Mutagenetix > Incidental Mutation

Incidental Mutation 'R1676:Erbb3'

188097

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

039712-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1676 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128403392-128425504 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128419117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 248 (H248R)

Ref Sequence

ENSEMBL: ENSMUSP00000080716 (fasta)

Gene Model

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

AlphaFold

Q61526

Predicted Effect

probably benign
Transcript: ENSMUST00000082059
AA Change: H248R

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080716
Gene: ENSMUSG00000018166
AA Change: H248R

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	T	11: 58,771,819 (GRCm39)	A434S	possibly damaging	Het
Abhd8	T	A	8: 71,914,517 (GRCm39)	D37V	probably damaging	Het
Acvr2a	G	A	2: 48,763,095 (GRCm39)	S97N	probably benign	Het
Ampd3	T	A	7: 110,394,940 (GRCm39)	H296Q	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Cap2	T	G	13: 46,791,335 (GRCm39)	H167Q	probably damaging	Het
Car8	A	G	4: 8,185,616 (GRCm39)	L180S	probably damaging	Het
Casp8	T	A	1: 58,883,575 (GRCm39)	I314N	probably damaging	Het
Cavin2	T	A	1: 51,340,330 (GRCm39)	S336T	probably benign	Het
Cdc14b	A	T	13: 64,373,416 (GRCm39)	I119N	possibly damaging	Het
Cemip	T	A	7: 83,613,246 (GRCm39)	I651F	possibly damaging	Het
Cfap57	T	A	4: 118,453,137 (GRCm39)	D522V	probably damaging	Het
Clrn3	A	T	7: 135,120,307 (GRCm39)	V93D	probably damaging	Het
Crppa	T	C	12: 36,526,720 (GRCm39)	C170R	probably benign	Het
Cyp4f39	A	G	17: 32,701,176 (GRCm39)	D222G	probably benign	Het
D5Ertd579e	A	G	5: 36,773,453 (GRCm39)	V314A	probably benign	Het
Dchs1	C	T	7: 105,404,128 (GRCm39)	V2805I	probably benign	Het
Dsp	A	T	13: 38,377,350 (GRCm39)	K1712*	probably null	Het
Emilin2	T	C	17: 71,581,085 (GRCm39)	D547G	probably benign	Het
Erich3	A	G	3: 154,468,260 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,151,701 (GRCm39)	T2518A	probably damaging	Het
Fzd2	G	A	11: 102,496,707 (GRCm39)	V384M	probably damaging	Het
Gpc5	T	A	14: 115,607,510 (GRCm39)	S371T	probably damaging	Het
Hbb-bh2	T	C	7: 103,488,362 (GRCm39)	K145R	probably null	Het
Hectd1	G	T	12: 51,791,571 (GRCm39)	P2558Q	probably damaging	Het
Hgsnat	C	T	8: 26,444,633 (GRCm39)		probably null	Het
Hirip3	T	C	7: 126,462,647 (GRCm39)		probably null	Het
Itpkc	T	C	7: 26,907,706 (GRCm39)	D666G	probably damaging	Het
Jmjd1c	T	A	10: 67,060,588 (GRCm39)	D693E	probably benign	Het
Katnbl1	T	C	2: 112,236,454 (GRCm39)	L60P	probably damaging	Het
Kcna1	T	A	6: 126,619,645 (GRCm39)	E225V	probably damaging	Het
Kcnj6	T	A	16: 94,633,443 (GRCm39)	M223L	probably damaging	Het
Kcnk7	G	T	19: 5,757,006 (GRCm39)	V332F	probably benign	Het
Kmt5a	GAA	GA	5: 124,597,948 (GRCm39)		probably null	Het
Mdga2	C	A	12: 66,615,546 (GRCm39)	G618V	probably damaging	Het
Mdga2	C	A	12: 66,615,547 (GRCm39)	G618*	probably null	Het
Morc2b	T	C	17: 33,354,955 (GRCm39)	E939G	possibly damaging	Het
Mstn	T	A	1: 53,101,224 (GRCm39)	D100E	probably benign	Het
Mthfd1l	G	A	10: 4,033,877 (GRCm39)		probably null	Het
Muc20	T	A	16: 32,614,649 (GRCm39)	T243S	probably damaging	Het
Myo1d	A	T	11: 80,575,247 (GRCm39)	N156K	probably damaging	Het
Myo7a	A	G	7: 97,748,679 (GRCm39)		probably null	Het
Naa35	A	T	13: 59,760,490 (GRCm39)	Q274L	probably damaging	Het
