Mutagenetix > Incidental Mutation

Incidental Mutation 'R9336:Erbb3'

707173

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128403392-128425504 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128420929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 125 (T125A)

Ref Sequence

ENSEMBL: ENSMUSP00000080716 (fasta)

Gene Model

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

AlphaFold

Q61526

Predicted Effect

probably benign
Transcript: ENSMUST00000082059
AA Change: T125A

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000080716
Gene: ENSMUSG00000018166
AA Change: T125A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	T	4: 148,029,490 (GRCm39)	R487C	probably benign	Het
2900026A02Rik	A	T	5: 113,240,966 (GRCm39)		probably null	Het
Adamts15	T	A	9: 30,816,085 (GRCm39)	T625S	probably damaging	Het
Adamtsl1	T	C	4: 86,240,264 (GRCm39)	V675A	probably benign	Het
Ank3	A	T	10: 69,809,578 (GRCm39)	T1120S	probably benign	Het
Armh3	A	T	19: 45,945,120 (GRCm39)	M277K	probably damaging	Het
Babam2	A	T	5: 31,859,194 (GRCm39)	M1L	possibly damaging	Het
Cadm3	G	A	1: 173,168,786 (GRCm39)	Q261*	probably null	Het
Cdc27	A	T	11: 104,396,496 (GRCm39)	D802E	probably benign	Het
Cfap206	C	T	4: 34,716,494 (GRCm39)	V324I	probably benign	Het
Cfap44	T	C	16: 44,242,807 (GRCm39)	I737T	probably damaging	Het
Chrm3	A	T	13: 9,928,652 (GRCm39)	I128N	probably damaging	Het
Cyfip1	T	A	7: 55,554,189 (GRCm39)	S743T	probably benign	Het
Ddias	A	G	7: 92,507,314 (GRCm39)	V867A	possibly damaging	Het
Ddx20	G	C	3: 105,585,903 (GRCm39)	T814R	possibly damaging	Het
Dgka	A	T	10: 128,566,935 (GRCm39)		probably null	Het
Dnah9	A	T	11: 65,761,775 (GRCm39)	V3905E	probably damaging	Het
Dsg3	C	A	18: 20,657,742 (GRCm39)	Q271K	probably benign	Het
Dvl2	T	A	11: 69,897,180 (GRCm39)	I294N	probably damaging	Het
E2f3	G	A	13: 30,095,239 (GRCm39)	H350Y	possibly damaging	Het
Eif2b5	G	A	16: 20,324,027 (GRCm39)	D457N	probably damaging	Het
Etv5	A	C	16: 22,254,627 (GRCm39)	C78G	probably benign	Het
Frrs1	G	A	3: 116,684,582 (GRCm39)	R263H	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hivep3	A	T	4: 119,952,400 (GRCm39)	I239F	possibly damaging	Het
Ifi208	C	T	1: 173,510,394 (GRCm39)	T183I	probably damaging	Het
Ifitm2	AG	A	7: 140,535,814 (GRCm39)		probably null	Het
Igkv1-88	T	A	6: 68,839,313 (GRCm39)	I100F	probably damaging	Het
Kmt2c	T	C	5: 25,614,165 (GRCm39)	N185S	probably benign	Het
Kmt2d	A	C	15: 98,743,697 (GRCm39)	L3821R	unknown	Het
Krtap22-2	T	G	16: 88,807,478 (GRCm39)	Y40S	unknown	Het
Lrrc1	A	G	9: 77,349,480 (GRCm39)	V362A	probably damaging	Het
Malsu1	T	A	6: 49,061,449 (GRCm39)	I171N	probably damaging	Het
Mark1	C	T	1: 184,648,345 (GRCm39)	G314S	possibly damaging	Het
Mib2	T	C	4: 155,743,394 (GRCm39)	N135S	probably benign	Het
Mos	A	T	4: 3,870,886 (GRCm39)	L310Q	probably damaging	Het
Muc4	C	T	16: 32,569,756 (GRCm39)	T272I	possibly damaging	Het
Myo15b	A	G	11: 115,771,064 (GRCm39)	T1654A		Het
Napsa	G	T	7: 44,231,769 (GRCm39)	G153W	probably damaging	Het
Nos3	A	C	5: 24,584,761 (GRCm39)	I722L	probably benign	Het
Or10z1	A	T	1: 174,077,679 (GRCm39)	D271E	probably damaging	Het
Or1p1c	A	T	11: 74,160,743 (GRCm39)	D176V	probably damaging	Het
Or51h1	A	T	7: 102,308,199 (GRCm39)	H57L	probably damaging	Het
Or5b104	A	T	19: 13,072,513 (GRCm39)	S166R	probably benign	Het
P4ha2	T	A	11: 54,002,390 (GRCm39)	D109E	possibly damaging	Het
