTGCCCAC -3'
(R):5'- CACTGTTCCATATGCCCAAAGAG -3'

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

Posted On

2017-02-15