Mutagenetix > Incidental Mutation

Incidental Mutation 'R4616:Erbb3'

351053

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

041827-MU

Accession Numbers

Ncbi RefSeq: NM_010153.1; MGI:95411

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128567523-128589652 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 128572770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 815 (Q815*)

Ref Sequence

ENSEMBL: ENSMUSP00000080716 (fasta)

Gene Model

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

AlphaFold

Q61526

Predicted Effect

probably null
Transcript: ENSMUST00000082059
AA Change: Q815*

SMART Domains

Protein: ENSMUSP00000080716
Gene: ENSMUSG00000018166
AA Change: Q815*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,298,751	E123K	probably damaging	Het
4931417E11Rik	A	G	6: 73,469,269	V99A	probably benign	Het
Acod1	C	T	14: 103,055,345	T435M	probably benign	Het
Adgrf5	T	C	17: 43,452,440	F1078L	probably benign	Het
Adh6a	A	T	3: 138,324,947	N110I	probably damaging	Het
Aldh16a1	T	C	7: 45,148,788		probably benign	Het
Arhgef17	A	G	7: 100,882,485	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,957,453	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,982,988	S28P	possibly damaging	Het
C9	A	G	15: 6,491,463	D51G	probably damaging	Het
Cfb	T	A	17: 34,859,068	H962L	probably benign	Het
Chn2	G	A	6: 54,290,403	M292I	probably damaging	Het
Clec16a	T	A	16: 10,644,883		probably null	Het
Cyp1a1	T	C	9: 57,701,756	S307P	probably benign	Het
Dsg3	T	C	18: 20,531,559	V538A	probably benign	Het
Fam90a1a	C	A	8: 21,963,846	Q406K	possibly damaging	Het
Frmd3	T	C	4: 74,187,872	V585A	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8214	T	C	1: 183,681,897		noncoding transcript	Het
Gpld1	G	A	13: 24,984,816	G771D	probably damaging	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Gria2	A	T	3: 80,706,897	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,610	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,879,219	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,458,035	M1K	probably null	Het
Igkv8-21	A	T	6: 70,315,157	S34T	probably benign	Het
Itpr1	A	G	6: 108,481,223	N1985D	probably damaging	Het
Lama3	T	C	18: 12,504,397		probably null	Het
Lamc2	T	C	1: 153,166,169	Y73C	probably damaging	Het
Maff	A	G	15: 79,357,698	D105G	probably damaging	Het
Mep1a	C	T	17: 43,486,241	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrgbp	A	T	2: 180,585,314		silent	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Myo7b	T	C	18: 32,003,487		probably null	Het
Myo9a	T	C	9: 59,821,649	I596T	probably damaging	Het
Olfr38	G	T	6: 42,762,418	R122L	probably benign	Het
Olfr594	C	T	7: 103,220,422	R235*	probably null	Het
Pcsk5	T	G	19: 17,560,750	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,152,009	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,154,890	I337N	probably damaging	Het
Psmd3	T	C	11: 98,682,926	V66A	probably benign	Het
Ptger3	T	C	3: 157,567,294	S93P	probably damaging	Het
Rbm27	T	A	18: 42,301,775	D301E	probably damaging	Het
Rdh16	A	T	10: 127,801,513		probably null	Het
Slc35a5	A	T	16: 45,144,292	F193I	probably benign	Het
Slc4a4	A	G	5: 89,038,561	K167R	probably damaging	Het
Sort1	A	T	3: 108,355,541	T772S	possibly damaging	Het
Sptbn5	T	A	2: 120,048,757		noncoding transcript	Het
Stard5	G	T	7: 83,633,281		probably benign	Het
Tbc1d22a	A	G	15: 86,235,685	T61A	probably damaging	Het
Tox2	T	C	2: 163,320,647	L479P	probably damaging	Het
Usp53	A	T	3: 122,959,120	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,805,965	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 42,012,438	I651T	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Zfhx4	T	C	3: 5,413,067	S3556P	possibly damaging	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
R2002:Erbb3	UTSW	10	128586225	missense	probably benign	0.00
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
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
R8529:Erbb3	UTSW	10	128583200	missense	probably damaging	0.99
R8843:Erbb3	UTSW	10	128578456	missense	possibly damaging	0.82
R8988:Erbb3	UTSW	10	128570161	missense	probably damaging	1.00
R9336:Erbb3	UTSW	10	128585060	missense	probably benign	0.15
R9530:Erbb3	UTSW	10	128574422	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTGTGTTCCTCGAGGTAATAC -3'
(R):5'- GCAAACCCGTTACTTCCTGG -3'

Sequencing Primer
(F):5'- CACCTTGAAGACAGCACT -3'
(R):5'- GGCTAACACCTCTTATATTTTGCAG -3'

Posted On

2015-10-08