Mutagenetix > Incidental Mutation

Incidental Mutation 'R4642:Erbb4'

351669

Institutional Source

Beutler Lab

Gene Symbol

Erbb4

Ensembl Gene

ENSMUSG00000062209

Gene Name

erb-b2 receptor tyrosine kinase 4

Synonyms

Her4, ErbB4

MMRRC Submission

041904-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4642 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68071345-69147218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68289791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 750 (I750T)

Ref Sequence

ENSEMBL: ENSMUSP00000114123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119142] [ENSMUST00000121473] [ENSMUST00000153432]

AlphaFold

Q61527

Predicted Effect

probably damaging
Transcript: ENSMUST00000119142
AA Change: I750T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: I750T

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: I750T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: I750T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153432

SMART Domains

Protein: ENSMUSP00000115373
Gene: ENSMUSG00000062209

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Recep_L_domain	55	167	1.7e-34	PFAM
FU	183	223	2.07e1	SMART
FU	226	268	5.78e-10	SMART
Pfam:Recep_L_domain	358	478	5.7e-29	PFAM
FU	493	544	6.45e-8	SMART
FU	549	599	3.51e-9	SMART
FU	611	649	2.98e0	SMART
PDB:2R4B\|B	680	732	1e-25	PDB

Meta Mutation Damage Score

0.4774

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (46/48)

MGI Phenotype

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	T	C	8: 80,415,982 (GRCm39)	T387A	probably damaging	Het
Acaca	A	T	11: 84,171,287 (GRCm39)	T3S	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Cacna1g	A	G	11: 94,308,920 (GRCm39)	I1631T	probably damaging	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Ccbe1	A	T	18: 66,424,654 (GRCm39)		probably benign	Het
Ccdc184	T	G	15: 98,066,537 (GRCm39)	V114G	probably benign	Het
Cpxm2	C	T	7: 131,672,610 (GRCm39)	R313H	probably benign	Het
Crebrf	G	T	17: 26,962,035 (GRCm39)	E377D	probably benign	Het
Dcstamp	T	C	15: 39,618,118 (GRCm39)	F176L	probably benign	Het
Dnah2	T	C	11: 69,387,385 (GRCm39)	D947G	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm16391	T	G	17: 76,591,826 (GRCm39)		noncoding transcript	Het
Gm973	A	T	1: 59,597,273 (GRCm39)	E434D	probably damaging	Het
Hdac7	T	C	15: 97,704,397 (GRCm39)	E491G	probably damaging	Het
Hyal5	A	G	6: 24,876,621 (GRCm39)	N165D	probably benign	Het
Ly86	A	T	13: 37,560,877 (GRCm39)	R79S	possibly damaging	Het
Mapk7	A	G	11: 61,381,727 (GRCm39)	I13T	probably damaging	Het
Medag	T	A	5: 149,335,444 (GRCm39)	M1K	probably null	Het
Myh9	T	C	15: 77,646,151 (GRCm39)	D1944G	probably benign	Het
Nadk2	T	C	15: 9,092,810 (GRCm39)	W206R	possibly damaging	Het
Or7g18	T	A	9: 18,787,463 (GRCm39)	M280K	probably damaging	Het
Pcdhb11	T	A	18: 37,555,021 (GRCm39)	F117Y	probably benign	Het
Pdzd8	C	T	19: 59,293,662 (GRCm39)	E396K	probably damaging	Het
Piezo1	T	A	8: 123,222,193 (GRCm39)	Y541F	probably damaging	Het
Polr3h	T	C	15: 81,806,667 (GRCm39)	I51V	probably benign	Het
Prune2	T	C	19: 16,998,019 (GRCm39)		probably null	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Rars2	T	G	4: 34,656,229 (GRCm39)	V461G	probably damaging	Het
Rasgrp3	T	C	17: 75,805,443 (GRCm39)	C145R	possibly damaging	Het
Ryr1	T	C	7: 28,785,463 (GRCm39)	T1743A	possibly damaging	Het
Sac3d1	G	A	19: 6,166,434 (GRCm39)	A325V	possibly damaging	Het
Shank1	A	T	7: 43,962,565 (GRCm39)	D93V	unknown	Het
Smg1	T	C	7: 117,753,487 (GRCm39)		probably benign	Het
Tbl1xr1	A	T	3: 22,242,584 (GRCm39)	N38I	probably damaging	Het
Ufc1	A	G	1: 171,117,467 (GRCm39)	I82T	probably benign	Het
Uggt2	A	T	14: 119,272,347 (GRCm39)	M434K	probably benign	Het
Unc80	G	A	1: 66,710,873 (GRCm39)		probably null	Het
Zan	T	A	5: 137,462,450 (GRCm39)	T910S	unknown	Het
Zfp64	A	G	2: 168,776,851 (GRCm39)	C256R	probably benign	Het

