Mutagenetix > Incidental Mutation

Incidental Mutation 'R1500:Erbb2'

169200

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

039551-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1500 (G1)

Quality Score

127

Status

Validated

Chromosome

Chromosomal Location

98303310-98328542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98319804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 632 (T632I)

Ref Sequence

ENSEMBL: ENSMUSP00000053897 (fasta)

Gene Model

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

AlphaFold

P70424

Predicted Effect

probably damaging
Transcript: ENSMUST00000058295
AA Change: T632I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: T632I

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

Meta Mutation Damage Score

0.1477

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

95% (81/85)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	A	G	17: 31,330,253 (GRCm39)	D518G	probably benign	Het
Acaca	T	A	11: 84,184,810 (GRCm39)	D96E	probably benign	Het
Actbl2	G	A	13: 111,391,854 (GRCm39)	R63Q	probably damaging	Het
Adamts6	T	A	13: 104,449,389 (GRCm39)	H266Q	probably damaging	Het
Aff4	T	C	11: 53,263,205 (GRCm39)	V75A	probably benign	Het
Ank2	A	G	3: 126,726,631 (GRCm39)	S888P	probably benign	Het
Ano7	T	C	1: 93,325,050 (GRCm39)	F534S	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Bcam	T	A	7: 19,492,889 (GRCm39)	D484V	possibly damaging	Het
Bltp2	C	A	11: 78,174,958 (GRCm39)	Q1698K	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,713 (GRCm39)	Y1240H	probably benign	Het
Cfh	T	C	1: 140,028,614 (GRCm39)	Y500C	probably damaging	Het
Chd1l	G	A	3: 97,490,121 (GRCm39)	A478V	probably benign	Het
Dnah1	T	C	14: 31,038,715 (GRCm39)	D122G	probably benign	Het
Dnah11	A	T	12: 117,976,564 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,991,879 (GRCm39)	K1230E	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
E330020D12Rik	A	T	1: 153,284,125 (GRCm39)		noncoding transcript	Het
Ece2	T	C	16: 20,462,992 (GRCm39)	L639P	probably damaging	Het
Epha3	A	T	16: 63,416,025 (GRCm39)	V658E	probably benign	Het
Erc2	A	G	14: 27,993,617 (GRCm39)	T883A	probably damaging	Het
Extl2	T	C	3: 115,820,789 (GRCm39)	V198A	probably benign	Het
Fktn	G	T	4: 53,735,065 (GRCm39)	M234I	probably benign	Het
Ggt7	A	G	2: 155,340,966 (GRCm39)	S400P	probably benign	Het
Gldc	A	C	19: 30,091,225 (GRCm39)	V790G	possibly damaging	Het
Gm14496	A	C	2: 181,633,026 (GRCm39)	Q3P	probably benign	Het
H2-D1	G	A	17: 35,482,564 (GRCm39)	E95K	probably benign	Het
Ikzf3	T	C	11: 98,409,521 (GRCm39)	E14G	probably benign	Het
Jag1	A	T	2: 136,957,558 (GRCm39)	N51K	possibly damaging	Het
Khdrbs3	A	G	15: 68,800,635 (GRCm39)	D14G	possibly damaging	Het
Krt84	A	G	15: 101,438,659 (GRCm39)	V276A	probably damaging	Het
Lamb1	T	C	12: 31,348,948 (GRCm39)	I660T	possibly damaging	Het
Lcmt2	A	T	2: 120,970,488 (GRCm39)	S198R	probably benign	Het
Lcn6	G	A	2: 25,567,131 (GRCm39)	R44H	probably benign	Het
