Mutagenetix > Incidental Mutation

Incidental Mutation 'R7409:Rasgrp3'

574963

Institutional Source

Beutler Lab

Gene Symbol

Rasgrp3

Ensembl Gene

ENSMUSG00000071042

Gene Name

RAS, guanyl releasing protein 3

Synonyms

LOC240168

MMRRC Submission

045490-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7409 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75742891-75836049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75823411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 494 (I494N)

Ref Sequence

ENSEMBL: ENSMUSP00000092828 (fasta)

Gene Model

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

AlphaFold

Q6NZH9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095204
AA Change: I494N

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: I494N

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

possibly damaging
Transcript: ENSMUST00000164192
AA Change: I494N

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: I494N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (82/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,912,862 (GRCm39)	A1329V	probably benign	Het
Aida	A	G	1: 183,099,809 (GRCm39)	T215A	probably benign	Het
Alpk2	A	G	18: 65,440,023 (GRCm39)	S457P	probably benign	Het
Ap4b1	G	A	3: 103,719,474 (GRCm39)	V63I	probably damaging	Het
Apaf1	A	G	10: 90,903,108 (GRCm39)	V182A	probably damaging	Het
B4galnt4	G	A	7: 140,646,916 (GRCm39)		probably null	Het
Bltp2	G	T	11: 78,159,583 (GRCm39)	R544L	probably damaging	Het
Cacna1a	T	G	8: 85,260,031 (GRCm39)	D331E	probably damaging	Het
Carmil2	A	G	8: 106,419,423 (GRCm39)		probably null	Het
Cdkn1b	A	T	6: 134,898,280 (GRCm39)	Q133L	probably benign	Het
Cep192	G	C	18: 67,967,874 (GRCm39)	S786T	possibly damaging	Het
Cfap418	T	A	4: 10,881,834 (GRCm39)	C94S	probably benign	Het
Cfap97	G	A	8: 46,645,733 (GRCm39)	R537H	probably benign	Het
Clpx	C	G	9: 65,231,529 (GRCm39)	A552G	possibly damaging	Het
Cryl1	G	A	14: 57,523,842 (GRCm39)	T240I	probably damaging	Het
Ddx60	C	A	8: 62,411,612 (GRCm39)	T488K	probably benign	Het
Dennd4b	A	G	3: 90,181,259 (GRCm39)	H805R	probably benign	Het
Dnmbp	T	C	19: 43,878,996 (GRCm39)	D25G	unknown	Het
Dysf	A	C	6: 84,126,664 (GRCm39)	D1293A	probably benign	Het
Efl1	T	C	7: 82,347,121 (GRCm39)	L549P	probably damaging	Het
Eif5	T	C	12: 111,506,697 (GRCm39)		probably benign	Het
Eva1c	A	G	16: 90,666,544 (GRCm39)	K156E	probably damaging	Het
Fbxw10	T	G	11: 62,767,606 (GRCm39)	V814G	possibly damaging	Het
Gfap	C	T	11: 102,785,358 (GRCm39)	R206Q	probably benign	Het
Gjb6	A	T	14: 57,361,610 (GRCm39)	L217*	probably null	Het
Gpatch11	T	A	17: 79,146,595 (GRCm39)	L80Q	probably damaging	Het
Gramd1b	T	C	9: 40,238,727 (GRCm39)	Q225R	probably damaging	Het
Gsdmc2	A	G	15: 63,705,195 (GRCm39)	S173P	possibly damaging	Het
Hars1	C	G	18: 36,903,166 (GRCm39)	R388P	probably damaging	Het
Ighm	C	T	12: 113,385,852 (GRCm39)	R129H		Het
Igsf9	A	G	1: 172,322,841 (GRCm39)	I602V	probably benign	Het
Inpp4b	T	G	8: 82,679,314 (GRCm39)		probably null	Het
Itch	C	A	2: 155,041,302 (GRCm39)	T450K	probably damaging	Het
Kcnq1	T	C	7: 142,663,152 (GRCm39)	F20L	unknown	Het
Kmt2d	G	T	15: 98,753,235 (GRCm39)	A153E	probably damaging	Het
Macf1	T	A	4: 123,398,263 (GRCm39)	N750I	probably damaging	Het