Other mutations in Erbb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Erbb4	APN	1	68,110,789 (GRCm39)	nonsense	probably null
IGL01020:Erbb4	APN	1	68,337,608 (GRCm39)	splice site	probably benign
IGL01349:Erbb4	APN	1	68,385,752 (GRCm39)	missense	probably benign	0.00
IGL01386:Erbb4	APN	1	68,383,090 (GRCm39)	missense	probably damaging	1.00
IGL01516:Erbb4	APN	1	68,367,404 (GRCm39)	nonsense	probably null
IGL01536:Erbb4	APN	1	68,329,441 (GRCm39)	missense	probably benign	0.00
IGL01721:Erbb4	APN	1	68,293,722 (GRCm39)	missense	possibly damaging	0.46
IGL01832:Erbb4	APN	1	68,293,725 (GRCm39)	missense	possibly damaging	0.84
IGL02002:Erbb4	APN	1	68,119,885 (GRCm39)	missense	probably damaging	1.00
IGL02040:Erbb4	APN	1	68,081,694 (GRCm39)	missense	probably damaging	1.00
IGL02371:Erbb4	APN	1	68,329,453 (GRCm39)	missense	probably benign	0.00
IGL02399:Erbb4	APN	1	68,081,596 (GRCm39)	splice site	probably benign
IGL02553:Erbb4	APN	1	68,345,023 (GRCm39)	missense	probably benign	0.17
IGL03118:Erbb4	APN	1	68,081,878 (GRCm39)	missense	probably benign	0.11
IGL03329:Erbb4	APN	1	68,367,281 (GRCm39)	missense	probably benign	0.30
IGL03405:Erbb4	APN	1	68,369,397 (GRCm39)	missense	probably benign	0.02
earthworm	UTSW	1	68,289,739 (GRCm39)	missense	possibly damaging	0.67
excrescence	UTSW	1	68,369,405 (GRCm39)	missense	probably damaging	1.00
Mole	UTSW	1	68,599,735 (GRCm39)	missense	probably damaging	1.00
P0018:Erbb4	UTSW	1	68,110,835 (GRCm39)	missense	probably benign	0.05
PIT4480001:Erbb4	UTSW	1	68,114,702 (GRCm39)	missense	probably damaging	1.00
R0193:Erbb4	UTSW	1	68,083,119 (GRCm39)	intron	probably benign
R0329:Erbb4	UTSW	1	68,337,439 (GRCm39)	splice site	probably benign
R0335:Erbb4	UTSW	1	68,298,418 (GRCm39)	missense	probably benign
R0362:Erbb4	UTSW	1	68,369,429 (GRCm39)	missense	probably damaging	0.99
R0579:Erbb4	UTSW	1	68,081,621 (GRCm39)	missense	probably benign	0.17
R0730:Erbb4	UTSW	1	68,298,449 (GRCm39)	missense	probably damaging	0.98
R1029:Erbb4	UTSW	1	68,348,773 (GRCm39)	missense	probably damaging	0.96
R1444:Erbb4	UTSW	1	68,293,759 (GRCm39)	missense	probably damaging	1.00
R1469:Erbb4	UTSW	1	68,599,841 (GRCm39)	missense	probably damaging	0.99
R1469:Erbb4	UTSW	1	68,599,841 (GRCm39)	missense	probably damaging	0.99
R1503:Erbb4	UTSW	1	68,385,705 (GRCm39)	missense	probably benign	0.00
R1523:Erbb4	UTSW	1	68,435,411 (GRCm39)	missense	possibly damaging	0.95