Pappa	G	T	4: 65,042,918 (GRCm39)	C47F	unknown	Het
Pbx3	T	A	2: 34,261,832 (GRCm39)	H34L	probably benign	Het
Pcca	A	G	14: 122,887,738 (GRCm39)	T234A	probably benign	Het
Pcdha11	C	T	18: 37,144,514 (GRCm39)	R202W	probably damaging	Het
Pcdhga1	T	G	18: 37,795,251 (GRCm39)	V85G	probably damaging	Het
Pclo	A	G	5: 14,726,562 (GRCm39)	I1807V	unknown	Het
Pgm3	A	T	9: 86,437,413 (GRCm39)	F528Y	probably benign	Het
Pigz	T	C	16: 31,763,694 (GRCm39)	Y251H	probably damaging	Het
Pik3c2g	G	T	6: 139,821,161 (GRCm39)	Q687H		Het
Pja2	A	T	17: 64,590,432 (GRCm39)	N700K	unknown	Het
Pkd2l2	T	C	18: 34,561,158 (GRCm39)	F389L	probably damaging	Het
Plcz1	T	A	6: 139,985,446 (GRCm39)	T32S	possibly damaging	Het
Pola2	A	G	19: 5,991,029 (GRCm39)	V555A	possibly damaging	Het
Ppp4r3a	A	C	12: 101,015,919 (GRCm39)	C541G	probably benign	Het
Prr15l	A	T	11: 96,825,599 (GRCm39)	K76N	probably damaging	Het
Psg28	C	A	7: 18,156,905 (GRCm39)	K443N	possibly damaging	Het
Ptch2	G	T	4: 116,954,197 (GRCm39)	A76S	probably damaging	Het
Ptch2	A	G	4: 116,966,776 (GRCm39)	D553G	possibly damaging	Het
Ptprz1	T	C	6: 23,000,855 (GRCm39)	S982P	probably benign	Het
Rnd3	T	C	2: 51,038,844 (GRCm39)	I15V	probably benign	Het
Rtn3	T	C	19: 7,460,328 (GRCm39)	K41E	unknown	Het
Sap25	T	C	5: 137,639,985 (GRCm39)	S30P	probably benign	Het
Scfd2	A	T	5: 74,692,006 (GRCm39)	I92N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,108 (GRCm39)	Y106C	probably damaging	Het
Sell	T	C	1: 163,893,177 (GRCm39)	I131T	probably damaging	Het
Sesn3	T	A	9: 14,225,850 (GRCm39)	V195D	probably damaging	Het
Setdb2	A	G	14: 59,660,816 (GRCm39)	V109A	unknown	Het
Skint2	T	C	4: 112,483,054 (GRCm39)	I153T	probably benign	Het
Slc22a1	A	G	17: 12,886,142 (GRCm39)	S164P	probably damaging	Het
Sowahc	G	A	10: 59,058,305 (GRCm39)	G147D	probably benign	Het
Strip2	G	C	6: 29,931,824 (GRCm39)	G456R	probably benign	Het
Synpo	G	T	18: 60,735,472 (GRCm39)	R825S	probably damaging	Het
Tango6	A	G	8: 107,415,701 (GRCm39)	D174G	probably benign	Het
Tas1r2	T	C	4: 139,389,316 (GRCm39)	F433S	probably damaging	Het
Tas2r126	T	C	6: 42,411,877 (GRCm39)	S137P	probably benign	Het
Tbc1d15	A	G	10: 115,044,866 (GRCm39)	F512S	probably damaging	Het
Tenm3	A	T	8: 48,870,115 (GRCm39)	L226Q	probably damaging	Het
Tmod1	A	G	4: 46,078,368 (GRCm39)	T59A	probably damaging	Het
Tmprss9	T	A	10: 80,730,787 (GRCm39)	M771K	probably benign	Het
Trim29	T	C	9: 43,238,350 (GRCm39)	Y485H	possibly damaging	Het
Ttc17	T	C	2: 94,189,198 (GRCm39)	K144E	probably benign	Het
Ttc21b	A	G	2: 66,057,287 (GRCm39)	Y562H	probably benign	Het
Ugt2b5	T	C	5: 87,285,130 (GRCm39)	H269R	probably benign	Het
Utp20	A	G	10: 88,649,798 (GRCm39)	F471L	probably damaging	Het
Vmn2r120	T	A	17: 57,832,201 (GRCm39)	D196V	possibly damaging	Het
Wdr72	T	C	9: 74,117,292 (GRCm39)	V680A	probably damaging	Het
Wee1	G	A	7: 109,721,689 (GRCm39)	G45S	probably damaging	Het
Zfp1006	A	T	8: 129,944,149 (GRCm39)	D91E	unknown	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	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
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
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
R9530:Erbb3	UTSW	10	128,410,291 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGCCATCACATAAGGTTCCTCC -3'
(R):5'- GGCCTAAGACCCTGTTGTTC -3'

Sequencing Primer
(F):5'- GGACCCTCTACTGCTTAAAGAGTAG -3'
(R):5'- AAGACCCTGTTGTTCTTTTCACTG -3'

Posted On

2022-04-18