Mutagenetix > Incidental Mutation

Incidental Mutation 'R6087:Nras'

484597

Institutional Source

Beutler Lab

Gene Symbol

Nras

Ensembl Gene

ENSMUSG00000027852

Gene Name

neuroblastoma ras oncogene

Synonyms

N-ras

MMRRC Submission

044244-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R6087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102965643-102975230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102967637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 78 (F78L)

Ref Sequence

ENSEMBL: ENSMUSP00000142603 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029445
AA Change: F78L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029445
Gene: ENSMUSG00000027852
AA Change: F78L

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 damaging
Transcript: ENSMUST00000196355
AA Change: F78L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142438
Gene: ENSMUSG00000027852
AA Change: F78L

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 damaging
Transcript: ENSMUST00000197678
AA Change: F78L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142603
Gene: ENSMUSG00000027852
AA Change: F78L

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

probably damaging
Transcript: ENSMUST00000199049
AA Change: F78L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143644
Gene: ENSMUSG00000027852
AA Change: F78L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000200069
AA Change: F78L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143391
Gene: ENSMUSG00000027852
AA Change: F78L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199776

Predicted Effect

probably benign
Transcript: ENSMUST00000200457

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: ENSMUST00000199367

SMART Domains

Protein: ENSMUSP00000143620
Gene: ENSMUSG00000027852

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

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000198174

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.2%

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,119,621 (GRCm39)	K126R	possibly damaging	Het
Adam7	A	T	14: 68,748,206 (GRCm39)	C548S	probably damaging	Het
Adar	C	A	3: 89,652,897 (GRCm39)	H260N	probably benign	Het
Ak9	A	G	10: 41,258,828 (GRCm39)	E775G	probably benign	Het
Arhgap35	T	C	7: 16,297,568 (GRCm39)	Y499C	probably damaging	Het
Bank1	A	G	3: 135,772,190 (GRCm39)	L480P	probably damaging	Het
Cep135	G	T	5: 76,763,638 (GRCm39)		probably null	Het
Cnga1	G	T	5: 72,768,155 (GRCm39)	A177E	probably damaging	Het
Cubn	T	A	2: 13,432,658 (GRCm39)	D1221V	probably damaging	Het
Cyp2d40	T	C	15: 82,648,205 (GRCm39)	Y36C	possibly damaging	Het
Dock8	C	A	19: 25,138,438 (GRCm39)	N1254K	probably benign	Het
Elapor2	T	C	5: 9,449,255 (GRCm39)	S128P	probably damaging	Het
Fam13b	C	T	18: 34,620,192 (GRCm39)	V231I	possibly damaging	Het
Fbxo8	T	A	8: 57,022,353 (GRCm39)	Y122N	probably damaging	Het
Fmo2	T	A	1: 162,708,002 (GRCm39)	I378F	probably benign	Het
Golga3	A	T	5: 110,352,812 (GRCm39)	Q861L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ighv3-8	G	T	12: 114,286,000 (GRCm39)	A114E	probably damaging	Het
Itga3	C	T	11: 94,943,269 (GRCm39)		probably null	Het
Kank1	G	A	19: 25,387,088 (GRCm39)	V254I	probably benign	Het
Lipo5	A	T	19: 33,443,375 (GRCm39)	I147K	unknown	Het
Lrfn2	A	G	17: 49,378,154 (GRCm39)	S412G	probably benign	Het
Lrrn3	T	C	12: 41,503,534 (GRCm39)	N261S	possibly damaging	Het
Mical2	C	T	7: 111,917,692 (GRCm39)	Q350*	probably null	Het
Nudt9	A	G	5: 104,198,679 (GRCm39)	I65V	probably benign	Het
Or10ag59	A	G	2: 87,406,259 (GRCm39)	D277G	probably benign	Het
Or4f17-ps1	A	T	2: 111,358,526 (GRCm39)	E289V	possibly damaging	Het
Oscar	G	A	7: 3,614,311 (GRCm39)	P143S	probably benign	Het
Pla2g4d	C	T	2: 120,100,487 (GRCm39)	G615D	probably damaging	Het
Plekha1	T	G	7: 130,502,301 (GRCm39)	S175A	probably benign	Het
Psg27	T	C	7: 18,290,869 (GRCm39)	K445E	probably benign	Het
Rad51c	A	G	11: 87,271,705 (GRCm39)	Y318H	probably benign	Het
Ret	G	T	6: 118,153,252 (GRCm39)	T472K	possibly damaging	Het
Tarbp1	T	C	8: 127,155,709 (GRCm39)	D1343G	probably benign	Het
Top2b	C	A	14: 16,409,864 (GRCm38)	R844S	probably benign	Het
Vmn1r171	T	A	7: 23,332,429 (GRCm39)	M218K	probably damaging	Het
Vmn2r89	A	T	14: 51,695,033 (GRCm39)		probably null	Het
Zc3h13	T	A	14: 75,568,149 (GRCm39)	D1147E	probably damaging	Het
Zgrf1	T	A	3: 127,409,135 (GRCm39)	L1703H	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
R3977:Nras	UTSW	3	102,967,541 (GRCm39)	missense	probably benign	0.10
R3979:Nras	UTSW	3	102,967,541 (GRCm39)	missense	probably benign	0.10
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'- AAGATTGAGCCTGTCCTTGTC -3'
(R):5'- GGCACATATCTGCTGTTGCAC -3'

Sequencing Primer
(F):5'- TGCTGGACATACTGGACA -3'
(R):5'- TGTTCTGGCCTCCACAAAAC -3'

Posted On

2017-08-16