Incidental Mutation 'R4811:Erbb4'
ID 369400
Institutional Source Beutler Lab
Gene Symbol Erbb4
Ensembl Gene ENSMUSG00000062209
Gene Name erb-b2 receptor tyrosine kinase 4
Synonyms Her4, ErbB4
MMRRC Submission 042430-MU
Accession Numbers

Ncbi RefSeq: NM_010154.1; MGI:104771

Essential gene? Essential (E-score: 1.000) question?
Stock # R4811 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 68032186-69108059 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68254544 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 729 (F729L)
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: F729L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112713
Gene: ENSMUSG00000062209
AA Change: F729L

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: F729L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114123
Gene: ENSMUSG00000062209
AA Change: F729L

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: F719L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115373
Gene: ENSMUSG00000062209
AA Change: F719L

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype Strain: 1929607
Lethality: E10-E11
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik G A 15: 37,425,708 (GRCm38) probably benign Het
Adam3 C T 8: 24,711,724 (GRCm38) G208R probably benign Het
AI481877 T C 4: 59,082,404 (GRCm38) N408S probably benign Het
Arsg G T 11: 109,534,072 (GRCm38) V290L probably benign Het
Cad A G 5: 31,074,690 (GRCm38) T104A probably benign Het
Ccdc180 A G 4: 45,928,020 (GRCm38) N1185S probably damaging Het
Cdh18 A G 15: 23,226,791 (GRCm38) T113A probably benign Het
Crocc2 G A 1: 93,205,896 (GRCm38) A967T probably damaging Het
Cyp4f16 A G 17: 32,545,106 (GRCm38) T291A probably benign Het
Dcc T A 18: 71,299,483 (GRCm38) H1300L probably benign Het
Ddx23 T A 15: 98,647,471 (GRCm38) probably null Het
Dnhd1 T G 7: 105,714,281 (GRCm38) S4017A probably damaging Het
Ercc6 G T 14: 32,574,929 (GRCm38) R1292L probably benign Het
Fam186b C T 15: 99,280,237 (GRCm38) V403M probably benign Het
Fam227a T C 15: 79,615,427 (GRCm38) N576D possibly damaging Het
Fam46b T C 4: 133,486,370 (GRCm38) L184P probably benign Het
Fbln1 A G 15: 85,226,966 (GRCm38) probably null Het
Fbxw17 T C 13: 50,425,633 (GRCm38) V162A probably benign Het
Gas2l1 A C 11: 5,064,436 (GRCm38) I8S probably damaging Het
Gm7030 A G 17: 36,127,776 (GRCm38) L241S probably damaging Het
Golgb1 T C 16: 36,891,419 (GRCm38) L195P probably damaging Het
Gps2 A T 11: 69,915,928 (GRCm38) H233L probably damaging Het
Guf1 T G 5: 69,564,509 (GRCm38) probably null Het
Il1rap T A 16: 26,701,238 (GRCm38) probably null Het
Ints14 A G 9: 64,964,518 (GRCm38) Y46C probably damaging Het
Kalrn T G 16: 34,356,969 (GRCm38) Q293H probably damaging Het
Kank2 A G 9: 21,775,747 (GRCm38) L593P probably damaging Het
Krt19 T C 11: 100,141,348 (GRCm38) T297A possibly damaging Het
Lcp1 T C 14: 75,200,408 (GRCm38) V86A probably damaging Het
Lins1 T A 7: 66,708,150 (GRCm38) I11K probably benign Het
Lrba T C 3: 86,776,141 (GRCm38) F2757L probably damaging Het
Lyst T C 13: 13,777,100 (GRCm38) I3762T probably benign Het
Lyzl6 A G 11: 103,635,025 (GRCm38) S90P possibly damaging Het
Mfsd2a T A 4: 122,959,382 (GRCm38) Q38L probably benign Het
Mtss1 A G 15: 58,944,073 (GRCm38) F546S probably damaging Het
