Mutagenetix > Incidental Mutations

Incidental Mutation 'R1467:Erbb2'

164601

Institutional Source

Beutler Lab

Gene Symbol

Erbb2

Ensembl Gene

ENSMUSG00000062312

Gene Name

erb-b2 receptor tyrosine kinase 2

Synonyms

c-erbB2, c-neu, HER-2, HER2, Neu, ErbB-2, Neu oncogene

MMRRC Submission

039520-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1467 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98412470-98437716 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 98436175 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1137 (Q1137*)

Ref Sequence

ENSEMBL: ENSMUSP00000053897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002655] [ENSMUST00000058295]

Predicted Effect

probably benign
Transcript: ENSMUST00000002655

SMART Domains

Protein: ENSMUSP00000002655
Gene: ENSMUSG00000002580

Domain	Start	End	E-Value	Type
Pfam:Rdx	23	96	1.6e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000058295
AA Change: Q1137*

SMART Domains

Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: Q1137*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Recep_L_domain	52	174	2e-32	PFAM
FU	190	231	1.88e1	SMART
FU	233	276	1.03e-6	SMART
Pfam:Recep_L_domain	367	487	2.3e-23	PFAM
FU	502	551	3.08e-5	SMART
FU	558	607	3.97e-8	SMART
transmembrane domain	654	676	N/A	INTRINSIC
TyrKc	721	977	1.28e-126	SMART
low complexity region	1040	1080	N/A	INTRINSIC
low complexity region	1148	1163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154452

