Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Rasgrp4'

607184

Institutional Source

Beutler Lab

Gene Symbol

Rasgrp4

Ensembl Gene

ENSMUSG00000030589

Gene Name

RAS guanyl releasing protein 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29134851-29153961 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29150610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 58 (P58L)

Ref Sequence

ENSEMBL: ENSMUSP00000125544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032811] [ENSMUST00000094617] [ENSMUST00000123416] [ENSMUST00000134176] [ENSMUST00000159351] [ENSMUST00000159975] [ENSMUST00000160194] [ENSMUST00000160396] [ENSMUST00000161522] [ENSMUST00000164589] [ENSMUST00000203070] [ENSMUST00000203380] [ENSMUST00000204194] [ENSMUST00000204845] [ENSMUST00000205027]

AlphaFold

Q8BTM9

Predicted Effect

probably benign
Transcript: ENSMUST00000032811

SMART Domains

Protein: ENSMUSP00000032811
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	162	1e-30	BLAST
low complexity region	163	188	N/A	INTRINSIC
RasGEF	197	433	2.92e-70	SMART
C1	541	590	4.12e-12	SMART
low complexity region	600	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094617

SMART Domains

Protein: ENSMUSP00000092200
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	163	2e-29	BLAST
low complexity region	164	189	N/A	INTRINSIC
RasGEF	198	434	2.92e-70	SMART
C1	542	596	1.81e-8	SMART
low complexity region	606	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123416

SMART Domains

Protein: ENSMUSP00000122992
Gene: ENSMUSG00000030590

Domain	Start	End	E-Value	Type
Pfam:DUF2465	6	125	8.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134176

SMART Domains

Protein: ENSMUSP00000120165
Gene: ENSMUSG00000030590

Domain	Start	End	E-Value	Type
Pfam:DUF2465	1	125	5.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144795

SMART Domains

Protein: ENSMUSP00000121796
Gene: ENSMUSG00000030590

Domain	Start	End	E-Value	Type
Pfam:DUF2465	5	175	1.7e-30	PFAM
Pfam:DUF2465	172	213	1.3e-14	PFAM
Pfam:DUF2465	211	242	6.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153251

SMART Domains

Protein: ENSMUSP00000117500
Gene: ENSMUSG00000030590

Domain	Start	End	E-Value	Type
Pfam:DUF2465	1	114	1.9e-22	PFAM
Pfam:DUF2465	111	196	1.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159351

SMART Domains

Protein: ENSMUSP00000124183
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	162	7e-31	BLAST
low complexity region	163	188	N/A	INTRINSIC
RasGEF	197	433	2.92e-70	SMART
Blast:RasGEF	449	553	7e-25	BLAST
SCOP:d1ptq__	541	573	1e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159975

SMART Domains

Protein: ENSMUSP00000125137
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	162	1e-30	BLAST
low complexity region	163	188	N/A	INTRINSIC
RasGEF	197	433	2.92e-70	SMART
C1	541	595	1.81e-8	SMART
low complexity region	605	614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160194

SMART Domains

Protein: ENSMUSP00000124908
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	162	8e-32	BLAST
low complexity region	163	188	N/A	INTRINSIC
RasGEF	197	423	6.73e-61	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000160396
AA Change: P58L

Predicted Effect

probably benign
Transcript: ENSMUST00000161522

SMART Domains

Protein: ENSMUSP00000123718
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	165	7e-32	BLAST
RasGEF	183	419	2.92e-70	SMART
C1	527	576	4.12e-12	SMART
low complexity region	586	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164589

SMART Domains

Protein: ENSMUSP00000131477
Gene: ENSMUSG00000030590

Domain	Start	End	E-Value	Type
Pfam:DUF2465	8	327	3.8e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203070

SMART Domains

Protein: ENSMUSP00000145352
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
RasGEFN	48	172	2.6e-3	SMART
RasGEF	197	504	1.8e-20	SMART
C1	449	498	2.1e-14	SMART
low complexity region	508	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203380

SMART Domains

Protein: ENSMUSP00000144753
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
RasGEFN	48	172	2.6e-3	SMART
RasGEF	197	364	3e-25	SMART
C1	472	521	2.1e-14	SMART
low complexity region	531	540	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204194

