Mutagenetix > Incidental Mutation

Incidental Mutation 'R3977:Nras'

311061

Institutional Source

Beutler Lab

Gene Symbol

Nras

Ensembl Gene

ENSMUSG00000027852

Gene Name

neuroblastoma ras oncogene

Synonyms

N-ras

MMRRC Submission

040940-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R3977 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102965643-102975230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102967541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 46 (I46V)

Ref Sequence

ENSEMBL: ENSMUSP00000143391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029445] [ENSMUST00000029446] [ENSMUST00000128264] [ENSMUST00000196355] [ENSMUST00000197488] [ENSMUST00000197678] [ENSMUST00000197827] [ENSMUST00000199049] [ENSMUST00000199367] [ENSMUST00000200069] [ENSMUST00000199240] [ENSMUST00000199420] [ENSMUST00000200457] [ENSMUST00000198180] [ENSMUST00000199571]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029445
AA Change: I46V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029445
Gene: ENSMUSG00000027852
AA Change: I46V

Domain	Start	End	E-Value	Type
RAS	1	166	1.09e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000029446

SMART Domains

Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	187	248	1.52e-19	SMART
CSP	350	413	6.22e-16	SMART
CSP	520	582	2.86e-15	SMART
CSP	675	738	2.2e-16	SMART
Pfam:SUZ-C	757	788	3.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128264

Predicted Effect

probably benign
Transcript: ENSMUST00000196355
AA Change: I46V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142438
Gene: ENSMUSG00000027852
AA Change: I46V

Domain	Start	End	E-Value	Type
RAS	1	166	1.09e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197488

SMART Domains

Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	726	757	1.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197678
AA Change: I46V

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

SMART Domains

Protein: ENSMUSP00000142603
Gene: ENSMUSG00000027852
AA Change: I46V

Domain	Start	End	E-Value	Type
RAS	1	150	4.08e-102	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197827

SMART Domains

Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	187	248	1.52e-19	SMART
CSP	350	413	6.22e-16	SMART
CSP	520	582	2.86e-15	SMART
CSP	675	738	2.2e-16	SMART
Pfam:SUZ-C	757	788	3.3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199776

Predicted Effect

probably benign
Transcript: ENSMUST00000199049
AA Change: I46V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143644
Gene: ENSMUSG00000027852
AA Change: I46V

Domain	Start	End	E-Value	Type
RAS	1	166	5.3e-123	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199367
AA Change: I46V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000143620
Gene: ENSMUSG00000027852
AA Change: I46V

Domain	Start	End	E-Value	Type
small_GTPase	1	74	1.2e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200069
AA Change: I46V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143391
Gene: ENSMUSG00000027852
AA Change: I46V

Domain	Start	End	E-Value	Type
RAS	1	166	1.09e-120	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197844

Predicted Effect

probably benign
Transcript: ENSMUST00000199240

SMART Domains

Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	57	118	9e-22	SMART
CSP	220	283	3.8e-18	SMART
CSP	390	452	1.7e-17	SMART
CSP	545	608	1.4e-18	SMART
Pfam:SUZ-C	626	659	6.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199420

SMART Domains

Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	725	758	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200457

Predicted Effect

probably benign
Transcript: ENSMUST00000198174

Predicted Effect

probably benign
Transcript: ENSMUST00000198180

SMART Domains

Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	725	758	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199571

SMART Domains

Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823

Domain	Start	End	E-Value	Type
CSP	27	90	3.11e-16	SMART
CSP	156	217	1.52e-19	SMART
CSP	319	382	6.22e-16	SMART
CSP	489	551	2.86e-15	SMART
CSP	644	707	2.2e-16	SMART
Pfam:SUZ-C	725	758	5.4e-16	PFAM