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.1%
10x: 88.5%
20x: 62.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit degeneration of motor nerves, an absence of Schwann cells, impairment of junctional folds at the neuromuscular synapse, and cardiac defects that results in lethality by embryonic day 10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	A	9: 124,295,463	V9L	possibly damaging	Het
4932438A13Rik	T	A	3: 37,035,945	V676D	probably damaging	Het
A630010A05Rik	C	A	16: 14,618,583	L167I	possibly damaging	Het
Abca14	A	T	7: 120,216,182	M218L	possibly damaging	Het
Abca15	C	A	7: 120,340,538		probably null	Het
Acod1	T	C	14: 103,054,567	F176L	probably benign	Het
Actr5	A	G	2: 158,638,697	H545R	probably benign	Het
Adcy1	A	G	11: 7,138,396	T472A	probably damaging	Het
AI314180	A	G	4: 58,832,753	V869A	probably benign	Het
Aldh1l1	A	G	6: 90,571,928	K469R	possibly damaging	Het
Ambra1	A	T	2: 91,885,703	Q853L	probably damaging	Het
Apol7e	G	T	15: 77,717,766	G188V	probably damaging	Het
AU018091	A	T	7: 3,164,259	W43R	probably benign	Het
Baat	A	G	4: 49,503,101	V7A	probably benign	Het
Bcas1	C	A	2: 170,387,932	Q249H	possibly damaging	Het
Bptf	G	T	11: 107,055,055	Q2453K	possibly damaging	Het
Btg3	A	G	16: 78,364,800		probably null	Het
Cacna2d3	T	C	14: 29,333,779	N298S	possibly damaging	Het
Carf	G	A	1: 60,127,993	V127I	possibly damaging	Het
Catsperg1	T	C	7: 29,185,008	S916G	probably damaging	Het
Cers1	T	C	8: 70,323,169	S274P	possibly damaging	Het
Ces4a	T	A	8: 105,138,035	V48E	possibly damaging	Het
Cfap54	T	A	10: 92,969,763	H1495L	probably benign	Het
Cntnap5a	T	A	1: 115,685,168	L11*	probably null	Het
Cr2	C	T	1: 195,157,509	G913R	probably damaging	Het
Cul9	A	G	17: 46,525,373	L1155P	probably damaging	Het
Dlec1	A	T	9: 119,142,578	D1278V	probably damaging	Het
Dmrt2	A	G	19: 25,673,606	E52G	possibly damaging	Het
Dsp	A	G	13: 38,192,712	K1491R	probably benign	Het
Eef1d	A	T	15: 75,895,921	D206E	probably damaging	Het
Ercc2	T	A	7: 19,385,886	D157E	probably benign	Het
Eri1	A	G	8: 35,469,130	*346Q	probably null	Het
Espl1	A	G	15: 102,319,858	E1689G	probably benign	Het
Fam35a	G	T	14: 34,268,662	H96N	possibly damaging	Het
Fap	C	T	2: 62,517,620	V539I	probably benign	Het
Fasn	A	G	11: 120,811,040	F1871S	probably benign	Het
Gabpb1	T	G	2: 126,652,327	Y126S	probably damaging	Het
Gm8879	C	T	5: 11,130,370	H82Y	probably damaging	Het
Grm1	T	C	10: 10,719,958	Y642C	probably damaging	Het
Heatr4	T	C	12: 83,978,067	T327A	possibly damaging	Het
Hmbox1	T	C	14: 64,861,578	D212G	possibly damaging	Het
Hmcn1	T	A	1: 150,689,590	D2262V	probably damaging	Het
Hoxb9	A	G	11: 96,271,938	T133A	probably benign	Het
Insr	A	T	8: 3,169,720	V934E	probably damaging	Het
Ipo9	T	C	1: 135,406,543	E315G	possibly damaging	Het
Itga10	C	T	3: 96,652,229	Q481*	probably null	Het
Kntc1	T	A	5: 123,786,984	M1120K	probably benign	Het
Krt78	A	G	15: 101,946,293	Y1028H	possibly damaging	Het
Lrrc38	A	T	4: 143,369,880	I254F	probably damaging	Het
Lyrm7	A	G	11: 54,850,389	F40L	probably damaging	Het
Mfsd4b1	C	T	10: 40,002,635	S422N	possibly damaging	Het
Mlh3	A	T	12: 85,237,600	L1380*	probably null	Het
Mrpl24	C	A	3: 87,922,437	A110D	probably benign	Het
Mrps14	T	C	1: 160,196,950	V17A	probably benign	Het
Mtcl1	T	C	17: 66,448,327	D340G	probably damaging	Het
Neb	T	C	2: 52,230,047	Y3900C	probably damaging	Het
Neurod4	T	C	10: 130,270,604	D267G	probably benign	Het
Nf1	A	T	11: 79,428,626	I536F	possibly damaging	Het
Nkg7	C	T	7: 43,437,433	P44S	probably damaging	Het
Olfr1200	T	C	2: 88,767,488	I276V	probably benign	Het
Olfr293	T	C	7: 86,663,977	V105A	possibly damaging	Het
Pcif1	T	C	2: 164,889,138	Y404H	probably benign	Het
Pcnx2	A	T	8: 125,753,550	L2006Q	possibly damaging	Het
Pcnx3	A	T	19: 5,674,894	S821T	possibly damaging	Het
Pde8b	T	A	13: 95,034,172	D662V	probably damaging	Het
Pkd1l3	C	T	8: 109,616,368	P113S	unknown	Het
Pkd2l1	G	T	19: 44,154,209	Q465K	possibly damaging	Het
Plch2	G	T	4: 154,983,732	P1479Q	probably benign	Het
Plekhm3	A	T	1: 64,892,882	I521N	probably damaging	Het
Pola2	A	T	19: 5,942,065	Y526*	probably null	Het
Prss23	T	C	7: 89,510,009	D284G	probably damaging	Het
Psme2b	A	G	11: 48,945,640	F160S	probably damaging	Het
Rap1gap2	A	G	11: 74,437,027	V139A	possibly damaging	Het
Rbbp9	G	T	2: 144,543,857	R163S	possibly damaging	Het
Rdh12	T	C	12: 79,213,748	L206P	probably damaging	Het
Rhou	T	C	8: 123,661,290	W254R	possibly damaging	Het
Scfd1	A	G	12: 51,431,498	K498E	possibly damaging	Het
Scn7a	A	G	2: 66,689,558	Y1001H	probably benign	Het
Setx	T	A	2: 29,158,905	V1981E	probably damaging	Het
Sfxn1	T	C	13: 54,093,871	I205T	possibly damaging	Het
Spock1	G	A	13: 57,429,369	R416C	possibly damaging	Het
Spred2	A	G	11: 20,018,109	I222V	probably benign	Het
Stkld1	A	T	2: 26,949,395	T358S	probably benign	Het
Strip1	T	C	3: 107,627,408	E102G	possibly damaging	Het
Tarsl2	T	C	7: 65,655,696	S223P	probably damaging	Het
Tdpoz1	T	A	3: 93,671,330	E49V	probably benign	Het
Tert	A	G	13: 73,628,209	T360A	probably benign	Het
Tspear	A	G	10: 77,881,192	Y567C	probably damaging	Het
Ttc28	A	G	5: 111,285,388	Q2096R	probably benign	Het
Ugt2b38	T	G	5: 87,412,373	N361H	probably damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn2r111	T	A	17: 22,571,047	H326L	probably damaging	Het
Vmn2r18	A	G	5: 151,586,836	F24S	possibly damaging	Het
Vmn2r82	A	T	10: 79,396,299	I711F	probably benign	Het
Vwa8	C	T	14: 79,103,694	Q1537*	probably null	Het
Wdr64	G	A	1: 175,775,722	V630I	probably benign	Het
Wnt6	G	T	1: 74,782,275	W84L	probably damaging	Het
Zfp11	C	A	5: 129,658,190	R69L	probably benign	Het

