Mutagenetix > Incidental Mutation

Incidental Mutation 'R1523:Erbb4'

167594

Institutional Source

Beutler Lab

Gene Symbol

Erbb4

Ensembl Gene

ENSMUSG00000062209

Gene Name

erb-b2 receptor tyrosine kinase 4

Synonyms

Her4, ErbB4

Accession Numbers

Ncbi RefSeq: NM_010154.1; MGI:104771

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68032186-69108059 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68396252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 162 (H162L)

Ref Sequence

ENSEMBL: ENSMUSP00000114123 (fasta)

Gene Model

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

AlphaFold

Q61527

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119142
AA Change: H162L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: H162L

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

possibly damaging
Transcript: ENSMUST00000121473
AA Change: H162L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: H162L

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
AA Change: H162L

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115373
Gene: ENSMUSG00000062209
AA Change: H162L

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

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,440,406	E48*	probably null	Het
4930503B20Rik	A	G	3: 146,651,109	S15P	probably damaging	Het
4933402E13Rik	T	A	X: 62,290,906	D177E	probably benign	Het
5530400C23Rik	A	G	6: 133,294,293	E100G	possibly damaging	Het
Abcg2	T	C	6: 58,685,694	F507S	possibly damaging	Het
Adgrf5	A	T	17: 43,450,153	Q913L	probably benign	Het
Ak7	A	T	12: 105,766,608	N537I	probably benign	Het
Anks1	T	A	17: 28,051,655		probably null	Het
Arhgap32	T	A	9: 32,256,752	V677D	probably damaging	Het
Arnt	C	T	3: 95,489,654	P466L	possibly damaging	Het
Arrb1	T	G	7: 99,594,665	L274R	probably damaging	Het
Atf2	A	T	2: 73,863,208	D3E	probably damaging	Het
Baz2b	C	T	2: 59,968,637	R381Q	possibly damaging	Het
Cacna1g	C	T	11: 94,442,729		probably null	Het
Ccr10	C	T	11: 101,173,675	R343Q	probably damaging	Het
Clca2	G	T	3: 145,071,644	S822*	probably null	Het
Col12a1	A	T	9: 79,660,996	Y1649N	probably benign	Het
Col23a1	G	A	11: 51,561,916		probably null	Het
Cp	T	C	3: 19,989,065	Y1006H	probably benign	Het
Ctbs	A	G	3: 146,454,980	T101A	probably benign	Het
Cyp4a31	T	C	4: 115,569,754	F170L	probably benign	Het
Dock1	A	C	7: 134,744,247	I173L	possibly damaging	Het
Dock4	A	G	12: 40,693,025	D393G	possibly damaging	Het
Dsg1a	T	A	18: 20,322,317	S113T	probably damaging	Het
Epha3	T	C	16: 63,610,948	D530G	probably damaging	Het
Fam131c	C	T	4: 141,382,831	T180I	probably benign	Het
Fndc1	A	G	17: 7,773,209	S552P	unknown	Het
Foxf1	A	G	8: 121,084,558		probably null	Het
Frem2	T	C	3: 53,655,407	T560A	possibly damaging	Het
