Incidental Mutation 'R6189:Erbb4'
ID 502351
Institutional Source Beutler Lab
Gene Symbol Erbb4
Ensembl Gene ENSMUSG00000062209
Gene Name erb-b2 receptor tyrosine kinase 4
Synonyms Her4, ErbB4
MMRRC Submission 044329-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6189 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 68071345-69147218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68083075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1059 (M1059L)
Ref Sequence ENSEMBL: ENSMUSP00000112713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119142] [ENSMUST00000121473]
AlphaFold Q61527
Predicted Effect probably benign
Transcript: ENSMUST00000119142
AA Change: M1059L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: M1059L

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 benign
Transcript: ENSMUST00000121473
SMART Domains Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (74/76)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,474,222 (GRCm39) probably benign Het
Abca8a T C 11: 109,921,710 (GRCm39) D1448G probably damaging Het
Actn2 C T 13: 12,291,326 (GRCm39) D693N probably damaging Het
Adam3 A C 8: 25,201,352 (GRCm39) I267R probably benign Het
Aldh1l2 A G 10: 83,343,877 (GRCm39) probably null Het
C4bp T C 1: 130,564,556 (GRCm39) Y376C probably damaging Het
Cacna1h A G 17: 25,616,818 (GRCm39) W101R probably damaging Het
Ccdc97 T A 7: 25,415,523 (GRCm39) T47S probably benign Het
Cenatac G A 9: 44,321,618 (GRCm39) R328C probably benign Het
Cnot6l G A 5: 96,246,136 (GRCm39) T171I probably benign Het
Cntnap2 T A 6: 47,248,232 (GRCm39) S1213T probably damaging Het
Cxcl10 A T 5: 92,495,972 (GRCm39) L55Q probably benign Het
Cyp1a1 T C 9: 57,607,966 (GRCm39) V198A probably damaging Het
Dclre1b A G 3: 103,710,849 (GRCm39) V354A probably damaging Het
Dmxl1 C T 18: 50,026,402 (GRCm39) H1837Y probably benign Het
Dnajc13 G C 9: 104,091,085 (GRCm39) D665E probably benign Het
Dnmbp T C 19: 43,878,748 (GRCm39) T108A probably benign Het
Dnmbp T A 19: 43,889,950 (GRCm39) T606S probably benign Het
Dok5 T A 2: 170,642,771 (GRCm39) I23N probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epha5 A T 5: 84,385,399 (GRCm39) F311I probably damaging Het
Fbxo40 A G 16: 36,786,526 (GRCm39) I681T probably benign Het
Flg2 T A 3: 93,127,381 (GRCm39) C2098S unknown Het
Gpr87 T A 3: 59,086,650 (GRCm39) D285V probably damaging Het
Hrh1 T A 6: 114,456,959 (GRCm39) V80D probably damaging Het
Hunk G A 16: 90,284,769 (GRCm39) R351K probably benign Het
Ifna12 A G 4: 88,521,248 (GRCm39) W100R probably damaging Het
Ift57 G A 16: 49,584,176 (GRCm39) G310S probably damaging Het
Igf1r T A 7: 67,857,084 (GRCm39) Y1015* probably null Het
Igkv14-130 T C 6: 67,768,432 (GRCm39) I96T probably damaging Het
Il34 C T 8: 111,469,350 (GRCm39) S155N probably benign Het
Itga7 T C 10: 128,786,272 (GRCm39) S938P possibly damaging Het
Itgam A G 7: 127,711,676 (GRCm39) M764V probably benign Het
Lao1 T A 4: 118,825,077 (GRCm39) M299K probably benign Het
