Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Erbb4'

372867

Institutional Source

Beutler Lab

Gene Symbol

Erbb4

Ensembl Gene

ENSMUSG00000062209

Gene Name

erb-b2 receptor tyrosine kinase 4

Synonyms

Her4, ErbB4

MMRRC Submission

042448-MU

Accession Numbers

Ncbi RefSeq: NM_010154.1; MGI:104771

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68032186-69108059 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68330238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 415 (S415G)

Ref Sequence

ENSEMBL: ENSMUSP00000115373 (fasta)

Gene Model

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

AlphaFold

Q61527

Predicted Effect

probably benign
Transcript: ENSMUST00000119142
AA Change: S415G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: S415G

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 benign
Transcript: ENSMUST00000121473
AA Change: S415G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: S415G

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

noncoding transcript
Transcript: ENSMUST00000126682

Predicted Effect

probably benign
Transcript: ENSMUST00000153432
AA Change: S415G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000115373
Gene: ENSMUSG00000062209
AA Change: S415G

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

0.1360

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,870,264	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,135,209	M198K	probably damaging	Het
4931406P16Rik	T	C	7: 34,238,908		probably benign	Het
4933402J07Rik	A	G	8: 87,567,973	K84R	probably null	Het
9930021J03Rik	G	T	19: 29,717,216	L1626I	possibly damaging	Het
A530099J19Rik	T	A	13: 19,729,670		noncoding transcript	Het
Aamdc	T	C	7: 97,550,566		probably null	Het
Abcc9	A	G	6: 142,671,556	V594A	probably damaging	Het
Adamts13	G	A	2: 26,989,402	D656N	probably benign	Het
Adcy10	G	T	1: 165,506,644	C122F	probably damaging	Het
Adi1	A	G	12: 28,675,253	M1V	probably null	Het
Ahnak	G	A	19: 9,012,460		probably benign	Het
Akt1	G	T	12: 112,657,087	P313Q	probably damaging	Het
Ano3	A	T	2: 110,667,722	M758K	probably damaging	Het
Baz2a	T	A	10: 128,123,130	N1168K	probably benign	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Bcap29	A	G	12: 31,624,203	I131T	probably benign	Het
Btnl6	T	C	17: 34,513,992	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,500,567	I73T	probably benign	Het
Cdh2	A	G	18: 16,627,697	S538P	probably benign	Het
Cfap54	T	A	10: 92,967,528	M1551L	probably benign	Het
Chd2	G	A	7: 73,502,125	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,183,019	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,484,998	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,496,178	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,835,545		probably null	Het
Dab2	A	G	15: 6,336,599		probably null	Het
Dnah17	T	A	11: 118,026,780	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,474,679		probably null	Het
Dpp7	A	T	2: 25,352,386		probably benign	Het
Epha6	T	A	16: 59,960,413	I642F	probably damaging	Het
Fancd2	A	G	6: 113,553,722	T439A	probably benign	Het
Fat1	G	A	8: 45,013,065	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,090,248	A884T	probably benign	Het
Fsip2	A	G	2: 82,990,171	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,991,852		probably benign	Het
Gm11544	C	T	11: 94,845,706		noncoding transcript	Het
Gnat2	A	C	3: 108,100,648	K304Q	probably benign	Het
Gramd4	C	T	15: 86,134,856	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,539,295	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,260,222	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,284,327	T315I	probably damaging	Het
Haus5	A	T	7: 30,657,027	F524I	probably damaging	Het
Herc1	A	G	9: 66,495,971	S4391G	probably benign	Het
Herc2	T	A	7: 56,098,417	L511*	probably null	Het
Htt	T	A	5: 34,824,840	C923S	probably benign	Het
Idua	T	C	5: 108,669,381	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,068,846	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,271,201	K98R	probably benign	Het
Kif15	G	A	9: 123,002,126		probably null	Het
Leng9	C	A	7: 4,149,030	G216W	probably damaging	Het
Lrpprc	A	G	17: 84,707,156	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,715,389	E20D	possibly damaging	Het
Maob	T	C	X: 16,716,423	T400A	probably benign	Het
Map3k4	C	T	17: 12,271,780	E255K	probably damaging	Het
Megf9	G	A	4: 70,534,428	T132M	probably damaging	Het
Mob4	T	C	1: 55,145,252		probably benign	Het
Mttp	G	A	3: 138,116,050	A252V	probably benign	Het
Mxi1	A	G	19: 53,370,314	D226G	probably damaging	Het
Myh14	A	G	7: 44,625,142	S1249P	probably benign	Het
Mylk	G	A	16: 34,922,367	G1083D	probably benign	Het
Mylk4	T	G	13: 32,721,977	I408L	probably benign	Het
Nbas	A	G	12: 13,483,739	S1792G	probably benign	Het
Nelfb	A	G	2: 25,209,969	V212A	probably damaging	Het
Nisch	T	C	14: 31,177,630		probably benign	Het
Nqo1	C	G	8: 107,388,845	D267H	probably benign	Het
Olfr1037	C	A	2: 86,084,846	L310F	probably benign	Het
Pcid2	T	A	8: 13,085,425	I195F	probably damaging	Het
Pcnx2	A	T	8: 125,752,188	M2107K	probably damaging	Het
Pgd	A	T	4: 149,156,591		probably benign	Het
Prim2	T	C	1: 33,464,064	M430V	probably benign	Het
Prkaa1	A	G	15: 5,160,620	T40A	probably damaging	Het
Ptges	T	C	2: 30,903,220		probably benign	Het
Ptprn	T	C	1: 75,258,265	E226G	probably benign	Het
Rab14	A	G	2: 35,189,966	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,857,067		probably benign	Het
Rgs11	C	T	17: 26,207,568	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,376,349		probably null	Het
Rprd2	A	T	3: 95,774,171	V452E	probably damaging	Het
Scube3	C	A	17: 28,166,015	H646Q	probably damaging	Het
Selp	A	T	1: 164,126,340	I70F	probably damaging	Het
Sept2	A	G	1: 93,499,127	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,814,083	S170N	probably benign	Het
Skint4	A	T	4: 112,143,766	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,680,380	I41T	possibly damaging	Het
Snai2	T	C	16: 14,707,017	F129S	probably damaging	Het
Top3b	C	T	16: 16,890,662	R629*	probably null	Het
Trim17	T	A	11: 58,971,444	V434E	probably damaging	Het
Ttn	G	A	2: 76,784,983	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,001,847	I1391N	probably damaging	Het
Usp8	A	T	2: 126,755,038	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,835,038	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,113,989	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,216,110	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,605,540	I237T	probably damaging	Het
Zan	T	A	5: 137,393,161	D4687V	unknown	Het
Zfp273	T	C	13: 67,825,365	V204A	probably benign	Het
Zfp956	T	G	6: 47,952,053		probably benign	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
R1523:Erbb4	UTSW	1	68396252	missense	possibly damaging	0.95
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
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'- TTTCAGGAGGCTCATCTTCAG -3'
(R):5'- AAAACATGGATTCTTGGTGTCGC -3'

Sequencing Primer
(F):5'- GGAGGCTCATCTTCAGAATTAATCAG -3'
(R):5'- CTTGGTGTCGCTCTTTAATAATA -3'

Posted On

2016-03-01