Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03370:Rapgef5'

420263

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rapgef5

Ensembl Gene

ENSMUSG00000041992

Gene Name

Rap guanine nucleotide exchange factor (GEF) 5

Synonyms

D030051B22Rik, mr-gef

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03370

Quality Score

Status

Chromosome

Chromosomal Location

117516479-117759737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 117730559 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 372 (T372K)

Ref Sequence

ENSEMBL: ENSMUSP00000152339 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109691
AA Change: T606K

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

SMART Domains

Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: T606K

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: T404K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222185
AA Change: T372K

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

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	A	G	4: 56,741,173	Y62H	probably damaging	Het
Cfap52	A	G	11: 67,939,055	I296T	probably damaging	Het
Col14a1	A	G	15: 55,488,541		probably null	Het
Daam2	G	T	17: 49,486,501	D329E	probably benign	Het
Defb26	A	G	2: 152,507,982	V126A	probably benign	Het
Fasn	A	T	11: 120,812,795	I1535N	possibly damaging	Het
Fbxw15	A	T	9: 109,555,151	Y431N	probably benign	Het
Fbxw26	T	G	9: 109,746,019	I13L	probably damaging	Het
Fggy	A	T	4: 95,822,064	H300L	probably damaging	Het
Fndc3c1	G	A	X: 106,420,701	T1277I	probably benign	Het
Gigyf1	G	T	5: 137,525,690	V1041L	possibly damaging	Het
Kif26b	G	A	1: 178,915,381	R567H	probably benign	Het
Kpna6	G	A	4: 129,655,521	T156M	probably damaging	Het
Lrrc37a	C	T	11: 103,497,673	E2309K	unknown	Het
Lyn	T	C	4: 3,780,931	Y357H	possibly damaging	Het
Mki67	A	G	7: 135,695,490	V2605A	probably benign	Het
Mtmr3	T	C	11: 4,487,385	D1023G	probably damaging	Het
Muc5b	G	T	7: 141,864,777	R3820L	probably benign	Het
Mus81	A	G	19: 5,484,963		probably benign	Het
Nup188	A	G	2: 30,340,641	Y1397C	possibly damaging	Het
Pgd	A	T	4: 149,165,228	V29D	probably damaging	Het
Plch2	T	C	4: 154,986,914	S244G	probably benign	Het
Rb1	A	G	14: 73,282,866		probably null	Het
Ryr3	A	T	2: 112,756,599	V2680E	possibly damaging	Het
Sgsm3	A	C	15: 81,011,654		probably null	Het
Slc38a1	C	T	15: 96,579,347	V362I	possibly damaging	Het
Sun1	T	A	5: 139,231,131	D308E	probably damaging	Het
Tns1	C	T	1: 73,985,894	V387M	probably damaging	Het
Ttn	C	A	2: 76,751,739	G22937C	probably damaging	Het
Ubr1	C	A	2: 120,895,160	A1258S	probably benign	Het
Vmn2r74	A	G	7: 85,958,057	F153L	probably benign	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
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
R5905:Rapgef5	UTSW	12	117748426	missense	probably damaging	1.00
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

Posted On

2016-08-02