Mutagenetix > Incidental Mutation

Incidental Mutation 'R0553:Rras'

45283

Institutional Source

Beutler Lab

Gene Symbol

Rras

Ensembl Gene

ENSMUSG00000038387

Gene Name

related RAS viral (r-ras) oncogene

Synonyms

Rras1

MMRRC Submission

038745-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44667385-44671071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44669980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 137 (I137M)

Ref Sequence

ENSEMBL: ENSMUSP00000042150 (fasta)

Gene Model

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

AlphaFold

P10833

Predicted Effect

probably benign
Transcript: ENSMUST00000044111
AA Change: I137M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042150
Gene: ENSMUSG00000038387
AA Change: I137M

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,596,128 (GRCm39)	M120L	unknown	Het
Aadacl4fm5	T	A	4: 144,503,985 (GRCm39)	I389L	possibly damaging	Het
Adamts13	T	A	2: 26,881,346 (GRCm39)	C774*	probably null	Het
Amh	A	G	10: 80,642,010 (GRCm39)		probably benign	Het
Armh4	T	C	14: 49,920,143 (GRCm39)	I729V	probably damaging	Het
Cd40	G	A	2: 164,912,661 (GRCm39)	R204Q	probably benign	Het
Cfap210	C	A	2: 69,619,785 (GRCm39)	R8L	probably damaging	Het
Clhc1	A	C	11: 29,511,366 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Flg2	A	T	3: 93,110,891 (GRCm39)	H973L	unknown	Het
Fut2	T	A	7: 45,300,698 (GRCm39)	I25F	probably damaging	Het
Galnt7	T	C	8: 58,005,464 (GRCm39)		probably benign	Het
Gmppb	A	T	9: 107,926,996 (GRCm39)	M56L	probably benign	Het
Grm3	C	A	5: 9,620,048 (GRCm39)	A399S	probably benign	Het
H2-T5	G	T	17: 36,478,949 (GRCm39)	P100Q	probably damaging	Het
Hey2	G	A	10: 30,716,485 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,433,186 (GRCm39)		probably benign	Het
Kcnh5	C	A	12: 75,184,447 (GRCm39)	C92F	probably benign	Het
Kdm1a	T	C	4: 136,282,609 (GRCm39)	D229G	probably damaging	Het
Klf11	C	G	12: 24,705,089 (GRCm39)	P164R	probably benign	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,409,147 (GRCm39)	V6A	probably benign	Het
Ltbr	A	C	6: 125,290,351 (GRCm39)		probably null	Het
Mmp17	T	G	5: 129,675,734 (GRCm39)	S298A	probably benign	Het
Nacc2	T	A	2: 25,979,602 (GRCm39)	E278V	possibly damaging	Het
Or5k8	A	T	16: 58,644,518 (GRCm39)	Y185N	probably damaging	Het
Or8b12b	T	A	9: 37,684,627 (GRCm39)	I224N	probably benign	Het
Otop2	C	T	11: 115,220,288 (GRCm39)	A376V	probably damaging	Het
Pdia2	T	C	17: 26,415,217 (GRCm39)	E504G	probably damaging	Het
Pdzph1	C	T	17: 59,229,722 (GRCm39)	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,820,374 (GRCm39)	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,546,488 (GRCm39)	F269L	probably benign	Het
Rb1	A	T	14: 73,449,152 (GRCm39)	C659*	probably null	Het
Rnf8	T	C	17: 29,840,613 (GRCm39)		probably null	Het
Slc38a9	A	T	13: 112,850,732 (GRCm39)	H372L	probably damaging	Het
Spata9	T	C	13: 76,125,898 (GRCm39)		probably null	Het
Tas2r115	T	C	6: 132,714,922 (GRCm39)	T10A	probably benign	Het
Ttn	T	C	2: 76,629,237 (GRCm39)	E12621G	probably damaging	Het
Unc80	A	T	1: 66,545,828 (GRCm39)	I460F	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,327,993 (GRCm39)	A293V	possibly damaging	Het
Zpld2	T	C	4: 133,929,829 (GRCm39)	T159A	possibly damaging	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
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
R4419:Rras	UTSW	7	44,670,003 (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'- TTGCCATTAACGACAGGCAGAGG -3'
(R):5'- TCAGGACAGGGGAACCAGTATCAAC -3'

Sequencing Primer
(F):5'- AGGTGAGGGGGATGCTG -3'
(R):5'- tggttagaatccctcagtgatg -3'

Posted On

2013-06-11