Marveld2	T	A	13: 100,747,984 (GRCm39)	H365L	probably damaging	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mettl8	A	T	2: 70,803,687 (GRCm39)	V200E	probably damaging	Het
Mrgbp	T	G	2: 180,227,135 (GRCm39)	S157A	possibly damaging	Het
Mrps35	A	G	6: 146,957,481 (GRCm39)	T169A	possibly damaging	Het
Mycbp2	A	T	14: 103,526,180 (GRCm39)	Y551N	probably damaging	Het
Myo18b	T	C	5: 113,021,971 (GRCm39)	R474G	probably benign	Het
Nfx1	T	A	4: 41,021,830 (GRCm39)	S979R	possibly damaging	Het
Nlrp1a	T	C	11: 71,013,634 (GRCm39)	T539A	probably benign	Het
Oca2	T	A	7: 56,064,145 (GRCm39)	D713E	probably benign	Het
Omt2b	A	C	9: 78,235,894 (GRCm39)	Y73S	probably benign	Het
Or10aa1	T	A	1: 173,870,099 (GRCm39)	H194Q	probably benign	Het
Or13a27	C	T	7: 139,925,318 (GRCm39)	V195I	probably benign	Het
Or6c38	A	G	10: 128,929,081 (GRCm39)	I254T	probably damaging	Het
Or6c69	A	T	10: 129,748,120 (GRCm39)	V9D	possibly damaging	Het
Pde11a	G	T	2: 75,836,328 (GRCm39)	Q20K		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phrf1	C	A	7: 140,839,205 (GRCm39)	T800K	unknown	Het
Polr1f	T	G	12: 33,486,988 (GRCm39)	C150W	possibly damaging	Het
Pramel4	T	C	4: 143,795,061 (GRCm39)	S486P	probably benign	Het
Proc	T	C	18: 32,260,513 (GRCm39)	D204G	probably benign	Het
Samm50	A	G	15: 84,081,231 (GRCm39)	D53G	probably benign	Het
Satb1	T	C	17: 52,116,217 (GRCm39)	D22G	possibly damaging	Het
Scarf2	T	C	16: 17,624,918 (GRCm39)	S658P	probably damaging	Het
Sfta2	T	A	17: 35,925,410 (GRCm39)	I29K	unknown	Het
Slc15a4	A	T	5: 127,681,742 (GRCm39)	S292T	probably benign	Het
Slc37a1	C	T	17: 31,559,237 (GRCm39)	T439I	probably damaging	Het
Slc4a9	C	A	18: 36,663,858 (GRCm39)	P294Q	probably damaging	Het
Slc52a3	T	C	2: 151,846,086 (GRCm39)	S16P	probably damaging	Het
Slc6a15	A	G	10: 103,244,163 (GRCm39)	I468V	probably benign	Het
Spag17	T	C	3: 99,934,547 (GRCm39)	S610P	possibly damaging	Het
Spag17	A	T	3: 99,941,475 (GRCm39)	D738V	probably benign	Het
Ssbp4	T	C	8: 71,050,617 (GRCm39)	R269G	unknown	Het
Tbl1xr1	A	G	3: 22,257,354 (GRCm39)	T406A	possibly damaging	Het
Tep1	A	T	14: 51,104,312 (GRCm39)	V194D	possibly damaging	Het
Thbs4	A	T	13: 92,909,767 (GRCm39)	C343*	probably null	Het
Tmed10	A	T	12: 85,391,065 (GRCm39)	S158T	possibly damaging	Het
Trbv3	T	A	6: 41,025,524 (GRCm39)	V38E	probably damaging	Het
Ttc6	T	C	12: 57,743,772 (GRCm39)	M1258T	probably damaging	Het
Ttn	T	C	2: 76,589,320 (GRCm39)	D21281G	probably damaging	Het
Usp54	T	C	14: 20,602,313 (GRCm39)	R1346G	probably damaging	Het
Vmn2r8	C	A	5: 108,956,449 (GRCm39)	E58*	probably null	Het
Vps13d	C	T	4: 144,867,824 (GRCm39)	E2009K		Het
Vps33b	T	C	7: 79,935,017 (GRCm39)	I320T	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,553,786 (GRCm39)	Y143C	probably damaging	Het
Zfp213	C	T	17: 23,778,603 (GRCm39)		probably null	Het
Zfp219	A	T	14: 52,244,570 (GRCm39)	Y536*	probably null	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
R1664:Rasgrp3	UTSW	17	75,831,172 (GRCm39)	missense	probably damaging	1.00
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
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'- CTACTTATTGGGGAAGGCTTTGAC -3'
(R):5'- TCGTCTCAGGGAGCAATCAC -3'

Sequencing Primer
(F):5'- GGAAAAGTGAAAGTCTCTCATTTGC -3'
(R):5'- GGAGCAATCACACAACCGATTTTTG -3'

Posted On

2019-10-07