Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Erbb4'

176768

Institutional Source

Beutler Lab

Gene Symbol

Erbb4

Ensembl Gene

ENSMUSG00000062209

Gene Name

erb-b2 receptor tyrosine kinase 4

Synonyms

Her4, ErbB4

MMRRC Submission

039648-MU

Accession Numbers

Ncbi RefSeq: NM_010154.1; MGI:104771

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1611 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68032186-69108059 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68040388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 1178 (G1178C)

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: G1194C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: G1194C

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: G1178C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: G1178C

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

Meta Mutation Damage Score

0.1343

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	G	A	1: 136,216,117	P527L	probably damaging	Het
Acsl6	A	T	11: 54,325,564	I186F	possibly damaging	Het
Actr6	T	A	10: 89,732,202	K14*	probably null	Het
Adgrv1	A	T	13: 81,559,117	V1390E	probably damaging	Het
Akap1	C	T	11: 88,845,278	R186K	probably benign	Het
Alg10b	T	A	15: 90,225,781	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,442,852	G407S	probably damaging	Het
Atp9a	T	C	2: 168,673,569	M401V	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bclaf1	T	C	10: 20,323,252		probably benign	Het
Bcr	T	A	10: 75,125,202		probably null	Het
Bivm	T	C	1: 44,126,747	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,381,471	I1632T	probably damaging	Het
Capn9	G	A	8: 124,611,512	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,641,575		probably benign	Het
Cdk18	T	A	1: 132,122,375	I21F	probably damaging	Het
Cep85l	T	C	10: 53,348,681	T271A	probably benign	Het
Chrm5	T	C	2: 112,479,187	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,361,828		probably benign	Het
Cpt1c	T	C	7: 44,960,112	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,249,303	Y64C	unknown	Het
Ddb1	T	A	19: 10,626,764		probably null	Het
Ddb1	T	A	19: 10,612,888	C260S	probably damaging	Het
Ddx58	T	C	4: 40,223,862	Y339C	probably damaging	Het
Depdc5	C	A	5: 32,990,953	Q1478K	probably damaging	Het
Diaph1	A	C	18: 37,900,702	M247R	unknown	Het
Dusp8	T	C	7: 142,082,957	S299G	probably benign	Het
Exoc7	A	T	11: 116,295,265	I370N	possibly damaging	Het
Fam120a	G	T	13: 48,885,743	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843	Y27*	probably null	Het
Gnl1	C	T	17: 35,987,549	T395I	probably damaging	Het
Hpse2	G	A	19: 42,789,065	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,009,899	I116V	probably benign	Het
Kif24	A	T	4: 41,423,552	V233E	probably benign	Het
Klhl5	A	G	5: 65,164,649	T673A	probably benign	Het
Kmt2c	C	A	5: 25,359,311		probably null	Het
Lipg	T	C	18: 74,948,059	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,577,218	L109Q	probably null	Het
Lyst	A	G	13: 13,634,897	E384G	probably damaging	Het
Micalcl	T	A	7: 112,381,464	I105N	probably damaging	Het
Muc4	C	T	16: 32,750,986	T288I	possibly damaging	Het
Naa35	G	T	13: 59,628,933	R574L	probably benign	Het
Ncor2	T	C	5: 125,110,020		probably benign	Het
Nedd9	T	A	13: 41,316,930	D249V	probably benign	Het
Nsg1	T	A	5: 38,138,716	K38*	probably null	Het
Nup155	T	A	15: 8,130,160	D518E	probably damaging	Het
Olfr152	T	A	2: 87,782,624	I28N	probably benign	Het
Ovol1	T	A	19: 5,551,070	H231L	probably damaging	Het
Parg	A	G	14: 32,238,570	I586V	probably damaging	Het
Pde7b	T	C	10: 20,434,490	N242S	probably benign	Het
Pias3	T	A	3: 96,699,697		probably null	Het
Pramef12	A	T	4: 144,392,812	V395E	probably benign	Het
Ptprf	A	G	4: 118,236,233	V404A	probably benign	Het
Rnf145	T	C	11: 44,551,798	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,570,852	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,653,505	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,492,874	I213T	possibly damaging	Het
Sil1	A	T	18: 35,269,088	V331E	possibly damaging	Het
Ski	A	G	4: 155,159,938	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,420,379	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,533,377	E75G	probably benign	Het
Sp1	T	A	15: 102,430,935	I436N	probably damaging	Het
Taf4b	A	T	18: 14,844,469	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,956,737		probably benign	Het
Vmn2r1	T	A	3: 64,104,537	C606*	probably null	Het
Wdr63	T	C	3: 146,095,358	Y115C	probably damaging	Het
Zfp341	C	A	2: 154,645,703	H702Q	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
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
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'- GGTTCCAGTAGTCGGGGTTGTCA -3'
(R):5'- TGTATTCATGCTTACGTCTGTGCGTT -3'

Sequencing Primer
(F):5'- AGTCGGGGTTGTCAAATGC -3'
(R):5'- tgggaaccaaacttgggc -3'

Posted On

2014-04-24