Mutagenetix > Incidental Mutations

Incidental Mutation 'R5997:Erbb3'

480635

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

044176-MU

Accession Numbers

Ncbi RefSeq: NM_010153.1; MGI:95411

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128567523-128589652 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128583185 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 269 (T269M)

Ref Sequence

ENSEMBL: ENSMUSP00000080716 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000082059
AA Change: T269M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080716
Gene: ENSMUSG00000018166
AA Change: T269M

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

0.6467

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,373	D38V	probably benign	Het
Abcb9	A	T	5: 124,089,815	V121E	possibly damaging	Het
Adamts20	T	A	15: 94,379,747	Y278F	probably damaging	Het
Adcy7	A	T	8: 88,326,392	D972V	probably benign	Het
Adgrf3	C	A	5: 30,198,362		probably null	Het
Ahdc1	G	T	4: 133,063,895	G816C	probably benign	Het
Aifm3	A	G	16: 17,502,130	K283E	probably benign	Het
Akap6	T	C	12: 52,937,233		probably null	Het
Ank1	T	C	8: 23,099,662	L593P	probably damaging	Het
Apol11b	T	A	15: 77,635,497	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,616,085	T235K	probably damaging	Het
Camk2a	A	T	18: 60,977,957	I73F	probably damaging	Het
Cd109	G	T	9: 78,705,062	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,769,463	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,604,575	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,496,100	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,459,391	K405*	probably null	Het
Dchs1	T	C	7: 105,754,095	D3080G	probably benign	Het
Ddx1	T	C	12: 13,237,799	D168G	probably damaging	Het
Dhx57	T	G	17: 80,245,806	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,770,105	N3640D	probably benign	Het
Dock4	T	A	12: 40,755,834	L935Q	probably damaging	Het
Dus2	A	T	8: 106,046,066	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,689,108	R201C	possibly damaging	Het
Fam71f2	T	A	6: 29,290,424	L267*	probably null	Het
Fbxo43	T	C	15: 36,162,093	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061	H233R	probably benign	Het
Ftsj3	A	T	11: 106,252,251	D412E	probably damaging	Het
Fzd7	A	T	1: 59,484,544	M529L	probably benign	Het
Fzr1	T	A	10: 81,370,826		probably null	Het
Ganc	T	G	2: 120,430,605	V257G	possibly damaging	Het
Gm4131	T	C	14: 62,464,758	K254E	probably damaging	Het
Gm6583	C	T	5: 112,355,008	V277M	possibly damaging	Het
Gm7347	G	T	5: 26,057,249	Y91*	probably null	Het
Gm9857	G	A	3: 108,940,165		probably benign	Het
Grpel1	T	C	5: 36,465,248	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,833,711	K670E	possibly damaging	Het
Hist1h2bf	G	A	13: 23,574,103		probably benign	Het
Hmcn1	G	T	1: 150,704,173	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,399,157	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,767,979	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,663,704	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,335,914	T92S	possibly damaging	Het
Krt8	C	T	15: 102,000,594	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,480,388	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,701,028	L135S	probably benign	Het
Lrguk	A	G	6: 34,129,143	Y701C	probably damaging	Het
Mcc	G	T	18: 44,449,321	L588M	probably damaging	Het
Mcidas	T	A	13: 112,998,586	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,280,614	L208Q	probably damaging	Het
Myof	A	G	19: 37,905,299	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 107,182,496	T300K	probably benign	Het
Olfr1474	A	G	19: 13,471,506	I179V	probably benign	Het
Olfr165	T	A	16: 19,407,944	H24L	probably benign	Het
Olfr716	A	T	7: 107,147,328	E4V	possibly damaging	Het
Olfr890	A	T	9: 38,143,801	Y217F	probably damaging	Het
Orc2	A	G	1: 58,472,388	I354T	probably damaging	Het
Pard3b	G	T	1: 62,076,409	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,434,603	D49G	probably benign	Het
Pcsk6	T	C	7: 65,959,293	F388S	probably damaging	Het
Prokr2	A	C	2: 132,381,442	I60S	probably damaging	Het
Rab33b	A	G	3: 51,484,479	T50A	possibly damaging	Het
Rbms3	T	C	9: 116,719,389	D61G	probably damaging	Het
Rhcg	T	A	7: 79,600,514	K274*	probably null	Het
Rnf112	C	T	11: 61,451,022	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,682,800	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,722,058	D168G	probably damaging	Het
Sik2	A	G	9: 50,895,342		probably null	Het
Slco1a5	T	A	6: 142,253,113	L275F	probably benign	Het
Smtnl1	T	C	2: 84,815,378	H383R	probably damaging	Het
Spns3	T	G	11: 72,539,078	T175P	probably damaging	Het
Togaram1	A	G	12: 64,995,538	T1174A	probably benign	Het
Tradd	C	T	8: 105,260,645	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,373,560	Y579N	probably damaging	Het
Uncx	G	A	5: 139,547,589	G470R	probably damaging	Het
Vav3	T	A	3: 109,501,461	M177K	probably damaging	Het
Wfs1	A	T	5: 36,967,750	I599N	probably damaging	Het
Zfp454	G	A	11: 50,873,622	H217Y	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCACATAATCACATCTAGGTTCCCC -3'
(R):5'- CCAGGACACAGATTGCTTCG -3'

Sequencing Primer
(F):5'- ATCTAGGTTCCCCCGATTAACAC -3'
(R):5'- CGTATGTAATGGTGCCATCAGCC -3'

Posted On

2017-06-26