Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01460:Erbb2'

278494

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erbb2

Ensembl Gene

ENSMUSG00000062312

Gene Name

erb-b2 receptor tyrosine kinase 2

Synonyms

c-neu, ErbB-2, c-erbB2, HER-2, l11Jus8, Neu, Neu oncogene, HER2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01460

Quality Score

Status

Chromosome

Chromosomal Location

98303310-98328542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98325365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 898 (R898C)

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: R898C

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

SMART Domains

Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: R898C

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

Coding Region Coverage

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,397,594 (GRCm39)	V2608A	probably benign	Het
Cntrl	A	G	2: 35,055,856 (GRCm39)	K1250R	probably benign	Het
Ctsm	T	C	13: 61,686,850 (GRCm39)	Q14R	probably damaging	Het
Dnah7b	A	G	1: 46,178,864 (GRCm39)	N846D	possibly damaging	Het
Itgb3	C	T	11: 104,553,220 (GRCm39)	Q693*	probably null	Het
Kcnk18	G	A	19: 59,208,289 (GRCm39)	V42M	probably damaging	Het
Kng1	A	G	16: 22,897,944 (GRCm39)	H448R	probably benign	Het
Mtf2	C	T	5: 108,228,809 (GRCm39)	P42S	probably damaging	Het
Myo10	A	T	15: 25,714,194 (GRCm39)	E120V	probably benign	Het
Or12k5	A	C	2: 36,894,648 (GRCm39)	M326R	probably benign	Het
Or9a2	A	C	6: 41,749,216 (GRCm39)	S6A	probably benign	Het
Peli1	C	T	11: 21,096,966 (GRCm39)	P119S	probably benign	Het
Pelp1	A	G	11: 70,284,790 (GRCm39)	V1026A	unknown	Het
Pi4ka	A	G	16: 17,175,515 (GRCm39)	F438L	probably damaging	Het
Postn	A	G	3: 54,282,579 (GRCm39)		probably benign	Het
Taf1b	T	C	12: 24,608,245 (GRCm39)	L548P	possibly damaging	Het
Tbc1d7	C	T	13: 43,318,835 (GRCm39)	A101T	probably benign	Het
Vcp	C	A	4: 42,996,040 (GRCm39)	R53L	possibly damaging	Het

