Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02553:Erbb4'

298561

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02553

Quality Score

Status

Chromosome

Chromosomal Location

68071345-69147218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68345023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 566 (L566P)

Ref Sequence

ENSEMBL: ENSMUSP00000114123 (fasta)

Gene Model

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

AlphaFold

Q61527

Predicted Effect

probably benign
Transcript: ENSMUST00000119142
AA Change: L566P

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: L566P

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: L566P

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: L566P

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: L566P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000115373
Gene: ENSMUSG00000062209
AA Change: L566P

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,242,750 (GRCm39)	S1326P	probably damaging	Het
Alpk1	A	T	3: 127,466,970 (GRCm39)	L1103Q	probably damaging	Het
Arhgap11a	A	C	2: 113,667,906 (GRCm39)		probably benign	Het
Arl6ip6	A	G	2: 53,082,226 (GRCm39)	Y31C	possibly damaging	Het
Arpin	G	T	7: 79,577,395 (GRCm39)	D217E	possibly damaging	Het
Atp13a4	C	T	16: 29,241,521 (GRCm39)	V735I	probably benign	Het
Ccdc146	A	T	5: 21,502,631 (GRCm39)	F753L	probably benign	Het
Cdh3	T	A	8: 107,270,880 (GRCm39)	L511*	probably null	Het
Chrna1	A	T	2: 73,397,206 (GRCm39)	I361N	possibly damaging	Het
Clk2	G	A	3: 89,083,020 (GRCm39)	R432H	probably damaging	Het
Col9a1	T	C	1: 24,261,018 (GRCm39)		probably benign	Het
Cstf1	G	T	2: 172,219,774 (GRCm39)	R295L	probably benign	Het
Dsg2	A	G	18: 20,725,467 (GRCm39)	D526G	probably damaging	Het
Dsg4	T	A	18: 20,595,577 (GRCm39)	H593Q	probably benign	Het
Dysf	T	C	6: 84,107,109 (GRCm39)	Y1171H	possibly damaging	Het
Fam185a	T	A	5: 21,660,829 (GRCm39)	D281E	probably damaging	Het
Fam185a	T	A	5: 21,634,839 (GRCm39)		probably benign	Het
Fam91a1	T	A	15: 58,304,831 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,202,109 (GRCm39)	W322R	probably damaging	Het
Fbxw8	T	A	5: 118,204,125 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,288,615 (GRCm39)	T874A	probably benign	Het
Gm3543	T	C	14: 41,802,048 (GRCm39)	I145M	probably benign	Het
Gtf2i	G	A	5: 134,274,015 (GRCm39)	T712I	probably damaging	Het
Hk1	A	G	10: 62,131,552 (GRCm39)	S268P	possibly damaging	Het
Hmcn1	A	G	1: 150,868,774 (GRCm39)	V10A	probably benign	Het
Hsd17b4	C	T	18: 50,295,164 (GRCm39)		probably benign	Het
Ighv1-75	A	T	12: 115,797,725 (GRCm39)	W66R	probably damaging	Het
Kif21b	G	T	1: 136,081,859 (GRCm39)	D636Y	probably damaging	Het
Kif5b	A	T	18: 6,220,914 (GRCm39)	I398N	probably benign	Het
Metap2	T	C	10: 93,701,311 (GRCm39)	M165V	probably damaging	Het
Mterf2	A	C	10: 84,956,331 (GRCm39)	L98V	probably damaging	Het
Muc16	A	G	9: 18,409,849 (GRCm39)		probably null	Het
Myo3b	A	G	2: 69,925,568 (GRCm39)	M12V	probably benign	Het
Nat10	C	A	2: 103,583,013 (GRCm39)	R136I	probably damaging	Het
Nsd2	T	G	5: 34,003,542 (GRCm39)	S231A	probably damaging	Het
Or4a71	T	C	2: 89,358,275 (GRCm39)	T160A	probably benign	Het
Or4k37	A	T	2: 111,159,333 (GRCm39)	M190L	probably benign	Het
Pcdhb14	T	A	18: 37,581,071 (GRCm39)	L59*	probably null	Het
Pias4	A	G	10: 80,999,621 (GRCm39)	L144P	probably damaging	Het
Plxna2	T	A	1: 194,433,746 (GRCm39)	N598K	probably benign	Het
Polq	A	G	16: 36,862,130 (GRCm39)	Y550C	probably damaging	Het
Pot1b	T	A	17: 56,002,024 (GRCm39)		probably benign	Het
Proz	T	C	8: 13,115,260 (GRCm39)	V92A	probably benign	Het
Rab4a	T	C	8: 124,550,561 (GRCm39)	F14L	probably benign	Het
Riok3	T	A	18: 12,276,073 (GRCm39)	C256*	probably null	Het
Slc6a1	T	A	6: 114,279,451 (GRCm39)		probably benign	Het
Socs5	C	T	17: 87,442,419 (GRCm39)	T453M	probably damaging	Het
Spata3	T	C	1: 85,952,211 (GRCm39)	L135P	probably damaging	Het
Spata46	A	G	1: 170,139,534 (GRCm39)	K178E	probably damaging	Het
Spr	T	C	6: 85,114,430 (GRCm39)	N100D	probably damaging	Het
Srrm4	C	T	5: 116,582,624 (GRCm39)		probably benign	Het
Stard3	T	C	11: 98,267,389 (GRCm39)	F169S	possibly damaging	Het
Tbx1	T	A	16: 18,402,847 (GRCm39)	D222V	probably damaging	Het
Trbv23	C	T	6: 41,193,279 (GRCm39)	Q56*	probably null	Het
Tsc22d1	A	G	14: 76,654,838 (GRCm39)	N357S	possibly damaging	Het
Ugt1a6a	C	T	1: 88,066,811 (GRCm39)	P206S	probably benign	Het
Utp20	A	G	10: 88,600,657 (GRCm39)	V19A	probably damaging	Het
Vps13b	A	G	15: 35,646,447 (GRCm39)	N1517S	probably benign	Het
Washc2	T	C	6: 116,218,571 (GRCm39)	I672T	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
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
R7815:Erbb4	UTSW	1	68,081,885 (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

Posted On

2015-04-16