Meta Mutation Damage Score

0.0694

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (50/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile with no gross morphological or histological abnormalities, or defects in peripheral blood cell populations. Mice homozygous for an LTR insertion in intron 1 exhibit weight loss immune defectsand postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,872,664 (GRCm39)	P942L	possibly damaging	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Bicral	T	A	17: 47,141,917 (GRCm39)	M1L	unknown	Het
Brpf3	A	G	17: 29,026,016 (GRCm39)	E363G	possibly damaging	Het
Ccdc96	T	C	5: 36,642,510 (GRCm39)	L172P	possibly damaging	Het
Cln3	G	A	7: 126,179,308 (GRCm39)		probably benign	Het
Dnah7c	T	C	1: 46,668,071 (GRCm39)	I1526T	possibly damaging	Het
Entr1	T	A	2: 26,274,805 (GRCm39)	N364I	probably damaging	Het
Fmo3	T	G	1: 162,786,147 (GRCm39)	E281A	probably damaging	Het
Frem2	A	G	3: 53,559,491 (GRCm39)	I1672T	probably benign	Het
Gbp2b	A	G	3: 142,309,470 (GRCm39)	I194V	probably benign	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
Hk1	A	G	10: 62,126,098 (GRCm39)	V396A	probably benign	Het
Hoxc13	T	C	15: 102,829,675 (GRCm39)	V18A	possibly damaging	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Il19	A	T	1: 130,863,770 (GRCm39)	C74S	probably damaging	Het
Krt1c	T	C	15: 101,719,562 (GRCm39)	T703A	unknown	Het
Lrig2	A	T	3: 104,365,160 (GRCm39)	V664E	probably damaging	Het
Lrrc37a	T	C	11: 103,348,430 (GRCm39)	K2755R	unknown	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mbtd1	A	G	11: 93,796,001 (GRCm39)	N13D	probably benign	Het
Mfsd4b5	T	C	10: 39,850,704 (GRCm39)		probably benign	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Ogfod2	C	A	5: 124,251,272 (GRCm39)		probably null	Het
Or10q3	C	A	19: 11,847,869 (GRCm39)	R237L	possibly damaging	Het
Or10v1	T	A	19: 11,873,880 (GRCm39)	F165Y	probably damaging	Het
Or11a4	T	C	17: 37,536,049 (GRCm39)	V11A	probably benign	Het
Or2w1b	T	A	13: 21,300,031 (GRCm39)	H56Q	probably benign	Het
Or4c3	C	A	2: 89,852,089 (GRCm39)	G107V	probably damaging	Het
Or6c5	C	T	10: 129,074,377 (GRCm39)	R120C	probably damaging	Het
Pkmyt1	A	G	17: 23,954,305 (GRCm39)	M362V	probably benign	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Ppp1r12b	A	G	1: 134,693,713 (GRCm39)	S983P	probably benign	Het
Ptpn22	A	G	3: 103,780,957 (GRCm39)		probably benign	Het
Raph1	A	T	1: 60,537,682 (GRCm39)	D491E	probably benign	Het
Rc3h1	A	G	1: 160,786,969 (GRCm39)		probably null	Het
Rtn4	T	C	11: 29,643,819 (GRCm39)	L5P	probably benign	Het
Slc23a4	C	T	6: 34,930,723 (GRCm39)	V400I	probably benign	Het
Slco1a5	A	G	6: 142,204,698 (GRCm39)		probably benign	Het
Smpd1	T	C	7: 105,205,108 (GRCm39)	F329S	probably benign	Het
Sycp2l	A	G	13: 41,295,440 (GRCm39)	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Ten1	G	A	11: 116,107,771 (GRCm39)		probably null	Het
Tfap2d	C	G	1: 19,174,718 (GRCm39)	S57C	possibly damaging	Het
Tnr	A	G	1: 159,719,593 (GRCm39)	M957V	probably benign	Het
Trbv13-3	A	G	6: 41,107,079 (GRCm39)		probably benign	Het
Trp53rkb	C	T	2: 166,637,446 (GRCm39)	A134V	possibly damaging	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r74	T	C	7: 85,607,345 (GRCm39)	Y126C	probably benign	Het
Vmn2r96	T	A	17: 18,817,941 (GRCm39)	I698N	probably damaging	Het

Other mutations in Nras

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Nras	APN	3	102,966,232 (GRCm39)	utr 5 prime	probably benign
IGL01443:Nras	APN	3	102,969,751 (GRCm39)	missense	probably benign	0.21
IGL03327:Nras	APN	3	102,966,340 (GRCm39)	missense	probably damaging	1.00
R0697:Nras	UTSW	3	102,967,616 (GRCm39)	missense	possibly damaging	0.89
R1688:Nras	UTSW	3	102,967,689 (GRCm39)	missense	probably benign
R1753:Nras	UTSW	3	102,966,295 (GRCm39)	missense	probably damaging	1.00
R2296:Nras	UTSW	3	102,966,350 (GRCm39)	critical splice donor site	probably null
R3979:Nras	UTSW	3	102,967,541 (GRCm39)	missense	probably benign	0.10
R6087:Nras	UTSW	3	102,967,637 (GRCm39)	missense	probably damaging	1.00
R6194:Nras	UTSW	3	102,966,269 (GRCm39)	missense	probably damaging	1.00
R8469:Nras	UTSW	3	102,966,217 (GRCm39)	splice site	probably benign
R8776:Nras	UTSW	3	102,966,176 (GRCm39)	intron	probably benign
R9112:Nras	UTSW	3	102,967,658 (GRCm39)	missense	probably benign	0.31
R9447:Nras	UTSW	3	102,967,673 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AACCTCATAACTCAGGCTGGTTTTG -3'
(R):5'- AGAAAATATCCCCAGTACCTGTAGAG -3'

Sequencing Primer
(F):5'- TTGAAACAGGGTCTCACTGC -3'
(R):5'- CCTGTAGAGGTTAATATCTGCAAATG -3'

Posted On

2015-04-29