SMART Domains

Protein: ENSMUSP00000145259
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
RasGEFN	48	172	2.6e-3	SMART
RasGEF	85	336	1e-7	SMART
C1	444	493	2.1e-14	SMART
low complexity region	503	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204845

SMART Domains

Protein: ENSMUSP00000144774
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
RasGEFN	48	172	2.6e-3	SMART
RasGEF	197	399	8.7e-49	SMART
C1	507	556	2.1e-14	SMART
low complexity region	566	575	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205027

SMART Domains

Protein: ENSMUSP00000145186
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
RasGEFN	48	172	2.6e-3	SMART
C1	352	401	2.1e-14	SMART
low complexity region	411	420	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired neutrophil reactive oxygen species production and chemotaxis in vitro. Mice homozygous for another knock-out allele exhibit decreased susceptibility to induced colitis and arthritis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	T	A	19: 7,422,256	I456N	probably damaging	Het
Abca6	A	T	11: 110,191,628	V1173D	probably benign	Het
Ace	A	T	11: 105,972,379	M327L	probably benign	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicdl2	C	T	17: 23,666,017	Q231*	probably null	Het
Brms1l	A	T	12: 55,866,053	D277V	possibly damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Col6a3	G	T	1: 90,810,621	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,848,597	M262K	probably benign	Het
Cpxm2	G	T	7: 132,057,695	P481Q	possibly damaging	Het
Dnah12	G	T	14: 26,829,329	V2543F	probably benign	Het
Dock2	A	C	11: 34,273,698	D1145E	probably damaging	Het
Elf3	G	A	1: 135,254,352	R364W	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Epha3	A	G	16: 63,773,560	I55T	probably damaging	Het
Fam69c	G	A	18: 84,730,046		probably benign	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Gm10436	A	T	12: 88,176,083	I450N	probably benign	Het
Gm11568	A	T	11: 99,858,184	T72S	unknown	Het
Gm21994	C	T	2: 150,255,146	R121Q	probably benign	Het
Gm5415	A	C	1: 32,546,033	I265M	probably damaging	Het
Igkv3-1	C	T	6: 70,704,069	A84V	probably benign	Het
Il1rl2	A	C	1: 40,343,119	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,680,336	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,166,772	R667H	probably benign	Het
Kcnh7	G	A	2: 62,837,194	Q334*	probably null	Het
Lctl	A	C	9: 64,133,216	R480S	possibly damaging	Het
Lrba	T	G	3: 86,315,430	I617S	possibly damaging	Het
Marf1	G	T	16: 14,114,201	H1651N	probably benign	Het
Mitf	T	A	6: 97,993,196	Y142N	probably damaging	Het
Olfr569	A	G	7: 102,887,628	V175A	probably benign	Het
Olfr620	T	A	7: 103,611,772	I194F	possibly damaging	Het
Pecam1	A	G	11: 106,671,750	V708A	probably benign	Het
Pinlyp	C	T	7: 24,542,440		probably null	Het
Polh	G	A	17: 46,175,248	R382W	probably damaging	Het
Prdm10	A	G	9: 31,327,474	I221V	probably benign	Het
Pskh1	G	T	8: 105,913,090	R134L	probably benign	Het
Ptpre	A	G	7: 135,651,995	N6D	probably benign	Het
Rhbdf2	G	T	11: 116,602,240	C393*	probably null	Het
Rlf	T	C	4: 121,182,691	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,706,623	R2641*	probably null	Het
Simc1	A	G	13: 54,524,832	H331R	probably benign	Het
Skp2	A	G	15: 9,122,241	S256P	probably benign	Het
Smarcd2	T	C	11: 106,267,566	R10G	probably benign	Het
Spef2	A	G	15: 9,687,895	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,873,874	H1541R	probably damaging	Het
Top1	T	A	2: 160,714,088	L489Q	probably damaging	Het
Ttll13	C	T	7: 80,254,097	H258Y	probably damaging	Het
Unc80	A	G	1: 66,483,349	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,624	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,597,868	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,570,979	H58Y	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp467	T	C	6: 48,439,181	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,619,948	S721T	possibly damaging	Het