Lnpep A T 17: 17,787,001 (GRCm39) S533T possibly damaging Het
Lrp4 T C 2: 91,305,579 (GRCm39) V283A possibly damaging Het
Magi3 G T 3: 103,958,181 (GRCm39) H635N probably damaging Het
Mecr A T 4: 131,592,565 (GRCm39) probably null Het
Mgrn1 T C 16: 4,728,674 (GRCm39) probably null Het
Mical2 A C 7: 112,012,087 (GRCm39) N646H probably damaging Het
Mymk C T 2: 26,957,377 (GRCm39) V39I possibly damaging Het
Nav3 T C 10: 109,555,880 (GRCm39) S1684G probably damaging Het
Ntn5 A T 7: 45,342,644 (GRCm39) D330V probably benign Het
Nup42 G T 5: 24,380,452 (GRCm39) G149V probably damaging Het
Nutm2 T A 13: 50,623,774 (GRCm39) V157D possibly damaging Het
Obscn T C 11: 58,960,760 (GRCm39) I3460V probably benign Het
Or8u10 A T 2: 85,915,257 (GRCm39) M288K possibly damaging Het
Pakap A G 4: 57,855,928 (GRCm39) E419G probably benign Het
Pcdh15 C T 10: 74,178,483 (GRCm39) A580V probably null Het
Pcdhb10 T A 18: 37,545,456 (GRCm39) H177Q probably damaging Het
Pitx2 T C 3: 129,012,118 (GRCm39) Y130H probably damaging Het
Pmch G T 10: 87,927,248 (GRCm39) probably null Het
Pofut2 T A 10: 77,104,420 (GRCm39) I399N probably damaging Het
Prr36 C A 8: 4,264,177 (GRCm39) probably benign Het
Ptprq C A 10: 107,353,748 (GRCm39) C2256F probably damaging Het
Rassf5 G A 1: 131,172,716 (GRCm39) A51V probably damaging Het
Retnla A G 16: 48,663,258 (GRCm39) I54V probably benign Het
Rimbp2 A G 5: 128,880,961 (GRCm39) L142P probably benign Het
Ripk1 A G 13: 34,216,484 (GRCm39) T564A probably benign Het
Robo4 G A 9: 37,314,829 (GRCm39) E228K probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Rusc1 A T 3: 88,996,319 (GRCm39) L132Q probably damaging Het
Serpinb9h A T 13: 33,588,427 (GRCm39) E337D probably benign Het
Setd1a T C 7: 127,377,455 (GRCm39) probably null Het
Slc38a6 A T 12: 73,356,970 (GRCm39) K122M probably damaging Het
Speer4a2 A G 5: 26,290,691 (GRCm39) I160T probably benign Het
Susd5 A T 9: 113,924,726 (GRCm39) D203V probably damaging Het
Trip4 G A 9: 65,786,434 (GRCm39) R110* probably null Het
Tuba4a T A 1: 75,193,518 (GRCm39) I95F probably benign Het
Ube2q2 T A 9: 55,070,267 (GRCm39) S70T probably benign Het
Umodl1 A G 17: 31,215,256 (GRCm39) I1027V possibly damaging Het
Unc80 G A 1: 66,716,630 (GRCm39) V2917I probably benign Het
Vmn1r70 T A 7: 10,367,598 (GRCm39) C29S probably benign Het
Vmn2r94 A T 17: 18,477,996 (GRCm39) D138E probably benign Het
Wee2 C T 6: 40,426,617 (GRCm39) H129Y probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp872 A T 9: 22,108,427 (GRCm39) D42V probably benign Het
Zic5 T G 14: 122,702,386 (GRCm39) D115A unknown 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
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
R7593:Erbb4 UTSW 1 68,293,758 (GRCm39) missense probably damaging 0.99
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'- TCAGTTATCACCCAAGTTACAGAC -3'
(R):5'- TGCTTGTAGTGAGAATGAACACAG -3'

Sequencing Primer
(F):5'- GACATCTAAGACATCTACACAGGCAG -3'
(R):5'- TGTAGTGAGAATGAACACAGTTTGAC -3'
Posted On 2018-02-27