Incidental Mutation 'R6254:Nrg4'
ID 505996
Institutional Source Beutler Lab
Gene Symbol Nrg4
Ensembl Gene ENSMUSG00000032311
Gene Name neuregulin 4
Synonyms
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6254 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 55127506-55190937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55143796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 87 (H87N)
Ref Sequence ENSEMBL: ENSMUSP00000130929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000130158] [ENSMUST00000135531] [ENSMUST00000137675] [ENSMUST00000164721] [ENSMUST00000145784]
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 possibly damaging
Transcript: ENSMUST00000130158
AA Change: H87N

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115247
Gene: ENSMUSG00000032311
AA Change: H87N

DomainStartEndE-ValueType
EGF 8 46 4.78e-3 SMART
transmembrane domain 61 83 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135531
Predicted Effect probably benign
Transcript: ENSMUST00000137675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139261
Predicted Effect possibly damaging
Transcript: ENSMUST00000164721
AA Change: H87N

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130929
Gene: ENSMUSG00000032311
AA Change: H87N

DomainStartEndE-ValueType
EGF 8 46 4.78e-3 SMART
transmembrane domain 61 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144939
Predicted Effect probably benign
Transcript: ENSMUST00000145784
SMART Domains Protein: ENSMUSP00000115851
Gene: ENSMUSG00000032311

DomainStartEndE-ValueType
Blast:EGF 8 35 9e-13 BLAST
SCOP:d1jl9a_ 9 35 6e-7 SMART
Meta Mutation Damage Score 0.0849 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L probably damaging 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
R6004:Nrg4 UTSW 9 55,166,667 (GRCm39) missense possibly damaging 0.66
R6053:Nrg4 UTSW 9 55,143,774 (GRCm39) missense probably benign 0.34
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'- GGCCACCCTTCTTTGAATGG -3'
(R):5'- GCTTAGCGGTATCCAGAGTC -3'

Sequencing Primer
(F):5'- TGGCTGTGAACATAGTCCATACAC -3'
(R):5'- CGCTGAAGAAAGAATGTACT -3'
Posted On 2018-02-28