Gabra4	G	A	5: 71,633,632	T289M	probably damaging	Het
Gcnt1	A	G	19: 17,329,833	V176A	probably damaging	Het
Gemin8	G	A	X: 166,180,648	S100N	probably benign	Het
Gm1527	T	C	3: 28,920,418	I460T	probably damaging	Het
Gm6729	A	G	10: 86,540,175		noncoding transcript	Het
Gprin2	T	C	14: 34,195,079	S245G	probably benign	Het
Gsdmc	A	T	15: 63,803,630	I112N	probably damaging	Het
Hspb6	A	G	7: 30,553,423	D30G	probably benign	Het
Hydin	A	G	8: 110,533,271	D2625G	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Irf2	T	A	8: 46,837,840		probably null	Het
Kdm3b	T	C	18: 34,793,173		probably null	Het
Khdc3	G	A	9: 73,103,491	E208K	possibly damaging	Het
Kifc1	A	T	17: 33,883,662	S263T	probably benign	Het
Lrig3	C	A	10: 126,008,698	T677K	probably damaging	Het
Mapkapk3	A	T	9: 107,263,623		probably null	Het
Mertk	T	C	2: 128,790,328		probably null	Het
Metrn	A	G	17: 25,794,977	*292R	probably null	Het
Mllt6	G	T	11: 97,665,023	A60S	probably damaging	Het
Mmp21	T	C	7: 133,679,045	I65M	probably benign	Het
Myo7b	A	G	18: 31,966,876	L1651P	probably damaging	Het
Nhsl1	A	G	10: 18,408,355	S15G	probably benign	Het
Nos1ap	T	C	1: 170,338,118	D192G	probably benign	Het
Nrcam	A	G	12: 44,572,249	T844A	probably damaging	Het
Pax4	A	G	6: 28,444,841	L203P	probably damaging	Het
Pbld2	T	C	10: 63,076,433	I280T	probably benign	Het
Pclo	A	G	5: 14,788,406	Y4681C	unknown	Het
Phyhip	T	A	14: 70,461,760	M1K	probably null	Het
Plppr4	T	C	3: 117,322,841	N456D	probably damaging	Het
Prpf31	T	C	7: 3,640,857	Y473H	probably damaging	Het
Rapgef2	A	T	3: 79,092,749	V564D	probably damaging	Het
Rexo1	T	C	10: 80,542,751	S1123G	probably benign	Het
Rnasel	C	A	1: 153,756,013	Q513K	probably damaging	Het
Rnf165	G	A	18: 77,462,938	T98I	probably benign	Het
Rnf213	T	C	11: 119,441,888	V2641A	probably damaging	Het
Rnf40	G	T	7: 127,590,615	R184L	probably damaging	Het
Rnf8	A	G	17: 29,626,972	K179R	probably damaging	Het
Sipa1l2	C	T	8: 125,447,613	D1309N	possibly damaging	Het
Slc25a38	T	A	9: 120,123,703	M307K	possibly damaging	Het
Snx33	T	C	9: 56,926,182	D201G	possibly damaging	Het
Sulf1	T	A	1: 12,817,350	Y249*	probably null	Het
Sult2a4	G	A	7: 13,909,860	Q261*	probably null	Het
Syndig1	G	A	2: 150,003,234	A226T	probably damaging	Het
Tcaf2	C	T	6: 42,624,451	W891*	probably null	Het
Tcf15	C	A	2: 152,143,888	T88K	probably damaging	Het
Tmem19	A	T	10: 115,347,217	M117K	probably damaging	Het
Trim32	T	C	4: 65,614,004	L266P	probably benign	Het
Vmn2r11	T	C	5: 109,053,841	I266V	probably benign	Het
Vmn2r73	A	T	7: 85,870,278	Y491N	probably benign	Het
Wrn	C	T	8: 33,292,716	E486K	probably benign	Het
Zfp457	T	C	13: 67,293,437	E262G	probably damaging	Het
Zfp598	A	G	17: 24,678,629	D308G	probably null	Het
Zufsp	T	C	10: 33,927,440	I549M	probably damaging	Het

