Mutagenetix > Incidental Mutation

Incidental Mutation 'R8288:Erbb4'

638509

Institutional Source

Beutler Lab

Gene Symbol

Erbb4

Ensembl Gene

ENSMUSG00000062209

Gene Name

erb-b2 receptor tyrosine kinase 4

Synonyms

Her4, ErbB4

MMRRC Submission

067710-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68071345-69147218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68337509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 603 (F603S)

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: F603S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: F603S

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: F603S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: F603S

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

possibly damaging
Transcript: ENSMUST00000153432
AA Change: F603S

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115373
Gene: ENSMUSG00000062209
AA Change: F603S

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	C	T	8: 23,283,153 (GRCm39)	A200T	probably benign	Het
Arpp19	T	C	9: 74,944,914 (GRCm39)	M1T	probably null	Het
Baiap2	T	A	11: 119,888,465 (GRCm39)	V407E	probably damaging	Het
Cdh18	A	G	15: 23,446,073 (GRCm39)	T508A	probably damaging	Het
Cnnm3	C	A	1: 36,551,074 (GRCm39)	A28E	possibly damaging	Het
Cpb1	A	T	3: 20,319,531 (GRCm39)	C184*	probably null	Het
Ddb1	T	C	19: 10,585,712 (GRCm39)	V142A	probably benign	Het
Disp2	T	C	2: 118,620,762 (GRCm39)	V498A	probably damaging	Het
Dmgdh	T	C	13: 93,845,332 (GRCm39)	Y442H	probably damaging	Het
Dync2i1	A	G	12: 116,177,345 (GRCm39)	F811S	probably damaging	Het
Eef2k	T	A	7: 120,502,604 (GRCm39)	M722K	probably damaging	Het
Filip1l	C	T	16: 57,390,917 (GRCm39)	R502C	probably damaging	Het
Gbp9	C	T	5: 105,253,599 (GRCm39)	V39M	probably damaging	Het
Gm17079	T	C	14: 51,931,815 (GRCm39)	Y98C		Het
Gstz1	A	G	12: 87,194,604 (GRCm39)	M1V	probably null	Het
Hsd17b13	T	G	5: 104,111,701 (GRCm39)	I281L	probably benign	Het
Hydin	A	G	8: 111,233,661 (GRCm39)	E1833G	probably damaging	Het
Irs1	G	A	1: 82,265,682 (GRCm39)	Q845*	probably null	Het
Kctd11	C	T	11: 69,770,883 (GRCm39)	G52R	probably damaging	Het
Kit	T	C	5: 75,815,149 (GRCm39)	S962P	probably damaging	Het
Lrrn1	C	T	6: 107,543,955 (GRCm39)		probably benign	Het
Mastl	T	C	2: 23,023,371 (GRCm39)	K451E	probably damaging	Het
Mptx2	A	G	1: 173,102,356 (GRCm39)	V111A	probably benign	Het
Nuak2	G	T	1: 132,255,579 (GRCm39)	C178F	probably damaging	Het
Pah	G	A	10: 87,374,047 (GRCm39)	R71H	probably benign	Het
Pclo	C	A	5: 14,762,885 (GRCm39)	T501K		Het
Pla2g4e	C	T	2: 120,018,990 (GRCm39)		probably null	Het
Polq	A	G	16: 36,848,272 (GRCm39)	E293G	probably damaging	Het
Rptor	G	A	11: 119,748,763 (GRCm39)	E782K	probably benign	Het
Scn7a	T	A	2: 66,506,318 (GRCm39)	R1524W	probably damaging	Het
Slc4a5	T	C	6: 83,203,237 (GRCm39)	S46P	probably benign	Het
Srcap	T	A	7: 127,130,528 (GRCm39)	I664N	probably damaging	Het
Stk24	A	C	14: 121,530,841 (GRCm39)	F372V	possibly damaging	Het
Szt2	T	C	4: 118,246,973 (GRCm39)	S881G	probably damaging	Het
Trim40	T	C	17: 37,194,210 (GRCm39)	D161G	probably benign	Het
Trip11	T	C	12: 101,860,643 (GRCm39)	H234R	possibly damaging	Het
Trpc1	T	C	9: 95,603,434 (GRCm39)	K366R	probably damaging	Het
Ugt2b35	T	C	5: 87,149,316 (GRCm39)	L189P	probably damaging	Het
Unc80	A	G	1: 66,512,509 (GRCm39)	S140G	probably benign	Het
Zfp446	A	G	7: 12,711,885 (GRCm39)	E36G	probably benign	Het
Zfp738	T	A	13: 67,818,908 (GRCm39)	H361L	possibly 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
IGL02553:Erbb4	APN	1	68,345,023 (GRCm39)	missense	probably benign	0.17
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGGGTACATAGATGGCATCG -3'
(R):5'- GTGCTGGTTATACTTCAATAGCC -3'

Sequencing Primer
(F):5'- TACATAGATGGCATCGTGGAAAATG -3'
(R):5'- CCCTTAGAGGAGAATAAACTTGTCC -3'

Posted On

2020-07-28