Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Erbb2'

735398

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98412470-98437716 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98435986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1074 (S1074P)

Ref Sequence

ENSEMBL: ENSMUSP00000053897 (fasta)

Gene Model

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

AlphaFold

P70424

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 damaging
Transcript: ENSMUST00000058295
AA Change: S1074P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: S1074P

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,743,361	T395M	probably damaging	Het
Akap8l	T	C	17: 32,338,809	N35D	probably damaging	Het
Atr	T	A	9: 95,874,834	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,254,497	F86L	probably damaging	Het
Bmp1	T	C	14: 70,477,920	D925G	probably damaging	Het
C77080	T	C	4: 129,224,169	E279G	possibly damaging	Het
Camkmt	A	T	17: 85,452,285	R284S	probably benign	Het
Cavin3	G	T	7: 105,482,097	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,735,330	H180R		Het
Cdh23	A	T	10: 60,331,356	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,085,625	A169S	probably damaging	Het
Chpt1	T	C	10: 88,489,637	N122S	probably benign	Het
Cramp1l	C	A	17: 24,982,809	K566N	probably damaging	Het
Ctbp2	C	G	7: 133,014,204	R334P	probably damaging	Het
Cwh43	T	C	5: 73,414,997	S193P	probably benign	Het
Dcstamp	A	T	15: 39,760,396	D469V	probably benign	Het
Dst	T	A	1: 34,180,377	I1966N	probably benign	Het
Eif3i	G	T	4: 129,595,301	F121L	probably benign	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fbn2	A	G	18: 58,013,650		probably null	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Gm2a	T	C	11: 55,108,938	V95A	probably benign	Het
Gp5	A	C	16: 30,309,575	F94V	probably damaging	Het
Gramd4	G	A	15: 86,131,959	E504K	probably damaging	Het
Gusb	A	G	5: 129,997,811	S450P	probably damaging	Het
Htr5a	A	G	5: 27,842,840	N131S	possibly damaging	Het
Itga2	G	A	13: 114,884,455	P120L	probably benign	Het
Itpkb	G	T	1: 180,332,491	E61*	probably null	Het
Katnbl1	T	A	2: 112,409,152	V232D	probably damaging	Het
Kifap3	T	C	1: 163,862,088	L547P	probably damaging	Het
Krt6a	C	T	15: 101,690,685	V482M	probably benign	Het
Lrfn5	T	A	12: 61,843,632	V569D	probably damaging	Het
Luzp2	A	G	7: 55,052,832	T48A	probably damaging	Het
Mical2	G	T	7: 112,346,789	R986L	probably damaging	Het
Mroh8	G	A	2: 157,253,050	Q339*	probably null	Het
Msln	A	T	17: 25,749,068	V541E	probably damaging	Het
Muc16	T	A	9: 18,586,882	M6590L	probably benign	Het
Nisch	A	T	14: 31,171,671	V1315E	probably damaging	Het
Nubp2	G	A	17: 24,884,408	T165I	probably damaging	Het
Olfr1089	A	T	2: 86,733,292	F107I	probably damaging	Het
Olfr13	A	G	6: 43,174,057	M24V	probably benign	Het
Olfr57	T	C	10: 79,035,396	I200T	probably benign	Het
Olfr682-ps1	A	T	7: 105,126,778	N164K	probably benign	Het
Olfr820	T	C	10: 130,017,940	I193T	possibly damaging	Het
Oog3	T	G	4: 144,157,919	R482S	probably benign	Het
P3h4	A	T	11: 100,413,673	C247*	probably null	Het
Palm2	G	A	4: 57,710,125	A357T	possibly damaging	Het
Plch2	T	A	4: 154,998,485	M569L	probably benign	Het
Plcl1	A	G	1: 55,696,291	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,927,563	N178K	probably benign	Het
Rasa4	T	C	5: 136,101,640	L340P	probably damaging	Het
Rassf10	A	G	7: 112,955,577	T462A	probably benign	Het
Rlf	G	C	4: 121,150,668	L482V	probably damaging	Het
Robo1	T	G	16: 73,024,442	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,032,265	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,728,354	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,804,702	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,441,495	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,249,185	Q765R	probably damaging	Het
Senp6	T	A	9: 80,113,946	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,846,528	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,883,532	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,648,632		probably null	Het
Snrnp200	G	T	2: 127,226,039	V819L	probably damaging	Het
Ssb	C	A	2: 69,870,440	A288E	probably damaging	Het
Syne2	A	G	12: 76,054,846	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,626,200	S43P	probably benign	Het
Tmem200c	A	G	17: 68,842,186	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,174	R657*	probably null	Het
Traf6	T	C	2: 101,688,582	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,884,556	N424K	possibly damaging	Het
Ubqln3	T	C	7: 104,142,755	I43V	probably damaging	Het
Usp32	A	G	11: 85,030,491	V699A	probably damaging	Het
Vmn2r103	T	C	17: 19,793,765	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,803,241	S113P	probably benign	Het
Wdr7	T	A	18: 63,727,755	I161N	probably damaging	Het
Zfp474	A	T	18: 52,638,943	I223F	probably damaging	Het
Zfp583	A	G	7: 6,317,329	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,177,417	T76A	possibly damaging	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
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
R9142:Erbb2	UTSW	11	98422058	missense	probably damaging	1.00
R9287:Erbb2	UTSW	11	98435281	missense	probably damaging	0.98
R9489:Erbb2	UTSW	11	98420920	missense	possibly damaging	0.54
R9599:Erbb2	UTSW	11	98427390	missense	probably benign	0.04
R9605:Erbb2	UTSW	11	98420920	missense	possibly damaging	0.54
X0028:Erbb2	UTSW	11	98434301	missense	probably damaging	1.00
X0062:Erbb2	UTSW	11	98423120	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TACCATGGCTGCTTTCCAAC -3'
(R):5'- TGGATTTCATACCGGGCTGG -3'

Sequencing Primer
(F):5'- ATGGCTGCTTTCCAACCCTTG -3'
(R):5'- CAGGCCAGGGGAGCAAC -3'

Posted On

2022-11-14