Mutagenetix > Incidental Mutation

Incidental Mutation 'R1664:Rasgrp3'

187070

Institutional Source

Beutler Lab

Gene Symbol

Rasgrp3

Ensembl Gene

ENSMUSG00000071042

Gene Name

RAS, guanyl releasing protein 3

Synonyms

LOC240168

MMRRC Submission

039700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75742891-75836049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75831172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 524 (K524R)

Ref Sequence

ENSEMBL: ENSMUSP00000129393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095204] [ENSMUST00000164192]

AlphaFold

Q6NZH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000095204
AA Change: K524R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: K524R

Domain	Start	End	E-Value	Type
RasGEFN	2	125	6.77e-12	SMART
RasGEF	148	384	4.57e-104	SMART
EFh	424	452	1.07e-1	SMART
EFh	453	481	4.04e0	SMART
C1	495	544	5.47e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164192
AA Change: K524R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: K524R

Domain	Start	End	E-Value	Type
RasGEFN	2	125	6.77e-12	SMART
RasGEF	148	384	4.57e-104	SMART
EFh	424	452	1.07e-1	SMART
EFh	453	481	4.04e0	SMART
C1	495	544	5.47e-17	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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 RASGRP3, 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]
PHENOTYPE: Homozygous mutant mice are viable and fertile with no obvious abnormalities in the kidneys or vasculature. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	A	14: 35,533,772 (GRCm39)	T45S	probably benign	Het
Ackr1	A	G	1: 173,160,433 (GRCm39)	F29L	probably benign	Het
Adgrf2	T	A	17: 43,025,305 (GRCm39)	S60C	possibly damaging	Het
Alpk2	A	G	18: 65,482,944 (GRCm39)	C355R	probably damaging	Het
Ankmy1	A	C	1: 92,812,913 (GRCm39)	D465E	probably benign	Het
Ankrd27	T	A	7: 35,306,551 (GRCm39)	D310E	probably damaging	Het
Ap3d1	G	A	10: 80,553,571 (GRCm39)	Q559*	probably null	Het
C4b	T	C	17: 34,951,952 (GRCm39)	T1298A	probably damaging	Het
Casr	T	A	16: 36,330,327 (GRCm39)	K336*	probably null	Het
Ccdc116	A	T	16: 16,960,492 (GRCm39)	D108E	probably benign	Het
Ccdc168	T	A	1: 44,098,387 (GRCm39)	I904F	possibly damaging	Het
Ccr7	A	T	11: 99,036,517 (GRCm39)	I135N	possibly damaging	Het
Cd96	A	G	16: 45,938,364 (GRCm39)	Y34H	possibly damaging	Het
Cdan1	T	A	2: 120,550,987 (GRCm39)	D1135V	probably damaging	Het
Cecr2	C	A	6: 120,738,987 (GRCm39)	T1210K	probably damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Chd9	T	G	8: 91,749,418 (GRCm39)		probably null	Het
Cntnap5c	G	T	17: 58,600,985 (GRCm39)	W776L	probably benign	Het
Col24a1	G	A	3: 145,095,355 (GRCm39)		probably null	Het
Cpa2	G	T	6: 30,554,314 (GRCm39)	M311I	probably damaging	Het
Cpz	A	G	5: 35,664,087 (GRCm39)	F483L	probably damaging	Het
Ddx19a	A	C	8: 111,716,130 (GRCm39)	V90G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw7	A	G	3: 84,876,478 (GRCm39)	D213G	possibly damaging	Het
Fgd2	T	C	17: 29,588,273 (GRCm39)	F362L	probably damaging	Het
Fryl	A	G	5: 73,216,778 (GRCm39)	Y2171H	probably damaging	Het
Gba2	T	C	4: 43,578,080 (GRCm39)	R90G	probably benign	Het
Gm10073	T	C	8: 107,299,864 (GRCm39)	E40G	probably damaging	Het