Myo5a G A 9: 75,141,543 (GRCm38) probably null Het
Naip6 C A 13: 100,285,791 (GRCm38) G1245W probably damaging Het
Ndfip1 C T 18: 38,451,592 (GRCm38) T107I probably benign Het
Nek8 C T 11: 78,167,718 (GRCm38) probably null Het
Nphs1 T C 7: 30,460,429 (GRCm38) V55A probably damaging Het
Nrp2 C A 1: 62,719,081 (GRCm38) H75Q probably damaging Het
Oas1e C T 5: 120,795,383 (GRCm38) S39N probably damaging Het
Olfr1164 A G 2: 88,093,532 (GRCm38) F135L probably benign Het
Olfr1391 T G 11: 49,327,748 (GRCm38) S112R possibly damaging Het
Olfr309 T C 7: 86,306,958 (GRCm38) T52A probably benign Het
Olfr871 A T 9: 20,212,753 (GRCm38) I135F probably damaging Het
Pan3 T A 5: 147,530,058 (GRCm38) H632Q probably damaging Het
Paqr3 A C 5: 97,095,983 (GRCm38) S291A probably benign Het
Pcdh17 A C 14: 84,447,935 (GRCm38) D614A probably damaging Het
Pcyox1l T C 18: 61,697,535 (GRCm38) E422G possibly damaging Het
Pgr G T 9: 8,900,843 (GRCm38) E126* probably null Het
Pik3ap1 A G 19: 41,302,497 (GRCm38) V532A possibly damaging Het
Pla2g4c T C 7: 13,337,813 (GRCm38) I186T probably damaging Het
Pnkd G A 1: 74,349,405 (GRCm38) probably null Het
Poc1a A G 9: 106,349,709 (GRCm38) T334A probably damaging Het
Pou2f2 T A 7: 25,097,686 (GRCm38) K211* probably null Het
Rdh13 T C 7: 4,442,653 (GRCm38) E94G probably benign Het
Rnf186 A G 4: 138,967,187 (GRCm38) S13G probably benign Het
Ryr2 T C 13: 11,655,698 (GRCm38) R3471G probably damaging Het
Sbf2 T C 7: 110,372,535 (GRCm38) T831A probably damaging Het
Sh3gl2 A G 4: 85,398,166 (GRCm38) probably benign Het
Snn T C 16: 11,072,533 (GRCm38) V72A probably benign Het
Sys1 T A 2: 164,464,424 (GRCm38) H99Q possibly damaging Het
Syt7 A G 19: 10,435,567 (GRCm38) K122R probably damaging Het
Tas1r2 T A 4: 139,669,000 (GRCm38) L550Q probably damaging Het
Thoc1 T C 18: 9,993,438 (GRCm38) I599T probably damaging Het
Tle3 C T 9: 61,373,997 (GRCm38) probably benign Het
Tll1 A C 8: 64,085,473 (GRCm38) V379G possibly damaging Het
Tnfrsf21 G A 17: 43,037,730 (GRCm38) E78K probably benign Het
Tpgs2 A G 18: 25,129,840 (GRCm38) probably benign Het
Trpm1 T C 7: 64,208,306 (GRCm38) L165P probably damaging Het
Trpm5 T C 7: 143,080,219 (GRCm38) Y750C probably damaging Het
Ttbk2 A C 2: 120,740,070 (GRCm38) S1201A possibly damaging Het
Ust T A 10: 8,245,941 (GRCm38) H301L probably damaging Het
Vwa5a T C 9: 38,735,953 (GRCm38) F543L probably benign Het
Yeats2 T A 16: 20,152,895 (GRCm38) probably null Het
Zfp85 T C 13: 67,749,626 (GRCm38) Y109C probably damaging Het
Zfr2 T A 10: 81,243,713 (GRCm38) V362E probably benign Het
Znrf3 A T 11: 5,287,420 (GRCm38) C134S probably benign Het
Other mutations in Erbb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Erbb4 APN 1 68,071,630 (GRCm38) nonsense probably null
IGL01020:Erbb4 APN 1 68,298,449 (GRCm38) splice site probably benign
IGL01349:Erbb4 APN 1 68,346,593 (GRCm38) missense probably benign 0.00
IGL01386:Erbb4 APN 1 68,343,931 (GRCm38) missense probably damaging 1.00
IGL01516:Erbb4 APN 1 68,328,245 (GRCm38) nonsense probably null
IGL01536:Erbb4 APN 1 68,290,282 (GRCm38) missense probably benign 0.00
IGL01721:Erbb4 APN 1 68,254,563 (GRCm38) missense possibly damaging 0.46
IGL01832:Erbb4 APN 1 68,254,566 (GRCm38) missense possibly damaging 0.84
