Mutagenetix > Incidental Mutation

Incidental Mutation 'R2065:Rapgef5'

229107

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

040070-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2065 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117480146-117723472 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 117547739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 234 (C234*)

Ref Sequence

ENSEMBL: ENSMUSP00000152479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109691] [ENSMUST00000220781]

AlphaFold

Q8C0Q9

Predicted Effect

probably null
Transcript: ENSMUST00000109691
AA Change: C126*

SMART Domains

Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: C126*

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 null
Transcript: ENSMUST00000220781
AA Change: C234*

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Adh6a	T	A	3: 138,030,998 (GRCm39)	D162E	probably benign	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
AI182371	A	G	2: 34,976,441 (GRCm39)		probably null	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Aox1	T	C	1: 58,098,351 (GRCm39)		probably null	Het
Ap3b2	A	G	7: 81,113,522 (GRCm39)	S896P	unknown	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Atp11b	T	A	3: 35,893,223 (GRCm39)	Y859N	probably damaging	Het
Bag3	T	A	7: 128,147,498 (GRCm39)	V371D	probably damaging	Het
Bhmt	T	C	13: 93,754,120 (GRCm39)	Y363C	probably benign	Het
Btbd6	T	C	12: 112,941,755 (GRCm39)	Y356H	probably damaging	Het
C2cd2l	C	T	9: 44,227,632 (GRCm39)	R172Q	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,845,445 (GRCm39)		probably benign	Het
Cnksr2	A	C	X: 156,728,302 (GRCm39)	S224R	possibly damaging	Het
Cyp26b1	T	C	6: 84,553,537 (GRCm39)	M206V	probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ece1	A	T	4: 137,685,393 (GRCm39)	M628L	probably benign	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Erich6b	T	C	14: 75,896,351 (GRCm39)	I79T	probably benign	Het
F7	T	A	8: 13,085,183 (GRCm39)	V403D	probably damaging	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fbxw28	T	C	9: 109,157,292 (GRCm39)	K319E	probably benign	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Flg2	A	G	3: 93,109,538 (GRCm39)	E522G	unknown	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm7361	A	T	5: 26,467,149 (GRCm39)	D256V	probably damaging	Het
Hpse	A	G	5: 100,846,797 (GRCm39)	S211P	probably damaging	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Iqca1	T	C	1: 90,057,953 (GRCm39)	S249G	probably benign	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Khdc1a	T	A	1: 21,421,196 (GRCm39)	M127K	probably benign	Het
Klhl42	T	A	6: 147,003,161 (GRCm39)	W312R	probably damaging	Het
L3mbtl4	C	A	17: 68,732,687 (GRCm39)	Q56K	probably benign	Het
Lce1k	G	A	3: 92,714,164 (GRCm39)	Q7*	probably null	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Mbd1	C	A	18: 74,409,955 (GRCm39)	T373K	probably damaging	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Nbas	T	A	12: 13,616,158 (GRCm39)	L2232Q	probably damaging	Het
Ncr1	T	C	7: 4,341,206 (GRCm39)	F29L	probably benign	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2ag1	T	A	7: 106,313,373 (GRCm39)	R172W	probably benign	Het
Or2d3c	T	G	7: 106,526,162 (GRCm39)	Y168S	probably damaging	Het
Or4k45	A	G	2: 111,395,057 (GRCm39)	I244T	probably damaging	Het
Or5p63	T	C	7: 107,811,547 (GRCm39)	Y63C	probably damaging	Het
Or5p73	T	A	7: 108,064,875 (GRCm39)	C115S	possibly damaging	Het
Orc2	A	G	1: 58,508,854 (GRCm39)	V431A	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pigr	G	A	1: 130,778,617 (GRCm39)	G767D	probably benign	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Prokr1	T	C	6: 87,565,695 (GRCm39)	E50G	probably damaging	Het
Prph	A	T	15: 98,954,014 (GRCm39)	D196V	probably damaging	Het
Sin3a	T	A	9: 57,018,084 (GRCm39)	D834E	possibly damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc22a16	A	G	10: 40,461,016 (GRCm39)	I273V	possibly damaging	Het
Snx13	T	C	12: 35,188,065 (GRCm39)	M781T	possibly damaging	Het
Spag17	A	G	3: 99,920,524 (GRCm39)	I420V	probably benign	Het
Synj1	T	C	16: 90,788,537 (GRCm39)		probably null	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Tcaf2	T	A	6: 42,604,981 (GRCm39)	N601I	probably benign	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem132d	T	C	5: 127,861,505 (GRCm39)	D872G	probably benign	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Trpd52l3	T	C	19: 29,981,362 (GRCm39)	V39A	probably benign	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ubr5	T	C	15: 38,041,086 (GRCm39)	D266G	probably damaging	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably damaging	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
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
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'- TCTGAGTACAGCCTTGTCTATGG -3'
(R):5'- TCAAACAAGTGGGGATCTGCAG -3'

Sequencing Primer
(F):5'- GAGTACAGCCTTGTCTATGGATTCTC -3'
(R):5'- ATCTGCAGGCAGGCACAG -3'

Posted On

2014-09-17