Mutagenetix > Incidental Mutation

Incidental Mutation 'R0366:Erbb3'

36427

Institutional Source

Beutler Lab

Gene Symbol

Erbb3

Ensembl Gene

ENSMUSG00000018166

Gene Name

erb-b2 receptor tyrosine kinase 3

Synonyms

Erbb3r, Erbb-3, HER3

MMRRC Submission

038572-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128403392-128425504 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128408439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 825 (E825G)

Ref Sequence

ENSEMBL: ENSMUSP00000080716 (fasta)

Gene Model

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

AlphaFold

Q61526

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082059
AA Change: E825G

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080716
Gene: ENSMUSG00000018166
AA Change: E825G

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

0.8007

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

99% (68/69)

MGI Phenotype

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,724 (GRCm39)	S93*	probably null	Het
Ackr2	T	C	9: 121,738,426 (GRCm39)	L267P	probably damaging	Het
Adgre4	T	A	17: 56,099,001 (GRCm39)	L169*	probably null	Het
Ankrd12	T	A	17: 66,291,501 (GRCm39)	S1311C	possibly damaging	Het
Arid2	T	A	15: 96,259,601 (GRCm39)		probably benign	Het
Atp9b	A	T	18: 80,805,317 (GRCm39)	V747E	probably damaging	Het
Best1	T	C	19: 9,969,417 (GRCm39)		probably null	Het
Brwd1	C	A	16: 95,839,164 (GRCm39)	E836*	probably null	Het
Cachd1	A	G	4: 100,851,934 (GRCm39)	S1177G	possibly damaging	Het
Cacna1e	C	T	1: 154,291,884 (GRCm39)	E1766K	probably benign	Het
Cckar	A	G	5: 53,857,507 (GRCm39)	I301T	probably benign	Het
Cdc27	T	G	11: 104,396,474 (GRCm39)	T816P	probably damaging	Het
Cep162	T	G	9: 87,102,537 (GRCm39)	Q708H	probably damaging	Het
Cep250	C	A	2: 155,830,321 (GRCm39)	D1301E	probably benign	Het
D430041D05Rik	G	A	2: 104,085,685 (GRCm39)	H955Y	probably damaging	Het
Dcdc2a	T	A	13: 25,240,417 (GRCm39)	V55E	probably damaging	Het
Efcab12	A	G	6: 115,800,209 (GRCm39)		probably benign	Het
Ep400	A	G	5: 110,849,537 (GRCm39)	V1428A	unknown	Het
Evl	A	T	12: 108,652,307 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,381,507 (GRCm39)	R140H	probably benign	Het
Gm5581	T	C	6: 131,143,410 (GRCm39)		noncoding transcript	Het
Gm7052	T	C	17: 22,259,498 (GRCm39)		probably benign	Het
Gpd1	T	G	15: 99,617,151 (GRCm39)	I119S	probably damaging	Het
Gzmc	A	T	14: 56,470,193 (GRCm39)	Y101*	probably null	Het
Hmcn2	G	T	2: 31,314,218 (GRCm39)	A3588S	possibly damaging	Het
