Incidental Mutation 'IGL03121:Nrg1'
ID 409992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrg1
Ensembl Gene ENSMUSG00000062991
Gene Name neuregulin 1
Synonyms NDF, Hgl, GGF, HRG, HGL, SMDF, heregulin, D230005F13Rik, HRGalpha, 6030402G23Rik, ARIA, GGFII
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03121
Quality Score
Status
Chromosome 8
Chromosomal Location 32299493-33381858 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 32314608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073884] [ENSMUST00000207417] [ENSMUST00000207470] [ENSMUST00000208205] [ENSMUST00000208488] [ENSMUST00000208497] [ENSMUST00000208598] [ENSMUST00000208617] [ENSMUST00000209107] [ENSMUST00000209022] [ENSMUST00000208819] [ENSMUST00000208931]
AlphaFold A0A140LHZ9
Predicted Effect probably benign
Transcript: ENSMUST00000073884
SMART Domains Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991

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: ENSMUST00000207678
Predicted Effect probably benign
Transcript: ENSMUST00000208205
Predicted Effect probably benign
Transcript: ENSMUST00000208335
Predicted Effect probably benign
Transcript: ENSMUST00000208488
Predicted Effect probably benign
Transcript: ENSMUST00000208497
Predicted Effect probably benign
Transcript: ENSMUST00000208598
Predicted Effect probably benign
Transcript: ENSMUST00000208617
Predicted Effect probably benign
Transcript: ENSMUST00000209107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208355
Predicted Effect probably benign
Transcript: ENSMUST00000209022
Predicted Effect probably benign
Transcript: ENSMUST00000208819
Predicted Effect probably benign
Transcript: ENSMUST00000208931
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B09Rik A G 9: 14,672,946 (GRCm39) S4P possibly damaging Het
A2m A G 6: 121,618,265 (GRCm39) N186S probably benign Het
Afg2a T C 3: 37,518,800 (GRCm39) I778T probably damaging Het
Ago1 T C 4: 126,353,796 (GRCm39) K261R probably benign Het
Alas1 G A 9: 106,124,113 (GRCm39) P15L probably damaging Het
Aox1 G A 1: 58,398,113 (GRCm39) V1285M probably damaging Het
Brd8 A T 18: 34,739,740 (GRCm39) F678I probably damaging Het
Col27a1 T A 4: 63,143,446 (GRCm39) M378K probably benign Het
Dpy19l4 C A 4: 11,303,334 (GRCm39) V196F probably damaging Het
Dst G T 1: 34,256,884 (GRCm39) probably benign Het
Hsd17b1 T A 11: 100,970,870 (GRCm39) Y275* probably null Het
Kdm3b A G 18: 34,928,762 (GRCm39) E171G probably damaging Het
Klc1 T C 12: 111,748,076 (GRCm39) probably benign Het
Mlkl G A 8: 112,041,612 (GRCm39) R443W probably damaging Het
Mov10 A T 3: 104,708,318 (GRCm39) V477E probably benign Het
Nacad A G 11: 6,550,933 (GRCm39) S753P probably damaging Het
Ncapd2 A C 6: 125,150,575 (GRCm39) M842R probably benign Het
Nkd2 C A 13: 73,969,498 (GRCm39) A311S probably benign Het
Or4f6 A G 2: 111,838,953 (GRCm39) Y193H probably benign Het
Or6c68 A G 10: 129,158,037 (GRCm39) I182V probably benign Het
Pde6h A G 6: 136,936,280 (GRCm39) S8G probably null Het
Pik3c2b A G 1: 133,007,483 (GRCm39) K616E probably benign Het
Pnpt1 A T 11: 29,082,845 (GRCm39) R54S probably benign Het
Pramel38 T C 5: 94,368,912 (GRCm39) V469A possibly damaging Het
Rttn A G 18: 88,993,875 (GRCm39) D184G probably damaging Het
Skint5 T A 4: 113,574,284 (GRCm39) I756F unknown Het
Slc24a2 T C 4: 87,145,143 (GRCm39) T304A probably benign Het
Stk3 A T 15: 35,099,572 (GRCm39) probably benign Het
Trim69 A G 2: 121,998,128 (GRCm39) I33M probably benign Het
Ube2q2 A T 9: 55,102,323 (GRCm39) probably benign Het
Vmn1r67 T A 7: 10,181,394 (GRCm39) N158K probably benign Het
Wipi2 G A 5: 142,648,857 (GRCm39) E252K probably benign 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
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
R4569:Nrg1 UTSW 8 32,407,802 (GRCm39) missense probably benign 0.00
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
Posted On 2016-08-02