Incidental Mutation 'R4725:Erbb2'
ID 358421
Institutional Source Beutler Lab
Gene Symbol Erbb2
Ensembl Gene ENSMUSG00000062312
Gene Name erb-b2 receptor tyrosine kinase 2
Synonyms c-neu, ErbB-2, c-erbB2, HER-2, l11Jus8, Neu, Neu oncogene, HER2
MMRRC Submission 041960-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4725 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98303310-98328542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98315970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 358 (T358A)
Ref Sequence ENSEMBL: ENSMUSP00000053897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058295]
AlphaFold P70424
Predicted Effect possibly damaging
Transcript: ENSMUST00000058295
AA Change: T358A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: T358A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Recep_L_domain 52 174 2e-32 PFAM
FU 190 231 1.88e1 SMART
FU 233 276 1.03e-6 SMART
Pfam:Recep_L_domain 367 487 2.3e-23 PFAM
FU 502 551 3.08e-5 SMART
FU 558 607 3.97e-8 SMART
transmembrane domain 654 676 N/A INTRINSIC
TyrKc 721 977 1.28e-126 SMART
low complexity region 1040 1080 N/A INTRINSIC
low complexity region 1148 1163 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158598
Meta Mutation Damage Score 0.1458 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (64/67)
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 (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit degeneration of motor nerves, an absence of Schwann cells, impairment of junctional folds at the neuromuscular synapse, and cardiac defects that results in lethality by embryonic day 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T C 9: 120,406,769 (GRCm39) probably benign Het
Adamts20 T C 15: 94,249,643 (GRCm39) E458G probably damaging Het
Adgrl3 T C 5: 81,914,052 (GRCm39) I1220T possibly damaging Het
Aldh1a1 T A 19: 20,617,445 (GRCm39) M459K probably benign Het
Bmal1 C A 7: 112,903,566 (GRCm39) P454Q possibly damaging Het
Camta1 A G 4: 151,232,953 (GRCm39) V240A probably benign Het
Ccdc88b C T 19: 6,834,481 (GRCm39) G149R probably damaging Het
Ceacam5 T C 7: 17,494,602 (GRCm39) V870A probably benign Het
Cep192 A C 18: 67,949,837 (GRCm39) Q307P probably benign Het
Cep63 T C 9: 102,467,755 (GRCm39) probably benign Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Ctdsp1 G A 1: 74,433,823 (GRCm39) V135I possibly damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dchs1 T C 7: 105,404,460 (GRCm39) D2694G probably damaging Het
Dchs1 C G 7: 105,414,759 (GRCm39) G761A probably damaging Het
Dennd5b A G 6: 148,946,277 (GRCm39) Y445H probably damaging Het
Dock1 T A 7: 134,346,743 (GRCm39) L225* probably null Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Dysf A T 6: 84,074,738 (GRCm39) N527I probably damaging Het
Fhad1 A T 4: 141,655,689 (GRCm39) probably null Het
Ganc T C 2: 120,265,754 (GRCm39) I434T probably damaging Het
Gm5830 T A 1: 78,945,549 (GRCm39) noncoding transcript Het
Gm6096 G T 7: 33,950,484 (GRCm39) E8* probably null Het