Other mutations in Erbb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Erbb4	APN	1	68071630	nonsense	probably null
IGL01020:Erbb4	APN	1	68298449	splice site	probably benign
IGL01349:Erbb4	APN	1	68346593	missense	probably benign	0.00
IGL01386:Erbb4	APN	1	68343931	missense	probably damaging	1.00
IGL01516:Erbb4	APN	1	68328245	nonsense	probably null
IGL01536:Erbb4	APN	1	68290282	missense	probably benign	0.00
IGL01721:Erbb4	APN	1	68254563	missense	possibly damaging	0.46
IGL01832:Erbb4	APN	1	68254566	missense	possibly damaging	0.84
IGL02002:Erbb4	APN	1	68080726	missense	probably damaging	1.00
IGL02040:Erbb4	APN	1	68042535	missense	probably damaging	1.00
IGL02371:Erbb4	APN	1	68290294	missense	probably benign	0.00
IGL02399:Erbb4	APN	1	68042437	splice site	probably benign
IGL02553:Erbb4	APN	1	68305864	missense	probably benign	0.17
IGL03118:Erbb4	APN	1	68042719	missense	probably benign	0.11
IGL03329:Erbb4	APN	1	68328122	missense	probably benign	0.30
IGL03405:Erbb4	APN	1	68330238	missense	probably benign	0.02
earthworm	UTSW	1	68250580	missense	possibly damaging	0.67
excrescence	UTSW	1	68330246	missense	probably damaging	1.00
Mole	UTSW	1	68560576	missense	probably damaging	1.00
P0018:Erbb4	UTSW	1	68071676	missense	probably benign	0.05
PIT4480001:Erbb4	UTSW	1	68075543	missense	probably damaging	1.00
R0193:Erbb4	UTSW	1	68043960	intron	probably benign
R0329:Erbb4	UTSW	1	68298280	splice site	probably benign
R0335:Erbb4	UTSW	1	68259259	missense	probably benign
R0362:Erbb4	UTSW	1	68330270	missense	probably damaging	0.99
R0579:Erbb4	UTSW	1	68042462	missense	probably benign	0.17
R0730:Erbb4	UTSW	1	68259290	missense	probably damaging	0.98
R1029:Erbb4	UTSW	1	68309614	missense	probably damaging	0.96
R1444:Erbb4	UTSW	1	68254600	missense	probably damaging	1.00
R1469:Erbb4	UTSW	1	68560682	missense	probably damaging	0.99
R1469:Erbb4	UTSW	1	68560682	missense	probably damaging	0.99
R1503:Erbb4	UTSW	1	68346546	missense	probably benign	0.00
R1528:Erbb4	UTSW	1	68078582	nonsense	probably null
R1604:Erbb4	UTSW	1	68346569	missense	possibly damaging	0.88
R1611:Erbb4	UTSW	1	68040388	missense	probably damaging	1.00
R1642:Erbb4	UTSW	1	68331234	missense	probably damaging	1.00
R1905:Erbb4	UTSW	1	68075410	splice site	probably benign
R1929:Erbb4	UTSW	1	68198888	missense	probably damaging	0.98
R2046:Erbb4	UTSW	1	68298323	missense	probably benign	0.02
R2139:Erbb4	UTSW	1	68346629	missense	probably damaging	0.96
R2271:Erbb4	UTSW	1	68198888	missense	probably damaging	0.98
R2298:Erbb4	UTSW	1	68042531	missense	probably damaging	1.00
R2356:Erbb4	UTSW	1	68078596	missense	probably benign	0.00
R3821:Erbb4	UTSW	1	68305913	missense	probably damaging	0.97
R4007:Erbb4	UTSW	1	68740401	missense	probably damaging	1.00
R4012:Erbb4	UTSW	1	68560576	missense	probably damaging	1.00
R4077:Erbb4	UTSW	1	68040337	missense	probably benign	0.07
R4196:Erbb4	UTSW	1	68343855	missense	possibly damaging	0.90
R4536:Erbb4	UTSW	1	68346622	missense	probably damaging	1.00
R4561:Erbb4	UTSW	1	68343921	nonsense	probably null
R4642:Erbb4	UTSW	1	68250632	missense	probably damaging	1.00
