Incidental Mutation 'R4569:Nrg1'
ID 342006
Institutional Source Beutler Lab
Gene Symbol Nrg1
Ensembl Gene ENSMUSG00000062991
Gene Name neuregulin 1
Synonyms NDF, Hgl, GGF, HRG, HGL, SMDF, heregulin, D230005F13Rik, HRGalpha, 6030402G23Rik, ARIA, GGFII
MMRRC Submission 041793-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4569 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 32299493-33381858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32407802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 144 (V144I)
Ref Sequence ENSEMBL: ENSMUSP00000146816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073884] [ENSMUST00000207417] [ENSMUST00000207470] [ENSMUST00000208205] [ENSMUST00000208497] [ENSMUST00000208598] [ENSMUST00000208931] [ENSMUST00000208488] [ENSMUST00000208819] [ENSMUST00000209022] [ENSMUST00000208617] [ENSMUST00000209107]
AlphaFold A0A140LHZ9
Predicted Effect probably benign
Transcript: ENSMUST00000073884
AA Change: V144I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: V144I

DomainStartEndE-ValueType
transmembrane domain 78 100 N/A INTRINSIC
low complexity region 180 198 N/A INTRINSIC
low complexity region 223 232 N/A INTRINSIC
EGF 236 277 7.88e-4 SMART
Pfam:Neuregulin 295 688 5.3e-193 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207417
Predicted Effect probably benign
Transcript: ENSMUST00000207470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207678
Predicted Effect probably benign
Transcript: ENSMUST00000208205
Predicted Effect probably benign
Transcript: ENSMUST00000208497
AA Change: V144I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208206
Predicted Effect probably benign
Transcript: ENSMUST00000208598
Predicted Effect probably benign
Transcript: ENSMUST00000208931
Predicted Effect probably benign
Transcript: ENSMUST00000208488
Predicted Effect probably benign
Transcript: ENSMUST00000208335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208820
Predicted Effect probably benign
Transcript: ENSMUST00000208819
Predicted Effect probably benign
Transcript: ENSMUST00000209022
Predicted Effect probably benign
Transcript: ENSMUST00000208617
Predicted Effect probably benign
Transcript: ENSMUST00000209107
Meta Mutation Damage Score 0.0608 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 99% (87/88)
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit heart defects, impaired development of Schwann cell precursors, cranial ganglia, and radial glia cells, and die at embryonic day 10.5-11.5. Heterozygotes are hyperactive with reduced NMDA receptors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,275,262 (GRCm39) T322A probably benign Het
Abhd13 C T 8: 10,038,071 (GRCm39) P223S possibly damaging Het
Adgra3 T A 5: 50,117,905 (GRCm39) L1214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd13a C A 5: 114,927,373 (GRCm39) P120Q probably damaging Het
Apbb1ip A G 2: 22,739,556 (GRCm39) Y277C probably damaging Het
Arfgap1 T C 2: 180,618,166 (GRCm39) probably benign Het
Arid2 T A 15: 96,290,343 (GRCm39) V1746D probably damaging Het
C1qtnf7 T A 5: 43,766,549 (GRCm39) N49K possibly damaging Het
Cacnb2 A T 2: 14,990,811 (GRCm39) D587V possibly damaging Het
Ccar2 A T 14: 70,389,359 (GRCm39) probably null Het
Cdk2ap2 T C 19: 4,147,879 (GRCm39) F49L possibly damaging Het
Cdon A T 9: 35,388,265 (GRCm39) I747F probably damaging Het
Cyp19a1 G A 9: 54,100,607 (GRCm39) P27S probably benign Het
Cyp4v3 T A 8: 45,760,029 (GRCm39) R508W probably damaging Het
Dclk1 T C 3: 55,154,831 (GRCm39) L87P probably damaging Het
Ddx41 G A 13: 55,683,834 (GRCm39) R66C possibly damaging Het
Dmxl1 T C 18: 49,985,427 (GRCm39) Y225H probably damaging Het
Dnah7a G A 1: 53,450,818 (GRCm39) P3871S probably benign Het
Dnhd1 A G 7: 105,306,373 (GRCm39) probably null Het
Dph1 A T 11: 75,069,721 (GRCm39) probably benign Het
