Mutagenetix > Incidental Mutations

Incidental Mutation 'R2002:Erbb3'

223218

Institutional Source

Beutler Lab

Gene Symbol

Erbb3

Ensembl Gene

ENSMUSG00000018166

Gene Name

erb-b2 receptor tyrosine kinase 3

Synonyms

Erbb-3, Erbb3r, HER3

MMRRC Submission

040012-MU

Accession Numbers

Ncbi RefSeq: NM_010153.1; MGI:95411

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128567523-128589652 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128586225 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 50 (Y50C)

Ref Sequence

ENSEMBL: ENSMUSP00000080716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082059]

Predicted Effect

probably benign
Transcript: ENSMUST00000082059
AA Change: Y50C

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

SMART Domains

Protein: ENSMUSP00000080716
Gene: ENSMUSG00000018166
AA Change: Y50C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Recep_L_domain	55	167	2.4e-31	PFAM
FU	180	220	5.83e0	SMART
FU	223	265	7.63e-10	SMART
Pfam:Recep_L_domain	353	474	7.5e-33	PFAM
FU	490	541	7.82e-7	SMART
FU	546	595	1.34e-5	SMART
FU	607	643	9.24e0	SMART
TyrKc	707	963	7.42e-91	SMART
low complexity region	997	1018	N/A	INTRINSIC
low complexity region	1113	1124	N/A	INTRINSIC
low complexity region	1135	1148	N/A	INTRINSIC
low complexity region	1172	1185	N/A	INTRINSIC
low complexity region	1186	1196	N/A	INTRINSIC
low complexity region	1201	1213	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184111

Meta Mutation Damage Score

0.1584

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

MGI Phenotype

Strain: 3513098; 1929072; 1928828; 1929598
Lethality: E10-E14
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a lack of Schwann-cell precursors leading to loss of sensory and motor neurons, hypoplasia of the primary sympathetic ganglion chain, cardiac defects, impaired brain development, and embryonic lethality. [provided by MGI curators]

Allele List at MGI

All alleles(27) : Targeted(11) Gene trapped(14) Chemically induced(2)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,625,606		noncoding transcript	Het
Abcb4	T	A	5: 8,905,989	S98T	probably benign	Het
Acan	T	C	7: 79,100,793	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,315,975	Q41L	probably benign	Het
Ak2	T	A	4: 129,008,229	S232T	probably benign	Het
Akr1e1	T	A	13: 4,607,565		probably benign	Het
Ano7	T	C	1: 93,400,581		probably benign	Het
Aox1	T	A	1: 58,047,141	H68Q	possibly damaging	Het
Apaf1	A	G	10: 91,061,814	V269A	possibly damaging	Het
Apba2	A	T	7: 64,733,542	I368F	probably damaging	Het
Armc3	A	G	2: 19,288,936	M513V	probably benign	Het
Asb5	G	A	8: 54,583,620	V116M	probably damaging	Het
Atg16l2	A	G	7: 101,294,920	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,164,861	T40K	probably damaging	Het
C330027C09Rik	T	C	16: 49,005,851		probably benign	Het
Cdk2ap2	A	G	19: 4,097,903	M57V	possibly damaging	Het
Ctnnd1	T	C	2: 84,620,360	N172S	probably benign	Het
Ddx55	T	A	5: 124,566,440	V370E	probably damaging	Het
Ddx6	A	G	9: 44,607,534	T48A	probably benign	Het
Dnah10	C	T	5: 124,833,988	R4490W	probably damaging	Het
Dspp	T	A	5: 104,178,559	S929R	unknown	Het
Fam209	C	A	2: 172,472,769	N59K	probably benign	Het
Fgd3	T	C	13: 49,296,455	E106G	probably benign	Het
Frmd4a	A	C	2: 4,572,365	K344T	probably damaging	Het
Gbe1	A	G	16: 70,528,926	E617G	probably damaging	Het
Gm5089	T	A	14: 122,436,274	I12F	unknown	Het
Gm7052	T	A	17: 22,039,939		probably benign	Het
Gria1	A	T	11: 57,012,104	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,733,245	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Kcnma1	A	C	14: 23,337,029	S982A	probably damaging	Het
Khdrbs3	T	A	15: 69,013,479		probably benign	Het
Kif23	A	T	9: 61,927,384	C426*	probably null	Het
Lmo7	G	T	14: 101,887,061	A319S	probably benign	Het
Ly6c1	T	A	15: 75,048,493	T7S	possibly damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Mamdc4	A	T	2: 25,567,232	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,956,816	R88Q	probably damaging	Het
Mkrn1	T	C	6: 39,405,803	T158A	probably benign	Het
Mroh2b	G	T	15: 4,925,684	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,248,403	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,589,698	H655L	possibly damaging	Het
Npas2	T	C	1: 39,338,195	V546A	probably benign	Het
Nrxn3	G	A	12: 90,332,315	A400T	probably damaging	Het
Olfr1020	T	A	2: 85,850,400	V316E	probably benign	Het
Olfr1066	T	C	2: 86,455,473	H266R	probably benign	Het
Olfr139	A	T	11: 74,045,039	S78R	possibly damaging	Het
Oog3	G	T	4: 144,158,105	H420Q	possibly damaging	Het
Pak7	T	A	2: 136,116,637	H177L	probably benign	Het
Pcca	A	G	14: 122,887,065	I683V	probably benign	Het
Pea15a	T	C	1: 172,198,685	I90V	probably benign	Het
Plagl1	C	A	10: 13,128,658		probably benign	Het
Prmt1	A	G	7: 44,978,724	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,834	Y910*	probably null	Het
Rasal3	T	A	17: 32,393,611	T757S	probably damaging	Het
Rbbp8	T	C	18: 11,727,166		probably benign	Het
S1pr1	A	G	3: 115,712,895	S17P	probably benign	Het
Scel	G	A	14: 103,541,985	V131M	probably damaging	Het
Scn2a	G	A	2: 65,682,083	R188Q	probably null	Het
Snap29	T	A	16: 17,406,326	Y68*	probably null	Het
Spdl1	T	C	11: 34,822,646	T199A	probably benign	Het
Srbd1	T	C	17: 86,142,400	N14D	probably benign	Het
Ston1	G	A	17: 88,635,529	G121D	probably benign	Het
Syt16	G	A	12: 74,235,203	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,671,403	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,806,195	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,539,768		probably benign	Het
Trp73	T	C	4: 154,081,445	T56A	probably damaging	Het
Trpm3	A	G	19: 22,982,583	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,697,878		probably null	Het
Ube4b	T	C	4: 149,383,797	D174G	probably benign	Het
Vmn1r211	A	T	13: 22,851,783	M238K	probably damaging	Het
Wsb2	T	A	5: 117,370,733	N77K	probably benign	Het
Xkr4	C	T	1: 3,671,095	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,689,478		probably null	Het

