Mutagenetix > Incidental Mutation

Incidental Mutation 'R1934:Rasgrf1'

215708

Institutional Source

Beutler Lab

Gene Symbol

Rasgrf1

Ensembl Gene

ENSMUSG00000032356

Gene Name

RAS protein-specific guanine nucleotide-releasing factor 1

Synonyms

Grf1, CDC25Mm, Grfbeta, CDC25

MMRRC Submission

039952-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89791961-89909030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89835966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 231 (Q231H)

Ref Sequence

ENSEMBL: ENSMUSP00000034912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034912]

AlphaFold

P27671

PDB Structure

Crystal Structure of the Cdc25 domain of RasGRF1 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034912
AA Change: Q231H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034912
Gene: ENSMUSG00000032356
AA Change: Q231H

Domain	Start	End	E-Value	Type
PH	23	132	2.48e-18	SMART
Blast:RhoGEF	146	196	4e-6	BLAST
IQ	205	227	5.27e0	SMART
RhoGEF	248	429	1.96e-57	SMART
PH	461	590	1.51e-8	SMART
RasGEFN	634	767	3.07e-10	SMART
low complexity region	844	855	N/A	INTRINSIC
RasGEFN	869	997	5.86e-7	SMART
RasGEF	1023	1260	1.85e-99	SMART

