Mutagenetix > Incidental Mutation

Incidental Mutation 'R4419:Rras'

326997

Institutional Source

Beutler Lab

Gene Symbol

Rras

Ensembl Gene

ENSMUSG00000038387

Gene Name

related RAS viral (r-ras) oncogene

Synonyms

Rras1

MMRRC Submission

041140-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44667385-44671071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44670003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 145 (D145G)

Ref Sequence

ENSEMBL: ENSMUSP00000042150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044111] [ENSMUST00000085383] [ENSMUST00000210895] [ENSMUST00000211680]

AlphaFold

P10833

Predicted Effect

probably damaging
Transcript: ENSMUST00000044111
AA Change: D145G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042150
Gene: ENSMUSG00000038387
AA Change: D145G

Domain	Start	End	E-Value	Type
RAS	27	193	2.25e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085383

SMART Domains

Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
low complexity region	59	78	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
low complexity region	185	224	N/A	INTRINSIC
coiled coil region	269	295	N/A	INTRINSIC
low complexity region	367	379	N/A	INTRINSIC
low complexity region	382	396	N/A	INTRINSIC
low complexity region	411	435	N/A	INTRINSIC
low complexity region	488	511	N/A	INTRINSIC
low complexity region	534	618	N/A	INTRINSIC
low complexity region	631	641	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
low complexity region	703	726	N/A	INTRINSIC
low complexity region	730	739	N/A	INTRINSIC
low complexity region	752	775	N/A	INTRINSIC
Blast:IG_like	776	833	6e-6	BLAST
low complexity region	843	873	N/A	INTRINSIC
low complexity region	876	888	N/A	INTRINSIC
low complexity region	917	937	N/A	INTRINSIC
coiled coil region	963	983	N/A	INTRINSIC
low complexity region	1025	1037	N/A	INTRINSIC
low complexity region	1098	1128	N/A	INTRINSIC
low complexity region	1136	1146	N/A	INTRINSIC
Blast:IG_like	1151	1194	2e-16	BLAST
low complexity region	1225	1256	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210056