Other mutations in Erbb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Erbb2	APN	11	98,326,456 (GRCm39)	missense	probably damaging	1.00
IGL01483:Erbb2	APN	11	98,325,365 (GRCm39)	missense	probably damaging	1.00
IGL01514:Erbb2	APN	11	98,323,745 (GRCm39)	missense	possibly damaging	0.94
IGL01520:Erbb2	APN	11	98,324,835 (GRCm39)	missense	probably benign	0.05
IGL03007:Erbb2	APN	11	98,319,819 (GRCm39)	splice site	probably benign
IGL03367:Erbb2	APN	11	98,313,701 (GRCm39)	splice site	probably null
Angular	UTSW	11	98,313,596 (GRCm39)	missense	probably damaging	0.98
PIT4544001:Erbb2	UTSW	11	98,311,865 (GRCm39)	missense	probably benign
R0234:Erbb2	UTSW	11	98,327,265 (GRCm39)	missense	probably benign	0.33
R0234:Erbb2	UTSW	11	98,327,265 (GRCm39)	missense	probably benign	0.33
R0388:Erbb2	UTSW	11	98,318,177 (GRCm39)	missense	possibly damaging	0.66
R0602:Erbb2	UTSW	11	98,325,097 (GRCm39)	missense	probably damaging	1.00
R1467:Erbb2	UTSW	11	98,327,001 (GRCm39)	nonsense	probably null
R1467:Erbb2	UTSW	11	98,327,001 (GRCm39)	nonsense	probably null
R1500:Erbb2	UTSW	11	98,319,804 (GRCm39)	missense	probably damaging	1.00
R1651:Erbb2	UTSW	11	98,324,283 (GRCm39)	missense	probably damaging	1.00
R1748:Erbb2	UTSW	11	98,326,161 (GRCm39)	missense	probably benign	0.06
R1807:Erbb2	UTSW	11	98,319,680 (GRCm39)	missense	probably damaging	1.00
R1861:Erbb2	UTSW	11	98,303,563 (GRCm39)	critical splice donor site	probably null
R1926:Erbb2	UTSW	11	98,315,990 (GRCm39)	missense	probably benign
R1998:Erbb2	UTSW	11	98,319,779 (GRCm39)	missense	probably damaging	1.00
R2051:Erbb2	UTSW	11	98,310,998 (GRCm39)	missense	probably damaging	1.00
R3147:Erbb2	UTSW	11	98,324,865 (GRCm39)	missense	probably damaging	1.00
R4022:Erbb2	UTSW	11	98,326,123 (GRCm39)	missense	probably benign	0.09
R4238:Erbb2	UTSW	11	98,318,869 (GRCm39)	missense	probably benign	0.01
R4239:Erbb2	UTSW	11	98,318,869 (GRCm39)	missense	probably benign	0.01
R4240:Erbb2	UTSW	11	98,318,869 (GRCm39)	missense	probably benign	0.01
R4633:Erbb2	UTSW	11	98,323,814 (GRCm39)	missense	possibly damaging	0.91
R4725:Erbb2	UTSW	11	98,315,970 (GRCm39)	missense	possibly damaging	0.71
R5093:Erbb2	UTSW	11	98,318,279 (GRCm39)	missense	probably damaging	1.00
R5306:Erbb2	UTSW	11	98,319,032 (GRCm39)	missense	probably benign	0.44
R5375:Erbb2	UTSW	11	98,324,238 (GRCm39)	missense	probably damaging	1.00
R5518:Erbb2	UTSW	11	98,313,596 (GRCm39)	missense	probably damaging	0.98
R5710:Erbb2	UTSW	11	98,317,906 (GRCm39)	missense	probably damaging	1.00
R5938:Erbb2	UTSW	11	98,326,397 (GRCm39)	missense	probably damaging	0.99
R6062:Erbb2	UTSW	11	98,324,075 (GRCm39)	missense	probably damaging	1.00
R6116:Erbb2	UTSW	11	98,318,225 (GRCm39)	missense	probably damaging	1.00
R6514:Erbb2	UTSW	11	98,310,972 (GRCm39)	missense	probably benign	0.03
R6556:Erbb2	UTSW	11	98,326,908 (GRCm39)	missense	possibly damaging	0.92
R6570:Erbb2	UTSW	11	98,313,873 (GRCm39)	missense	possibly damaging	0.88
R6578:Erbb2	UTSW	11	98,319,014 (GRCm39)	missense	probably damaging	1.00
R7141:Erbb2	UTSW	11	98,318,135 (GRCm39)	missense	probably damaging	1.00
R7686:Erbb2	UTSW	11	98,326,399 (GRCm39)	missense	probably benign
R8274:Erbb2	UTSW	11	98,324,722 (GRCm39)	missense	probably damaging	1.00
R8439:Erbb2	UTSW	11	98,319,798 (GRCm39)	missense	possibly damaging	0.89
R9142:Erbb2	UTSW	11	98,312,884 (GRCm39)	missense	probably damaging	1.00
R9287:Erbb2	UTSW	11	98,326,107 (GRCm39)	missense	probably damaging	0.98
R9489:Erbb2	UTSW	11	98,311,746 (GRCm39)	missense	possibly damaging	0.54
R9599:Erbb2	UTSW	11	98,318,216 (GRCm39)	missense	probably benign	0.04
R9605:Erbb2	UTSW	11	98,311,746 (GRCm39)	missense	possibly damaging	0.54
R9652:Erbb2	UTSW	11	98,326,812 (GRCm39)	missense	probably damaging	0.96
X0028:Erbb2	UTSW	11	98,325,127 (GRCm39)	missense	probably damaging	1.00
X0062:Erbb2	UTSW	11	98,313,946 (GRCm39)	nonsense	probably null

Posted On

2015-04-16