Incidental Mutation 'R7593:Erbb4'
ID 587488
Institutional Source Beutler Lab
Gene Symbol Erbb4
Ensembl Gene ENSMUSG00000062209
Gene Name erb-b2 receptor tyrosine kinase 4
Synonyms Her4, ErbB4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7593 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 68071345-69147218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 68293758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 711 (R711L)
Ref Sequence ENSEMBL: ENSMUSP00000114123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119142] [ENSMUST00000121473] [ENSMUST00000153432]
AlphaFold Q61527
Predicted Effect probably damaging
Transcript: ENSMUST00000119142
AA Change: R711L

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: R711L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Recep_L_domain 55 167 5e-34 PFAM
FU 183 223 2.07e1 SMART
FU 226 268 5.78e-10 SMART
Pfam:Recep_L_domain 358 478 1e-29 PFAM
FU 493 544 6.45e-8 SMART
FU 549 599 3.51e-9 SMART
FU 611 659 2.32e0 SMART
TyrKc 718 974 7.53e-133 SMART
low complexity region 1007 1023 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121473
AA Change: R711L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: R711L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Recep_L_domain 55 167 1.6e-34 PFAM
FU 183 223 2.07e1 SMART
FU 226 268 5.78e-10 SMART
Pfam:Recep_L_domain 358 478 5.5e-29 PFAM
FU 493 544 6.45e-8 SMART
FU 549 599 3.51e-9 SMART
FU 611 659 2.32e0 SMART
TyrKc 718 974 7.53e-133 SMART
low complexity region 1007 1023 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000153432
AA Change: R701L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115373
Gene: ENSMUSG00000062209
AA Change: R701L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Recep_L_domain 55 167 1.7e-34 PFAM
FU 183 223 2.07e1 SMART
FU 226 268 5.78e-10 SMART
Pfam:Recep_L_domain 358 478 5.7e-29 PFAM
FU 493 544 6.45e-8 SMART
FU 549 599 3.51e-9 SMART
FU 611 649 2.98e0 SMART
PDB:2R4B|B 680 732 1e-25 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted(6) Gene trapped(1)

Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,774 (GRCm39) A170V probably damaging Het
Acp6 A T 3: 97,073,266 (GRCm39) E102D probably benign Het
Acss1 T A 2: 150,461,688 (GRCm39) R632* probably null Het
Adamtsl1 G T 4: 86,259,450 (GRCm39) C832F probably damaging Het
Adgrg6 T G 10: 14,344,573 (GRCm39) M127L probably damaging Het
Alkbh1 A T 12: 87,487,095 (GRCm39) Y91* probably null Het
Arhgap35 A T 7: 16,298,786 (GRCm39) I93N probably damaging Het
Asic2 A T 11: 81,858,657 (GRCm39) D118E probably benign Het
Asprv1 G T 6: 86,605,762 (GRCm39) V203L probably damaging Het
Atad2b G A 12: 5,081,726 (GRCm39) D1212N probably benign Het
Atp4a A G 7: 30,424,105 (GRCm39) I960V probably benign Het
Bin1 G T 18: 32,552,932 (GRCm39) E186* probably null Het
Bmp10 A G 6: 87,410,651 (GRCm39) Y148C probably damaging Het
Ccdc152 T A 15: 3,310,137 (GRCm39) D246V probably damaging Het
Cdc16 A G 8: 13,827,605 (GRCm39) T504A probably benign Het
Cdh9 A T 15: 16,823,261 (GRCm39) D81V probably damaging Het
Cep162 A T 9: 87,086,250 (GRCm39) S1025T probably benign Het