Meta Mutation Damage Score

0.1246

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygotes for null mutations (and heterozygotes with a paternally inherited mutant allele) exhibit reduced postnatal growth, low insulin and IGF I levels, glucose intolerance, beta-cell hypoplasia, impaired long-term synaptic plasticity, and impaired hippocampal-dependent learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,626,792 (GRCm39)	L548P	probably damaging	Het
Abca6	A	G	11: 110,100,909 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,871,235 (GRCm39)		probably null	Het
Acacb	G	A	5: 114,336,343 (GRCm39)	A686T	probably benign	Het
Acot6	T	C	12: 84,153,367 (GRCm39)	V203A	probably benign	Het
Adam25	A	T	8: 41,207,922 (GRCm39)	Y396F	probably benign	Het
Adamts9	A	G	6: 92,920,102 (GRCm39)	L12P	possibly damaging	Het
Adamtsl2	A	T	2: 26,979,605 (GRCm39)	D258V	probably damaging	Het
Aox4	G	A	1: 58,285,095 (GRCm39)	V616I	probably benign	Het
Ap1m1	A	G	8: 73,009,637 (GRCm39)	I382V	probably damaging	Het
Arhgef2	G	A	3: 88,537,098 (GRCm39)	R8Q	probably damaging	Het
Arhgef37	T	G	18: 61,657,014 (GRCm39)	E17A	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Arih1	T	C	9: 59,302,215 (GRCm39)	D431G	probably damaging	Het
Astn2	C	T	4: 65,353,426 (GRCm39)	V1115M	probably damaging	Het
Atg7	T	A	6: 114,678,196 (GRCm39)	M280K	probably damaging	Het
Birc2	T	C	9: 7,854,500 (GRCm39)	T397A	possibly damaging	Het
Ccdc110	A	G	8: 46,396,287 (GRCm39)	N726S	probably damaging	Het
Cdadc1	A	T	14: 59,827,309 (GRCm39)	S121T	possibly damaging	Het
Cdh16	A	G	8: 105,344,595 (GRCm39)	V7A	possibly damaging	Het
Cenpb	A	G	2: 131,021,184 (GRCm39)	S205P	probably benign	Het
Chsy1	T	C	7: 65,821,991 (GRCm39)	V742A	probably damaging	Het
Col12a1	G	A	9: 79,511,804 (GRCm39)	R133*	probably null	Het
Col18a1	A	C	10: 76,948,578 (GRCm39)	S311R	possibly damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Coq2	T	A	5: 100,809,731 (GRCm39)	R17S	probably damaging	Het
Ctf1	A	G	7: 127,311,936 (GRCm39)	R4G	probably damaging	Het
Cwc27	T	C	13: 104,768,184 (GRCm39)	D437G	probably benign	Het
Cyp4f14	T	C	17: 33,125,289 (GRCm39)	N430D	probably damaging	Het
Dars2	A	G	1: 160,890,811 (GRCm39)		probably null	Het
Dgkz	A	T	2: 91,767,449 (GRCm39)	M848K	possibly damaging	Het
Dnhd1	T	G	7: 105,357,789 (GRCm39)	V3208G	probably benign	Het
Dsg1b	A	G	18: 20,528,963 (GRCm39)	Y233C	probably damaging	Het
Edem3	A	T	1: 151,680,034 (GRCm39)	D460V	probably damaging	Het
Ednra	A	G	8: 78,415,747 (GRCm39)	S167P	possibly damaging	Het
Eif3m	A	T	2: 104,831,624 (GRCm39)	V180D	probably damaging	Het
Fam217a	T	A	13: 35,094,864 (GRCm39)	R207S	probably damaging	Het
Fcgbp	G	A	7: 27,806,518 (GRCm39)	G2162D	probably damaging	Het
Fhod3	A	T	18: 25,223,335 (GRCm39)	I894F	probably benign	Het
Fpgs	A	T	2: 32,577,993 (GRCm39)	I143N	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,152 (GRCm39)	S70P	probably benign	Het
Frs2	T	C	10: 116,914,806 (GRCm39)	M38V	probably damaging	Het
Fsip2	A	G	2: 82,810,902 (GRCm39)	N2407S	possibly damaging	Het
Gabrg2	T	A	11: 41,811,297 (GRCm39)	T283S	probably benign	Het
Gas2l1	T	A	11: 5,011,408 (GRCm39)	T474S	probably benign	Het
Gli1	A	T	10: 127,167,108 (GRCm39)	M715K	possibly damaging	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5800	T	A	14: 51,949,396 (GRCm39)	N183I	possibly damaging	Het