Egln2 A G 7: 26,859,008 (GRCm39) I382T probably damaging Het
Enpp3 A G 10: 24,652,780 (GRCm39) Y726H probably damaging Het
Fbxo32 A G 15: 58,044,873 (GRCm39) F353L probably damaging Het
Fchsd2 G A 7: 100,926,809 (GRCm39) G657D possibly damaging Het
Fer1l4 T A 2: 155,878,559 (GRCm39) E44V possibly damaging Het
Gjb2 C T 14: 57,337,762 (GRCm39) V149I probably benign Het
Glipr1l1 A G 10: 111,898,317 (GRCm39) M141V probably benign Het
Gnaq T C 19: 16,312,370 (GRCm39) S211P probably damaging Het
Gnl1 A G 17: 36,299,142 (GRCm39) R527G probably benign Het
Gns A G 10: 121,217,083 (GRCm39) Q286R probably benign Het
Gon4l T C 3: 88,817,397 (GRCm39) probably benign Het
Gpr107 T C 2: 31,097,677 (GRCm39) probably benign Het
Gprasp1 C T X: 134,703,592 (GRCm39) R1262C probably damaging Het
Gtf2ird1 A T 5: 134,439,857 (GRCm39) D124E probably damaging Het
Hbp1 T A 12: 32,000,231 (GRCm39) probably benign Het
Hrnr C T 3: 93,230,875 (GRCm39) T371I unknown Het
Ints2 A G 11: 86,147,024 (GRCm39) C41R probably damaging Het
Jhy A G 9: 40,822,389 (GRCm39) I583T probably benign Het
Jph4 G T 14: 55,352,503 (GRCm39) R77S probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhl12 A T 1: 134,413,507 (GRCm39) I331F probably benign Het
Map4k4 G A 1: 40,039,698 (GRCm39) R30Q probably damaging Het
Mgst1 C A 6: 138,133,213 (GRCm39) T176K probably damaging Het
Negr1 C A 3: 156,914,013 (GRCm39) probably benign Het
Ntmt2 T A 1: 163,530,586 (GRCm39) *284C probably null Het
Or1ad8 T C 11: 50,898,381 (GRCm39) I194T possibly damaging Het
Otog A G 7: 45,959,571 (GRCm39) D720G probably damaging Het
Pex11b A T 3: 96,551,330 (GRCm39) probably benign Het
Phtf2 T C 5: 20,994,593 (GRCm39) probably benign Het
Ppip5k1 C T 2: 121,174,044 (GRCm39) R359Q possibly damaging Het
Prickle2 T C 6: 92,399,323 (GRCm39) I185V probably benign Het
Prrc2a G A 17: 35,377,473 (GRCm39) P562S unknown Het
Rdx A G 9: 51,980,141 (GRCm39) I245V probably benign Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rhob T G 12: 8,549,373 (GRCm39) D87A probably damaging Het
Ros1 T A 10: 52,040,090 (GRCm39) E300D probably damaging Het
Sbf2 A G 7: 109,948,060 (GRCm39) probably null Het
Sipa1l3 G T 7: 29,025,287 (GRCm39) P619Q probably damaging Het
Snupn A G 9: 56,885,346 (GRCm39) E217G probably benign Het
Ston2 T A 12: 91,606,496 (GRCm39) *896C probably null Het
Stradb C T 1: 59,019,117 (GRCm39) R13* probably null Het
Tbx21 G A 11: 97,005,581 (GRCm39) A128V probably benign Het
Tep1 A T 14: 51,062,197 (GRCm39) C2552S probably benign Het
Tgif1 A T 17: 71,151,912 (GRCm39) V233E possibly damaging Het
Trim31 A T 17: 37,209,633 (GRCm39) I130L probably benign Het
Trrap C T 5: 144,728,928 (GRCm39) T614I probably benign Het
Ttn C A 2: 76,766,758 (GRCm39) V3107F probably damaging Het
Txnrd2 T G 16: 18,274,956 (GRCm39) D322E probably benign Het
Unc45b T A 11: 82,827,315 (GRCm39) probably null Het
Usp43 C T 11: 67,789,788 (GRCm39) C252Y probably damaging Het
Usp43 A T 11: 67,766,178 (GRCm39) L744* probably null Het
Vmn2r71 A C 7: 85,273,402 (GRCm39) K739Q possibly damaging Het
Vps16 C T 2: 130,284,124 (GRCm39) T653M probably benign Het
Wdr83os T A 8: 85,808,495 (GRCm39) S82R probably damaging Het
Xpo6 T A 7: 125,727,427 (GRCm39) L526F probably damaging Het
Zfhx4 G A 3: 5,466,894 (GRCm39) V2351I probably benign Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly damaging Het
Other mutations in Nrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Nrg1 APN 8 32,308,117 (GRCm39) missense probably damaging 0.99
IGL00500:Nrg1 APN 8 32,312,342 (GRCm39) splice site probably null
IGL01150:Nrg1 APN 8 32,407,903 (GRCm39) missense probably damaging 1.00
IGL01998:Nrg1 APN 8 32,408,162 (GRCm39) missense probably damaging 0.99
IGL02010:Nrg1 APN 8 32,408,171 (GRCm39) missense probably benign 0.00
IGL02501:Nrg1 APN 8 32,308,291 (GRCm39) splice site probably null
