Mutagenetix > Incidental Mutation

Incidental Mutation 'R6570:Erbb2'

526214

Institutional Source

Beutler Lab

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

MMRRC Submission

044694-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6570 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98303310-98328542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98313873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 272 (L272P)

Ref Sequence

ENSEMBL: ENSMUSP00000053897 (fasta)

Gene Model

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

AlphaFold

P70424

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058295
AA Change: L272P

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: L272P

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: ENSMUST00000138066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158598

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdh15	T	C	8: 123,584,130 (GRCm39)	V77A	probably damaging	Het
Cfap54	C	T	10: 92,651,820 (GRCm39)	V3077I	unknown	Het
Exd1	T	C	2: 119,350,654 (GRCm39)	T536A	probably benign	Het
Hoxc9	A	T	15: 102,890,185 (GRCm39)	H34L	probably benign	Het
Kif19a	G	T	11: 114,675,731 (GRCm39)	R401L	possibly damaging	Het
Mad2l1bp	A	T	17: 46,463,933 (GRCm39)	H30Q	probably benign	Het
Mettl13	A	G	1: 162,371,855 (GRCm39)	L26P	probably damaging	Het
Mmp16	G	A	4: 18,011,501 (GRCm39)	V110I	possibly damaging	Het
Or2m13	T	C	16: 19,226,068 (GRCm39)	S233G	probably benign	Het
Plcb4	C	T	2: 135,824,906 (GRCm39)	A863V	probably benign	Het
Rnf168	G	A	16: 32,108,028 (GRCm39)	S219N	probably benign	Het
Serpine3	T	A	14: 62,911,770 (GRCm39)	L244Q	probably damaging	Het
Vmn1r75	T	C	7: 11,614,883 (GRCm39)	V205A	probably damaging	Het
Zscan4d	A	G	7: 10,895,927 (GRCm39)	V481A	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
IGL01460:Erbb2	APN	11	98,325,365 (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
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

Predicted Primers

PCR Primer
(F):5'- CAAGCATTCTGACTGCCTGG -3'
(R):5'- TTGAGAGTCATGACCAGCCCTC -3'

Sequencing Primer
(F):5'- ACTGCCTGGTATGTGTCTCGC -3'
(R):5'- GGGGCACACGATACTCACAG -3'

Posted On

2018-06-22