Gm8674	T	A	13: 50,055,471 (GRCm39)		noncoding transcript	Het
Gnat3	A	T	5: 18,224,508 (GRCm39)	I303F	possibly damaging	Het
Grin2d	C	T	7: 45,506,251 (GRCm39)	V547M	probably damaging	Het
Grpr	C	A	X: 162,332,137 (GRCm39)	V53L	probably benign	Het
Heatr5b	T	C	17: 79,103,347 (GRCm39)	I1169V	possibly damaging	Het
Icam5	A	G	9: 20,946,082 (GRCm39)	T305A	probably benign	Het
Itga11	T	A	9: 62,651,796 (GRCm39)	N309K	probably damaging	Het
Itgb6	T	C	2: 60,499,493 (GRCm39)	D100G	probably benign	Het
Kdm3b	A	G	18: 34,946,597 (GRCm39)	K862R	probably benign	Het
Kif7	T	C	7: 79,361,286 (GRCm39)	D135G	probably benign	Het
Lrp4	A	G	2: 91,310,777 (GRCm39)	D606G	probably damaging	Het
Lrrtm1	A	T	6: 77,221,949 (GRCm39)		probably null	Het
Metap1d	A	T	2: 71,352,927 (GRCm39)	H252L	possibly damaging	Het
Mfhas1	A	G	8: 36,058,251 (GRCm39)	K909E	possibly damaging	Het
Mrgprh	C	T	17: 13,095,838 (GRCm39)	T26I	probably damaging	Het
Myo15b	T	C	11: 115,754,310 (GRCm39)	S937P	probably benign	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nod2	T	C	8: 89,390,347 (GRCm39)	I196T	probably benign	Het
Nvl	T	G	1: 180,926,693 (GRCm39)	T788P	probably damaging	Het
Or13a25	C	A	7: 140,247,951 (GRCm39)	C243*	probably null	Het
Or2h2	A	T	17: 37,396,906 (GRCm39)	D50E	possibly damaging	Het
Pax3	G	A	1: 78,080,117 (GRCm39)	T423I	possibly damaging	Het
Pde4dip	A	G	3: 97,600,007 (GRCm39)	V2403A	possibly damaging	Het
Phip	C	T	9: 82,785,235 (GRCm39)	V827I	probably benign	Het
Plcb3	A	G	19: 6,941,977 (GRCm39)	F285L	probably damaging	Het
Pnp2	A	G	14: 51,193,675 (GRCm39)	I16V	probably benign	Het
Pola2	A	G	19: 6,003,769 (GRCm39)	L202P	probably damaging	Het
Ppfia1	A	T	7: 144,058,847 (GRCm39)	N651K	probably benign	Het
Prss53	T	C	7: 127,485,920 (GRCm39)		probably null	Het
Rasgrf2	A	T	13: 92,131,825 (GRCm39)		probably null	Het
Rccd1	T	A	7: 79,970,272 (GRCm39)	N115I	possibly damaging	Het
Rpgrip1	A	T	14: 52,352,101 (GRCm39)	T26S	possibly damaging	Het
Rpn1	T	A	6: 88,070,841 (GRCm39)	V237E	probably damaging	Het
Sema4f	G	T	6: 82,907,908 (GRCm39)	P180Q	probably damaging	Het
Slc36a4	T	C	9: 15,632,085 (GRCm39)	V87A	probably damaging	Het
Slc5a4b	A	T	10: 75,917,307 (GRCm39)	V243E	possibly damaging	Het
Sos2	T	G	12: 69,695,315 (GRCm39)	I141L	probably damaging	Het
Srbd1	A	G	17: 86,410,321 (GRCm39)	V537A	probably damaging	Het
Sugp1	A	G	8: 70,509,225 (GRCm39)	E166G	possibly damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tshr	T	C	12: 91,503,955 (GRCm39)	S298P	probably damaging	Het
Tspan14	T	C	14: 40,656,209 (GRCm39)	Y6C	probably damaging	Het
Ttn	A	T	2: 76,577,384 (GRCm39)	V24503E	probably damaging	Het
Vcan	T	A	13: 89,851,045 (GRCm39)	N1305I	probably damaging	Het
Vmn2r81	A	G	10: 79,083,628 (GRCm39)	M1V	probably null	Het
Vps39	A	T	2: 120,148,558 (GRCm39)	V873E	probably damaging	Het
Vstm2a	A	T	11: 16,359,734 (GRCm39)	D270V	unknown	Het
Wdr24	A	T	17: 26,043,240 (GRCm39)	M21L	possibly damaging	Het
Wee1	A	G	7: 109,721,698 (GRCm39)	T48A	probably benign	Het
Zfp369	T	C	13: 65,444,965 (GRCm39)	C703R	probably damaging	Het
Zfp532	A	T	18: 65,818,682 (GRCm39)	D1114V	probably damaging	Het
Zfp758	A	G	17: 22,592,633 (GRCm39)	T46A	probably damaging	Het