Cidea A G 18: 67,493,283 (GRCm39) I101V probably benign Het
Clock G A 5: 76,384,145 (GRCm39) S478L possibly damaging Het
Cp T A 3: 20,020,494 (GRCm39) N162K probably benign Het
Crb1 C T 1: 139,164,978 (GRCm39) E1110K probably damaging Het
Cyp2b13 A T 7: 25,780,416 (GRCm39) I146L possibly damaging Het
D630045J12Rik A G 6: 38,172,429 (GRCm39) S580P possibly damaging Het
Dars2 T C 1: 160,885,113 (GRCm39) E224G probably damaging Het
Dcbld2 A G 16: 58,244,941 (GRCm39) T72A possibly damaging Het
Ddx11 A T 17: 66,433,193 (GRCm39) I8F possibly damaging Het
Dennd2d T C 3: 106,407,244 (GRCm39) F432L probably damaging Het
Dnah10 T C 5: 124,823,608 (GRCm39) V543A probably benign Het
Eef2k G A 7: 120,488,491 (GRCm39) probably null Het
Elmo1 A G 13: 20,474,610 (GRCm39) M345V probably benign Het
Ephb4 A G 5: 137,359,560 (GRCm39) M377V probably benign Het
Fads1 A G 19: 10,162,361 (GRCm39) E95G probably damaging Het
Farsa G A 8: 85,594,278 (GRCm39) probably null Het
Galntl6 A G 8: 58,230,293 (GRCm39) S42P probably damaging Het
Gga2 G A 7: 121,589,672 (GRCm39) T559M probably benign Het
Glipr1l2 G A 10: 111,928,465 (GRCm39) G120D probably damaging Het
Gm14226 A T 2: 154,866,114 (GRCm39) I24L unknown Het
Gprc5b G T 7: 118,583,492 (GRCm39) R126S probably damaging Het
Gys1 A G 7: 45,092,360 (GRCm39) D321G probably damaging Het
Hdlbp C T 1: 93,358,005 (GRCm39) A299T probably benign Het
Hic2 A G 16: 17,076,979 (GRCm39) T603A probably damaging Het
Hoxa11 A T 6: 52,220,524 (GRCm39) I253N probably damaging Het
Iglon5 A T 7: 43,126,064 (GRCm39) D222E probably benign Het
Inpp5d T A 1: 87,645,500 (GRCm39) S1023T possibly damaging Het
Kif21a C T 15: 90,828,064 (GRCm39) A1233T probably benign Het
Kif9 A T 9: 110,350,421 (GRCm39) T771S possibly damaging Het
Klre1 T A 6: 129,560,150 (GRCm39) C141S probably damaging Het
Lats1 A G 10: 7,577,476 (GRCm39) Y200C probably damaging Het
Lgr4 T A 2: 109,829,801 (GRCm39) L247H probably damaging Het
Lrrc37a T C 11: 103,391,778 (GRCm39) K1216E probably benign Het
Lrrc41 G A 4: 115,950,141 (GRCm39) R518H possibly damaging Het
Lrrk1 A G 7: 65,958,439 (GRCm39) V320A probably benign Het
Mcm9 C T 10: 53,506,088 (GRCm39) R62H probably benign Het
Mmp10 T G 9: 7,503,154 (GRCm39) L38R probably damaging Het
Mroh8 A G 2: 157,071,867 (GRCm39) L546P probably damaging Het
Mtcl2 A T 2: 156,882,776 (GRCm39) D425E probably benign Het
Myt1 T A 2: 181,439,532 (GRCm39) D393E possibly damaging Het
Mzb1 A T 18: 35,780,901 (GRCm39) I129N probably damaging Het
Nek10 A G 14: 14,826,955 (GRCm38) D51G probably benign Het
Nme5 A G 18: 34,700,201 (GRCm39) I148T probably benign Het
Nr2e1 G A 10: 42,439,475 (GRCm39) P348L probably damaging Het
Nrp2 A G 1: 62,758,203 (GRCm39) E63G probably damaging Het
Or2d2 A T 7: 106,727,782 (GRCm39) S273T probably damaging Het
Or51ab3 A T 7: 103,200,956 (GRCm39) probably benign Het
Or52e3 A G 7: 102,869,471 (GRCm39) E182G probably damaging Het
Or52e5 A G 7: 104,718,704 (GRCm39) H10R probably benign Het
Or56a3 A G 7: 104,735,372 (GRCm39) T150A probably benign Het
Pak5 A G 2: 135,942,884 (GRCm39) S419P probably benign Het
Pfas C A 11: 68,881,921 (GRCm39) M25I Het