Other mutations in Rasgrp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Rasgrp4	APN	7	29148541	splice site	probably benign
IGL01145:Rasgrp4	APN	7	29151473	missense	possibly damaging	0.83
IGL01806:Rasgrp4	APN	7	29139050	missense	possibly damaging	0.83
IGL02023:Rasgrp4	APN	7	29138910	missense	probably damaging	1.00
IGL02499:Rasgrp4	APN	7	29151503	utr 3 prime	probably benign
IGL02989:Rasgrp4	APN	7	29148406	missense	probably damaging	1.00
IGL03281:Rasgrp4	APN	7	29146025	missense	possibly damaging	0.69
R0092:Rasgrp4	UTSW	7	29145132	missense	possibly damaging	0.74
R0390:Rasgrp4	UTSW	7	29145860	missense	probably damaging	1.00
R0614:Rasgrp4	UTSW	7	29145851	missense	probably damaging	1.00
R0628:Rasgrp4	UTSW	7	29140210	intron	probably benign
R1420:Rasgrp4	UTSW	7	29140345	missense	probably damaging	0.98
R1434:Rasgrp4	UTSW	7	29137727	critical splice donor site	probably null
R1664:Rasgrp4	UTSW	7	29140263	missense	probably benign	0.00
R1911:Rasgrp4	UTSW	7	29138877	missense	probably damaging	1.00
R2164:Rasgrp4	UTSW	7	29139045	missense	probably damaging	1.00
R4277:Rasgrp4	UTSW	7	29152594	unclassified	probably benign
R5024:Rasgrp4	UTSW	7	29148407	missense	probably damaging	1.00
R5423:Rasgrp4	UTSW	7	29145136	missense	probably damaging	1.00
R5813:Rasgrp4	UTSW	7	29145214	missense	probably damaging	1.00
R5823:Rasgrp4	UTSW	7	29137717	missense	probably benign	0.00
R6268:Rasgrp4	UTSW	7	29143068	missense	probably damaging	1.00
R6285:Rasgrp4	UTSW	7	29148383	missense	probably damaging	1.00
R7062:Rasgrp4	UTSW	7	29150194	missense	possibly damaging	0.92
R7269:Rasgrp4	UTSW	7	29148430	missense	probably damaging	1.00
R7471:Rasgrp4	UTSW	7	29145980	missense	probably damaging	1.00
R7535:Rasgrp4	UTSW	7	29139059	missense	probably benign
R7792:Rasgrp4	UTSW	7	29143102	missense	probably damaging	1.00
R7854:Rasgrp4	UTSW	7	29150610	missense	unknown
R8052:Rasgrp4	UTSW	7	29149937	missense	probably damaging	1.00
R8144:Rasgrp4	UTSW	7	29149117	missense	probably damaging	1.00
R8253:Rasgrp4	UTSW	7	29138862	missense	possibly damaging	0.63
R8256:Rasgrp4	UTSW	7	29143075	missense	probably damaging	1.00
R8671:Rasgrp4	UTSW	7	29143027	missense	probably damaging	0.99
R8675:Rasgrp4	UTSW	7	29143027	missense	probably damaging	0.99
R8872:Rasgrp4	UTSW	7	29139096	missense	possibly damaging	0.86
R9647:Rasgrp4	UTSW	7	29140492	missense	probably damaging	0.99
R9681:Rasgrp4	UTSW	7	29150262	missense	probably benign
Z1088:Rasgrp4	UTSW	7	29150536	intron	probably benign
Z1186:Rasgrp4	UTSW	7	29137587	missense	probably benign
Z1186:Rasgrp4	UTSW	7	29138816	missense	probably benign	0.01
Z1186:Rasgrp4	UTSW	7	29145877	missense	probably benign	0.01
Z1186:Rasgrp4	UTSW	7	29148560	missense	probably benign	0.01
Z1186:Rasgrp4	UTSW	7	29148635	missense	probably damaging	1.00
Z1186:Rasgrp4	UTSW	7	29150592	intron	probably benign
Z1186:Rasgrp4	UTSW	7	29150596	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGACAGGTGTGGAAATCAC -3'
(R):5'- CCTCCTGAGTATGTTAAAACCGC -3'

Sequencing Primer
(F):5'- AGACATTGTCTATCCTGGTATGC -3'
(R):5'- CCAGCCTGGGTTACAAAGTG -3'

Posted On

2019-12-20