Incidental Mutation 'IGL01998:Nrg1'
ID 182980
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 # IGL01998
Quality Score
Status
Chromosome 8
Chromosomal Location 32299493-33381858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32408162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 24 (S24G)
Ref Sequence ENSEMBL: ENSMUSP00000073546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073884] [ENSMUST00000207417] [ENSMUST00000207470] [ENSMUST00000208205] [ENSMUST00000208488] [ENSMUST00000208497] [ENSMUST00000208617] [ENSMUST00000208819] [ENSMUST00000208931] [ENSMUST00000208598] [ENSMUST00000209022] [ENSMUST00000209107]
AlphaFold A0A140LHZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000073884
AA Change: S24G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: S24G

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 noncoding transcript
Transcript: ENSMUST00000208206
Predicted Effect probably benign
Transcript: ENSMUST00000208335
Predicted Effect probably benign
Transcript: ENSMUST00000208488
Predicted Effect probably benign
Transcript: ENSMUST00000208497
AA Change: S24G

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000208617
Predicted Effect probably benign
Transcript: ENSMUST00000208819
Predicted Effect probably benign
Transcript: ENSMUST00000208931
Predicted Effect probably benign
Transcript: ENSMUST00000208598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208820
Predicted Effect probably benign
Transcript: ENSMUST00000209022
Predicted Effect probably benign
Transcript: ENSMUST00000209107
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc3 T C 5: 122,541,470 (GRCm39) C78R probably damaging Het
Atp6v0b A G 4: 117,743,263 (GRCm39) probably null Het
B3gnt8 A G 7: 25,328,203 (GRCm39) Y211C probably damaging Het
Birc6 T C 17: 74,886,880 (GRCm39) I736T probably benign Het
Bltp1 T C 3: 37,011,165 (GRCm39) S1788P possibly damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
C3ar1 A T 6: 122,827,899 (GRCm39) M106K probably damaging Het
C9orf72 A T 4: 35,194,179 (GRCm39) D205E probably benign Het
Cab39l T A 14: 59,734,344 (GRCm39) L21Q probably damaging Het
Casp1 A T 9: 5,303,043 (GRCm39) I166F probably damaging Het
Cd180 A G 13: 102,841,722 (GRCm39) E256G probably damaging Het
Clca4a T C 3: 144,663,887 (GRCm39) T519A probably damaging Het
Clstn3 A T 6: 124,435,622 (GRCm39) L233Q probably damaging Het
Crlf3 G A 11: 79,948,845 (GRCm39) probably benign Het
Depdc5 T C 5: 33,102,495 (GRCm39) probably benign Het
Drc7 T A 8: 95,785,821 (GRCm39) C226S probably damaging Het
Epha5 T A 5: 84,232,593 (GRCm39) D807V probably damaging Het
Fat2 A G 11: 55,187,021 (GRCm39) L1275P probably benign Het
Fv1 T C 4: 147,953,784 (GRCm39) C117R possibly damaging Het
Ighg2b C A 12: 113,270,709 (GRCm39) M140I unknown Het
Klra5 A T 6: 129,883,676 (GRCm39) Y60* probably null Het
Lmtk2 C T 5: 144,112,883 (GRCm39) T1201I probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Ncapd2 A T 6: 125,146,896 (GRCm39) L1230H probably damaging Het
Nfx1 T A 4: 41,004,353 (GRCm39) I708N probably damaging Het
Notch2 A T 3: 98,050,422 (GRCm39) D1899V probably damaging Het
Npepl1 T A 2: 173,957,993 (GRCm39) probably benign Het
Nps T A 7: 134,870,481 (GRCm39) probably benign Het
Or1j20 A G 2: 36,759,658 (GRCm39) N27D probably benign Het
Or2ag16 G A 7: 106,351,758 (GRCm39) T279M possibly damaging Het
Or2t48 A T 11: 58,420,403 (GRCm39) Y136* probably null Het
Or4k2 C A 14: 50,424,105 (GRCm39) V190L probably benign Het
Pigx G T 16: 31,903,428 (GRCm39) T211K probably benign Het
Pink1 A G 4: 138,048,053 (GRCm39) I223T probably damaging Het
Plat G A 8: 23,257,163 (GRCm39) A15T probably benign Het
Ptges2 G A 2: 32,291,542 (GRCm39) A310T possibly damaging Het
Rsl1d1 A G 16: 11,012,509 (GRCm39) S306P possibly damaging Het
Rxfp1 T C 3: 79,567,403 (GRCm39) K316E probably benign Het
Scn10a A G 9: 119,438,742 (GRCm39) I1708T probably damaging Het
Sdk2 A T 11: 113,729,358 (GRCm39) F1073Y probably damaging Het
Sp100 A G 1: 85,594,650 (GRCm39) D170G probably benign Het
Spock1 A T 13: 57,583,994 (GRCm39) probably benign Het
Strbp A G 2: 37,515,297 (GRCm39) L243P probably damaging Het
Tex55 A T 16: 38,648,586 (GRCm39) D174E probably benign Het
Tgm5 T A 2: 120,882,920 (GRCm39) T446S probably damaging Het
Tmem59l C T 8: 70,937,431 (GRCm39) V239I probably benign Het
Trav8-1 A T 14: 53,707,662 (GRCm39) T101S probably benign Het
Triml1 T C 8: 43,594,350 (GRCm39) D27G probably damaging Het
Vmn2r54 T C 7: 12,349,227 (GRCm39) E785G probably benign Het
Vps13c A G 9: 67,862,350 (GRCm39) probably null Het
Wwp2 C T 8: 108,276,153 (GRCm39) R64C probably damaging Het
Zfp608 T C 18: 55,024,890 (GRCm39) H1460R probably 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
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
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 2014-05-07