Prdm9 A G 17: 15,764,867 (GRCm39) S638P possibly damaging Het
Psd G A 19: 46,301,352 (GRCm39) T954I possibly damaging Het
Psph T C 5: 129,864,337 (GRCm39) probably benign Het
Ptprf A G 4: 118,069,593 (GRCm39) I1517T probably benign Het
Rassf8 A G 6: 145,761,129 (GRCm39) R152G probably benign Het
Rfx3 G A 19: 27,827,139 (GRCm39) T149I probably benign Het
Rfx8 A T 1: 39,722,838 (GRCm39) F260I probably damaging Het
Rnft1 C T 11: 86,384,023 (GRCm39) Q308* probably null Het
Rock2 A G 12: 17,008,241 (GRCm39) N528S probably benign Het
Rpp25l T C 4: 41,712,305 (GRCm39) R157G unknown Het
Ryr1 A T 7: 28,735,528 (GRCm39) N4083K probably damaging Het
Scd1 G T 19: 44,388,739 (GRCm39) T237N probably benign Het
Sema3d T C 5: 12,558,112 (GRCm39) F215L probably benign Het
Sema7a C T 9: 57,867,858 (GRCm39) T478I probably benign Het
Sftpc T C 14: 70,759,623 (GRCm39) T99A possibly damaging Het
Slc25a4 G A 8: 46,662,241 (GRCm39) T139I probably damaging Het
Snx27 T C 3: 94,410,272 (GRCm39) E468G possibly damaging Het
Snx33 T C 9: 56,834,058 (GRCm39) K4E possibly damaging Het
Soat1 A T 1: 156,268,148 (GRCm39) L253* probably null Het
Sycp2l A T 13: 41,326,192 (GRCm39) N749I probably damaging Het
Synj2bp A T 12: 81,557,664 (GRCm39) I47N probably damaging Het
Tmem82 T A 4: 141,343,605 (GRCm39) I222F probably damaging Het
Ube2o A T 11: 116,471,905 (GRCm39) L112Q possibly damaging Het
Vmn1r204 G A 13: 22,740,754 (GRCm39) W128* probably null Het
Vmn2r114 A T 17: 23,510,817 (GRCm39) Y554* probably null Het
Vmn2r62 A T 7: 42,437,213 (GRCm39) Y424N possibly damaging Het
Vmn2r70 A T 7: 85,215,312 (GRCm39) L74* probably null Het
Vmp1 T A 11: 86,477,377 (GRCm39) Y341F probably benign Het
Vps13a A T 19: 16,703,027 (GRCm39) V642D probably damaging Het
Vps33a T C 5: 123,674,619 (GRCm39) M383V probably benign Het
Vwf G A 6: 125,624,731 (GRCm39) V1827I Het
Zc3hav1 A G 6: 38,306,121 (GRCm39) Y644H probably benign Het
Zfp429 A C 13: 67,538,410 (GRCm39) C345G probably damaging Het
Zfp595 T C 13: 67,464,823 (GRCm39) H483R probably benign Het
Zfp748 G T 13: 67,690,638 (GRCm39) H207Q probably benign Het
Zfp758 T C 17: 22,593,939 (GRCm39) S142P probably damaging Het
Znfx1 A C 2: 166,898,145 (GRCm39) S260A probably benign Het
Other mutations in Erbb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Erbb4 APN 1 68,110,789 (GRCm39) nonsense probably null
IGL01020:Erbb4 APN 1 68,337,608 (GRCm39) splice site probably benign
IGL01349:Erbb4 APN 1 68,385,752 (GRCm39) missense probably benign 0.00
IGL01386:Erbb4 APN 1 68,383,090 (GRCm39) missense probably damaging 1.00
IGL01516:Erbb4 APN 1 68,367,404 (GRCm39) nonsense probably null
IGL01536:Erbb4 APN 1 68,329,441 (GRCm39) missense probably benign 0.00
IGL01721:Erbb4 APN 1 68,293,722 (GRCm39) missense possibly damaging 0.46
IGL01832:Erbb4 APN 1 68,293,725 (GRCm39) missense possibly damaging 0.84
IGL02002:Erbb4 APN 1 68,119,885 (GRCm39) missense probably damaging 1.00
IGL02040:Erbb4 APN 1 68,081,694 (GRCm39) missense probably damaging 1.00
IGL02371:Erbb4 APN 1 68,329,453 (GRCm39) missense probably benign 0.00
IGL02399:Erbb4 APN 1 68,081,596 (GRCm39) splice site probably benign
