Mutagenetix > Incidental Mutation

Incidental Mutation 'R1861:Erbb2'

203943

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

039884-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1861 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98303310-98328542 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 98303563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053897 (fasta)

Gene Model

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

AlphaFold

P70424

Predicted Effect

probably null
Transcript: ENSMUST00000058295

SMART Domains

Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312

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

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (117/121)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	C	A	9: 89,034,884 (GRCm39)		noncoding transcript	Het
Abra	C	A	15: 41,732,430 (GRCm39)	R212L	probably damaging	Het
Actr1a	T	C	19: 46,372,714 (GRCm39)	E87G	probably damaging	Het
Adam26a	A	G	8: 44,022,578 (GRCm39)	V304A	possibly damaging	Het
Alg2	T	A	4: 47,471,670 (GRCm39)	K379N	probably benign	Het
Alk	G	T	17: 72,181,933 (GRCm39)		probably benign	Het
Aopep	A	G	13: 63,163,597 (GRCm39)	Y206C	probably damaging	Het
Arhgef17	A	G	7: 100,531,475 (GRCm39)	Y331H	probably damaging	Het
Art3	A	G	5: 92,560,094 (GRCm39)		probably benign	Het
Asap1	G	A	15: 64,007,647 (GRCm39)		probably benign	Het
Atad2	A	T	15: 57,960,114 (GRCm39)		probably null	Het
Atp8b5	G	A	4: 43,372,906 (GRCm39)	R1150H	probably damaging	Het
Bltp2	C	T	11: 78,178,755 (GRCm39)		probably benign	Het
Brdt	T	C	5: 107,507,324 (GRCm39)	S575P	probably benign	Het
Capn3	T	A	2: 120,316,963 (GRCm39)		probably benign	Het
Casd1	T	A	6: 4,640,951 (GRCm39)	Y691N	probably damaging	Het
Ccdc127	T	G	13: 74,505,098 (GRCm39)	H215Q	possibly damaging	Het
Cenpe	T	C	3: 134,974,740 (GRCm39)	L2300P	probably damaging	Het
Clasp1	T	C	1: 118,498,661 (GRCm39)	F898L	possibly damaging	Het
Clcn1	C	A	6: 42,290,925 (GRCm39)	P933Q	possibly damaging	Het
Cntn3	T	A	6: 102,222,032 (GRCm39)	N489I	probably benign	Het
Col16a1	T	C	4: 129,955,517 (GRCm39)		probably benign	Het
Col24a1	G	A	3: 145,243,022 (GRCm39)		probably null	Het
Col8a2	C	T	4: 126,205,417 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,675,208 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,522,588 (GRCm39)	C2694S	probably damaging	Het
Cyp2c40	T	C	19: 39,775,319 (GRCm39)	Y311C	probably benign	Het
Dennd5b	T	A	6: 148,969,760 (GRCm39)	N231I	probably damaging	Het
Dgkh	T	A	14: 78,816,232 (GRCm39)	H936L	probably benign	Het
Dmtf1	T	C	5: 9,170,347 (GRCm39)		probably null	Het
Dnai2	T	C	11: 114,643,777 (GRCm39)	V481A	possibly damaging	Het
Dnai3	T	C	3: 145,788,801 (GRCm39)	Y260C	probably damaging	Het
Dpyd	T	G	3: 118,710,780 (GRCm39)	V396G	probably damaging	Het
Elmo3	A	G	8: 106,035,213 (GRCm39)	D448G	probably damaging	Het
Emsy	A	T	7: 98,290,822 (GRCm39)	V100E	probably damaging	Het
Faah	T	C	4: 115,865,432 (GRCm39)	K85R	probably benign	Het
Fam149a	A	T	8: 45,792,399 (GRCm39)	Y686*	probably null	Het
Fat4	T	C	3: 39,064,633 (GRCm39)	V4863A	probably benign	Het
Fbxl8	A	G	8: 105,995,561 (GRCm39)	T358A	probably damaging	Het
Fcgbpl1	A	G	7: 27,854,157 (GRCm39)	Y1707C	probably damaging	Het
Fgfr3	A	G	5: 33,887,090 (GRCm39)	T165A	probably damaging	Het
Fnbp1l	A	T	3: 122,354,581 (GRCm39)	H180Q	probably damaging	Het
Gm8180	T	A	14: 44,021,196 (GRCm39)	H4L	probably benign	Het
Gon4l	T	C	3: 88,802,794 (GRCm39)	V1135A	probably damaging	Het
Gstcd	G	T	3: 132,688,868 (GRCm39)	N627K	probably damaging	Het
Gtf2a1l	G	A	17: 89,022,382 (GRCm39)	V458I	probably damaging	Het
Gtf3c3	T	C	1: 54,477,997 (GRCm39)	E26G	possibly damaging	Het
Hrct1	A	T	4: 43,727,404 (GRCm39)	T15S	probably benign	Het
Ift122	C	A	6: 115,868,889 (GRCm39)	R459S	probably damaging	Het
Irf1	T	A	11: 53,665,183 (GRCm39)	C187S	possibly damaging	Het
Kcnh7	A	G	2: 62,607,736 (GRCm39)	V615A	probably damaging	Het
Kif1c	T	C	11: 70,594,168 (GRCm39)	S61P	probably damaging	Het