Lrfn5	A	T	12: 61,886,527 (GRCm39)	H105L	probably damaging	Het
Lrit1	G	A	14: 36,784,091 (GRCm39)	R473K	probably benign	Het
Marchf1	A	G	8: 66,921,042 (GRCm39)	T495A	probably damaging	Het
Marveld3	T	G	8: 110,675,174 (GRCm39)		probably null	Het
Mbd3	T	C	10: 80,230,420 (GRCm39)	D160G	possibly damaging	Het
Mrc2	T	G	11: 105,238,551 (GRCm39)	C1233G	probably damaging	Het
Ms4a13	T	G	19: 11,161,225 (GRCm39)	T105P	probably damaging	Het
Mtbp	T	C	15: 55,480,951 (GRCm39)	Y306H	probably damaging	Het
Muc3a	T	C	5: 137,244,958 (GRCm39)		probably benign	Het
Myo1g	T	A	11: 6,470,811 (GRCm39)	Y15F	probably benign	Het
Nae1	A	T	8: 105,250,216 (GRCm39)	Y226N	probably benign	Het
Nlrp9a	A	G	7: 26,267,316 (GRCm39)	S715G	probably benign	Het
Or1j10	A	T	2: 36,267,633 (GRCm39)	M282L	probably benign	Het
Or2ag17	T	C	7: 106,390,028 (GRCm39)	Y60C	probably damaging	Het
Or4s2b	T	A	2: 88,508,219 (GRCm39)	S7T	possibly damaging	Het
Or7g26	A	T	9: 19,230,612 (GRCm39)	S267C	probably damaging	Het
Or8g55	G	T	9: 39,784,707 (GRCm39)	M45I	probably benign	Het
Pex5l	T	C	3: 33,069,129 (GRCm39)	T123A	probably damaging	Het
Pip5kl1	A	T	2: 32,466,691 (GRCm39)	N62I	probably benign	Het
Pkhd1l1	T	C	15: 44,408,890 (GRCm39)	V2459A	probably damaging	Het
Prb1a	T	A	6: 132,184,439 (GRCm39)	Q398L	unknown	Het
Prkab2	T	C	3: 97,571,263 (GRCm39)	L165S	probably damaging	Het
Prl3d2	C	G	13: 27,305,689 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,143,472 (GRCm39)	G435D	probably benign	Het
Qrfpr	A	G	3: 36,236,729 (GRCm39)	L224P	probably damaging	Het
Rasl2-9	C	T	7: 5,128,441 (GRCm39)	W163*	probably null	Het
Rgs5	A	G	1: 169,517,983 (GRCm39)		probably null	Het
Rnf19b	T	C	4: 128,972,754 (GRCm39)	L255P	probably damaging	Het
Rp9	A	C	9: 22,368,751 (GRCm39)	N69K	probably damaging	Het
Sh3bp4	G	T	1: 89,073,210 (GRCm39)	S686I	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Spp2	C	A	1: 88,340,015 (GRCm39)	Q5K	possibly damaging	Het
Svep1	C	T	4: 58,070,239 (GRCm39)	G2516R	probably damaging	Het
Syncrip	A	C	9: 88,361,949 (GRCm39)	S55R	probably damaging	Het
Tacc3	T	C	5: 33,818,652 (GRCm39)	L29P	probably damaging	Het
Tex15	A	G	8: 34,065,120 (GRCm39)	T1517A	probably damaging	Het
Tmem140	A	G	6: 34,849,660 (GRCm39)	M59V	probably benign	Het
Ttn	G	T	2: 76,575,872 (GRCm39)	A25007E	probably damaging	Het
Ubr2	T	C	17: 47,297,615 (GRCm39)	T253A	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Usp38	A	G	8: 81,722,399 (GRCm39)	L374P	probably damaging	Het
Vmn1r42	T	A	6: 89,822,483 (GRCm39)	I29L	probably benign	Het
Vmn2r94	C	T	17: 18,477,242 (GRCm39)	V390M	probably benign	Het
Vmp1	A	G	11: 86,552,026 (GRCm39)	Y113H	possibly damaging	Het
Wdr20	T	C	12: 110,760,464 (GRCm39)	M450T	probably benign	Het
Ylpm1	T	C	12: 85,061,770 (GRCm39)	V557A	unknown	Het
Zpld1	T	C	16: 55,053,935 (GRCm39)	N286D	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CCAGGAGGCTGACCAGTGTGA -3'
(R):5'- CCAGCACTAGGGACTTGGGGA -3'

Sequencing Primer
(F):5'- TGAGGCTTGTGCCCACTAC -3'
(R):5'- tcctcttaactacacaaccacc -3'

Posted On

2014-04-13