Mutagenetix > Incidental Mutation

Incidental Mutation 'R7784:Erbb4'

599417

Institutional Source

Beutler Lab

Gene Symbol

Erbb4

Ensembl Gene

ENSMUSG00000062209

Gene Name

erb-b2 receptor tyrosine kinase 4

Synonyms

Her4, ErbB4

MMRRC Submission

045840-MU

Accession Numbers

Ncbi RefSeq: NM_010154.1; MGI:104771

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68032186-69108059 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68075499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 929 (I929F)

Ref Sequence

ENSEMBL: ENSMUSP00000114123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119142] [ENSMUST00000121473]

AlphaFold

Q61527

Predicted Effect

probably damaging
Transcript: ENSMUST00000119142
AA Change: I929F

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

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: I929F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Recep_L_domain	55	167	5e-34	PFAM
FU	183	223	2.07e1	SMART
FU	226	268	5.78e-10	SMART
Pfam:Recep_L_domain	358	478	1e-29	PFAM
FU	493	544	6.45e-8	SMART
FU	549	599	3.51e-9	SMART
FU	611	659	2.32e0	SMART
TyrKc	718	974	7.53e-133	SMART
low complexity region	1007	1023	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121473
AA Change: I929F

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

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: I929F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Recep_L_domain	55	167	1.6e-34	PFAM
FU	183	223	2.07e1	SMART
FU	226	268	5.78e-10	SMART
Pfam:Recep_L_domain	358	478	5.5e-29	PFAM
FU	493	544	6.45e-8	SMART
FU	549	599	3.51e-9	SMART
FU	611	659	2.32e0	SMART
TyrKc	718	974	7.53e-133	SMART
low complexity region	1007	1023	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

MGI Phenotype

Strain: 1929607
Lethality: E10-E11
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted(6) Gene trapped(1)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	possibly damaging	Het