IGL02002:Erbb4 APN 1 68,080,726 (GRCm38) missense probably damaging 1.00
IGL02040:Erbb4 APN 1 68,042,535 (GRCm38) missense probably damaging 1.00
IGL02371:Erbb4 APN 1 68,290,294 (GRCm38) missense probably benign 0.00
IGL02399:Erbb4 APN 1 68,042,437 (GRCm38) splice site probably benign
IGL02553:Erbb4 APN 1 68,305,864 (GRCm38) missense probably benign 0.17
IGL03118:Erbb4 APN 1 68,042,719 (GRCm38) missense probably benign 0.11
IGL03329:Erbb4 APN 1 68,328,122 (GRCm38) missense probably benign 0.30
IGL03405:Erbb4 APN 1 68,330,238 (GRCm38) missense probably benign 0.02
earthworm UTSW 1 68,250,580 (GRCm38) missense possibly damaging 0.67
excrescence UTSW 1 68,330,246 (GRCm38) missense probably damaging 1.00
Mole UTSW 1 68,560,576 (GRCm38) missense probably damaging 1.00
P0018:Erbb4 UTSW 1 68,071,676 (GRCm38) missense probably benign 0.05
PIT4480001:Erbb4 UTSW 1 68,075,543 (GRCm38) missense probably damaging 1.00
R0193:Erbb4 UTSW 1 68,043,960 (GRCm38) intron probably benign
R0329:Erbb4 UTSW 1 68,298,280 (GRCm38) splice site probably benign
R0335:Erbb4 UTSW 1 68,259,259 (GRCm38) missense probably benign
R0362:Erbb4 UTSW 1 68,330,270 (GRCm38) missense probably damaging 0.99
R0579:Erbb4 UTSW 1 68,042,462 (GRCm38) missense probably benign 0.17
R0730:Erbb4 UTSW 1 68,259,290 (GRCm38) missense probably damaging 0.98
R1029:Erbb4 UTSW 1 68,309,614 (GRCm38) missense probably damaging 0.96
R1444:Erbb4 UTSW 1 68,254,600 (GRCm38) missense probably damaging 1.00
R1469:Erbb4 UTSW 1 68,560,682 (GRCm38) missense probably damaging 0.99
R1469:Erbb4 UTSW 1 68,560,682 (GRCm38) missense probably damaging 0.99
R1503:Erbb4 UTSW 1 68,346,546 (GRCm38) missense probably benign 0.00
R1523:Erbb4 UTSW 1 68,396,252 (GRCm38) missense possibly damaging 0.95
R1528:Erbb4 UTSW 1 68,078,582 (GRCm38) nonsense probably null
R1604:Erbb4 UTSW 1 68,346,569 (GRCm38) missense possibly damaging 0.88
R1611:Erbb4 UTSW 1 68,040,388 (GRCm38) missense probably damaging 1.00
R1642:Erbb4 UTSW 1 68,331,234 (GRCm38) missense probably damaging 1.00
R1905:Erbb4 UTSW 1 68,075,410 (GRCm38) splice site probably benign
R1929:Erbb4 UTSW 1 68,198,888 (GRCm38) missense probably damaging 0.98
R2046:Erbb4 UTSW 1 68,298,323 (GRCm38) missense probably benign 0.02
R2139:Erbb4 UTSW 1 68,346,629 (GRCm38) missense probably damaging 0.96
R2271:Erbb4 UTSW 1 68,198,888 (GRCm38) missense probably damaging 0.98
R2298:Erbb4 UTSW 1 68,042,531 (GRCm38) missense probably damaging 1.00
R2356:Erbb4 UTSW 1 68,078,596 (GRCm38) missense probably benign 0.00
R3821:Erbb4 UTSW 1 68,305,913 (GRCm38) missense probably damaging 0.97
R4007:Erbb4 UTSW 1 68,740,401 (GRCm38) missense probably damaging 1.00
R4012:Erbb4 UTSW 1 68,560,576 (GRCm38) missense probably damaging 1.00
R4077:Erbb4 UTSW 1 68,040,337 (GRCm38) missense probably benign 0.07
R4196:Erbb4 UTSW 1 68,343,855 (GRCm38) missense possibly damaging 0.90
R4536:Erbb4 UTSW 1 68,346,622 (GRCm38) missense probably damaging 1.00
R4561:Erbb4 UTSW 1 68,343,921 (GRCm38) nonsense probably null
R4642:Erbb4 UTSW 1 68,250,632 (GRCm38) missense probably damaging 1.00
R4737:Erbb4 UTSW 1 68,343,900 (GRCm38) missense probably damaging 0.98
R4739:Erbb4 UTSW 1 68,343,900 (GRCm38) missense probably damaging 0.98
R4780:Erbb4 UTSW 1 68,298,314 (GRCm38) missense probably damaging 1.00
