Mutagenetix > Incidental Mutation

Incidental Mutation 'R7815:Erbb4'

601437

Institutional Source

Beutler Lab

Gene Symbol

Erbb4

Ensembl Gene

ENSMUSG00000062209

Gene Name

erb-b2 receptor tyrosine kinase 4

Synonyms

Her4, ErbB4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7815 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68071345-69147218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68081885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1050 (Y1050H)

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: Y1066H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: Y1066H

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: Y1050H

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

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: Y1050H

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,818,866 (GRCm39)	D1285G	probably benign	Het
Abcc9	A	G	6: 142,598,331 (GRCm39)	V669A	probably damaging	Het
Ajap1	C	A	4: 153,517,288 (GRCm39)	G18C	probably damaging	Het
Alms1	G	T	6: 85,592,340 (GRCm39)	M397I	probably benign	Het
Ampd2	A	T	3: 107,982,247 (GRCm39)	M794K	probably benign	Het
Ankrd35	A	T	3: 96,592,117 (GRCm39)	Q801L	probably damaging	Het
Casz1	A	T	4: 149,013,762 (GRCm39)	I109F	possibly damaging	Het
Ces5a	G	A	8: 94,247,623 (GRCm39)	S297F	possibly damaging	Het
Col7a1	A	G	9: 108,798,633 (GRCm39)	D1762G	probably damaging	Het
Dsp	A	T	13: 38,375,446 (GRCm39)	Y1077F	probably benign	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Fpgt	A	T	3: 154,792,289 (GRCm39)	S579R	probably benign	Het
Gabra4	T	A	5: 71,815,152 (GRCm39)	M1L	possibly damaging	Het
Galk2	G	A	2: 125,817,321 (GRCm39)	S370N	probably damaging	Het
Gpr155	T	A	2: 73,192,904 (GRCm39)	T516S	probably benign	Het
Homez	T	C	14: 55,095,675 (GRCm39)	N11S	probably benign	Het
Hspg2	G	A	4: 137,239,775 (GRCm39)	G494D	probably damaging	Het
Htr3b	C	T	9: 48,856,833 (GRCm39)	R215Q	probably benign	Het
Igfbp4	A	G	11: 98,932,654 (GRCm39)	E111G	probably benign	Het
Igkv8-19	T	C	6: 70,318,420 (GRCm39)	T5A	probably benign	Het
Insrr	A	G	3: 87,716,002 (GRCm39)	K566E	probably damaging	Het
Iqsec3	A	G	6: 121,450,317 (GRCm39)	V69A	probably benign	Het
Kdm5d	T	C	Y: 940,702 (GRCm39)	V1071A	probably damaging	Het
Kif28	A	G	1: 179,563,548 (GRCm39)	C143R	probably damaging	Het
Kpna6	T	C	4: 129,551,590 (GRCm39)	M65V	probably benign	Het
L3mbtl3	T	C	10: 26,156,276 (GRCm39)	S669G	unknown	Het
Man1a2	A	T	3: 100,563,495 (GRCm39)	I50N	probably damaging	Het
Map3k11	A	T	19: 5,745,667 (GRCm39)	M356L	possibly damaging	Het
Meioc	A	T	11: 102,566,414 (GRCm39)	N677Y	probably damaging	Het
Myom3	A	T	4: 135,528,674 (GRCm39)	K1108M	possibly damaging	Het
Nav1	C	T	1: 135,512,377 (GRCm39)	E228K	possibly damaging	Het
Ncapd3	G	A	9: 26,974,736 (GRCm39)	W736*	probably null	Het
Nfkb1	T	C	3: 135,309,552 (GRCm39)	D514G	probably damaging	Het
Nnt	T	A	13: 119,494,111 (GRCm39)	T657S	possibly damaging	Het
Or4k5	A	G	14: 50,386,253 (GRCm39)	F26S	probably benign	Het
Or51b4	A	G	7: 103,530,992 (GRCm39)	S153P	probably benign	Het
Oser1	A	T	2: 163,253,336 (GRCm39)	S58T	possibly damaging	Het
Pcdha5	T	A	18: 37,094,556 (GRCm39)	I355N	possibly damaging	Het
Pllp	C	G	8: 95,402,804 (GRCm39)	G99A	probably damaging	Het
Pram1	A	G	17: 33,861,106 (GRCm39)	N509S	probably benign	Het
Prkd1	A	C	12: 50,472,300 (GRCm39)	N204K	probably damaging	Het
Prss23	G	A	7: 89,159,253 (GRCm39)	P272L	probably damaging	Het
Pxdn	T	C	12: 30,055,824 (GRCm39)	F1057L	probably damaging	Het
Rapgef5	T	A	12: 117,719,702 (GRCm39)	S777R	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rfx3	A	T	19: 27,803,448 (GRCm39)	M265K	probably benign	Het
S100a7a	C	A	3: 90,565,119 (GRCm39)	H105N	probably benign	Het
Serpinb3b	T	C	1: 107,084,625 (GRCm39)	D132G	probably damaging	Het
Sp7	T	A	15: 102,274,822 (GRCm39)		probably benign	Het
Tacstd2	A	G	6: 67,512,140 (GRCm39)	F184S	possibly damaging	Het
Trdc	C	A	14: 54,381,259 (GRCm39)		probably benign	Het
Trpa1	T	A	1: 14,974,486 (GRCm39)	H232L	probably benign	Het
Trpc3	G	T	3: 36,709,294 (GRCm39)	T394K	probably benign	Het
Tuba3b	G	A	6: 145,566,847 (GRCm39)	V363I	possibly damaging	Het
Tubb2a	C	A	13: 34,258,962 (GRCm39)	R276L	probably benign	Het
Ubap2l	A	T	3: 89,951,071 (GRCm39)	L72*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Wdr26	A	G	1: 181,036,638 (GRCm39)	V166A	probably benign	Het
Wwox	T	C	8: 115,438,776 (GRCm39)	S281P	probably damaging	Het
Xirp2	G	A	2: 67,339,756 (GRCm39)	G666R	probably damaging	Het
Zfp131	T	C	13: 120,237,516 (GRCm39)	K247E	probably damaging	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
R4642:Erbb4	UTSW	1	68,289,791 (GRCm39)	missense	probably damaging	1.00
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
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'- TCCTCTTGGACATGGGGTGC -3'
(R):5'- CACGACCCTTTTGAGAGCAC -3'

Sequencing Primer
(F):5'- CCACTGGCTTTCGTAGGGTAC -3'
(R):5'- GACCCTTTTGAGAGCACATGTCAAG -3'

Posted On

2019-12-03