Grhl3	T	C	4: 135,279,861 (GRCm39)	I398V	probably benign	Het
Grip2	T	A	6: 91,742,233 (GRCm39)	H899L	probably damaging	Het
Grk2	T	C	19: 4,337,268 (GRCm39)	K644E	possibly damaging	Het
Iars1	A	T	13: 49,865,251 (GRCm39)	T576S	probably damaging	Het
Kif26b	G	A	1: 178,759,704 (GRCm39)	V2084M	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc69	G	A	4: 14,775,079 (GRCm39)	T63M	probably damaging	Het
Lrrn4	A	T	2: 132,711,886 (GRCm39)	C646S	probably damaging	Het
Mtf2	C	T	5: 108,252,342 (GRCm39)	T457M	probably damaging	Het
Ncln	A	T	10: 81,323,555 (GRCm39)	C531S	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j8	T	C	17: 38,263,784 (GRCm39)	I44V	probably benign	Het
Or5v1	C	T	17: 37,810,316 (GRCm39)	T258M	possibly damaging	Het
Or8c11	A	T	9: 38,289,548 (GRCm39)	M124L	possibly damaging	Het
Otogl	A	G	10: 107,642,437 (GRCm39)	V1331A	probably benign	Het
Palb2	A	G	7: 121,723,615 (GRCm39)		probably benign	Het
Pcdh20	T	C	14: 88,705,758 (GRCm39)	E514G	possibly damaging	Het
Pclaf	A	G	9: 65,797,730 (GRCm39)	N7S	probably benign	Het
Pdrg1	C	T	2: 152,857,248 (GRCm39)		probably benign	Het
Phf8-ps	T	A	17: 33,285,492 (GRCm39)	I437F	probably damaging	Het
Pik3r6	T	A	11: 68,426,932 (GRCm39)	D464E	probably benign	Het
Pkp3	A	G	7: 140,667,560 (GRCm39)	N454D	probably damaging	Het
Plekha7	C	A	7: 115,734,269 (GRCm39)		probably null	Het
Ppip5k1	A	G	2: 121,167,663 (GRCm39)	V784A	probably benign	Het
Ppp1r36	T	A	12: 76,483,028 (GRCm39)	D205E	possibly damaging	Het
Prss35	A	T	9: 86,637,700 (GRCm39)	T157S	probably benign	Het
Ptprn2	T	C	12: 117,125,329 (GRCm39)	L621P	probably damaging	Het
Rasgrp4	T	A	7: 28,839,688 (GRCm39)	H133Q	probably benign	Het
Reln	A	T	5: 22,134,084 (GRCm39)	Y2615N	probably damaging	Het
Rpf1	T	A	3: 146,217,903 (GRCm39)	T204S	probably benign	Het
Scgb2b3	T	A	7: 31,058,464 (GRCm39)	*113L	probably null	Het
Scn5a	A	C	9: 119,350,243 (GRCm39)	L877R	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,256,821 (GRCm39)	D632E	probably benign	Het
Slc39a10	T	C	1: 46,865,269 (GRCm39)	H522R	probably damaging	Het
Spink2	A	T	5: 77,354,855 (GRCm39)	C19S	probably damaging	Het
Spsb4	A	G	9: 96,878,266 (GRCm39)	L19P	possibly damaging	Het
St7l	T	C	3: 104,778,214 (GRCm39)	V117A	probably damaging	Het
Stac2	C	T	11: 97,933,420 (GRCm39)	S174N	probably damaging	Het
Sult4a1	A	G	15: 83,970,818 (GRCm39)	Y196H	probably benign	Het
Tex2	C	T	11: 106,458,608 (GRCm39)		probably benign	Het
Tprg1l	A	T	4: 154,243,862 (GRCm39)	V98D	possibly damaging	Het
Ttn	G	A	2: 76,548,369 (GRCm39)	H31978Y	probably damaging	Het
Ttn	T	C	2: 76,658,853 (GRCm39)		probably benign	Het
Tyk2	C	A	9: 21,031,649 (GRCm39)	R447L	probably damaging	Het
Ucn3	T	C	13: 3,991,634 (GRCm39)	Y6C	possibly damaging	Het
Urb1	A	T	16: 90,584,970 (GRCm39)		probably null	Het
Vmn2r94	G	C	17: 18,464,406 (GRCm39)	A628G	probably damaging	Het
Wdr95	C	A	5: 149,518,752 (GRCm39)	T389K	probably damaging	Het
Wrn	A	T	8: 33,770,794 (GRCm39)		probably null	Het
Xab2	T	A	8: 3,669,068 (GRCm39)		probably null	Het
Zfp458	A	T	13: 67,406,144 (GRCm39)	N95K	possibly damaging	Het
Zfp672	T	C	11: 58,208,138 (GRCm39)	H61R	probably damaging	Het
Zfp942	C	T	17: 22,147,420 (GRCm39)	G403E	possibly damaging	Het