Other mutations in Erbb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Erbb4	APN	1	68,071,630 (GRCm38)	nonsense	probably null
IGL01020:Erbb4	APN	1	68,298,449 (GRCm38)	splice site	probably benign
IGL01349:Erbb4	APN	1	68,346,593 (GRCm38)	missense	probably benign	0.00
IGL01386:Erbb4	APN	1	68,343,931 (GRCm38)	missense	probably damaging	1.00
IGL01516:Erbb4	APN	1	68,328,245 (GRCm38)	nonsense	probably null
IGL01536:Erbb4	APN	1	68,290,282 (GRCm38)	missense	probably benign	0.00
IGL01721:Erbb4	APN	1	68,254,563 (GRCm38)	missense	possibly damaging	0.46
IGL01832:Erbb4	APN	1	68,254,566 (GRCm38)	missense	possibly damaging	0.84
IGL02002:Erbb4	APN	1	68,080,726 (GRCm38)	missense	probably damaging	1.00
IGL02040:Erbb4	APN	1	68,042,535 (GRCm38)	missense	probably damaging	1.00
IGL02371:Erbb4	APN	1	68,290,294 (GRCm38)	missense	probably benign	0.00
IGL02399:Erbb4	APN	1	68,042,437 (GRCm38)	splice site	probably benign
IGL02553:Erbb4	APN	1	68,305,864 (GRCm38)	missense	probably benign	0.17
IGL03118:Erbb4	APN	1	68,042,719 (GRCm38)	missense	probably benign	0.11
IGL03329:Erbb4	APN	1	68,328,122 (GRCm38)	missense	probably benign	0.30
IGL03405:Erbb4	APN	1	68,330,238 (GRCm38)	missense	probably benign	0.02
earthworm	UTSW	1	68,250,580 (GRCm38)	missense	possibly damaging	0.67
excrescence	UTSW	1	68,330,246 (GRCm38)	missense	probably damaging	1.00
Mole	UTSW	1	68,560,576 (GRCm38)	missense	probably damaging	1.00
P0018:Erbb4	UTSW	1	68,071,676 (GRCm38)	missense	probably benign	0.05
PIT4480001:Erbb4	UTSW	1	68,075,543 (GRCm38)	missense	probably damaging	1.00
R0193:Erbb4	UTSW	1	68,043,960 (GRCm38)	intron	probably benign
R0329:Erbb4	UTSW	1	68,298,280 (GRCm38)	splice site	probably benign
R0335:Erbb4	UTSW	1	68,259,259 (GRCm38)	missense	probably benign
R0362:Erbb4	UTSW	1	68,330,270 (GRCm38)	missense	probably damaging	0.99
R0579:Erbb4	UTSW	1	68,042,462 (GRCm38)	missense	probably benign	0.17
R0730:Erbb4	UTSW	1	68,259,290 (GRCm38)	missense	probably damaging	0.98
R1029:Erbb4	UTSW	1	68,309,614 (GRCm38)	missense	probably damaging	0.96
R1444:Erbb4	UTSW	1	68,254,600 (GRCm38)	missense	probably damaging	1.00
R1469:Erbb4	UTSW	1	68,560,682 (GRCm38)	missense	probably damaging	0.99
R1469:Erbb4	UTSW	1	68,560,682 (GRCm38)	missense	probably damaging	0.99
R1503:Erbb4	UTSW	1	68,346,546 (GRCm38)	missense	probably benign	0.00
R1523:Erbb4	UTSW	1	68,396,252 (GRCm38)	missense	possibly damaging	0.95
R1528:Erbb4	UTSW	1	68,078,582 (GRCm38)	nonsense	probably null
R1604:Erbb4	UTSW	1	68,346,569 (GRCm38)	missense	possibly damaging	0.88
R1611:Erbb4	UTSW	1	68,040,388 (GRCm38)	missense	probably damaging	1.00
R1642:Erbb4	UTSW	1	68,331,234 (GRCm38)	missense	probably damaging	1.00
R1905:Erbb4	UTSW	1	68,075,410 (GRCm38)	splice site	probably benign
R1929:Erbb4	UTSW	1	68,198,888 (GRCm38)	missense	probably damaging	0.98
R2046:Erbb4	UTSW	1	68,298,323 (GRCm38)	missense	probably benign	0.02
R2139:Erbb4	UTSW	1	68,346,629 (GRCm38)	missense	probably damaging	0.96
R2271:Erbb4	UTSW	1	68,198,888 (GRCm38)	missense	probably damaging	0.98
R2298:Erbb4	UTSW	1	68,042,531 (GRCm38)	missense	probably damaging	1.00
R2356:Erbb4	UTSW	1	68,078,596 (GRCm38)	missense	probably benign	0.00
R3821:Erbb4	UTSW	1	68,305,913 (GRCm38)	missense	probably damaging	0.97
R4007:Erbb4	UTSW	1	68,740,401 (GRCm38)	missense	probably damaging	1.00
R4012:Erbb4	UTSW	1	68,560,576 (GRCm38)	missense	probably damaging	1.00
R4077:Erbb4	UTSW	1	68,040,337 (GRCm38)	missense	probably benign	0.07
R4196:Erbb4	UTSW	1	68,343,855 (GRCm38)	missense	possibly damaging	0.90
R4536:Erbb4	UTSW	1	68,346,622 (GRCm38)	missense	probably damaging	1.00