Ikbkb	A	G	8: 23,185,276 (GRCm39)		probably benign	Het
Itgax	G	T	7: 127,748,261 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,428,717 (GRCm39)	S81I	possibly damaging	Het
Lct	G	A	1: 128,214,199 (GRCm39)	P1858S	probably benign	Het
Map2k1	C	A	9: 64,100,984 (GRCm39)		probably null	Het
Mdga1	A	G	17: 30,076,682 (GRCm39)	V30A	possibly damaging	Het
Meiosin	T	A	7: 18,840,964 (GRCm39)	I57F	probably damaging	Het
Mtcl1	G	A	17: 66,645,124 (GRCm39)	P1441L	probably damaging	Het
N4bp2	T	A	5: 65,963,739 (GRCm39)	F596Y	possibly damaging	Het
Notch4	A	T	17: 34,800,473 (GRCm39)		probably benign	Het
Or2l5	A	G	16: 19,333,598 (GRCm39)	S263P	probably benign	Het
Or4c12	A	C	2: 89,774,162 (GRCm39)	V99G	possibly damaging	Het
Or6c1	A	G	10: 129,517,840 (GRCm39)	M256T	possibly damaging	Het
Or8b44	T	A	9: 38,410,450 (GRCm39)	C162S	possibly damaging	Het
Or8k25	A	G	2: 86,244,369 (GRCm39)	V9A	possibly damaging	Het
Pbld2	A	G	10: 62,889,736 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,808,460 (GRCm39)	Y505C	probably damaging	Het
Plcb2	A	G	2: 118,554,928 (GRCm39)	F58L	probably benign	Het
Plcd1	T	A	9: 118,910,204 (GRCm39)	I72F	probably damaging	Het
Ppp5c	A	T	7: 16,756,508 (GRCm39)	Y63*	probably null	Het
Prdm4	T	C	10: 85,743,868 (GRCm39)	D129G	probably damaging	Het
Prkcq	C	A	2: 11,251,649 (GRCm39)		probably benign	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rab7b	T	A	1: 131,626,242 (GRCm39)	V90D	probably damaging	Het
Ripk3	T	C	14: 56,024,292 (GRCm39)	T193A	probably damaging	Het
Rnf167	C	T	11: 70,540,143 (GRCm39)	R88*	probably null	Het
Robo1	A	G	16: 72,539,133 (GRCm39)	T59A	possibly damaging	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Scg3	T	A	9: 75,582,620 (GRCm39)		probably benign	Het
Sec31a	A	T	5: 100,530,625 (GRCm39)	L677H	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,457,741 (GRCm39)	T29A	probably benign	Het
Shoc1	A	C	4: 59,099,410 (GRCm39)	M94R	probably benign	Het
Slc4a5	A	G	6: 83,272,854 (GRCm39)	Y942C	probably benign	Het
Slit1	T	A	19: 41,599,470 (GRCm39)	Y1027F	probably damaging	Het
Sptan1	G	A	2: 29,882,764 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,208,227 (GRCm39)	Q249R	probably benign	Het
Tmem171	T	A	13: 98,828,736 (GRCm39)	D138V	possibly damaging	Het
Ttll10	G	A	4: 156,119,612 (GRCm39)	R596W	probably damaging	Het
Usp53	G	T	3: 122,742,850 (GRCm39)	N695K	probably damaging	Het
Vmn2r25	A	T	6: 123,800,581 (GRCm39)	L587*	probably null	Het
Zglp1	C	T	9: 20,974,675 (GRCm39)	C171Y	probably benign	Het

