Incidental Mutation 'R0234:Erbb2'
ID 59055
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 038475-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0234 (G1)
Quality Score 223
Status Not validated
Chromosome 11
Chromosomal Location 98303310-98328542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98327265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1181 (V1181A)
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: V1181A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: V1181A

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.1%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A G 4: 128,660,941 (GRCm39) R197G possibly damaging Het
Acacb A T 5: 114,347,878 (GRCm39) H983L probably damaging Het
Adal T A 2: 120,978,798 (GRCm39) D139E probably benign Het
Adam6b G A 12: 113,454,230 (GRCm39) R349H probably damaging Het
Agap1 A G 1: 89,598,934 (GRCm39) K331E probably damaging Het
Alyref T C 11: 120,489,133 (GRCm39) D11G probably damaging Het
B3gat1 A G 9: 26,667,377 (GRCm39) E203G probably damaging Het
Bsn T C 9: 107,993,595 (GRCm39) E719G possibly damaging Het
Cap2 G C 13: 46,791,498 (GRCm39) probably null Het
Ccni A G 5: 93,350,186 (GRCm39) V31A probably benign Het
Cdcp3 T A 7: 130,796,032 (GRCm39) probably null Het
Cfap54 A T 10: 92,735,022 (GRCm39) L2343* probably null Het
Clns1a T A 7: 97,363,239 (GRCm39) Y204N possibly damaging Het
Cox11 C T 11: 90,535,326 (GRCm39) T259I probably damaging Het
Dsp A G 13: 38,371,869 (GRCm39) N940S probably benign Het
Exoc4 T C 6: 33,839,022 (GRCm39) V686A possibly damaging Het
F830045P16Rik A G 2: 129,305,384 (GRCm39) V330A possibly damaging Het
Fbf1 A C 11: 116,045,860 (GRCm39) F245V probably damaging Het
Fut10 T A 8: 31,726,225 (GRCm39) F327I probably damaging Het
Galnt1 C T 18: 24,387,690 (GRCm39) P144S probably damaging Het
Garin4 T C 1: 190,895,105 (GRCm39) S513G probably benign Het
Ghrhr A T 6: 55,356,171 (GRCm39) D88V possibly damaging Het
Greb1l T A 18: 10,560,331 (GRCm39) C1864S probably damaging Het
H1f2 T C 13: 23,923,106 (GRCm39) I92T probably benign Het
Hps1 T C 19: 42,750,992 (GRCm39) E336G probably damaging Het
Ibsp GGAAGAAGAAGAAGAAGA GGAAGAAGAAGAAGA 5: 104,457,935 (GRCm39) probably benign Het
Irgc C A 7: 24,132,753 (GRCm39) E21D possibly damaging Het
Itsn1 A T 16: 91,625,168 (GRCm39) R590* probably null Het
Katnip T C 7: 125,394,557 (GRCm39) V211A probably benign Het
Lmln T C 16: 32,886,694 (GRCm39) V67A probably damaging Het
Lsm14a T C 7: 34,065,042 (GRCm39) Q179R probably damaging Het
Ltbr A C 6: 125,289,836 (GRCm39) D119E probably benign Het
Mrc1 A G 2: 14,284,705 (GRCm39) T565A possibly damaging Het
Muc6 A C 7: 141,235,939 (GRCm39) N473K possibly damaging Het
Myocd A T 11: 65,078,066 (GRCm39) D448E probably benign Het
Neil2 T A 14: 63,420,975 (GRCm39) I239F probably damaging Het
Npnt A G 3: 132,620,175 (GRCm39) F123S possibly damaging Het
Or2g25 T A 17: 37,970,997 (GRCm39) I76F probably damaging Het
Or4f15 T C 2: 111,813,645 (GRCm39) Y258C probably damaging Het
Or52x1 C A 7: 104,852,821 (GRCm39) C243F probably damaging Het
Or56a5 T C 7: 104,793,281 (GRCm39) D73G probably damaging Het
Or5d37 T A 2: 87,923,366 (GRCm39) R305* probably null Het
Or8d1b A C 9: 38,887,547 (GRCm39) probably null Het
Or9i2 C T 19: 13,815,902 (GRCm39) V212M possibly damaging Het
Pcnx3 T C 19: 5,722,646 (GRCm39) T941A probably benign Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Pitrm1 C A 13: 6,625,115 (GRCm39) Y864* probably null Het
Plcb4 T C 2: 135,823,995 (GRCm39) I844T probably benign Het
Plekhg5 T C 4: 152,196,676 (GRCm39) C695R probably damaging Het
Ppp1r3b T A 8: 35,851,655 (GRCm39) F165I probably damaging Het
Prr5 T A 15: 84,587,322 (GRCm39) F357L probably damaging Het
Rasgrf1 A T 9: 89,891,419 (GRCm39) I1046F probably damaging Het
Rbm15b T C 9: 106,762,563 (GRCm39) Y535C probably damaging Het
Rbp3 A T 14: 33,677,858 (GRCm39) E602V probably damaging Het
Rimklb T C 6: 122,433,292 (GRCm39) N343S probably benign Het
Rrp12 A G 19: 41,860,199 (GRCm39) L1008P probably damaging Het
Sec63 C T 10: 42,674,794 (GRCm39) R226C probably damaging Het
Sirpa T C 2: 129,457,388 (GRCm39) V154A probably damaging Het
Slc13a5 C G 11: 72,141,626 (GRCm39) V405L probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc22a23 G A 13: 34,367,244 (GRCm39) T588I probably damaging Het
Slc22a27 C A 19: 7,904,156 (GRCm39) probably benign Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc5a5 A T 8: 71,342,277 (GRCm39) M258K probably damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Stk11ip A G 1: 75,505,711 (GRCm39) D460G possibly damaging Het
Syn3 T A 10: 86,284,750 (GRCm39) I117F possibly damaging Het
Tead4 C T 6: 128,220,365 (GRCm39) A224T probably damaging Het
Tmtc3 A T 10: 100,286,184 (GRCm39) N546K probably benign Het
Tnn T A 1: 159,916,036 (GRCm39) H1227L probably damaging Het
Tor2a G A 2: 32,648,716 (GRCm39) G62D probably damaging Het
Trf T C 9: 103,104,078 (GRCm39) probably null Het
Ubr5 T C 15: 37,968,737 (GRCm39) T2727A probably damaging Het
Vmn2r27 T A 6: 124,208,578 (GRCm39) T56S probably benign Het
Wipf3 T G 6: 54,473,486 (GRCm39) L458R probably damaging Het
Zfp236 T C 18: 82,648,119 (GRCm39) K966R probably damaging Het
Zfp27 T A 7: 29,593,532 (GRCm39) H811L possibly damaging Het
Zfp366 A G 13: 99,370,768 (GRCm39) H496R probably damaging Het
Zfp467 A T 6: 48,415,689 (GRCm39) V321E probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TACACCCACTGAGGGGCAATGATG -3'
(R):5'- TCCCCACTCTGAAGACAGAGGATG -3'

Sequencing Primer
(F):5'- TGGGGCAGGAATATCTTGGAC -3'
(R):5'- ACATGTGACCTCATACTGGC -3'
Posted On 2013-07-11