Ncam1	G	A	9: 49,468,472 (GRCm39)	T329I	probably damaging	Het
Nisch	T	C	14: 30,902,859 (GRCm39)		probably benign	Het
Nlrp1b	A	T	11: 71,073,637 (GRCm39)	W69R	probably benign	Het
Nrap	T	A	19: 56,323,687 (GRCm39)	H1294L	probably damaging	Het
Nsun6	T	A	2: 15,052,024 (GRCm39)	R56*	probably null	Het
Nudt1	A	G	5: 140,320,378 (GRCm39)		probably null	Het
Nxph4	T	G	10: 127,362,077 (GRCm39)	K271N	probably damaging	Het
Or1af1	A	T	2: 37,109,653 (GRCm39)	R51*	probably null	Het
Or4a66	T	G	2: 88,531,661 (GRCm39)	H4P	probably benign	Het
Or51e2	T	A	7: 102,391,605 (GRCm39)	I202F	probably damaging	Het
Or52a20	T	C	7: 103,366,319 (GRCm39)	W173R	probably benign	Het
Otud6b	T	A	4: 14,825,617 (GRCm39)	N71I	probably damaging	Het
Parp8	T	A	13: 117,014,064 (GRCm39)	D623V	probably damaging	Het
Pcdhb5	T	C	18: 37,453,805 (GRCm39)	S62P	probably benign	Het
Ppp1r12b	A	G	1: 134,705,190 (GRCm39)	S833P	probably damaging	Het
Ppp1r1a	T	G	15: 103,441,915 (GRCm39)	D51A	probably damaging	Het
Prag1	C	A	8: 36,570,052 (GRCm39)	P212T	probably damaging	Het
Prxl2b	C	T	4: 154,981,520 (GRCm39)	V186I	probably benign	Het
Ptdss1	A	G	13: 67,081,701 (GRCm39)	T44A	probably damaging	Het
Rab14	T	C	2: 35,076,735 (GRCm39)	H83R	possibly damaging	Het
Rapgef3	C	T	15: 97,659,063 (GRCm39)	G101E	probably benign	Het
Rimbp3	T	A	16: 17,028,977 (GRCm39)	D800E	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Selenbp1	A	G	3: 94,851,854 (GRCm39)	D465G	probably damaging	Het
Slc28a2b	T	C	2: 122,352,340 (GRCm39)	S366P	probably damaging	Het
Slc29a1	T	C	17: 45,899,936 (GRCm39)	D251G	probably damaging	Het
Slc6a11	G	T	6: 114,224,627 (GRCm39)	V604F	probably benign	Het
Sltm	T	A	9: 70,480,929 (GRCm39)	D260E	probably damaging	Het
Spta1	G	A	1: 174,007,405 (GRCm39)	V212M	probably damaging	Het
St6gal2	T	C	17: 55,803,396 (GRCm39)		probably null	Het
Tc2n	A	G	12: 101,655,251 (GRCm39)	S235P	probably damaging	Het
Tenm3	T	A	8: 48,870,154 (GRCm39)	N213I	possibly damaging	Het
Ticam2	T	C	18: 46,693,677 (GRCm39)	T137A	probably damaging	Het
Ttn	TCCC	TCCCC	2: 76,573,251 (GRCm39)		probably null	Het
Tyk2	G	A	9: 21,026,545 (GRCm39)	Q684*	probably null	Het
Ubqln1	A	G	13: 58,327,205 (GRCm39)	F478S	possibly damaging	Het
Uckl1	G	A	2: 181,216,711 (GRCm39)	T78I	probably damaging	Het
Uhmk1	A	G	1: 170,027,581 (GRCm39)	V372A	probably damaging	Het
Unc5c	G	A	3: 141,463,598 (GRCm39)	V240I	possibly damaging	Het
Ush2a	T	C	1: 188,460,782 (GRCm39)	L2681P	probably damaging	Het
Vmn2r1	C	T	3: 63,997,603 (GRCm39)	Q420*	probably null	Het
Vmn2r101	A	T	17: 19,832,184 (GRCm39)	T727S	probably benign	Het
Vmn2r79	A	G	7: 86,651,839 (GRCm39)	T413A	probably benign	Het
Vps13c	T	C	9: 67,834,244 (GRCm39)	V1637A	probably benign	Het
Xpc	A	G	6: 91,469,929 (GRCm39)	V765A	possibly damaging	Het
Zbtb18	T	G	1: 177,274,913 (GRCm39)		probably null	Het
Zfp712	A	T	13: 67,200,400 (GRCm39)	D28E	probably benign	Het
Zfp735	A	G	11: 73,602,301 (GRCm39)	N415S	possibly damaging	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
R0366:Erbb3	UTSW	10	128,408,439 (GRCm39)	missense	possibly damaging	0.77
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
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'- CTTTGTTGTGACCCCTCCCAGAAG -3'
(R):5'- TAGTGACCAAGACCATCTGTGCCC -3'

Sequencing Primer
(F):5'- CCATcacacacacacacacac -3'
(R):5'- TGTGCCCCTCAGTGTAACG -3'

Posted On

2014-05-09