R4737:Erbb4	UTSW	1	68343900	missense	probably damaging	0.98
R4739:Erbb4	UTSW	1	68343900	missense	probably damaging	0.98
R4780:Erbb4	UTSW	1	68298314	missense	probably damaging	1.00
R4801:Erbb4	UTSW	1	68330246	missense	probably damaging	1.00
R4802:Erbb4	UTSW	1	68330246	missense	probably damaging	1.00
R4811:Erbb4	UTSW	1	68254544	missense	probably damaging	1.00
R4832:Erbb4	UTSW	1	68330238	missense	probably benign	0.02
R5068:Erbb4	UTSW	1	68043902	splice site	probably null
R5546:Erbb4	UTSW	1	68298293	missense	probably damaging	0.99
R5755:Erbb4	UTSW	1	68560519	missense	possibly damaging	0.96
R6189:Erbb4	UTSW	1	68043916	missense	probably benign
R6257:Erbb4	UTSW	1	68396273	missense	probably damaging	1.00
R6276:Erbb4	UTSW	1	68560576	missense	probably damaging	1.00
R6521:Erbb4	UTSW	1	68042530	missense	probably damaging	1.00
R6602:Erbb4	UTSW	1	68370503	missense	probably damaging	0.99
R6808:Erbb4	UTSW	1	68040303	missense	probably benign	0.00
R7087:Erbb4	UTSW	1	68740491	missense	probably null	1.00
R7215:Erbb4	UTSW	1	68339460	missense	probably benign
R7356:Erbb4	UTSW	1	68339355	critical splice donor site	probably null
R7509:Erbb4	UTSW	1	68250580	missense	possibly damaging	0.67
R7593:Erbb4	UTSW	1	68254599	missense	probably damaging	0.99
R7743:Erbb4	UTSW	1	68328119	missense	probably benign	0.00
R7784:Erbb4	UTSW	1	68075499	missense	probably damaging	1.00
R7815:Erbb4	UTSW	1	68042726	missense	probably damaging	1.00
R7923:Erbb4	UTSW	1	68259209	missense	probably damaging	1.00
R8071:Erbb4	UTSW	1	68396311	missense	probably damaging	1.00
R8288:Erbb4	UTSW	1	68298350	missense	probably damaging	1.00
R8356:Erbb4	UTSW	1	68071630	missense	probably damaging	1.00
R8456:Erbb4	UTSW	1	68071630	missense	probably damaging	1.00
R8464:Erbb4	UTSW	1	68309626	missense	probably benign
R8783:Erbb4	UTSW	1	68040172	missense	possibly damaging	0.95
R8830:Erbb4	UTSW	1	68075468	missense	probably damaging	1.00
R8881:Erbb4	UTSW	1	68343838	critical splice donor site	probably null
R9053:Erbb4	UTSW	1	68250620	missense	possibly damaging	0.63
R9142:Erbb4	UTSW	1	68349393	missense	probably damaging	1.00
R9237:Erbb4	UTSW	1	68042442	missense	possibly damaging	0.72
R9350:Erbb4	UTSW	1	68290479	missense	probably benign	0.00
R9374:Erbb4	UTSW	1	68740483	nonsense	probably null
R9434:Erbb4	UTSW	1	68042614	missense	possibly damaging	0.84
R9499:Erbb4	UTSW	1	68740483	nonsense	probably null
R9551:Erbb4	UTSW	1	68740483	nonsense	probably null
R9753:Erbb4	UTSW	1	68198903	missense	probably benign	0.00
X0019:Erbb4	UTSW	1	68073145	missense	probably benign	0.00
Z1176:Erbb4	UTSW	1	68298402	frame shift	probably null
Z1176:Erbb4	UTSW	1	68328259	nonsense	probably null
Z1177:Erbb4	UTSW	1	68259183	frame shift	probably null
Z1177:Erbb4	UTSW	1	68290476	missense	probably damaging	1.00
Z1177:Erbb4	UTSW	1	68309643	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CATTTCCAATGGGGCATTAGGGAGAA -3'
(R):5'- GGCTCCTACTGTGCCTAACATTGAAAA -3'

Sequencing Primer
(F):5'- acctgatttcaatccccattcc -3'
(R):5'- CTGTGCCTAACATTGAAAAAATGG -3'

Posted On

2014-04-13