Incidental Mutation 'R6004:Nrg4'
ID 478519
Institutional Source Beutler Lab
Gene Symbol Nrg4
Ensembl Gene ENSMUSG00000032311
Gene Name neuregulin 4
Synonyms
MMRRC Submission 044182-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6004 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 55127506-55190937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55166667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 68 (T68A)
Ref Sequence ENSEMBL: ENSMUSP00000115851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000130158] [ENSMUST00000135531] [ENSMUST00000137675] [ENSMUST00000145784] [ENSMUST00000164721]
AlphaFold Q9WTX4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114306
SMART Domains Protein: ENSMUSP00000109945
Gene: ENSMUSG00000032311

DomainStartEndE-ValueType
EGF 8 46 4.78e-3 SMART
transmembrane domain 61 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128020
Predicted Effect probably benign
Transcript: ENSMUST00000130158
SMART Domains Protein: ENSMUSP00000115247
Gene: ENSMUSG00000032311

DomainStartEndE-ValueType
EGF 8 46 4.78e-3 SMART
transmembrane domain 61 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134183
Predicted Effect probably benign
Transcript: ENSMUST00000135531
Predicted Effect probably benign
Transcript: ENSMUST00000137675
Predicted Effect possibly damaging
Transcript: ENSMUST00000145784
AA Change: T68A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115851
Gene: ENSMUSG00000032311
AA Change: T68A

DomainStartEndE-ValueType
Blast:EGF 8 35 9e-13 BLAST
SCOP:d1jl9a_ 9 35 6e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139261
Predicted Effect probably benign
Transcript: ENSMUST00000164721
SMART Domains Protein: ENSMUSP00000130929
Gene: ENSMUSG00000032311

