Mutagenetix > Incidental Mutation

Incidental Mutation 'R7743:Erbb4'

596631

Institutional Source

Beutler Lab

Gene Symbol

Erbb4

Ensembl Gene

ENSMUSG00000062209

Gene Name

erb-b2 receptor tyrosine kinase 4

Synonyms

Her4, ErbB4

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_010154.1; MGI:104771

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7743 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68032186-69108059 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68328119 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 480 (T480A)

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: T480A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: T480A

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: T480A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: T480A

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: T480A

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

SMART Domains

Protein: ENSMUSP00000115373
Gene: ENSMUSG00000062209
AA Change: T480A

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: 99.3%

Validation Efficiency

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,755	E1235G	probably damaging	Het
Adam6a	A	G	12: 113,544,532	D175G	probably benign	Het
Adgrf4	A	T	17: 42,672,562	C76*	probably null	Het
Agbl3	C	T	6: 34,846,830	T815I	probably damaging	Het
Ahnak2	A	G	12: 112,784,763	V488A	not run	Het
Akip1	T	A	7: 109,711,828	S192T	probably benign	Het
Apc2	G	A	10: 80,304,915	M201I	probably damaging	Het
Arel1	G	T	12: 84,940,269	N124K	probably damaging	Het
Atp10a	A	T	7: 58,803,709	H845L	probably damaging	Het
Atp2a2	A	G	5: 122,461,571	Y586H	probably benign	Het
BC051019	A	G	7: 109,716,059	Y330H	probably damaging	Het
Btbd11	A	T	10: 85,624,949	I569F	possibly damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Chek2	T	G	5: 110,840,050		probably null	Het
Cldn14	A	G	16: 93,919,727	L77S	probably damaging	Het
Cox15	T	C	19: 43,739,941	K298E	possibly damaging	Het
Cpt1b	G	T	15: 89,421,404	D369E	probably benign	Het
Cpxm1	T	C	2: 130,393,422	N550S	probably benign	Het
Csdc2	A	G	15: 81,949,198	E132G	possibly damaging	Het
Cyb5d2	A	T	11: 72,778,876	C219S	probably damaging	Het
Fndc1	G	A	17: 7,765,137	T1319I	unknown	Het
Gm5773	T	G	3: 93,773,258	V79G	probably damaging	Het
Hsf2	G	A	10: 57,511,335		probably null	Het
Itgb2l	T	C	16: 96,437,408	T64A	probably damaging	Het
Kifc5b	T	C	17: 26,924,202	V316A	probably damaging	Het
Ktn1	A	G	14: 47,670,293	D279G	probably damaging	Het
Lonrf1	T	C	8: 36,249,052	E143G	possibly damaging	Het
Mroh9	C	T	1: 163,024,553	E856K	probably benign	Het
Muc16	T	C	9: 18,657,477	T1249A	unknown	Het
Myh6	G	A	14: 54,957,150	R721W	probably damaging	Het
Myo6	A	T	9: 80,276,329	I669F	unknown	Het
N4bp2	A	G	5: 65,808,459	T1284A	probably damaging	Het
Npr3	A	G	15: 11,905,638	M1T	probably null	Het
Obscn	C	T	11: 59,099,777	V1657M	probably damaging	Het
Olfr243	A	G	7: 103,717,353	E253G	possibly damaging	Het
Olfr551	A	T	7: 102,588,431	F104Y	probably benign	Het
Olfr908	A	G	9: 38,516,328	T99A	possibly damaging	Het
Otud6b	C	A	4: 14,818,389	A171S	possibly damaging	Het
Pdcd2l	A	C	7: 34,192,831	D204E	probably benign	Het
Pdia2	T	C	17: 26,198,868	S56G	probably benign	Het
Plcxd1	G	A	5: 110,102,503	E237K	possibly damaging	Het
Plekha5	A	T	6: 140,555,986	R633S	probably damaging	Het
Pnpla6	T	C	8: 3,536,594	F937L	possibly damaging	Het
Pth2	A	T	7: 45,181,309	M6L	probably benign	Het
Ptprd	T	A	4: 76,086,089	K143I	probably damaging	Het
Rhbdf2	T	C	11: 116,601,601	D487G	probably benign	Het
Rhbdf2	A	T	11: 116,603,949	D300E	probably benign	Het
Rock2	G	A	12: 16,976,047	V1265I	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,579,932		probably benign	Het
Rtn4	T	A	11: 29,733,790	Y1027*	probably null	Het
Rxfp3	A	G	15: 11,037,130	L52P	probably damaging	Het
Sel1l3	A	G	5: 53,135,885	Y830H	probably benign	Het
Serpinb3d	C	T	1: 107,079,358	V207I	probably damaging	Het
Sipa1l2	T	C	8: 125,464,233	E1006G	probably damaging	Het
Slc22a19	C	T	19: 7,683,836	M324I	possibly damaging	Het
Slc37a1	T	A	17: 31,316,185	F106I	probably damaging	Het
Snx14	A	T	9: 88,398,349	S518T	probably benign	Het
Sp2	T	C	11: 96,961,109	T330A	probably damaging	Het
Spata13	A	T	14: 60,756,249	H1050L	probably damaging	Het
Sptssa	A	C	12: 54,656,416	V23G	possibly damaging	Het
Syt3	A	T	7: 44,392,667	I317F	probably damaging	Het
Tars	A	C	15: 11,399,372		probably null	Het
Tead3	T	A	17: 28,332,827	T431S	probably benign	Het
Tiam2	G	A	17: 3,518,156	E1526K	possibly damaging	Het
Tnni3	G	A	7: 4,521,892	P12L	probably benign	Het
Topaz1	A	G	9: 122,785,136	H1207R	probably benign	Het
Trdn	G	T	10: 33,257,062	E107*	probably null	Het
Trp63	A	G	16: 25,882,625	N483S	probably benign	Het
Trpm4	A	G	7: 45,308,338	S1009P	probably benign	Het
Trpm6	T	C	19: 18,827,408	V908A	probably benign	Het
Tsen34	A	T	7: 3,694,602	M25L	possibly damaging	Het
Ttn	T	C	2: 76,951,483	E1073G	unknown	Het
Uaca	A	T	9: 60,876,395	I1380F	probably damaging	Het
Ubr3	A	G	2: 69,944,449	T539A	probably benign	Het
Ugt1a5	T	A	1: 88,166,395	M115K	probably benign	Het
Unc45b	A	T	11: 82,922,900	I378F	probably damaging	Het
Unk	G	A	11: 116,049,436	R205Q	possibly damaging	Het
Ush2a	T	A	1: 188,810,179	L3314Q	probably benign	Het
Vezt	A	G	10: 93,980,424	L475P	probably damaging	Het
Vmn2r115	C	T	17: 23,345,798	Q220*	probably null	Het
Yap1	T	C	9: 7,962,378	Q223R	probably benign	Het
Zdhhc7	G	A	8: 120,086,728	T114M	possibly damaging	Het
Zwilch	A	C	9: 64,152,935	C374G	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
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
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'- CATTGGCCAGAATGTGAAGAC -3'
(R):5'- AGGTCCCGAATTATGCATTTTCC -3'

Sequencing Primer
(F):5'- CCAGAATGTGAAGACAGACTATATTC -3'
(R):5'- GTCCCGAATTATGCATTTTCCATTTC -3'

Posted On

2019-11-26