Other mutations in Erbb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Erbb2	APN	11	98435630	missense	probably damaging	1.00
IGL01460:Erbb2	APN	11	98434539	missense	probably damaging	1.00
IGL01483:Erbb2	APN	11	98434539	missense	probably damaging	1.00
IGL01514:Erbb2	APN	11	98432919	missense	possibly damaging	0.94
IGL01520:Erbb2	APN	11	98434009	missense	probably benign	0.05
IGL03007:Erbb2	APN	11	98428993	splice site	probably benign
IGL03367:Erbb2	APN	11	98422875	splice site	probably null
Angular	UTSW	11	98422770	missense	probably damaging	0.98
PIT4544001:Erbb2	UTSW	11	98421039	missense	probably benign
R0234:Erbb2	UTSW	11	98436439	missense	probably benign	0.33
R0234:Erbb2	UTSW	11	98436439	missense	probably benign	0.33
R0388:Erbb2	UTSW	11	98427351	missense	possibly damaging	0.66
R0602:Erbb2	UTSW	11	98434271	missense	probably damaging	1.00
R1467:Erbb2	UTSW	11	98436175	nonsense	probably null
R1500:Erbb2	UTSW	11	98428978	missense	probably damaging	1.00
R1651:Erbb2	UTSW	11	98433457	missense	probably damaging	1.00
R1748:Erbb2	UTSW	11	98435335	missense	probably benign	0.06
R1807:Erbb2	UTSW	11	98428854	missense	probably damaging	1.00
R1861:Erbb2	UTSW	11	98412737	critical splice donor site	probably null
R1926:Erbb2	UTSW	11	98425164	missense	probably benign
R1998:Erbb2	UTSW	11	98428953	missense	probably damaging	1.00
R2051:Erbb2	UTSW	11	98420172	missense	probably damaging	1.00
R3147:Erbb2	UTSW	11	98434039	missense	probably damaging	1.00
R4022:Erbb2	UTSW	11	98435297	missense	probably benign	0.09
R4238:Erbb2	UTSW	11	98428043	missense	probably benign	0.01
R4239:Erbb2	UTSW	11	98428043	missense	probably benign	0.01
R4240:Erbb2	UTSW	11	98428043	missense	probably benign	0.01
R4633:Erbb2	UTSW	11	98432988	missense	possibly damaging	0.91
R4725:Erbb2	UTSW	11	98425144	missense	possibly damaging	0.71
R5093:Erbb2	UTSW	11	98427453	missense	probably damaging	1.00
R5306:Erbb2	UTSW	11	98428206	missense	probably benign	0.44
R5375:Erbb2	UTSW	11	98433412	missense	probably damaging	1.00
R5518:Erbb2	UTSW	11	98422770	missense	probably damaging	0.98
R5710:Erbb2	UTSW	11	98427080	missense	probably damaging	1.00
R5938:Erbb2	UTSW	11	98435571	missense	probably damaging	0.99
R6062:Erbb2	UTSW	11	98433249	missense	probably damaging	1.00
R6116:Erbb2	UTSW	11	98427399	missense	probably damaging	1.00
R6514:Erbb2	UTSW	11	98420146	missense	probably benign	0.03
R6556:Erbb2	UTSW	11	98436082	missense	possibly damaging	0.92
R6570:Erbb2	UTSW	11	98423047	missense	possibly damaging	0.88
R6578:Erbb2	UTSW	11	98428188	missense	probably damaging	1.00
R7141:Erbb2	UTSW	11	98427309	missense	probably damaging	1.00
R7686:Erbb2	UTSW	11	98435573	missense	probably benign
R8274:Erbb2	UTSW	11	98433896	missense	probably damaging	1.00
R8439:Erbb2	UTSW	11	98428972	missense	possibly damaging	0.89
X0028:Erbb2	UTSW	11	98434301	missense	probably damaging	1.00
X0062:Erbb2	UTSW	11	98423120	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTCGCAGACTTTTGAGTAGCTCCC -3'
(R):5'- TGACCTCATACTGGCACATCCAGG -3'

Sequencing Primer
(F):5'- TGAGTAGCTCCCATCATGACC -3'
(R):5'- CCATTTTTCCCAGGAGAGAGAGTC -3'

Posted On

2014-03-28