Gne A G 4: 44,066,806 (GRCm39) F63S probably benign Het
Gpat2 T C 2: 127,273,902 (GRCm39) V315A possibly damaging Het
Gpr33 A G 12: 52,070,892 (GRCm39) L49P probably damaging Het
Heatr1 C T 13: 12,439,543 (GRCm39) Q1374* probably null Het
Hivep1 A G 13: 42,316,887 (GRCm39) I2032V probably benign Het
Igkv2-112 A C 6: 68,197,450 (GRCm39) I40L probably benign Het
Kcnab3 A G 11: 69,221,294 (GRCm39) N204D probably benign Het
Kcnj10 T A 1: 172,196,726 (GRCm39) F80Y probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Loxhd1 T A 18: 77,483,153 (GRCm39) Y1245N probably damaging Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Mast1 A G 8: 85,655,635 (GRCm39) S170P possibly damaging Het
Mroh4 A G 15: 74,487,956 (GRCm39) L322P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nudcd3 A T 11: 6,143,475 (GRCm39) V1D probably damaging Het
Pah T A 10: 87,390,238 (GRCm39) L25Q probably damaging Het
Pik3cg A T 12: 32,243,596 (GRCm39) probably null Het
Pira13 A C 7: 3,824,547 (GRCm39) S611A probably benign Het
Plekha6 C A 1: 133,211,058 (GRCm39) S625Y probably damaging Het
Rtn4 T A 11: 29,658,362 (GRCm39) S839T probably damaging Het
Rusc1 A G 3: 88,998,736 (GRCm39) S349P possibly damaging Het
Samsn1 A T 16: 75,742,217 (GRCm39) noncoding transcript Het
Scimp A G 11: 70,691,539 (GRCm39) V30A probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sgip1 A G 4: 102,823,419 (GRCm39) D680G probably damaging Het
Slc44a2 G A 9: 21,259,691 (GRCm39) V613M probably damaging Het
Smpdl3b T C 4: 132,472,489 (GRCm39) T95A probably damaging Het
Spag6l A T 16: 16,610,395 (GRCm39) L85H probably damaging Het
Sucla2 T A 14: 73,806,429 (GRCm39) Y167N possibly damaging Het
Svop G T 5: 114,203,546 (GRCm39) probably benign Het
Tnxb A T 17: 34,918,041 (GRCm39) D2318V probably damaging Het
Trbv14 A G 6: 41,112,332 (GRCm39) D43G probably benign Het
Ubn2 A G 6: 38,499,240 (GRCm39) probably benign Het
Ufsp1 T C 5: 137,293,569 (GRCm39) I173T probably damaging Het
Zbtb40 A G 4: 136,746,072 (GRCm39) probably benign Het
Other mutations in Erbb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Erbb2 APN 11 98,326,456 (GRCm39) missense probably damaging 1.00
IGL01460:Erbb2 APN 11 98,325,365 (GRCm39) missense probably damaging 1.00
IGL01483:Erbb2 APN 11 98,325,365 (GRCm39) missense probably damaging 1.00
IGL01514:Erbb2 APN 11 98,323,745 (GRCm39) missense possibly damaging 0.94
IGL01520:Erbb2 APN 11 98,324,835 (GRCm39) missense probably benign 0.05
IGL03007:Erbb2 APN 11 98,319,819 (GRCm39) splice site probably benign
IGL03367:Erbb2 APN 11 98,313,701 (GRCm39) splice site probably null
Angular UTSW 11 98,313,596 (GRCm39) missense probably damaging 0.98
PIT4544001:Erbb2 UTSW 11 98,311,865 (GRCm39) missense probably benign
R0234:Erbb2 UTSW 11 98,327,265 (GRCm39) missense probably benign 0.33
R0234:Erbb2 UTSW 11 98,327,265 (GRCm39) missense probably benign 0.33
R0388:Erbb2 UTSW 11 98,318,177 (GRCm39) missense possibly damaging 0.66
R0602:Erbb2 UTSW 11 98,325,097 (GRCm39) missense probably damaging 1.00
