Incidental Mutation 'R1222:Erbb3'
ID 152772
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 039291-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1222 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128403392-128425504 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 128407534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 938 (V938G)
Ref Sequence ENSEMBL: ENSMUSP00000080716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082059]
AlphaFold Q61526
Predicted Effect probably damaging
Transcript: ENSMUST00000082059
AA Change: V938G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080716
Gene: ENSMUSG00000018166
AA Change: V938G

DomainStartEndE-ValueType
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 0.9433 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 96% (54/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,784,682 (GRCm39) L385* probably null Het
Abca9 T C 11: 110,035,890 (GRCm39) probably benign Het
Abl1 T C 2: 31,691,006 (GRCm39) S842P probably benign Het
Agrn C A 4: 156,261,842 (GRCm39) V483L probably damaging Het
Ankrd13a T A 5: 114,938,824 (GRCm39) C365* probably null Het
Ap2b1 T C 11: 83,237,564 (GRCm39) S543P probably benign Het
Atic C T 1: 71,598,438 (GRCm39) T67I probably damaging Het
Bhmt1b A G 18: 87,775,458 (GRCm39) K327R probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cux1 C T 5: 136,304,003 (GRCm39) R1391Q probably benign Het
Cyp2a4 T C 7: 26,008,013 (GRCm39) V140A possibly damaging Het
Dlgap3 A T 4: 127,088,406 (GRCm39) M1L probably null Het
Dnah3 T C 7: 119,689,899 (GRCm39) D2G probably benign Het
Fam13a C T 6: 58,912,707 (GRCm39) probably benign Het
Gata2 G A 6: 88,177,323 (GRCm39) V118I probably benign Het
Gm2663 T C 6: 40,972,975 (GRCm39) I211V probably benign Het
Izumo3 T A 4: 92,033,284 (GRCm39) N104I probably damaging Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Mctp2 T A 7: 71,908,887 (GRCm39) H142L probably benign Het
Mmp10 T C 9: 7,505,682 (GRCm39) probably benign Het
Mroh8 G A 2: 157,083,774 (GRCm39) probably benign Het
Mylk T C 16: 34,681,022 (GRCm39) V94A probably benign Het
Nol6 A T 4: 41,120,760 (GRCm39) N396K probably benign Het
Nr4a2 A T 2: 56,998,336 (GRCm39) N543K probably damaging Het
Nynrin T C 14: 56,100,998 (GRCm39) S263P probably benign Het
Or10ag53 G T 2: 87,082,766 (GRCm39) G162C probably benign Het
Or1e35 A T 11: 73,798,240 (GRCm39) L26H probably damaging Het
Or5p68 T A 7: 107,945,313 (GRCm39) I292F probably damaging Het
Or7d10 G A 9: 19,832,344 (GRCm39) V280I possibly damaging Het
Pkhd1 T A 1: 20,637,680 (GRCm39) R368S probably benign Het
Plekhg4 G A 8: 106,105,742 (GRCm39) A736T probably benign Het
Plxna2 A G 1: 194,482,957 (GRCm39) D1550G probably damaging Het
Qrfpr C A 3: 36,234,244 (GRCm39) G366W probably damaging Het
Qser1 C A 2: 104,607,776 (GRCm39) A1471S probably damaging Het
Rars1 A T 11: 35,700,567 (GRCm39) Y505N probably damaging Het
Reln T A 5: 22,191,953 (GRCm39) T1496S probably null Het
Rrs1 T C 1: 9,616,080 (GRCm39) L111P probably benign Het
Selplg C T 5: 113,957,434 (GRCm39) V291M possibly damaging Het
Serpinb1c T A 13: 33,080,934 (GRCm39) T50S possibly damaging Het
Slc4a5 A G 6: 83,257,114 (GRCm39) K640E probably damaging Het
Szt2 A T 4: 118,262,656 (GRCm39) H40Q possibly damaging Het
Taar4 C T 10: 23,837,230 (GRCm39) T280I probably benign Het
Tdo2 A G 3: 81,868,775 (GRCm39) probably null Het
Tpp1 T C 7: 105,395,948 (GRCm39) N527S probably benign Het
Trim43c A T 9: 88,725,131 (GRCm39) T218S possibly damaging Het
Trim45 G T 3: 100,834,614 (GRCm39) M432I probably benign Het
Ubr4 T C 4: 139,115,782 (GRCm39) probably null Het
Vat1l T C 8: 115,009,101 (GRCm39) probably benign Het
Xpo7 A T 14: 70,904,524 (GRCm39) H1037Q possibly damaging Het
Zmiz1 T C 14: 25,658,520 (GRCm39) probably benign Het
Other mutations in Erbb3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CGGGCCATCCTGGTAAACTCATTG -3'
(R):5'- CGGTAAGCACCCCTTTGTCATCAC -3'

Sequencing Primer
(F):5'- AGATGTAGGAGGTTGAGCCA -3'
(R):5'- tgggaggcagaggcagg -3'
Posted On 2014-01-29