Other mutations in Rasgrp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02270:Rasgrp3	APN	17	75,823,368 (GRCm39)	missense	probably benign	0.00
IGL02529:Rasgrp3	APN	17	75,832,097 (GRCm39)	missense	possibly damaging	0.84
IGL02672:Rasgrp3	APN	17	75,803,412 (GRCm39)	missense	probably benign	0.00
IGL02935:Rasgrp3	APN	17	75,804,065 (GRCm39)	missense	probably benign	0.00
Aster	UTSW	17	75,816,822 (GRCm39)	splice site	probably null
aston	UTSW	17	75,807,753 (GRCm39)	critical splice donor site	probably null
centre	UTSW	17	75,807,729 (GRCm39)	missense	possibly damaging	0.50
P0021:Rasgrp3	UTSW	17	75,807,708 (GRCm39)	missense	probably damaging	1.00
PIT4243001:Rasgrp3	UTSW	17	75,807,134 (GRCm39)	missense	probably damaging	1.00
R0090:Rasgrp3	UTSW	17	75,805,456 (GRCm39)	missense	probably damaging	1.00
R0907:Rasgrp3	UTSW	17	75,816,822 (GRCm39)	splice site	probably null
R1182:Rasgrp3	UTSW	17	75,810,185 (GRCm39)	missense	probably benign	0.01
R1412:Rasgrp3	UTSW	17	75,816,822 (GRCm39)	splice site	probably null
R1572:Rasgrp3	UTSW	17	75,807,729 (GRCm39)	missense	possibly damaging	0.50
R2094:Rasgrp3	UTSW	17	75,810,136 (GRCm39)	missense	probably damaging	1.00
R2111:Rasgrp3	UTSW	17	75,807,753 (GRCm39)	critical splice donor site	probably null
R3026:Rasgrp3	UTSW	17	75,831,916 (GRCm39)	missense	possibly damaging	0.52
R4052:Rasgrp3	UTSW	17	75,803,963 (GRCm39)	missense	probably damaging	1.00
R4348:Rasgrp3	UTSW	17	75,818,975 (GRCm39)	missense	probably benign	0.00
R4509:Rasgrp3	UTSW	17	75,807,668 (GRCm39)	missense	probably damaging	1.00
R4642:Rasgrp3	UTSW	17	75,805,443 (GRCm39)	missense	possibly damaging	0.64
R4791:Rasgrp3	UTSW	17	75,807,168 (GRCm39)	missense	probably benign	0.37
R4901:Rasgrp3	UTSW	17	75,821,111 (GRCm39)	nonsense	probably null
R4927:Rasgrp3	UTSW	17	75,823,350 (GRCm39)	missense	probably benign	0.00
R5410:Rasgrp3	UTSW	17	75,804,042 (GRCm39)	missense	probably benign	0.01
R5444:Rasgrp3	UTSW	17	75,810,370 (GRCm39)	missense	probably damaging	0.99
R5483:Rasgrp3	UTSW	17	75,832,013 (GRCm39)	missense	probably damaging	1.00
R5518:Rasgrp3	UTSW	17	75,823,354 (GRCm39)	missense	probably benign	0.36
R5755:Rasgrp3	UTSW	17	75,831,940 (GRCm39)	missense	probably benign	0.44
R5845:Rasgrp3	UTSW	17	75,810,142 (GRCm39)	missense	possibly damaging	0.61
R6310:Rasgrp3	UTSW	17	75,801,204 (GRCm39)	missense	probably damaging	1.00
R6604:Rasgrp3	UTSW	17	75,810,110 (GRCm39)	missense	probably benign	0.10
R6826:Rasgrp3	UTSW	17	75,810,241 (GRCm39)	missense	probably damaging	1.00
R7409:Rasgrp3	UTSW	17	75,823,411 (GRCm39)	missense	possibly damaging	0.48
R7507:Rasgrp3	UTSW	17	75,804,055 (GRCm39)	missense	probably damaging	1.00
R7536:Rasgrp3	UTSW	17	75,821,128 (GRCm39)	missense	probably damaging	1.00
R7538:Rasgrp3	UTSW	17	75,803,411 (GRCm39)	missense	probably benign
R8089:Rasgrp3	UTSW	17	75,804,056 (GRCm39)	missense	possibly damaging	0.54
R8677:Rasgrp3	UTSW	17	75,819,055 (GRCm39)	missense	probably benign	0.00
R9483:Rasgrp3	UTSW	17	75,807,717 (GRCm39)	missense	probably benign	0.22
R9521:Rasgrp3	UTSW	17	75,821,158 (GRCm39)	missense	probably null	1.00
R9557:Rasgrp3	UTSW	17	75,807,139 (GRCm39)	missense	probably damaging	0.98
R9727:Rasgrp3	UTSW	17	75,810,239 (GRCm39)	missense	probably damaging	1.00
R9757:Rasgrp3	UTSW	17	75,807,719 (GRCm39)	missense	probably damaging	1.00
X0011:Rasgrp3	UTSW	17	75,832,161 (GRCm39)	nonsense	probably null
Z1177:Rasgrp3	UTSW	17	75,819,090 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGAGCAGCTCCATCCTGTTTGTG -3'
(R):5'- AACCGTGTGTCTGACTCAGCTTCC -3'

Sequencing Primer
(F):5'- TGTGAGCCACCAGTTGTTG -3'
(R):5'- GTCTGACTCAGCTTCCAGAGTG -3'

Posted On

2014-05-09