Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Rasgrp3'

380940

Institutional Source

Beutler Lab

Gene Symbol

Rasgrp3

Ensembl Gene

ENSMUSG00000071042

Gene Name

RAS, guanyl releasing protein 3

Synonyms

LOC240168

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75742891-75836049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75823350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 474 (M474V)

Ref Sequence

ENSEMBL: ENSMUSP00000129393 (fasta)

Gene Model

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

AlphaFold

Q6NZH9

Predicted Effect

probably benign
Transcript: ENSMUST00000095204
AA Change: M474V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: M474V

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 benign
Transcript: ENSMUST00000164192
AA Change: M474V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: M474V

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

Meta Mutation Damage Score

0.0803

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,694,639 (GRCm39)	L1142*	probably null	Het
Arl13b	C	A	16: 62,622,150 (GRCm39)	G381V	probably damaging	Het
Ash1l	G	T	3: 88,892,641 (GRCm39)	V1507F	probably damaging	Het
Babam2	T	A	5: 31,859,408 (GRCm39)	F38I	probably benign	Het
Bend4	T	C	5: 67,557,619 (GRCm39)	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,644,794 (GRCm39)		probably null	Het
Cacna1g	A	T	11: 94,319,973 (GRCm39)	L1401Q	probably damaging	Het
Ccdc192	C	T	18: 57,863,888 (GRCm39)	Q213*	probably null	Het
Cep192	T	C	18: 67,968,195 (GRCm39)	V893A	probably benign	Het
Cnot10	A	T	9: 114,447,012 (GRCm39)	Y355N	probably damaging	Het
Col6a5	G	C	9: 105,811,163 (GRCm39)	S785R	unknown	Het
Cpa3	A	G	3: 20,276,303 (GRCm39)	L310P	probably damaging	Het
Cux2	A	G	5: 122,015,152 (GRCm39)	I247T	probably benign	Het
Dab1	A	G	4: 104,561,449 (GRCm39)	T245A	probably benign	Het
Dmrta1	A	T	4: 89,579,985 (GRCm39)	D315V	probably damaging	Het
Dnah12	T	A	14: 26,583,762 (GRCm39)	L599*	probably null	Het
Dync1h1	T	C	12: 110,629,289 (GRCm39)	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,476,000 (GRCm39)	V1659A	probably damaging	Het
Flot2	G	A	11: 77,949,888 (GRCm39)	V406M	probably damaging	Het
Galnt2	A	G	8: 125,032,362 (GRCm39)	D75G	probably damaging	Het
Gcnt3	A	T	9: 69,942,464 (GRCm39)	C35S	probably damaging	Het
Gp2	A	G	7: 119,052,118 (GRCm39)	F199L	probably benign	Het
Gramd2b	C	T	18: 56,618,523 (GRCm39)	P244S	probably damaging	Het
Hhipl1	T	C	12: 108,278,203 (GRCm39)	L177P	probably damaging	Het
Homez	T	C	14: 55,095,264 (GRCm39)	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,217,572 (GRCm39)	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 53,185,009 (GRCm39)	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,692,798 (GRCm39)	C125R	probably benign	Het
Klhl7	G	A	5: 24,346,185 (GRCm39)	R277Q	possibly damaging	Het
Krt78	A	G	15: 101,855,334 (GRCm39)	S826P	probably benign	Het
Krtap14	T	C	16: 88,622,919 (GRCm39)	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,502,163 (GRCm39)		probably null	Het
Lrrc10b	G	A	19: 10,434,226 (GRCm39)	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,503,124 (GRCm39)	D398H	probably damaging	Het
Map3k19	T	C	1: 127,749,932 (GRCm39)	I1140V	probably benign	Het
Mos	G	A	4: 3,871,093 (GRCm39)	T241M	probably damaging	Het
Nol8	A	G	13: 49,807,901 (GRCm39)	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,104,798 (GRCm39)	S212A	probably benign	Het
Or2ak6	T	A	11: 58,592,633 (GRCm39)	F35L	probably damaging	Het
Pip4p2	G	T	4: 14,912,458 (GRCm39)	R189L	probably damaging	Het
Plec	G	T	15: 76,061,162 (GRCm39)	T2947K	probably damaging	Het
Pramel27	A	T	4: 143,578,187 (GRCm39)	Q149L	probably damaging	Het
Ryr1	T	C	7: 28,719,408 (GRCm39)	Y4333C	unknown	Het
Scrn2	G	C	11: 96,924,326 (GRCm39)		probably null	Het
Slc22a12	C	A	19: 6,587,791 (GRCm39)	V388L	probably benign	Het
Slc4a11	A	G	2: 130,526,866 (GRCm39)	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,335,195 (GRCm39)	F195S	probably damaging	Het
Slfn9	A	C	11: 82,872,216 (GRCm39)	M840R	possibly damaging	Het
Speer4b	T	C	5: 27,706,263 (GRCm39)	N35D	probably damaging	Het
Taf1d	T	A	9: 15,221,250 (GRCm39)	D185E	probably damaging	Het
Taok2	A	G	7: 126,475,213 (GRCm39)	L245P	probably damaging	Het
Tent4a	A	T	13: 69,651,019 (GRCm39)		probably null	Het
Ticam2	T	C	18: 46,693,846 (GRCm39)	I80M	probably damaging	Het
Tmem268	G	A	4: 63,502,164 (GRCm39)	V331I	probably benign	Het
Tsga10	T	C	1: 37,840,931 (GRCm39)	E425G	probably damaging	Het
Ttc7	A	G	17: 87,654,133 (GRCm39)		probably null	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Unc13a	T	C	8: 72,107,489 (GRCm39)	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,880,661 (GRCm39)	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,816,125 (GRCm39)	N743K	probably damaging	Het
Wnt6	C	A	1: 74,823,295 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,823,296 (GRCm39)		probably null	Het
Wnt8a	T	A	18: 34,680,525 (GRCm39)	C297S	probably damaging	Het
Zfp786	T	C	6: 47,797,087 (GRCm39)	Q617R	probably benign	Het
Zfp91	A	G	19: 12,753,774 (GRCm39)		probably null	Het
Zw10	T	A	9: 48,979,983 (GRCm39)	F371L	probably 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
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
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'- ACTTATTGGGGAAGGCTTTGAC -3'
(R):5'- GTCTCAGGGAGCAATCACAC -3'

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

Posted On

2016-04-15