IGL02553:Erbb4 APN 1 68,345,023 (GRCm39) missense probably benign 0.17
IGL03118:Erbb4 APN 1 68,081,878 (GRCm39) missense probably benign 0.11
IGL03329:Erbb4 APN 1 68,367,281 (GRCm39) missense probably benign 0.30
IGL03405:Erbb4 APN 1 68,369,397 (GRCm39) missense probably benign 0.02
earthworm UTSW 1 68,289,739 (GRCm39) missense possibly damaging 0.67
excrescence UTSW 1 68,369,405 (GRCm39) missense probably damaging 1.00
Mole UTSW 1 68,599,735 (GRCm39) missense probably damaging 1.00
P0018:Erbb4 UTSW 1 68,110,835 (GRCm39) missense probably benign 0.05
PIT4480001:Erbb4 UTSW 1 68,114,702 (GRCm39) missense probably damaging 1.00
R0193:Erbb4 UTSW 1 68,083,119 (GRCm39) intron probably benign
R0329:Erbb4 UTSW 1 68,337,439 (GRCm39) splice site probably benign
R0335:Erbb4 UTSW 1 68,298,418 (GRCm39) missense probably benign
R0362:Erbb4 UTSW 1 68,369,429 (GRCm39) missense probably damaging 0.99
R0579:Erbb4 UTSW 1 68,081,621 (GRCm39) missense probably benign 0.17
R0730:Erbb4 UTSW 1 68,298,449 (GRCm39) missense probably damaging 0.98
R1029:Erbb4 UTSW 1 68,348,773 (GRCm39) missense probably damaging 0.96
R1444:Erbb4 UTSW 1 68,293,759 (GRCm39) missense probably damaging 1.00
R1469:Erbb4 UTSW 1 68,599,841 (GRCm39) missense probably damaging 0.99
R1469:Erbb4 UTSW 1 68,599,841 (GRCm39) missense probably damaging 0.99
R1503:Erbb4 UTSW 1 68,385,705 (GRCm39) missense probably benign 0.00
R1523:Erbb4 UTSW 1 68,435,411 (GRCm39) missense possibly damaging 0.95
R1528:Erbb4 UTSW 1 68,117,741 (GRCm39) nonsense probably null
R1604:Erbb4 UTSW 1 68,385,728 (GRCm39) missense possibly damaging 0.88
R1611:Erbb4 UTSW 1 68,079,547 (GRCm39) missense probably damaging 1.00
R1642:Erbb4 UTSW 1 68,370,393 (GRCm39) missense probably damaging 1.00
R1905:Erbb4 UTSW 1 68,114,569 (GRCm39) splice site probably benign
R1929:Erbb4 UTSW 1 68,238,047 (GRCm39) missense probably damaging 0.98
R2046:Erbb4 UTSW 1 68,337,482 (GRCm39) missense probably benign 0.02
R2139:Erbb4 UTSW 1 68,385,788 (GRCm39) missense probably damaging 0.96
R2271:Erbb4 UTSW 1 68,238,047 (GRCm39) missense probably damaging 0.98
R2298:Erbb4 UTSW 1 68,081,690 (GRCm39) missense probably damaging 1.00
R2356:Erbb4 UTSW 1 68,117,755 (GRCm39) missense probably benign 0.00
R3821:Erbb4 UTSW 1 68,345,072 (GRCm39) missense probably damaging 0.97
R4007:Erbb4 UTSW 1 68,779,560 (GRCm39) missense probably damaging 1.00
R4012:Erbb4 UTSW 1 68,599,735 (GRCm39) missense probably damaging 1.00
R4077:Erbb4 UTSW 1 68,079,496 (GRCm39) missense probably benign 0.07
R4196:Erbb4 UTSW 1 68,383,014 (GRCm39) missense possibly damaging 0.90
R4536:Erbb4 UTSW 1 68,385,781 (GRCm39) missense probably damaging 1.00
R4561:Erbb4 UTSW 1 68,383,080 (GRCm39) nonsense probably null
R4642:Erbb4 UTSW 1 68,289,791 (GRCm39) missense probably damaging 1.00
R4737:Erbb4 UTSW 1 68,383,059 (GRCm39) missense probably damaging 0.98
R4739:Erbb4 UTSW 1 68,383,059 (GRCm39) missense probably damaging 0.98
R4780:Erbb4 UTSW 1 68,337,473 (GRCm39) missense probably damaging 1.00
R4801:Erbb4 UTSW 1 68,369,405 (GRCm39) missense probably damaging 1.00
R4802:Erbb4 UTSW 1 68,369,405 (GRCm39) missense probably damaging 1.00
