Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:Erbb4'

26139

Institutional Source

Beutler Lab

Gene Symbol

Erbb4

Ensembl Gene

ENSMUSG00000062209

Gene Name

erb-b2 receptor tyrosine kinase 4

Synonyms

Her4, ErbB4

MMRRC Submission

038544-MU

Accession Numbers

Ncbi RefSeq: NM_010154.1; MGI:104771

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0335 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

68032186-69108059 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68259259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 657 (M657I)

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: M667I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: M667I

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: M667I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: M667I

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: M657I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115373
Gene: ENSMUSG00000062209
AA Change: M657I

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

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830406C13Rik	A	G	14: 12,301,266	E124G	possibly damaging	Het
4932438A13Rik	T	C	3: 36,969,152	V2210A	probably damaging	Het
Adamts12	G	T	15: 11,311,058	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,236,828	T460A	probably benign	Het
Amer3	A	C	1: 34,579,300		probably benign	Het
Arhgap22	C	T	14: 33,359,108		probably benign	Het
Arhgap32	T	G	9: 32,259,760	S1279A	probably benign	Het
Bcas1	G	A	2: 170,418,681	T26M	probably damaging	Het
Begain	A	T	12: 109,038,934	F256I	probably damaging	Het
Cabin1	A	T	10: 75,657,049	I1804N	probably damaging	Het
Cad	G	A	5: 31,073,985		probably benign	Het
Carmil1	G	A	13: 24,073,983	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,492,977	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,549		probably null	Het
Clip2	T	A	5: 134,535,215		probably benign	Het
Cmip	T	C	8: 117,445,366	I480T	probably damaging	Het
Cnot1	A	T	8: 95,772,000	I203K	probably benign	Het
Col18a1	G	A	10: 77,059,363	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956		probably benign	Het
Crybg3	A	T	16: 59,544,140	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 24,887,877	I935F	probably damaging	Het
Dapl1	T	A	2: 59,496,594	D61E	possibly damaging	Het
Def6	A	G	17: 28,228,069	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,069,399		probably benign	Het
Dvl2	G	A	11: 70,001,035		probably benign	Het
Ecd	A	C	14: 20,320,734	V639G	probably benign	Het
Epg5	C	T	18: 77,986,472	T1350M	probably benign	Het
Evi5	T	C	5: 107,812,411	R431G	probably benign	Het
Fbxo11	G	A	17: 88,015,613	A115V	possibly damaging	Het
Fgfr2	T	C	7: 130,196,249	T192A	probably benign	Het
Gas7	C	T	11: 67,662,052	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,356,182	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048	Q41H	probably null	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm7535	A	G	17: 17,911,112		probably benign	Het
Gstm1	T	A	3: 108,012,696	N193I	possibly damaging	Het
Heatr5b	G	A	17: 78,827,946	P252L	probably benign	Het
Hmgb1	A	G	5: 149,050,631	V36A	probably benign	Het
Hrh1	G	T	6: 114,480,232	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,406,674	M53V	probably benign	Het
Iqgap2	T	A	13: 95,635,633	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,587,737	N433K	possibly damaging	Het
Kif1a	T	A	1: 93,052,566		probably benign	Het
Lctl	C	A	9: 64,118,887	Q75K	probably benign	Het
Ldb3	T	A	14: 34,578,651	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,677,095	L156Q	probably damaging	Het
Mark2	G	T	19: 7,281,828	T83K	probably benign	Het
Ms4a15	A	T	19: 10,980,210	D170E	probably damaging	Het
Msantd2	A	G	9: 37,522,760	S99G	possibly damaging	Het
Nemf	G	T	12: 69,353,803	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,394,136	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,804,773	I567V	probably benign	Het
Olfr111	A	C	17: 37,530,642	I222L	probably benign	Het
Olfr1340	A	G	4: 118,727,170	I308V	probably null	Het
Olfr323	T	C	11: 58,625,740	Y102C	probably damaging	Het
Olfr828	T	A	9: 18,815,994	Q100L	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Pdk4	T	C	6: 5,491,138	E209G	probably benign	Het
Plch1	T	C	3: 63,710,978	Q712R	probably damaging	Het
Pnpla1	T	A	17: 28,886,878	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,719,258	D134V	probably damaging	Het
Ptov1	T	A	7: 44,864,622	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,708,728	I314V	probably benign	Het
Rabl2	T	C	15: 89,583,966	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,682,091	W191R	probably damaging	Het
Sec22b	T	A	3: 97,921,256	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,688,715		probably null	Het
Sept2	T	C	1: 93,495,599	S51P	probably damaging	Het
Serpinb1a	T	C	13: 32,848,656	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,743,863	T206I	probably benign	Het
Slc25a19	C	A	11: 115,624,206	R42L	probably damaging	Het
St14	G	A	9: 31,091,324		probably benign	Het
Stxbp1	C	T	2: 32,802,905		probably benign	Het
Tas2r131	C	T	6: 132,957,829	V6I	probably benign	Het
Tdo2	T	A	3: 81,964,000	M235L	probably benign	Het
Tenm3	T	G	8: 48,232,105	H2432P	probably damaging	Het
Tmprss15	C	T	16: 79,024,742		probably benign	Het
Tmx1	A	G	12: 70,453,256	N30D	probably benign	Het
Tom1	A	G	8: 75,064,392		probably null	Het
Top2a	T	C	11: 99,022,955	N20S	probably benign	Het
Ttc23l	T	A	15: 10,539,963	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 90,022,659	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,797,451		probably null	Het
Vps11	T	C	9: 44,353,838	Q641R	probably null	Het
Wapl	T	A	14: 34,692,324	I381N	probably damaging	Het
Zmym6	G	A	4: 127,122,808	G794E	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
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
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'- TCCTTAGACACATGCTGGCTCTACA -3'
(R):5'- GCTTTATTACAGCCCTGGTGGCTTT -3'

Sequencing Primer
(F):5'- gaagtgggagtggttggg -3'
(R):5'- CAGCCCTGGTGGCTTTTTATTTG -3'

Posted On

2013-04-16