IGL02741:Nrg1 APN 8 32,312,316 (GRCm39) missense probably damaging 1.00
IGL02754:Nrg1 APN 8 32,316,391 (GRCm39) splice site probably benign
IGL03056:Nrg1 APN 8 32,311,451 (GRCm39) missense possibly damaging 0.93
IGL03121:Nrg1 APN 8 32,314,608 (GRCm39) splice site probably benign
R6805_Nrg1_535 UTSW 8 32,311,292 (GRCm39) missense probably damaging 1.00
R0533:Nrg1 UTSW 8 32,321,273 (GRCm39) splice site probably null
R1170:Nrg1 UTSW 8 32,327,695 (GRCm39) splice site probably benign
R1405:Nrg1 UTSW 8 32,407,855 (GRCm39) missense probably benign 0.16
R1405:Nrg1 UTSW 8 32,407,855 (GRCm39) missense probably benign 0.16
R1486:Nrg1 UTSW 8 32,308,372 (GRCm39) missense probably damaging 1.00
R1642:Nrg1 UTSW 8 32,314,536 (GRCm39) missense probably benign 0.45
R1653:Nrg1 UTSW 8 32,308,681 (GRCm39) missense probably damaging 1.00
R1762:Nrg1 UTSW 8 32,312,351 (GRCm39) missense probably damaging 0.99
R1951:Nrg1 UTSW 8 32,408,221 (GRCm39) missense probably damaging 1.00
R2060:Nrg1 UTSW 8 32,408,043 (GRCm39) missense probably damaging 1.00
R2912:Nrg1 UTSW 8 32,308,595 (GRCm39) missense probably damaging 1.00
R3786:Nrg1 UTSW 8 32,311,411 (GRCm39) missense probably damaging 1.00
R4513:Nrg1 UTSW 8 32,967,105 (GRCm39) intron probably benign
R4760:Nrg1 UTSW 8 32,408,228 (GRCm39) nonsense probably null
R4769:Nrg1 UTSW 8 32,408,000 (GRCm39) missense probably damaging 1.00
R4834:Nrg1 UTSW 8 32,407,747 (GRCm39) missense probably benign
R5058:Nrg1 UTSW 8 32,314,587 (GRCm39) missense probably damaging 1.00
R5230:Nrg1 UTSW 8 32,308,507 (GRCm39) missense probably damaging 0.99
R5443:Nrg1 UTSW 8 32,339,348 (GRCm39) missense probably damaging 1.00
R5479:Nrg1 UTSW 8 32,308,405 (GRCm39) missense probably damaging 1.00
R5940:Nrg1 UTSW 8 32,339,372 (GRCm39) missense probably damaging 0.99
R6010:Nrg1 UTSW 8 32,308,600 (GRCm39) missense probably damaging 1.00
R6170:Nrg1 UTSW 8 32,308,508 (GRCm39) missense probably damaging 1.00
R6379:Nrg1 UTSW 8 33,373,749 (GRCm39) start gained probably benign
R6460:Nrg1 UTSW 8 32,308,561 (GRCm39) missense probably damaging 1.00
R6750:Nrg1 UTSW 8 32,308,124 (GRCm39) missense probably damaging 1.00
R6767:Nrg1 UTSW 8 32,407,923 (GRCm39) missense probably damaging 1.00
R6802:Nrg1 UTSW 8 32,311,292 (GRCm39) missense probably damaging 1.00
R6804:Nrg1 UTSW 8 32,311,292 (GRCm39) missense probably damaging 1.00
R6805:Nrg1 UTSW 8 32,311,292 (GRCm39) missense probably damaging 1.00
R6848:Nrg1 UTSW 8 32,308,084 (GRCm39) missense probably damaging 1.00
R6930:Nrg1 UTSW 8 32,308,534 (GRCm39) missense probably damaging 1.00
R6963:Nrg1 UTSW 8 32,407,690 (GRCm39) missense probably benign 0.04
R7070:Nrg1 UTSW 8 32,339,465 (GRCm39) missense probably damaging 0.99
R7176:Nrg1 UTSW 8 32,458,064 (GRCm39) nonsense probably null
R7490:Nrg1 UTSW 8 32,308,682 (GRCm39) missense probably damaging 1.00
R7526:Nrg1 UTSW 8 32,308,351 (GRCm39) missense probably benign 0.00
R7664:Nrg1 UTSW 8 32,499,169 (GRCm39) splice site probably null
R7881:Nrg1 UTSW 8 32,328,352 (GRCm39) nonsense probably null
R8013:Nrg1 UTSW 8 32,439,951 (GRCm39) missense probably benign 0.41
R8342:Nrg1 UTSW 8 32,312,334 (GRCm39) missense probably benign 0.04
R8759:Nrg1 UTSW 8 32,308,103 (GRCm39) missense probably damaging 1.00
R8783:Nrg1 UTSW 8 32,448,629 (GRCm39) missense probably benign 0.09
R9319:Nrg1 UTSW 8 32,323,204 (GRCm39) missense probably benign 0.02
R9429:Nrg1 UTSW 8 32,308,592 (GRCm39) missense probably benign 0.01
R9535:Nrg1 UTSW 8 32,439,995 (GRCm39) missense probably benign 0.13
R9632:Nrg1 UTSW 8 32,407,621 (GRCm39) missense possibly damaging 0.48
Z1088:Nrg1 UTSW 8 32,408,033 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- CCTGACTTGGGTGTTCTCAC -3'
(R):5'- ACTCCGAGAAGATCTGCATTG -3'

Sequencing Primer
(F):5'- CCTCAGGGGTCCGAGCTG -3'
(R):5'- CGAGAAGATCTGCATTGTTCCC -3'
Posted On 2015-09-24