Incidental Mutation 'IGL03007:Erbb2'
ID407614
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 #IGL03007
Quality Score
Status
Chromosome11
Chromosomal Location98412470-98437716 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 98428993 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058295]
Predicted Effect probably benign
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
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
9330159F19Rik A G 10: 29,222,038 N144D possibly damaging Het
A830010M20Rik T A 5: 107,503,676 V145E probably benign Het
A830031A19Rik T C 11: 24,049,248 probably benign Het
Ankfy1 T C 11: 72,750,521 F640S probably damaging Het
Asb8 A G 15: 98,142,734 Y16H probably damaging Het
Astn1 T C 1: 158,668,623 probably benign Het
Celf3 A G 3: 94,487,137 T183A probably benign Het
Dctn1 T C 6: 83,182,708 V56A probably damaging Het
Ighv6-4 A T 12: 114,406,593 Y80N possibly damaging Het
Igsf9b T C 9: 27,333,082 S782P probably damaging Het
Itsn1 A T 16: 91,784,162 probably benign Het
Kcnt2 T A 1: 140,354,507 Y77N possibly damaging Het
Lig3 T C 11: 82,789,575 F359S probably damaging Het
Mtmr6 G T 14: 60,289,535 probably benign Het
Muc4 C T 16: 32,752,048 S642F possibly damaging Het
Ncoa1 T A 12: 4,339,114 I54F possibly damaging Het
Nfx1 C A 4: 40,984,962 T362K probably benign Het
Ntrk1 T C 3: 87,782,743 S449G possibly damaging Het
Odc1 T A 12: 17,548,810 H230Q probably benign Het
Olfr26 C T 9: 38,855,296 T78I probably damaging Het
Olfr348 T C 2: 36,786,800 S92P probably damaging Het
Olfr63 A G 17: 33,268,883 E53G probably damaging Het
Olfr963 T C 9: 39,669,471 V138A possibly damaging Het
Plekhh2 A C 17: 84,574,960 S665R possibly damaging Het
Qpct T A 17: 79,070,865 F155I probably damaging Het
Rcor2 C A 19: 7,274,353 T379K probably benign Het
Rint1 A G 5: 23,815,701 N574S probably benign Het
Rsbn1 C T 3: 103,928,879 A411V probably damaging Het
Sbno2 A T 10: 80,058,550 probably benign Het
Sptb A G 12: 76,621,341 S661P probably damaging Het
Syn3 A T 10: 86,064,914 M370K possibly damaging Het
Tex101 G A 7: 24,670,481 probably benign Het
Tmem255b C T 8: 13,457,066 T265I possibly damaging Het
Trio G T 15: 27,902,742 A211D probably damaging Het
Zfp638 C A 6: 83,984,884 Q1902K probably damaging 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
IGL03367:Erbb2 APN 11 98422875 splice site probably null
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
R7686:Erbb2 UTSW 11 98435573 missense probably benign
X0028:Erbb2 UTSW 11 98434301 missense probably damaging 1.00
X0062:Erbb2 UTSW 11 98423120 nonsense probably null
Posted On2016-08-02