Mamdc2	T	C	19: 23,336,517 (GRCm39)	T331A	probably damaging	Het
Mark2	T	C	19: 7,268,128 (GRCm39)	D25G	possibly damaging	Het
Me2	T	C	18: 73,918,785 (GRCm39)	D432G	probably benign	Het
Mfap3	T	C	11: 57,419,032 (GRCm39)	V64A	probably benign	Het
Nadk2	T	A	15: 9,108,399 (GRCm39)	M416K	probably benign	Het
Ndufs1	C	T	1: 63,186,576 (GRCm39)	G631D	probably benign	Het
Nomo1	G	A	7: 45,727,525 (GRCm39)	V1055I	probably benign	Het
Nuggc	T	A	14: 65,879,450 (GRCm39)		probably benign	Het
Nwd2	T	C	5: 63,962,197 (GRCm39)	S594P	probably damaging	Het
Or13c3	T	A	4: 52,856,373 (GRCm39)	I47L	probably benign	Het
Or4a27	T	G	2: 88,559,674 (GRCm39)	I90L	probably damaging	Het
Or4b1b	C	A	2: 90,112,502 (GRCm39)	C139F	probably damaging	Het
Or5b113	T	A	19: 13,342,705 (GRCm39)	S238T	possibly damaging	Het
Or6p1	T	C	1: 174,258,657 (GRCm39)	I221T	probably damaging	Het
Or8c10	C	T	9: 38,278,902 (GRCm39)	S10L	probably benign	Het
Pakap	A	G	4: 57,709,468 (GRCm39)	I138V	probably damaging	Het
Pcyt2	G	A	11: 120,501,968 (GRCm39)	P332S	probably benign	Het
Phaf1	A	G	8: 105,966,703 (GRCm39)	E150G	probably null	Het
Phf14	A	T	6: 11,987,610 (GRCm39)	M630L	probably benign	Het
Piezo1	T	C	8: 123,222,489 (GRCm39)	N919S	possibly damaging	Het
Pif1	A	T	9: 65,496,735 (GRCm39)	I283F	probably damaging	Het
Pknox2	G	A	9: 36,834,957 (GRCm39)	H171Y	probably damaging	Het
Pramel17	A	T	4: 101,694,135 (GRCm39)	D249E	probably benign	Het
Prkg2	T	A	5: 99,095,275 (GRCm39)	D632V	probably damaging	Het
Prr29	G	A	11: 106,266,264 (GRCm39)	A6T	probably damaging	Het
Rims1	T	A	1: 22,635,639 (GRCm39)	Y114F	probably damaging	Het
Ryr1	A	T	7: 28,708,977 (GRCm39)	D4796E	unknown	Het
Scnn1b	G	A	7: 121,513,484 (GRCm39)	C399Y	probably damaging	Het
Scp2	T	C	4: 107,948,518 (GRCm39)	Y153C	probably damaging	Het
Sema3d	A	G	5: 12,547,570 (GRCm39)	K164R	probably benign	Het
Siglecf	A	G	7: 43,001,648 (GRCm39)	T153A	probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Skint2	T	C	4: 112,504,315 (GRCm39)		probably benign	Het
Slc22a8	G	A	19: 8,583,503 (GRCm39)	R236H	probably damaging	Het
Slc25a40	T	A	5: 8,492,431 (GRCm39)		probably null	Het
Slc26a5	T	C	5: 22,021,956 (GRCm39)	D490G	possibly damaging	Het
Slc26a7	G	T	4: 14,522,873 (GRCm39)	D482E	probably benign	Het
Smarca2	A	T	19: 26,601,284 (GRCm39)	M77L	probably benign	Het
Sos2	A	G	12: 69,664,137 (GRCm39)	L449P	probably damaging	Het
Spaca1	A	G	4: 34,044,206 (GRCm39)	V96A	probably damaging	Het
Spata31d1b	T	A	13: 59,865,150 (GRCm39)	I766N	possibly damaging	Het
Specc1l	T	C	10: 75,145,693 (GRCm39)	Y1113H	probably damaging	Het
Speg	A	G	1: 75,365,649 (GRCm39)	R677G	probably damaging	Het
Taf5l	A	T	8: 124,724,729 (GRCm39)	D363E	probably damaging	Het
Tex56	A	T	13: 35,116,490 (GRCm39)	I80F	possibly damaging	Het
Tmem208	A	G	8: 106,061,438 (GRCm39)	K155E	possibly damaging	Het
Tppp2	A	C	14: 52,158,062 (GRCm39)	N169T	probably benign	Het
Trrap	T	A	5: 144,752,727 (GRCm39)		probably null	Het
Ttll6	T	A	11: 96,029,700 (GRCm39)	Y204*	probably null	Het
Ttn	A	T	2: 76,602,992 (GRCm39)	I18410K	probably benign	Het
V1rd19	T	A	7: 23,703,149 (GRCm39)	V205D	probably damaging	Het
Vdac3	A	T	8: 23,070,515 (GRCm39)	I132K	possibly damaging	Het
Vmn2r95	T	G	17: 18,672,530 (GRCm39)	C756G	probably damaging	Het
Zc3h15	A	G	2: 83,494,334 (GRCm39)	T421A	unknown	Het
Zc3hc1	T	C	6: 30,374,837 (GRCm39)	T235A	probably benign	Het
Zcchc14	A	G	8: 122,335,990 (GRCm39)		probably benign	Het
Zfp318	T	A	17: 46,722,366 (GRCm39)	N1456K	possibly damaging	Het
Zfp606	A	G	7: 12,214,858 (GRCm39)		probably benign	Het
Zfp811	T	A	17: 33,016,399 (GRCm39)	H546L	probably damaging	Het
Zfp94	A	T	7: 24,008,541 (GRCm39)	Y33N	probably damaging	Het
Zfyve9	G	T	4: 108,539,492 (GRCm39)		probably benign	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
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'- TTGTGGAGCTGAGATTGCCC -3'
(R):5'- ACTTTCCCAAGGAGTTCCCG -3'

Sequencing Primer
(F):5'- CTGAGATTGCCCGCCGC -3'
(R):5'- AAGGAGTTCCCGGAGTCTC -3'

Posted On

2014-06-23