Incidental Mutation 'R4633:Erbb2'
ID 349368
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 041898-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4633 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98303310-98328542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98323814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 676 (I676N)
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 possibly damaging
Transcript: ENSMUST00000058295
AA Change: I676N

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: I676N

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
Meta Mutation Damage Score 0.3283 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 95% (73/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,503 (GRCm39) L786Q probably null Het
Abcb6 A T 1: 75,154,426 (GRCm39) probably benign Het
Alg10b T C 15: 90,112,497 (GRCm39) V447A probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
B4galt7 A G 13: 55,756,563 (GRCm39) H203R probably damaging Het
Cd44 T G 2: 102,683,392 (GRCm39) D214A possibly damaging Het
Ces1c T C 8: 93,845,014 (GRCm39) D275G probably benign Het
Cnot11 G T 1: 39,575,299 (GRCm39) W127L probably benign Het
Csmd1 A G 8: 16,052,620 (GRCm39) I2168T probably damaging Het
Cyp3a59 T C 5: 146,031,248 (GRCm39) F137S probably damaging Het
Dst T A 1: 34,209,515 (GRCm39) L1234Q probably damaging Het
Erlin1 G A 19: 44,029,204 (GRCm39) R243C probably damaging Het
Fanci T C 7: 79,076,990 (GRCm39) L576P probably damaging Het
Fzd1 A T 5: 4,805,865 (GRCm39) Y572* probably null Het
Glg1 C T 8: 111,904,276 (GRCm39) probably null Het
Gpr139 A T 7: 118,743,628 (GRCm39) I319N probably damaging Het
Hectd4 C A 5: 121,487,279 (GRCm39) H3425N probably benign Het
Itga10 A G 3: 96,555,020 (GRCm39) D118G possibly damaging Het
Klra13-ps T G 6: 130,268,136 (GRCm39) noncoding transcript Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Krt5 T A 15: 101,620,042 (GRCm39) D225V probably damaging Het
Krtap4-9 G T 11: 99,676,380 (GRCm39) probably benign Het
Lama1 C A 17: 68,105,579 (GRCm39) A2029E probably damaging Het
Lrp2 T A 2: 69,291,761 (GRCm39) T3473S probably benign Het
Lrrc37 A T 11: 103,509,957 (GRCm39) probably benign Het
Lrriq1 G A 10: 103,036,424 (GRCm39) R910* probably null Het
Map1b C T 13: 99,571,450 (GRCm39) V424M probably damaging Het
Mrtfb T C 16: 13,197,737 (GRCm39) I85T possibly damaging Het
Mylk2 T C 2: 152,759,335 (GRCm39) S369P probably benign Het
Myom3 T G 4: 135,503,010 (GRCm39) F362L probably benign Het
Nomo1 A G 7: 45,699,684 (GRCm39) probably benign Het
Or10s1 T A 9: 39,985,630 (GRCm39) V13E probably damaging Het
Or1p1 T G 11: 74,180,120 (GRCm39) M216R probably benign Het
Or2l13b C T 16: 19,349,034 (GRCm39) G212D possibly damaging Het
Or2w4 A G 13: 21,795,398 (GRCm39) V247A probably damaging Het
Parp4 C T 14: 56,885,048 (GRCm39) L1376F unknown Het
Phykpl C A 11: 51,484,435 (GRCm39) A208E probably damaging Het
Pla2g15 T C 8: 106,886,887 (GRCm39) F126S probably damaging Het
Polq T G 16: 36,868,904 (GRCm39) M479R probably damaging Het
Prpf4b A G 13: 35,084,425 (GRCm39) T938A probably damaging Het
Psma1 A G 7: 113,870,369 (GRCm39) M63T probably damaging Het
Rbpms2 T C 9: 65,558,918 (GRCm39) S174P probably benign Het
Rcc1 G T 4: 132,063,080 (GRCm39) S162R probably damaging Het
Rev3l T G 10: 39,722,182 (GRCm39) L2520R probably damaging Het
Rhobtb1 T A 10: 69,085,443 (GRCm39) probably null Het
Rps19 G T 7: 24,588,595 (GRCm39) probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Selenof C T 3: 144,302,622 (GRCm39) R116* probably null Het
Slc16a11 T C 11: 70,107,205 (GRCm39) probably null Het
Stk3 A G 15: 34,959,074 (GRCm39) V296A probably damaging Het
Taar8b C A 10: 23,968,150 (GRCm39) E15* probably null Het
Tas2r102 T A 6: 132,739,642 (GRCm39) N183K possibly damaging Het
Tet2 T A 3: 133,191,310 (GRCm39) E1041D probably benign Het
Tm9sf1 A G 14: 55,878,660 (GRCm39) V244A probably damaging Het
Trgc4 G T 13: 19,536,457 (GRCm39) V172F probably benign Het
Trim24 T A 6: 37,933,371 (GRCm39) I650K probably damaging Het
Trim59 G T 3: 68,944,747 (GRCm39) Q198K probably benign Het
Ttc28 C T 5: 111,371,867 (GRCm39) T772I probably damaging Het
Tvp23a C T 16: 10,244,909 (GRCm39) V146M probably benign Het
Usp17la A T 7: 104,509,428 (GRCm39) D11V possibly damaging Het
Usp48 A G 4: 137,362,211 (GRCm39) K32R probably damaging Het
Uspl1 A G 5: 149,151,202 (GRCm39) K801E probably damaging Het
Utp20 T C 10: 88,588,814 (GRCm39) I2452V probably benign Het
Vps18 T C 2: 119,123,757 (GRCm39) L228P probably damaging Het
Yju2b T C 8: 84,987,024 (GRCm39) T158A probably benign Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp872 G T 9: 22,108,490 (GRCm39) probably null Het
Zswim8 A G 14: 20,768,891 (GRCm39) E1110G 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
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
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'- TAACAAGGTGGGTTATCTCCTG -3'
(R):5'- TTAGGATCCGCATCTGAGCC -3'

Sequencing Primer
(F):5'- ATCTCCTGTGAAGTTTTTGAGCCAAG -3'
(R):5'- ATCCGCATCTGAGCCTGGTTG -3'
Posted On 2015-10-08