R1467:Erbb2 UTSW 11 98,327,001 (GRCm39) nonsense probably null
R1467:Erbb2 UTSW 11 98,327,001 (GRCm39) nonsense probably null
R1500:Erbb2 UTSW 11 98,319,804 (GRCm39) missense probably damaging 1.00
R1651:Erbb2 UTSW 11 98,324,283 (GRCm39) missense probably damaging 1.00
R1748:Erbb2 UTSW 11 98,326,161 (GRCm39) missense probably benign 0.06
R1807:Erbb2 UTSW 11 98,319,680 (GRCm39) missense probably damaging 1.00
R1861:Erbb2 UTSW 11 98,303,563 (GRCm39) critical splice donor site probably null
R1926:Erbb2 UTSW 11 98,315,990 (GRCm39) missense probably benign
R1998:Erbb2 UTSW 11 98,319,779 (GRCm39) missense probably damaging 1.00
R2051:Erbb2 UTSW 11 98,310,998 (GRCm39) missense probably damaging 1.00
R3147:Erbb2 UTSW 11 98,324,865 (GRCm39) missense probably damaging 1.00
R4022:Erbb2 UTSW 11 98,326,123 (GRCm39) missense probably benign 0.09
R4238:Erbb2 UTSW 11 98,318,869 (GRCm39) missense probably benign 0.01
R4239:Erbb2 UTSW 11 98,318,869 (GRCm39) missense probably benign 0.01
R4240:Erbb2 UTSW 11 98,318,869 (GRCm39) missense probably benign 0.01
R4633:Erbb2 UTSW 11 98,323,814 (GRCm39) missense possibly damaging 0.91
R5093:Erbb2 UTSW 11 98,318,279 (GRCm39) missense probably damaging 1.00
R5306:Erbb2 UTSW 11 98,319,032 (GRCm39) missense probably benign 0.44
R5375:Erbb2 UTSW 11 98,324,238 (GRCm39) missense probably damaging 1.00
R5518:Erbb2 UTSW 11 98,313,596 (GRCm39) missense probably damaging 0.98
R5710:Erbb2 UTSW 11 98,317,906 (GRCm39) missense probably damaging 1.00
R5938:Erbb2 UTSW 11 98,326,397 (GRCm39) missense probably damaging 0.99
R6062:Erbb2 UTSW 11 98,324,075 (GRCm39) missense probably damaging 1.00
R6116:Erbb2 UTSW 11 98,318,225 (GRCm39) missense probably damaging 1.00
R6514:Erbb2 UTSW 11 98,310,972 (GRCm39) missense probably benign 0.03
R6556:Erbb2 UTSW 11 98,326,908 (GRCm39) missense possibly damaging 0.92
R6570:Erbb2 UTSW 11 98,313,873 (GRCm39) missense possibly damaging 0.88
R6578:Erbb2 UTSW 11 98,319,014 (GRCm39) missense probably damaging 1.00
R7141:Erbb2 UTSW 11 98,318,135 (GRCm39) missense probably damaging 1.00
R7686:Erbb2 UTSW 11 98,326,399 (GRCm39) missense probably benign
R8274:Erbb2 UTSW 11 98,324,722 (GRCm39) missense probably damaging 1.00
R8439:Erbb2 UTSW 11 98,319,798 (GRCm39) missense possibly damaging 0.89
R9142:Erbb2 UTSW 11 98,312,884 (GRCm39) missense probably damaging 1.00
R9287:Erbb2 UTSW 11 98,326,107 (GRCm39) missense probably damaging 0.98
R9489:Erbb2 UTSW 11 98,311,746 (GRCm39) missense possibly damaging 0.54
R9599:Erbb2 UTSW 11 98,318,216 (GRCm39) missense probably benign 0.04
R9605:Erbb2 UTSW 11 98,311,746 (GRCm39) missense possibly damaging 0.54
R9652:Erbb2 UTSW 11 98,326,812 (GRCm39) missense probably damaging 0.96
X0028:Erbb2 UTSW 11 98,325,127 (GRCm39) missense probably damaging 1.00
X0062:Erbb2 UTSW 11 98,313,946 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGCCCAACTCTTGCTTAGAC -3'
(R):5'- TGATCACCACATTACGTCCC -3'

Sequencing Primer
(F):5'- CCTCTCCGGAGCAGTCTC -3'
(R):5'- CCCCGCCTGTGGATTAAATGATATG -3'
Posted On 2015-11-11