Incidental Mutation 'IGL00978:Erbb2'
ID 28656
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00978
Quality Score
Status
Chromosome 11
Chromosomal Location 98303310-98328542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98326456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1027 (P1027S)
Ref Sequence ENSEMBL: ENSMUSP00000053897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002655] [ENSMUST00000058295]
AlphaFold P70424
Predicted Effect probably benign
Transcript: ENSMUST00000002655
SMART Domains Protein: ENSMUSP00000002655
Gene: ENSMUSG00000002580

DomainStartEndE-ValueType
Pfam:Rdx 23 96 1.6e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000058295
AA Change: P1027S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: P1027S

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: ENSMUST00000154452
Coding Region Coverage
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 (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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009L18Rik T C 11: 120,241,773 (GRCm39) probably benign Het
Alpk2 A T 18: 65,424,605 (GRCm39) probably benign Het
Angptl8 T C 9: 21,748,349 (GRCm39) probably benign Het
AU040320 T A 4: 126,722,632 (GRCm39) D383E probably benign Het
Cep97 C T 16: 55,745,323 (GRCm39) probably benign Het
Clcn4 A T 7: 7,290,672 (GRCm39) L649H probably damaging Het
Col5a2 T C 1: 45,415,899 (GRCm39) N1416S probably benign Het
Eya1 A G 1: 14,340,925 (GRCm39) probably benign Het
Gfm2 T C 13: 97,299,485 (GRCm39) I402T probably benign Het
Gmeb2 A T 2: 180,900,836 (GRCm39) V187E probably benign Het
Hectd1 T C 12: 51,838,173 (GRCm39) H662R possibly damaging Het
Ifne T C 4: 88,798,268 (GRCm39) Q50R probably benign Het
Kidins220 A G 12: 25,107,473 (GRCm39) D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 (GRCm39) D146V probably damaging Het
Krt36 T C 11: 99,993,774 (GRCm39) I355V probably damaging Het
Lrrcc1 T A 3: 14,601,188 (GRCm39) S73R possibly damaging Het
Ltbp3 A T 19: 5,804,047 (GRCm39) H853L probably benign Het
Map3k5 G A 10: 20,017,313 (GRCm39) R1369Q probably damaging Het
Mcm8 A G 2: 132,663,326 (GRCm39) N148S probably benign Het
Mylk3 A T 8: 86,082,155 (GRCm39) L211* probably null Het
Nras T C 3: 102,966,232 (GRCm39) probably benign Het
Or2n1c A T 17: 38,519,873 (GRCm39) I246F probably damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Os9 A T 10: 126,956,378 (GRCm39) Y66N probably damaging Het
Pitpnm1 A G 19: 4,151,228 (GRCm39) D15G possibly damaging Het
Reg3a A T 6: 78,359,284 (GRCm39) R95* probably null Het
Rnf17 C T 14: 56,749,728 (GRCm39) P1425S probably damaging Het
Smad2 T C 18: 76,432,846 (GRCm39) probably benign Het
Ttll5 C T 12: 85,980,256 (GRCm39) Q76* probably null Het
Uri1 A T 7: 37,696,156 (GRCm39) probably benign Het
Vmn2r102 G T 17: 19,899,185 (GRCm39) probably null Het
Vmn2r70 T G 7: 85,213,007 (GRCm39) M467L probably benign Het
Zfp318 T A 17: 46,724,652 (GRCm39) D2218E possibly damaging Het
Zfp692 T C 11: 58,204,855 (GRCm39) I405T possibly damaging Het
Zfp692 A G 11: 58,200,824 (GRCm39) H235R possibly damaging Het
Other mutations in Erbb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4725:Erbb2 UTSW 11 98,315,970 (GRCm39) missense possibly damaging 0.71
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
Posted On 2013-04-17