R4561:Erbb4	UTSW	1	68,343,921 (GRCm38)	nonsense	probably null
R4642:Erbb4	UTSW	1	68,250,632 (GRCm38)	missense	probably damaging	1.00
R4737:Erbb4	UTSW	1	68,343,900 (GRCm38)	missense	probably damaging	0.98
R4739:Erbb4	UTSW	1	68,343,900 (GRCm38)	missense	probably damaging	0.98
R4780:Erbb4	UTSW	1	68,298,314 (GRCm38)	missense	probably damaging	1.00
R4801:Erbb4	UTSW	1	68,330,246 (GRCm38)	missense	probably damaging	1.00
R4802:Erbb4	UTSW	1	68,330,246 (GRCm38)	missense	probably damaging	1.00
R4811:Erbb4	UTSW	1	68,254,544 (GRCm38)	missense	probably damaging	1.00
R4832:Erbb4	UTSW	1	68,330,238 (GRCm38)	missense	probably benign	0.02
R5068:Erbb4	UTSW	1	68,043,902 (GRCm38)	splice site	probably null
R5546:Erbb4	UTSW	1	68,298,293 (GRCm38)	missense	probably damaging	0.99
R5755:Erbb4	UTSW	1	68,560,519 (GRCm38)	missense	possibly damaging	0.96
R6189:Erbb4	UTSW	1	68,043,916 (GRCm38)	missense	probably benign
R6257:Erbb4	UTSW	1	68,396,273 (GRCm38)	missense	probably damaging	1.00
R6276:Erbb4	UTSW	1	68,560,576 (GRCm38)	missense	probably damaging	1.00
R6521:Erbb4	UTSW	1	68,042,530 (GRCm38)	missense	probably damaging	1.00
R6602:Erbb4	UTSW	1	68,370,503 (GRCm38)	missense	probably damaging	0.99
R6808:Erbb4	UTSW	1	68,040,303 (GRCm38)	missense	probably benign	0.00
R7087:Erbb4	UTSW	1	68,740,491 (GRCm38)	missense	probably null	1.00
R7215:Erbb4	UTSW	1	68,339,460 (GRCm38)	missense	probably benign
R7356:Erbb4	UTSW	1	68,339,355 (GRCm38)	critical splice donor site	probably null
R7509:Erbb4	UTSW	1	68,250,580 (GRCm38)	missense	possibly damaging	0.67
R7593:Erbb4	UTSW	1	68,254,599 (GRCm38)	missense	probably damaging	0.99
R7743:Erbb4	UTSW	1	68,328,119 (GRCm38)	missense	probably benign	0.00
R7815:Erbb4	UTSW	1	68,042,726 (GRCm38)	missense	probably damaging	1.00
R7923:Erbb4	UTSW	1	68,259,209 (GRCm38)	missense	probably damaging	1.00
R8071:Erbb4	UTSW	1	68,396,311 (GRCm38)	missense	probably damaging	1.00
R8288:Erbb4	UTSW	1	68,298,350 (GRCm38)	missense	probably damaging	1.00
R8356:Erbb4	UTSW	1	68,071,630 (GRCm38)	missense	probably damaging	1.00
R8456:Erbb4	UTSW	1	68,071,630 (GRCm38)	missense	probably damaging	1.00
R8464:Erbb4	UTSW	1	68,309,626 (GRCm38)	missense	probably benign
R8783:Erbb4	UTSW	1	68,040,172 (GRCm38)	missense	possibly damaging	0.95
R8830:Erbb4	UTSW	1	68,075,468 (GRCm38)	missense	probably damaging	1.00
R8881:Erbb4	UTSW	1	68,343,838 (GRCm38)	critical splice donor site	probably null
R9053:Erbb4	UTSW	1	68,250,620 (GRCm38)	missense	possibly damaging	0.63
R9142:Erbb4	UTSW	1	68,349,393 (GRCm38)	missense	probably damaging	1.00
R9237:Erbb4	UTSW	1	68,042,442 (GRCm38)	missense	possibly damaging	0.72
R9350:Erbb4	UTSW	1	68,290,479 (GRCm38)	missense	probably benign	0.00
R9374:Erbb4	UTSW	1	68,740,483 (GRCm38)	nonsense	probably null
R9434:Erbb4	UTSW	1	68,042,614 (GRCm38)	missense	possibly damaging	0.84
R9499:Erbb4	UTSW	1	68,740,483 (GRCm38)	nonsense	probably null
R9551:Erbb4	UTSW	1	68,740,483 (GRCm38)	nonsense	probably null
R9753:Erbb4	UTSW	1	68,198,903 (GRCm38)	missense	probably benign	0.00
X0019:Erbb4	UTSW	1	68,073,145 (GRCm38)	missense	probably benign	0.00
Z1176:Erbb4	UTSW	1	68,328,259 (GRCm38)	nonsense	probably null
Z1176:Erbb4	UTSW	1	68,298,402 (GRCm38)	frame shift	probably null
Z1177:Erbb4	UTSW	1	68,309,643 (GRCm38)	missense	probably benign	0.06
Z1177:Erbb4	UTSW	1	68,290,476 (GRCm38)	missense	probably damaging	1.00
Z1177:Erbb4	UTSW	1	68,259,183 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACAATTCAGAGAAACATTTTGCAGG -3'
(R):5'- GAATTCTTACTGTGACTTGTCTCCG -3'

Sequencing Primer
(F):5'- CAGAGAAACATTTTGCAGGTAAAAC -3'
(R):5'- TAGCATTGGAATCCTGGCAG -3'

Posted On

2019-11-26