Other mutations in Erbb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Erbb3	APN	10	128570983	missense	probably damaging	0.99
IGL01482:Erbb3	APN	10	128572929	missense	possibly damaging	0.87
IGL01866:Erbb3	APN	10	128569368	makesense	probably null
IGL01981:Erbb3	APN	10	128571650	missense	probably benign	0.28
IGL02190:Erbb3	APN	10	128571010	splice site	probably null
IGL02329:Erbb3	APN	10	128573219	missense	probably damaging	1.00
IGL02400:Erbb3	APN	10	128579524	missense	probably benign	0.02
IGL02478:Erbb3	APN	10	128571358	nonsense	probably null
IGL02502:Erbb3	APN	10	128570284	missense	probably benign
IGL02539:Erbb3	APN	10	128584305	splice site	probably null
IGL03187:Erbb3	APN	10	128572594	splice site	probably benign
I1329:Erbb3	UTSW	10	128583454	missense	possibly damaging	0.73
PIT4812001:Erbb3	UTSW	10	128574379	missense	possibly damaging	0.67
R0006:Erbb3	UTSW	10	128573410	critical splice donor site	probably null
R0006:Erbb3	UTSW	10	128573410	critical splice donor site	probably null
R0078:Erbb3	UTSW	10	128583441	missense	probably damaging	1.00
R0366:Erbb3	UTSW	10	128572570	missense	possibly damaging	0.77
R0601:Erbb3	UTSW	10	128577012	missense	probably benign	0.01
R0621:Erbb3	UTSW	10	128586225	missense	probably benign	0.00
R1222:Erbb3	UTSW	10	128571665	missense	probably damaging	1.00
R1675:Erbb3	UTSW	10	128571204	missense	probably damaging	0.97
R1676:Erbb3	UTSW	10	128583248	missense	probably benign	0.08
R1692:Erbb3	UTSW	10	128571725	missense	probably benign	0.19
R1875:Erbb3	UTSW	10	128574466	missense	possibly damaging	0.71
R2219:Erbb3	UTSW	10	128569871	missense	probably damaging	0.99
R2328:Erbb3	UTSW	10	128583693	missense	probably damaging	1.00
R3840:Erbb3	UTSW	10	128570324	missense	probably benign
R4393:Erbb3	UTSW	10	128572770	missense	probably damaging	1.00
R4567:Erbb3	UTSW	10	128579075	missense	probably damaging	1.00
R4616:Erbb3	UTSW	10	128572770	nonsense	probably null
R4766:Erbb3	UTSW	10	128586238	missense	possibly damaging	0.76
R4881:Erbb3	UTSW	10	128576947	missense	probably benign	0.00
R4974:Erbb3	UTSW	10	128572448	missense	probably benign
R5266:Erbb3	UTSW	10	128569636	missense	probably damaging	1.00
R5463:Erbb3	UTSW	10	128570079	nonsense	probably null
R5481:Erbb3	UTSW	10	128572480	missense	probably damaging	0.98
R5997:Erbb3	UTSW	10	128583185	missense	probably damaging	1.00
R6370:Erbb3	UTSW	10	128570074	missense	possibly damaging	0.90
R7639:Erbb3	UTSW	10	128569847	missense	probably damaging	0.99
R7713:Erbb3	UTSW	10	128574449	missense	probably benign
R7847:Erbb3	UTSW	10	128571189	missense	probably damaging	1.00
R7930:Erbb3	UTSW	10	128571189	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTCTTAGGAATGCCAACTGC -3'
(R):5'- TCCAGCGTGGAAAAGTTCAC -3'

Sequencing Primer
(F):5'- TGCAGCAAAAGATGGTCCC -3'
(R):5'- CCAGCGTGGAAAAGTTCACATTTC -3'

Posted On

2014-08-25