Incidental Mutation 'IGL03367:Erbb2'
ID420152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erbb2
Ensembl Gene ENSMUSG00000062312
Gene Nameerb-b2 receptor tyrosine kinase 2
Synonymsc-erbB2, c-neu, HER-2, HER2, Neu, ErbB-2, Neu oncogene
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03367
Quality Score
Status
Chromosome11
Chromosomal Location98412470-98437716 bp(+) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to T at 98422875 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058295]
Predicted Effect probably null
Transcript: ENSMUST00000058295
SMART Domains Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030419C18Rik A G 9: 58,499,098 H97R probably damaging Het
Abcc5 A T 16: 20,392,811 probably benign Het
Adra1a G A 14: 66,637,989 V138I possibly damaging Het
Alpk3 A G 7: 81,094,990 I1278V probably benign Het
Asb6 A T 2: 30,824,679 I185N possibly damaging Het
Atg9a A G 1: 75,187,957 V121A probably benign Het
Cdc42bpb A G 12: 111,336,159 Y155H probably damaging Het
Ceacam15 A C 7: 16,675,587 S8A possibly damaging Het
Cep170b T A 12: 112,737,238 D615E probably benign Het
Cntn6 G T 6: 104,804,338 G462C probably damaging Het
Col8a2 A G 4: 126,312,198 D667G probably damaging Het
Cyp2c29 A G 19: 39,329,215 K382E probably damaging Het
Dgkd T C 1: 87,940,308 probably null Het
Dkk2 C T 3: 132,178,077 T246I probably damaging Het
Dnah5 T C 15: 28,234,327 L294P possibly damaging Het
Fn1 A G 1: 71,597,553 F2147L probably benign Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm13088 C T 4: 143,655,623 V168I possibly damaging Het
Gnrhr C T 5: 86,182,331 V277I probably benign Het
H2-T10 T A 17: 36,120,393 E129V possibly damaging Het
Hmgcr T C 13: 96,665,853 T108A probably damaging Het
Hnrnph3 A T 10: 63,017,229 I196N probably damaging Het
Kcnq5 T C 1: 21,403,065 K653E probably damaging Het
Lgi2 C A 5: 52,562,160 D100Y probably damaging Het
Mettl15 T A 2: 109,131,571 H231L probably benign Het
Mthfd1l A G 10: 4,106,536 probably benign Het
Pik3cg A G 12: 32,192,121 S997P probably benign Het
Pla2g1b T C 5: 115,472,114 C105R probably damaging Het
Ppil1 A T 17: 29,252,244 probably benign Het
Rbbp8 A G 18: 11,721,719 T334A probably benign Het
Slc15a4 T C 5: 127,601,941 Y445C probably damaging Het
Sox14 A C 9: 99,875,662 I8S probably damaging Het
Spice1 A G 16: 44,356,178 T44A probably damaging Het
Sult3a1 G T 10: 33,877,346 V213L probably benign Het
Vkorc1l1 C A 5: 129,982,307 Y111* probably null Het
Wdr47 G T 3: 108,629,773 probably benign Het
Wdr90 A G 17: 25,847,791 probably benign Het
Other mutations in Erbb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Erbb2 APN 11 98435630 missense probably damaging 1.00
IGL01460:Erbb2 APN 11 98434539 missense probably damaging 1.00
IGL01483:Erbb2 APN 11 98434539 missense probably damaging 1.00
IGL01514:Erbb2 APN 11 98432919 missense possibly damaging 0.94
IGL01520:Erbb2 APN 11 98434009 missense probably benign 0.05
IGL03007:Erbb2 APN 11 98428993 splice site probably benign
Angular UTSW 11 98422770 missense probably damaging 0.98
PIT4544001:Erbb2 UTSW 11 98421039 missense probably benign
R0234:Erbb2 UTSW 11 98436439 missense probably benign 0.33
R0234:Erbb2 UTSW 11 98436439 missense probably benign 0.33
R0388:Erbb2 UTSW 11 98427351 missense possibly damaging 0.66
R0602:Erbb2 UTSW 11 98434271 missense probably damaging 1.00
R1467:Erbb2 UTSW 11 98436175 nonsense probably null
R1467:Erbb2 UTSW 11 98436175 nonsense probably null
R1500:Erbb2 UTSW 11 98428978 missense probably damaging 1.00
R1651:Erbb2 UTSW 11 98433457 missense probably damaging 1.00
R1748:Erbb2 UTSW 11 98435335 missense probably benign 0.06
R1807:Erbb2 UTSW 11 98428854 missense probably damaging 1.00
R1861:Erbb2 UTSW 11 98412737 critical splice donor site probably null
R1926:Erbb2 UTSW 11 98425164 missense probably benign
R1998:Erbb2 UTSW 11 98428953 missense probably damaging 1.00
R2051:Erbb2 UTSW 11 98420172 missense probably damaging 1.00
R3147:Erbb2 UTSW 11 98434039 missense probably damaging 1.00
R4022:Erbb2 UTSW 11 98435297 missense probably benign 0.09
R4238:Erbb2 UTSW 11 98428043 missense probably benign 0.01
R4239:Erbb2 UTSW 11 98428043 missense probably benign 0.01
R4240:Erbb2 UTSW 11 98428043 missense probably benign 0.01
R4633:Erbb2 UTSW 11 98432988 missense possibly damaging 0.91
R4725:Erbb2 UTSW 11 98425144 missense possibly damaging 0.71
R5093:Erbb2 UTSW 11 98427453 missense probably damaging 1.00
R5306:Erbb2 UTSW 11 98428206 missense probably benign 0.44
R5375:Erbb2 UTSW 11 98433412 missense probably damaging 1.00
R5518:Erbb2 UTSW 11 98422770 missense probably damaging 0.98
R5710:Erbb2 UTSW 11 98427080 missense probably damaging 1.00
R5938:Erbb2 UTSW 11 98435571 missense probably damaging 0.99
R6062:Erbb2 UTSW 11 98433249 missense probably damaging 1.00
R6116:Erbb2 UTSW 11 98427399 missense probably damaging 1.00
R6514:Erbb2 UTSW 11 98420146 missense probably benign 0.03
R6556:Erbb2 UTSW 11 98436082 missense possibly damaging 0.92
R6570:Erbb2 UTSW 11 98423047 missense possibly damaging 0.88
R6578:Erbb2 UTSW 11 98428188 missense probably damaging 1.00
R7141:Erbb2 UTSW 11 98427309 missense probably damaging 1.00
X0028:Erbb2 UTSW 11 98434301 missense probably damaging 1.00
X0062:Erbb2 UTSW 11 98423120 nonsense probably null
Posted On2016-08-02