R4811:Erbb4 UTSW 1 68,293,703 (GRCm39) missense probably damaging 1.00
R4832:Erbb4 UTSW 1 68,369,397 (GRCm39) missense probably benign 0.02
R5068:Erbb4 UTSW 1 68,083,061 (GRCm39) splice site probably null
R5546:Erbb4 UTSW 1 68,337,452 (GRCm39) missense probably damaging 0.99
R5755:Erbb4 UTSW 1 68,599,678 (GRCm39) missense possibly damaging 0.96
R6189:Erbb4 UTSW 1 68,083,075 (GRCm39) missense probably benign
R6257:Erbb4 UTSW 1 68,435,432 (GRCm39) missense probably damaging 1.00
R6276:Erbb4 UTSW 1 68,599,735 (GRCm39) missense probably damaging 1.00
R6521:Erbb4 UTSW 1 68,081,689 (GRCm39) missense probably damaging 1.00
R6602:Erbb4 UTSW 1 68,409,662 (GRCm39) missense probably damaging 0.99
R6808:Erbb4 UTSW 1 68,079,462 (GRCm39) missense probably benign 0.00
R7087:Erbb4 UTSW 1 68,779,650 (GRCm39) missense probably null 1.00
R7215:Erbb4 UTSW 1 68,378,619 (GRCm39) missense probably benign
R7356:Erbb4 UTSW 1 68,378,514 (GRCm39) critical splice donor site probably null
R7509:Erbb4 UTSW 1 68,289,739 (GRCm39) missense possibly damaging 0.67
R7743:Erbb4 UTSW 1 68,367,278 (GRCm39) missense probably benign 0.00
R7784:Erbb4 UTSW 1 68,114,658 (GRCm39) missense probably damaging 1.00
R7815:Erbb4 UTSW 1 68,081,885 (GRCm39) missense probably damaging 1.00
R7923:Erbb4 UTSW 1 68,298,368 (GRCm39) missense probably damaging 1.00
R8071:Erbb4 UTSW 1 68,435,470 (GRCm39) missense probably damaging 1.00
R8288:Erbb4 UTSW 1 68,337,509 (GRCm39) missense probably damaging 1.00
R8356:Erbb4 UTSW 1 68,110,789 (GRCm39) missense probably damaging 1.00
R8456:Erbb4 UTSW 1 68,110,789 (GRCm39) missense probably damaging 1.00
R8464:Erbb4 UTSW 1 68,348,785 (GRCm39) missense probably benign
R8783:Erbb4 UTSW 1 68,079,331 (GRCm39) missense possibly damaging 0.95
R8830:Erbb4 UTSW 1 68,114,627 (GRCm39) missense probably damaging 1.00
R8881:Erbb4 UTSW 1 68,382,997 (GRCm39) critical splice donor site probably null
R9053:Erbb4 UTSW 1 68,289,779 (GRCm39) missense possibly damaging 0.63
R9142:Erbb4 UTSW 1 68,388,552 (GRCm39) missense probably damaging 1.00
R9237:Erbb4 UTSW 1 68,081,601 (GRCm39) missense possibly damaging 0.72
R9350:Erbb4 UTSW 1 68,329,638 (GRCm39) missense probably benign 0.00
R9374:Erbb4 UTSW 1 68,779,642 (GRCm39) nonsense probably null
R9434:Erbb4 UTSW 1 68,081,773 (GRCm39) missense possibly damaging 0.84
R9499:Erbb4 UTSW 1 68,779,642 (GRCm39) nonsense probably null
R9551:Erbb4 UTSW 1 68,779,642 (GRCm39) nonsense probably null
R9753:Erbb4 UTSW 1 68,238,062 (GRCm39) missense probably benign 0.00
X0019:Erbb4 UTSW 1 68,112,304 (GRCm39) missense probably benign 0.00
Z1176:Erbb4 UTSW 1 68,367,418 (GRCm39) nonsense probably null
Z1176:Erbb4 UTSW 1 68,337,561 (GRCm39) frame shift probably null
Z1177:Erbb4 UTSW 1 68,348,802 (GRCm39) missense probably benign 0.06
Z1177:Erbb4 UTSW 1 68,329,635 (GRCm39) missense probably damaging 1.00
Z1177:Erbb4 UTSW 1 68,298,342 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CAACTTCTCAGCACTACTAAGGATTG -3'
(R):5'- TGGGGCTGTGGCAAATATTC -3'

Sequencing Primer
(F):5'- TTATGGAGCAGAGAACTACCTCGTC -3'
(R):5'- GCTGTGGCAAATATTCAGTGG -3'
Posted On 2019-10-24