R1528:Erbb4	UTSW	1	68,117,741 (GRCm39)	nonsense	probably null
R1604:Erbb4	UTSW	1	68,385,728 (GRCm39)	missense	possibly damaging	0.88
R1611:Erbb4	UTSW	1	68,079,547 (GRCm39)	missense	probably damaging	1.00
R1642:Erbb4	UTSW	1	68,370,393 (GRCm39)	missense	probably damaging	1.00
R1905:Erbb4	UTSW	1	68,114,569 (GRCm39)	splice site	probably benign
R1929:Erbb4	UTSW	1	68,238,047 (GRCm39)	missense	probably damaging	0.98
R2046:Erbb4	UTSW	1	68,337,482 (GRCm39)	missense	probably benign	0.02
R2139:Erbb4	UTSW	1	68,385,788 (GRCm39)	missense	probably damaging	0.96
R2271:Erbb4	UTSW	1	68,238,047 (GRCm39)	missense	probably damaging	0.98
R2298:Erbb4	UTSW	1	68,081,690 (GRCm39)	missense	probably damaging	1.00
R2356:Erbb4	UTSW	1	68,117,755 (GRCm39)	missense	probably benign	0.00
R3821:Erbb4	UTSW	1	68,345,072 (GRCm39)	missense	probably damaging	0.97
R4007:Erbb4	UTSW	1	68,779,560 (GRCm39)	missense	probably damaging	1.00
R4012:Erbb4	UTSW	1	68,599,735 (GRCm39)	missense	probably damaging	1.00
R4077:Erbb4	UTSW	1	68,079,496 (GRCm39)	missense	probably benign	0.07
R4196:Erbb4	UTSW	1	68,383,014 (GRCm39)	missense	possibly damaging	0.90
R4536:Erbb4	UTSW	1	68,385,781 (GRCm39)	missense	probably damaging	1.00
R4561:Erbb4	UTSW	1	68,383,080 (GRCm39)	nonsense	probably null
R4737:Erbb4	UTSW	1	68,383,059 (GRCm39)	missense	probably damaging	0.98
R4739:Erbb4	UTSW	1	68,383,059 (GRCm39)	missense	probably damaging	0.98
R4780:Erbb4	UTSW	1	68,337,473 (GRCm39)	missense	probably damaging	1.00
R4801:Erbb4	UTSW	1	68,369,405 (GRCm39)	missense	probably damaging	1.00
R4802:Erbb4	UTSW	1	68,369,405 (GRCm39)	missense	probably damaging	1.00
R4811:Erbb4	UTSW	1	68,293,703 (GRCm39)	missense	probably damaging	1.00
R4832:Erbb4	UTSW	1	68,369,397 (GRCm39)	missense	probably benign	0.02
R5068:Erbb4	UTSW	1	68,083,061 (GRCm39)	splice site	probably null
R5546:Erbb4	UTSW	1	68,337,452 (GRCm39)	missense	probably damaging	0.99
R5755:Erbb4	UTSW	1	68,599,678 (GRCm39)	missense	possibly damaging	0.96
R6189:Erbb4	UTSW	1	68,083,075 (GRCm39)	missense	probably benign
R6257:Erbb4	UTSW	1	68,435,432 (GRCm39)	missense	probably damaging	1.00
R6276:Erbb4	UTSW	1	68,599,735 (GRCm39)	missense	probably damaging	1.00
R6521:Erbb4	UTSW	1	68,081,689 (GRCm39)	missense	probably damaging	1.00
R6602:Erbb4	UTSW	1	68,409,662 (GRCm39)	missense	probably damaging	0.99
R6808:Erbb4	UTSW	1	68,079,462 (GRCm39)	missense	probably benign	0.00