R4801:Erbb4 UTSW 1 68,330,246 (GRCm38) missense probably damaging 1.00
R4802:Erbb4 UTSW 1 68,330,246 (GRCm38) missense probably damaging 1.00
R4832:Erbb4 UTSW 1 68,330,238 (GRCm38) missense probably benign 0.02
R5068:Erbb4 UTSW 1 68,043,902 (GRCm38) splice site probably null
R5546:Erbb4 UTSW 1 68,298,293 (GRCm38) missense probably damaging 0.99
R5755:Erbb4 UTSW 1 68,560,519 (GRCm38) missense possibly damaging 0.96
R6189:Erbb4 UTSW 1 68,043,916 (GRCm38) missense probably benign
R6257:Erbb4 UTSW 1 68,396,273 (GRCm38) missense probably damaging 1.00
R6276:Erbb4 UTSW 1 68,560,576 (GRCm38) missense probably damaging 1.00
R6521:Erbb4 UTSW 1 68,042,530 (GRCm38) missense probably damaging 1.00
R6602:Erbb4 UTSW 1 68,370,503 (GRCm38) missense probably damaging 0.99
R6808:Erbb4 UTSW 1 68,040,303 (GRCm38) missense probably benign 0.00
R7087:Erbb4 UTSW 1 68,740,491 (GRCm38) missense probably null 1.00
R7215:Erbb4 UTSW 1 68,339,460 (GRCm38) missense probably benign
R7356:Erbb4 UTSW 1 68,339,355 (GRCm38) critical splice donor site probably null
R7509:Erbb4 UTSW 1 68,250,580 (GRCm38) missense possibly damaging 0.67
R7593:Erbb4 UTSW 1 68,254,599 (GRCm38) missense probably damaging 0.99
R7743:Erbb4 UTSW 1 68,328,119 (GRCm38) missense probably benign 0.00
R7784:Erbb4 UTSW 1 68,075,499 (GRCm38) missense probably damaging 1.00
R7815:Erbb4 UTSW 1 68,042,726 (GRCm38) missense probably damaging 1.00
R7923:Erbb4 UTSW 1 68,259,209 (GRCm38) missense probably damaging 1.00
R8071:Erbb4 UTSW 1 68,396,311 (GRCm38) missense probably damaging 1.00
R8288:Erbb4 UTSW 1 68,298,350 (GRCm38) missense probably damaging 1.00
R8356:Erbb4 UTSW 1 68,071,630 (GRCm38) missense probably damaging 1.00
R8456:Erbb4 UTSW 1 68,071,630 (GRCm38) missense probably damaging 1.00
R8464:Erbb4 UTSW 1 68,309,626 (GRCm38) missense probably benign
R8783:Erbb4 UTSW 1 68,040,172 (GRCm38) missense possibly damaging 0.95
R8830:Erbb4 UTSW 1 68,075,468 (GRCm38) missense probably damaging 1.00
R8881:Erbb4 UTSW 1 68,343,838 (GRCm38) critical splice donor site probably null
R9053:Erbb4 UTSW 1 68,250,620 (GRCm38) missense possibly damaging 0.63
R9142:Erbb4 UTSW 1 68,349,393 (GRCm38) missense probably damaging 1.00
R9237:Erbb4 UTSW 1 68,042,442 (GRCm38) missense possibly damaging 0.72
R9350:Erbb4 UTSW 1 68,290,479 (GRCm38) missense probably benign 0.00
R9374:Erbb4 UTSW 1 68,740,483 (GRCm38) nonsense probably null
R9434:Erbb4 UTSW 1 68,042,614 (GRCm38) missense possibly damaging 0.84
R9499:Erbb4 UTSW 1 68,740,483 (GRCm38) nonsense probably null
R9551:Erbb4 UTSW 1 68,740,483 (GRCm38) nonsense probably null
R9753:Erbb4 UTSW 1 68,198,903 (GRCm38) missense probably benign 0.00
X0019:Erbb4 UTSW 1 68,073,145 (GRCm38) missense probably benign 0.00
Z1176:Erbb4 UTSW 1 68,328,259 (GRCm38) nonsense probably null
Z1176:Erbb4 UTSW 1 68,298,402 (GRCm38) frame shift probably null
Z1177:Erbb4 UTSW 1 68,309,643 (GRCm38) missense probably benign 0.06
Z1177:Erbb4 UTSW 1 68,290,476 (GRCm38) missense probably damaging 1.00
Z1177:Erbb4 UTSW 1 68,259,183 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGCAACTTCTCAGCACTACTAAGG -3'
(R):5'- ATGTATGCTGGCGTACTCTTC -3'

Sequencing Primer
(F):5'- TTATGGAGCAGAGAACTACCTCGTC -3'
(R):5'- GTATGCTGGCGTACTCTTCTAAAAGC -3'
Posted On 2016-02-04