Other mutations in Erbb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Erbb3	APN	10	128,406,852 (GRCm39)	missense	probably damaging	0.99
IGL01482:Erbb3	APN	10	128,408,798 (GRCm39)	missense	possibly damaging	0.87
IGL01866:Erbb3	APN	10	128,405,237 (GRCm39)	makesense	probably null
IGL01981:Erbb3	APN	10	128,407,519 (GRCm39)	missense	probably benign	0.28
IGL02190:Erbb3	APN	10	128,406,879 (GRCm39)	splice site	probably null
IGL02329:Erbb3	APN	10	128,409,088 (GRCm39)	missense	probably damaging	1.00
IGL02400:Erbb3	APN	10	128,415,393 (GRCm39)	missense	probably benign	0.02
IGL02478:Erbb3	APN	10	128,407,227 (GRCm39)	nonsense	probably null
IGL02502:Erbb3	APN	10	128,406,153 (GRCm39)	missense	probably benign
IGL02539:Erbb3	APN	10	128,420,174 (GRCm39)	splice site	probably null
IGL03187:Erbb3	APN	10	128,408,463 (GRCm39)	splice site	probably benign
I1329:Erbb3	UTSW	10	128,419,323 (GRCm39)	missense	possibly damaging	0.73
PIT4812001:Erbb3	UTSW	10	128,410,248 (GRCm39)	missense	possibly damaging	0.67
R0006:Erbb3	UTSW	10	128,409,279 (GRCm39)	critical splice donor site	probably null
R0006:Erbb3	UTSW	10	128,409,279 (GRCm39)	critical splice donor site	probably null
R0078:Erbb3	UTSW	10	128,419,310 (GRCm39)	missense	probably damaging	1.00
R0601:Erbb3	UTSW	10	128,412,881 (GRCm39)	missense	probably benign	0.01
R0621:Erbb3	UTSW	10	128,422,094 (GRCm39)	missense	probably benign	0.00
R1222:Erbb3	UTSW	10	128,407,534 (GRCm39)	missense	probably damaging	1.00
R1675:Erbb3	UTSW	10	128,407,073 (GRCm39)	missense	probably damaging	0.97
R1676:Erbb3	UTSW	10	128,419,117 (GRCm39)	missense	probably benign	0.08
R1692:Erbb3	UTSW	10	128,407,594 (GRCm39)	missense	probably benign	0.19
R1875:Erbb3	UTSW	10	128,410,335 (GRCm39)	missense	possibly damaging	0.71
R2002:Erbb3	UTSW	10	128,422,094 (GRCm39)	missense	probably benign	0.00
R2219:Erbb3	UTSW	10	128,405,740 (GRCm39)	missense	probably damaging	0.99
R2328:Erbb3	UTSW	10	128,419,562 (GRCm39)	missense	probably damaging	1.00
R3840:Erbb3	UTSW	10	128,406,193 (GRCm39)	missense	probably benign
R4393:Erbb3	UTSW	10	128,408,639 (GRCm39)	missense	probably damaging	1.00
R4567:Erbb3	UTSW	10	128,414,944 (GRCm39)	missense	probably damaging	1.00
R4616:Erbb3	UTSW	10	128,408,639 (GRCm39)	nonsense	probably null
R4766:Erbb3	UTSW	10	128,422,107 (GRCm39)	missense	possibly damaging	0.76
R4881:Erbb3	UTSW	10	128,412,816 (GRCm39)	missense	probably benign	0.00
R4974:Erbb3	UTSW	10	128,408,317 (GRCm39)	missense	probably benign
R5266:Erbb3	UTSW	10	128,405,505 (GRCm39)	missense	probably damaging	1.00
R5463:Erbb3	UTSW	10	128,405,948 (GRCm39)	nonsense	probably null
R5481:Erbb3	UTSW	10	128,408,349 (GRCm39)	missense	probably damaging	0.98
R5997:Erbb3	UTSW	10	128,419,054 (GRCm39)	missense	probably damaging	1.00
R6370:Erbb3	UTSW	10	128,405,943 (GRCm39)	missense	possibly damaging	0.90
R7639:Erbb3	UTSW	10	128,405,716 (GRCm39)	missense	probably damaging	0.99
R7713:Erbb3	UTSW	10	128,410,318 (GRCm39)	missense	probably benign
R7847:Erbb3	UTSW	10	128,407,058 (GRCm39)	missense	probably damaging	1.00
R8529:Erbb3	UTSW	10	128,419,069 (GRCm39)	missense	probably damaging	0.99
R8843:Erbb3	UTSW	10	128,414,325 (GRCm39)	missense	possibly damaging	0.82
R8988:Erbb3	UTSW	10	128,406,030 (GRCm39)	missense	probably damaging	1.00
R9336:Erbb3	UTSW	10	128,420,929 (GRCm39)	missense	probably benign	0.15
R9530:Erbb3	UTSW	10	128,410,291 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCTCAGCTAGAGCCCCTTGACTG -3'
(R):5'- GCTCAACTGGGGAGTACAAATTGCC -3'

Sequencing Primer
(F):5'- GAGCCCCTTGACTGCTCTG -3'
(R):5'- GTACAAATTGCCAAGGTGAGG -3'

Posted On

2013-05-09