Incidental Mutation 'R4022:Erbb2'
ID 313313
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 040956-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4022 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98303310-98328542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 98326123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 966 (C966W)
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 benign
Transcript: ENSMUST00000058295
AA Change: C966W

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: C966W

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
Meta Mutation Damage Score 0.3945 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T A 2: 26,733,812 (GRCm39) Y131F probably damaging Het
Adcy4 C T 14: 56,012,635 (GRCm39) probably null Het
Ago3 T A 4: 126,262,386 (GRCm39) N388I probably benign Het
Arfgef2 G T 2: 166,715,865 (GRCm39) V1385L probably benign Het
Camk2a A T 18: 61,097,000 (GRCm39) K28* probably null Het
Ccdc180 T A 4: 45,904,560 (GRCm39) Y385* probably null Het
Cd209g A T 8: 4,185,955 (GRCm39) Q46L possibly damaging Het
Cdh22 T C 2: 164,999,173 (GRCm39) T220A probably benign Het
Cltc A T 11: 86,611,174 (GRCm39) C562S probably damaging Het
Cyp2c55 T A 19: 39,023,878 (GRCm39) probably null Het
Cyp2d34 A G 15: 82,502,809 (GRCm39) V139A probably benign Het
Ddias G T 7: 92,510,686 (GRCm39) D105E possibly damaging Het
Dhx30 T C 9: 109,913,465 (GRCm39) D1223G possibly damaging Het
Dnajb11 A G 16: 22,688,196 (GRCm39) D238G probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Exoc1 C T 5: 76,697,417 (GRCm39) T405I possibly damaging Het
Fbxo28 T C 1: 182,157,475 (GRCm39) N108S possibly damaging Het
Fhdc1 T C 3: 84,352,409 (GRCm39) E157G probably benign Het
Gstcd C T 3: 132,787,829 (GRCm39) V290M probably damaging Het
Hps3 A G 3: 20,089,425 (GRCm39) V2A possibly damaging Het
Ilrun T C 17: 28,005,236 (GRCm39) E107G probably damaging Het
Itsn2 G A 12: 4,674,927 (GRCm39) R23H probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lax1 C T 1: 133,610,774 (GRCm39) G105S probably benign Het
Lin7c G T 2: 109,726,790 (GRCm39) probably null Het
Lrrn2 T C 1: 132,866,852 (GRCm39) V639A probably benign Het
Luzp1 T C 4: 136,269,504 (GRCm39) S576P probably benign Het
Mast4 G T 13: 102,990,377 (GRCm39) A48E probably damaging Het
Mast4 G A 13: 102,875,829 (GRCm39) R1112* probably null Het
Mat2a G A 6: 72,413,227 (GRCm39) R168C probably damaging Het
Megf8 T C 7: 25,037,200 (GRCm39) V700A probably damaging Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Myh2 G T 11: 67,070,230 (GRCm39) E421* probably null Het
Or12d2 T A 17: 37,625,165 (GRCm39) I37L probably benign Het
Or5k17 T C 16: 58,746,483 (GRCm39) I150M possibly damaging Het
Pecam1 T C 11: 106,545,986 (GRCm39) N693D probably benign Het
Ppip5k1 C T 2: 121,168,108 (GRCm39) R715H probably damaging Het
Prune2 A G 19: 16,977,384 (GRCm39) T40A probably damaging Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Reln T C 5: 22,432,628 (GRCm39) Q124R probably benign Het
Rnf17 C T 14: 56,697,458 (GRCm39) H451Y probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Sall3 T A 18: 81,013,055 (GRCm39) E1127V probably benign Het
Sertad3 A G 7: 27,176,120 (GRCm39) N185D probably damaging Het
Sox1 A G 8: 12,446,719 (GRCm39) Y120C probably damaging Het
Spag17 A T 3: 99,956,546 (GRCm39) I881F probably benign Het
Spart G T 3: 55,025,157 (GRCm39) V251L probably damaging Het
Stard9 A G 2: 120,534,636 (GRCm39) E3631G probably benign Het
Syde2 A G 3: 145,721,480 (GRCm39) T848A probably benign Het
Tmem11 T C 11: 60,756,154 (GRCm39) D12G possibly damaging Het
Trim28 T C 7: 12,762,485 (GRCm39) probably benign Het
Tsen2 T A 6: 115,524,948 (GRCm39) V49E probably damaging Het
Tspan1 C T 4: 116,024,232 (GRCm39) M10I probably benign Het
Uncx A T 5: 139,532,444 (GRCm39) T170S probably damaging Het
Usp24 T C 4: 106,236,421 (GRCm39) probably benign Het
Vmn1r84 T C 7: 12,095,857 (GRCm39) I267V probably benign Het
Zfp488 T A 14: 33,693,110 (GRCm39) M18L 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
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
Predicted Primers PCR Primer
(F):5'- GTGCCTTACCTATTCACAGTGG -3'
(R):5'- AAGGGTTCACCGAGCTTTGG -3'

Sequencing Primer
(F):5'- ATTCACAGTGGAAGTCCTGC -3'
(R):5'- GCTAGAGGCAGGGGCTATC -3'
Posted On 2015-04-30