Other mutations in Rasgrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Rasgrf1	APN	9	89,852,534 (GRCm39)	missense	probably damaging	1.00
IGL00763:Rasgrf1	APN	9	89,853,073 (GRCm39)	missense	probably benign	0.05
IGL01336:Rasgrf1	APN	9	89,873,583 (GRCm39)	missense	probably benign	0.00
IGL01710:Rasgrf1	APN	9	89,873,745 (GRCm39)	missense	probably benign	0.18
IGL01807:Rasgrf1	APN	9	89,873,566 (GRCm39)	missense	probably damaging	0.99
IGL01939:Rasgrf1	APN	9	89,856,889 (GRCm39)	missense	probably damaging	0.99
IGL02453:Rasgrf1	APN	9	89,826,813 (GRCm39)	missense	possibly damaging	0.76
IGL02961:Rasgrf1	APN	9	89,863,702 (GRCm39)	missense	possibly damaging	0.88
IGL03009:Rasgrf1	APN	9	89,873,756 (GRCm39)	missense	possibly damaging	0.75
IGL03369:Rasgrf1	APN	9	89,892,504 (GRCm39)	missense	probably damaging	1.00
IGL03373:Rasgrf1	APN	9	89,899,084 (GRCm39)	splice site	probably benign
Malenkiy	UTSW	9	89,892,537 (GRCm39)	splice site	probably null
Pigeon	UTSW	9	89,849,968 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Rasgrf1	UTSW	9	89,797,626 (GRCm39)	missense	possibly damaging	0.91
R0234:Rasgrf1	UTSW	9	89,891,419 (GRCm39)	missense	probably damaging	1.00
R0629:Rasgrf1	UTSW	9	89,866,322 (GRCm39)	missense	probably damaging	1.00
R0685:Rasgrf1	UTSW	9	89,797,535 (GRCm39)	utr 3 prime	probably benign
R0730:Rasgrf1	UTSW	9	89,833,062 (GRCm39)	splice site	probably benign
R0835:Rasgrf1	UTSW	9	89,882,824 (GRCm39)	missense	probably benign
R1432:Rasgrf1	UTSW	9	89,894,853 (GRCm39)	missense	probably benign	0.35
R1647:Rasgrf1	UTSW	9	89,835,973 (GRCm39)	missense	probably benign	0.28
R1717:Rasgrf1	UTSW	9	89,835,966 (GRCm39)	missense	probably damaging	0.98
R1933:Rasgrf1	UTSW	9	89,835,966 (GRCm39)	missense	probably damaging	0.98
R2187:Rasgrf1	UTSW	9	89,876,888 (GRCm39)	missense	possibly damaging	0.93
R2240:Rasgrf1	UTSW	9	89,858,815 (GRCm39)	missense	probably damaging	0.99
R2940:Rasgrf1	UTSW	9	89,873,767 (GRCm39)	missense	possibly damaging	0.84
R3949:Rasgrf1	UTSW	9	89,863,797 (GRCm39)	splice site	probably benign
R4751:Rasgrf1	UTSW	9	89,894,919 (GRCm39)	missense	probably damaging	1.00
R4751:Rasgrf1	UTSW	9	89,792,171 (GRCm39)	missense	probably damaging	1.00
R4901:Rasgrf1	UTSW	9	89,877,056 (GRCm39)	missense	probably benign	0.00
R4910:Rasgrf1	UTSW	9	89,858,805 (GRCm39)	missense	probably benign	0.00
R4961:Rasgrf1	UTSW	9	89,826,922 (GRCm39)	missense	probably benign	0.06
R5270:Rasgrf1	UTSW	9	89,908,747 (GRCm39)	missense	probably benign	0.00
R5320:Rasgrf1	UTSW	9	89,902,478 (GRCm39)	missense	probably damaging	0.99
R5602:Rasgrf1	UTSW	9	89,793,624 (GRCm39)	missense	possibly damaging	0.73
R5659:Rasgrf1	UTSW	9	89,866,342 (GRCm39)	missense	probably damaging	1.00
R5960:Rasgrf1	UTSW	9	89,903,437 (GRCm39)	missense	possibly damaging	0.69
R6074:Rasgrf1	UTSW	9	89,835,968 (GRCm39)	missense	probably benign	0.01
R6400:Rasgrf1	UTSW	9	89,873,683 (GRCm39)	missense	probably damaging	1.00
R6596:Rasgrf1	UTSW	9	89,894,847 (GRCm39)	missense	possibly damaging	0.92
R6603:Rasgrf1	UTSW	9	89,792,310 (GRCm39)	missense	probably damaging	0.96
R6647:Rasgrf1	UTSW	9	89,892,516 (GRCm39)	missense	probably benign	0.00
R6813:Rasgrf1	UTSW	9	89,892,537 (GRCm39)	splice site	probably null
R7136:Rasgrf1	UTSW	9	89,873,651 (GRCm39)	missense	probably damaging	1.00
R7155:Rasgrf1	UTSW	9	89,884,414 (GRCm39)	missense	possibly damaging	0.90
R7175:Rasgrf1	UTSW	9	89,862,802 (GRCm39)	missense	probably benign	0.02
R7202:Rasgrf1	UTSW	9	89,899,125 (GRCm39)	missense	possibly damaging	0.49
R7219:Rasgrf1	UTSW	9	89,866,341 (GRCm39)	missense	probably damaging	1.00
R7244:Rasgrf1	UTSW	9	89,876,810 (GRCm39)	missense	probably damaging	1.00
R7733:Rasgrf1	UTSW	9	89,863,780 (GRCm39)	missense	probably benign	0.01
R7764:Rasgrf1	UTSW	9	89,876,747 (GRCm39)	missense	possibly damaging	0.94
R8210:Rasgrf1	UTSW	9	89,793,675 (GRCm39)	missense	unknown
R8421:Rasgrf1	UTSW	9	89,849,968 (GRCm39)	missense	probably damaging	1.00
R8524:Rasgrf1	UTSW	9	89,797,638 (GRCm39)	missense	possibly damaging	0.53
R8526:Rasgrf1	UTSW	9	89,856,901 (GRCm39)	missense	probably damaging	0.96
R8697:Rasgrf1	UTSW	9	89,877,055 (GRCm39)	missense	probably benign
R9133:Rasgrf1	UTSW	9	89,793,600 (GRCm39)	missense	probably benign
R9153:Rasgrf1	UTSW	9	89,826,790 (GRCm39)	missense	probably damaging	1.00
R9191:Rasgrf1	UTSW	9	89,883,923 (GRCm39)	missense	probably damaging	1.00
R9349:Rasgrf1	UTSW	9	89,884,460 (GRCm39)	missense	probably damaging	0.99
R9468:Rasgrf1	UTSW	9	89,880,756 (GRCm39)	missense	probably benign	0.00
R9498:Rasgrf1	UTSW	9	89,826,921 (GRCm39)	missense	probably benign
R9747:Rasgrf1	UTSW	9	89,877,047 (GRCm39)	missense	probably benign
R9779:Rasgrf1	UTSW	9	89,873,551 (GRCm39)	missense	probably damaging	0.99
Z1177:Rasgrf1	UTSW	9	89,832,970 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGCCCTATACATATCAGC -3'
(R):5'- TTCCGCTTACCTGTTCAGAAAG -3'

Sequencing Primer
(F):5'- ATACATATCAGCTCTTCTCCCTATAC -3'
(R):5'- AAGATACTGCTGACGTCGTC -3'

Posted On

2014-07-14