DomainStartEndE-ValueType
EGF 8 46 4.78e-3 SMART
transmembrane domain 61 83 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.1%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342]).[supplied by OMIM, Mar 2008]
PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 C T 3: 97,082,997 (GRCm39) A336V probably benign Het
Adam5 T A 8: 25,271,685 (GRCm39) Y574F probably benign Het
Arl6 A T 16: 59,444,257 (GRCm39) W80R probably damaging Het
Bmal1 A T 7: 112,879,934 (GRCm39) D22V probably damaging Het
Cars2 A G 8: 11,597,743 (GRCm39) I111T probably damaging Het
Chrd T C 16: 20,553,987 (GRCm39) L317S possibly damaging Het
Cyp4a12b A G 4: 115,290,664 (GRCm39) D262G probably benign Het
Dcaf6 A G 1: 165,216,254 (GRCm39) S450P probably benign Het
Dnah3 T C 7: 119,685,520 (GRCm39) D164G probably benign Het
Gpx6 A C 13: 21,503,239 (GRCm39) T218P probably benign Het
Htr1f T C 16: 64,746,239 (GRCm39) N351S probably damaging Het
Idua A G 5: 108,828,510 (GRCm39) E241G probably benign Het
Ighv14-2 T A 12: 113,958,255 (GRCm39) Q62L probably damaging Het
Ighv1-65 C T 12: 115,496,056 (GRCm39) noncoding transcript Het
Inpp4a T C 1: 37,411,451 (GRCm39) S372P probably damaging Het
Itgax A T 7: 127,730,624 (GRCm39) H114L probably damaging Het
Lama2 A T 10: 27,111,781 (GRCm39) F746L probably benign Het
Lrrc37a C T 11: 103,393,362 (GRCm39) V688M possibly damaging Het
Ltbp2 A G 12: 84,922,923 (GRCm39) V28A probably benign Het
Mill2 A T 7: 18,590,463 (GRCm39) D166V probably benign Het
Mroh2a G A 1: 88,176,377 (GRCm39) C982Y probably damaging Het
Msh3 T A 13: 92,478,922 (GRCm39) probably null Het
Myh15 A T 16: 48,980,062 (GRCm39) M1395L probably benign Het
Npepps T C 11: 97,113,950 (GRCm39) E642G probably benign Het
Or10ag60 T A 2: 87,438,253 (GRCm39) F174I probably damaging Het
Or4b1d T C 2: 89,969,343 (GRCm39) N47D probably benign Het
Or4f60 G T 2: 111,902,371 (GRCm39) L186I probably damaging Het
Or6c66b T A 10: 129,376,759 (GRCm39) Y118N probably benign Het
Or8b41 A G 9: 38,055,256 (GRCm39) K270R probably damaging Het
Or9g20 A T 2: 85,629,726 (GRCm39) V296E probably damaging Het
Otogl T A 10: 107,715,390 (GRCm39) I429F probably damaging Het
Pank4 G T 4: 155,061,678 (GRCm39) G532C probably damaging Het
Plce1 A G 19: 38,710,315 (GRCm39) T1150A probably damaging Het
Ppp2r2b T C 18: 43,192,224 (GRCm39) probably null Het
Prkrip1 A G 5: 136,226,636 (GRCm39) M68T probably damaging Het
Psme4 T A 11: 30,806,896 (GRCm39) probably benign Het
Raet1d T A 10: 22,247,293 (GRCm39) I123N probably damaging Het
Rp1 T G 1: 4,267,808 (GRCm39) T825P unknown Het
Rttn T C 18: 89,039,816 (GRCm39) I839T probably damaging Het
Sgo2b G A 8: 64,379,707 (GRCm39) Q1042* probably null Het
Skint11 A G 4: 114,088,925 (GRCm39) T240A probably benign Het
Speg A T 1: 75,392,247 (GRCm39) K1382* probably null Het
Srsf7 A T 17: 80,513,282 (GRCm39) D68E probably damaging Het
Stag3 A T 5: 138,287,468 (GRCm39) D131V probably damaging Het
Strip2 T A 6: 29,926,570 (GRCm39) C152S probably damaging Het
Timm44 G T 8: 4,317,747 (GRCm39) D191E probably benign Het
Tlnrd1 A G 7: 83,531,987 (GRCm39) V148A probably damaging Het
Trp63 T C 16: 25,582,146 (GRCm39) probably null Het
Tusc3 G C 8: 39,538,560 (GRCm39) G200R probably damaging Het
Vmn2r10 T G 5: 109,146,944 (GRCm39) N448T probably benign Het
Vmn2r50 G A 7: 9,783,986 (GRCm39) R163C probably benign Het
Vmn2r53 T C 7: 12,316,328 (GRCm39) H497R probably benign Het
Vps39 A G 2: 120,176,131 (GRCm39) V83A possibly damaging Het
Ylpm1 A T 12: 85,075,858 (GRCm39) N861I possibly damaging Het
Zfp712 A G 13: 67,189,769 (GRCm39) C253R probably damaging Het
Zfp930 A G 8: 69,680,556 (GRCm39) T84A probably benign Het
Other mutations in Nrg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02402:Nrg4 APN 9 55,135,198 (GRCm39) utr 3 prime probably benign
R1840:Nrg4 UTSW 9 55,189,890 (GRCm39) start gained probably benign
R4524:Nrg4 UTSW 9 55,135,186 (GRCm39) utr 3 prime probably benign
R4824:Nrg4 UTSW 9 55,156,405 (GRCm39) intron probably benign
R4877:Nrg4 UTSW 9 55,166,679 (GRCm39) missense probably benign 0.00
R5057:Nrg4 UTSW 9 55,189,880 (GRCm39) utr 5 prime probably benign
R6053:Nrg4 UTSW 9 55,143,774 (GRCm39) missense probably benign 0.34
R6254:Nrg4 UTSW 9 55,143,796 (GRCm39) missense possibly damaging 0.53
R7158:Nrg4 UTSW 9 55,149,384 (GRCm39) missense probably damaging 0.99
R9393:Nrg4 UTSW 9 55,149,420 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAGCAACCATCTATTTGGGG -3'
(R):5'- ACTCCAACTGAGGGCTGTTAAC -3'

Sequencing Primer
(F):5'- ATTACAGCCCTGGGTGTA -3'
(R):5'- CCAACTGAGGGCTGTTAACACAATAG -3'
Posted On 2017-06-26