Predicted Effect

probably benign
Transcript: ENSMUST00000210397

Predicted Effect

probably benign
Transcript: ENSMUST00000210895

Predicted Effect

probably benign
Transcript: ENSMUST00000211680

Meta Mutation Damage Score

0.9682

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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 small GTPase involved in diverse processes including angiogenesis, vascular homeostasis and regeneration, cell adhesion, and neuronal axon guidance. Mutations in this gene are found in many invasive cancers. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit enhanced neointimal thickening in response to arterial injury, increased angiogenesis in matrigel plugs and aortic ring cultures, and increased neovascularization of tumor implants, and decreased B-cell and increased T-cell population percentages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amdhd2	G	A	17: 24,377,652 (GRCm39)	P126L	probably benign	Het
Arfip2	T	C	7: 105,288,270 (GRCm39)	T44A	probably damaging	Het
B4galt1	A	G	4: 40,853,537 (GRCm39)	V90A	probably benign	Het
Bad	C	A	19: 6,928,053 (GRCm39)	A115E	probably benign	Het
Bicc1	A	G	10: 70,782,804 (GRCm39)	L521P	possibly damaging	Het
Caskin1	T	C	17: 24,723,683 (GRCm39)	S824P	probably damaging	Het
Cblb	T	A	16: 51,867,621 (GRCm39)	D76E	possibly damaging	Het
Celsr3	G	T	9: 108,720,443 (GRCm39)	A2572S	possibly damaging	Het
Csmd3	T	C	15: 47,567,707 (GRCm39)	Q2152R	probably damaging	Het
D2hgdh	T	A	1: 93,757,535 (GRCm39)	V150E	probably damaging	Het
Ddn	C	A	15: 98,703,492 (GRCm39)	W600L	probably benign	Het
Dicer1	A	T	12: 104,671,373 (GRCm39)	Y966N	probably damaging	Het
Dsp	T	A	13: 38,379,108 (GRCm39)	I1352N	probably damaging	Het
Duox1	G	A	2: 122,157,607 (GRCm39)	A578T	probably benign	Het
Dysf	T	C	6: 84,184,224 (GRCm39)		probably null	Het
Elmo2	T	C	2: 165,153,675 (GRCm39)		probably null	Het
Heg1	A	T	16: 33,547,805 (GRCm39)	E864V	probably benign	Het
Hoxb9	T	C	11: 96,162,807 (GRCm39)	V147A	probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Ky	G	A	9: 102,419,909 (GRCm39)	V639I	probably damaging	Het
Med16	G	A	10: 79,734,216 (GRCm39)	A566V	probably benign	Het
Mettl17	G	T	14: 52,124,729 (GRCm39)	G167C	possibly damaging	Het
Mgat4b	T	C	11: 50,123,813 (GRCm39)	F318L	probably damaging	Het
Mug2	C	A	6: 122,056,589 (GRCm39)	A1178D	probably damaging	Het
Myo3b	A	G	2: 69,926,706 (GRCm39)	D51G	probably damaging	Het
Naip2	T	C	13: 100,297,133 (GRCm39)	N968D	probably benign	Het
Nbea	T	C	3: 55,917,021 (GRCm39)	H820R	probably damaging	Het
Nqo1	C	T	8: 108,118,749 (GRCm39)		probably null	Het
Or10ak7	A	T	4: 118,791,586 (GRCm39)	I153N	possibly damaging	Het
Or6c68	T	C	10: 129,157,684 (GRCm39)	F64S	possibly damaging	Het
Or8b51	C	T	9: 38,569,365 (GRCm39)	V108I	probably benign	Het
Ppargc1a	T	C	5: 51,652,044 (GRCm39)	D218G	probably damaging	Het
Scn3a	C	A	2: 65,297,304 (GRCm39)	G1452C	probably damaging	Het
Slc22a2	C	A	17: 12,831,473 (GRCm39)	S421*	probably null	Het
Slc39a10	A	G	1: 46,849,226 (GRCm39)	F797L	probably benign	Het
Spta1	T	A	1: 174,074,990 (GRCm39)	Y2405*	probably null	Het
Ss18	A	G	18: 14,766,662 (GRCm39)	Y359H	unknown	Het
St14	C	T	9: 31,008,224 (GRCm39)	C537Y	probably damaging	Het
Tmem252	T	A	19: 24,654,910 (GRCm39)	Y96N	probably damaging	Het
Trafd1	T	C	5: 121,511,396 (GRCm39)	D474G	probably benign	Het
Trmt1l	A	G	1: 151,316,559 (GRCm39)	I20M	probably damaging	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vmn1r43	A	G	6: 89,846,629 (GRCm39)	S286P	probably benign	Het

Other mutations in Rras

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Rras	APN	7	44,670,709 (GRCm39)	missense	possibly damaging	0.89
R0553:Rras	UTSW	7	44,669,980 (GRCm39)	missense	probably benign	0.00
R1297:Rras	UTSW	7	44,670,003 (GRCm39)	missense	probably damaging	1.00
R2495:Rras	UTSW	7	44,667,488 (GRCm39)	missense	probably damaging	1.00
R5833:Rras	UTSW	7	44,670,715 (GRCm39)	missense	possibly damaging	0.72
R6042:Rras	UTSW	7	44,669,820 (GRCm39)	missense	probably damaging	0.97
R6291:Rras	UTSW	7	44,667,595 (GRCm39)	splice site	probably null
R7542:Rras	UTSW	7	44,669,766 (GRCm39)	missense	probably damaging	1.00
R7782:Rras	UTSW	7	44,670,529 (GRCm39)	missense	probably benign	0.33
R9411:Rras	UTSW	7	44,669,979 (GRCm39)	missense	possibly damaging	0.73
R9782:Rras	UTSW	7	44,669,945 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCCATTAACGACAGGCAG -3'
(R):5'- CTTGTTCAGGACAGGGGAAC -3'

Sequencing Primer
(F):5'- CCATTAACGACAGGCAGAGGTG -3'
(R):5'- TTAGAATCCCTCAGTGATGGCCAG -3'

Posted On

2015-07-07