R7087:Erbb4	UTSW	1	68,779,650 (GRCm39)	missense	probably null	1.00
R7215:Erbb4	UTSW	1	68,378,619 (GRCm39)	missense	probably benign
R7356:Erbb4	UTSW	1	68,378,514 (GRCm39)	critical splice donor site	probably null
R7509:Erbb4	UTSW	1	68,289,739 (GRCm39)	missense	possibly damaging	0.67
R7593:Erbb4	UTSW	1	68,293,758 (GRCm39)	missense	probably damaging	0.99
R7743:Erbb4	UTSW	1	68,367,278 (GRCm39)	missense	probably benign	0.00
R7784:Erbb4	UTSW	1	68,114,658 (GRCm39)	missense	probably damaging	1.00
R7815:Erbb4	UTSW	1	68,081,885 (GRCm39)	missense	probably damaging	1.00
R7923:Erbb4	UTSW	1	68,298,368 (GRCm39)	missense	probably damaging	1.00
R8071:Erbb4	UTSW	1	68,435,470 (GRCm39)	missense	probably damaging	1.00
R8288:Erbb4	UTSW	1	68,337,509 (GRCm39)	missense	probably damaging	1.00
R8356:Erbb4	UTSW	1	68,110,789 (GRCm39)	missense	probably damaging	1.00
R8456:Erbb4	UTSW	1	68,110,789 (GRCm39)	missense	probably damaging	1.00
R8464:Erbb4	UTSW	1	68,348,785 (GRCm39)	missense	probably benign
R8783:Erbb4	UTSW	1	68,079,331 (GRCm39)	missense	possibly damaging	0.95
R8830:Erbb4	UTSW	1	68,114,627 (GRCm39)	missense	probably damaging	1.00
R8881:Erbb4	UTSW	1	68,382,997 (GRCm39)	critical splice donor site	probably null
R9053:Erbb4	UTSW	1	68,289,779 (GRCm39)	missense	possibly damaging	0.63
R9142:Erbb4	UTSW	1	68,388,552 (GRCm39)	missense	probably damaging	1.00
R9237:Erbb4	UTSW	1	68,081,601 (GRCm39)	missense	possibly damaging	0.72
R9350:Erbb4	UTSW	1	68,329,638 (GRCm39)	missense	probably benign	0.00
R9374:Erbb4	UTSW	1	68,779,642 (GRCm39)	nonsense	probably null
R9434:Erbb4	UTSW	1	68,081,773 (GRCm39)	missense	possibly damaging	0.84
R9499:Erbb4	UTSW	1	68,779,642 (GRCm39)	nonsense	probably null
R9551:Erbb4	UTSW	1	68,779,642 (GRCm39)	nonsense	probably null
R9753:Erbb4	UTSW	1	68,238,062 (GRCm39)	missense	probably benign	0.00
X0019:Erbb4	UTSW	1	68,112,304 (GRCm39)	missense	probably benign	0.00
Z1176:Erbb4	UTSW	1	68,367,418 (GRCm39)	nonsense	probably null
Z1176:Erbb4	UTSW	1	68,337,561 (GRCm39)	frame shift	probably null
Z1177:Erbb4	UTSW	1	68,348,802 (GRCm39)	missense	probably benign	0.06
Z1177:Erbb4	UTSW	1	68,329,635 (GRCm39)	missense	probably damaging	1.00
Z1177:Erbb4	UTSW	1	68,298,342 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGGATCCTAGCACTTTAAGCATGAG -3'
(R):5'- CGATAATCCATGCATTCTTATCTAGCC -3'

Sequencing Primer
(F):5'- GCATGAGGTTATAATAGGTATAGATG -3'
(R):5'- TTAAAATGGAGGCCATGAACTTG -3'

Posted On

2015-10-08