Incidental Mutation 'R1405:Nrg1'
ID 188696
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1405 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 32299493-33381858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32407855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 126 (D126G)
Ref Sequence ENSEMBL: ENSMUSP00000073546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073884] [ENSMUST00000207417] [ENSMUST00000207470] [ENSMUST00000208205] [ENSMUST00000208497] [ENSMUST00000209107] [ENSMUST00000208931] [ENSMUST00000208617] [ENSMUST00000208488] [ENSMUST00000209022] [ENSMUST00000208598] [ENSMUST00000208819]
AlphaFold A0A140LHZ9
Predicted Effect probably benign
Transcript: ENSMUST00000073884
AA Change: D126G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: D126G

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: D126G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000209107
Predicted Effect probably benign
Transcript: ENSMUST00000208931
Predicted Effect probably benign
Transcript: ENSMUST00000208617
Predicted Effect probably benign
Transcript: ENSMUST00000208335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208206
Predicted Effect probably benign
Transcript: ENSMUST00000208488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208820
Predicted Effect probably benign
Transcript: ENSMUST00000209022
Predicted Effect probably benign
Transcript: ENSMUST00000208598
Predicted Effect probably benign
Transcript: ENSMUST00000208819
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,059,253 (GRCm39) probably benign Het
AC163020.1 A G 7: 46,959,305 (GRCm39) S229P possibly damaging Het
Arap1 G A 7: 101,047,643 (GRCm39) probably null Het
Asb8 G A 15: 98,039,248 (GRCm39) H51Y possibly damaging Het
Capn10 T G 1: 92,872,744 (GRCm39) V490G probably benign Het
Ccdc138 T A 10: 58,380,939 (GRCm39) probably benign Het
Ccdc146 G A 5: 21,604,730 (GRCm39) S36L probably benign Het
Celsr1 C T 15: 85,789,635 (GRCm39) probably null Het
Clvs2 C A 10: 33,389,256 (GRCm39) *328L probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
D6Wsu163e G A 6: 126,951,446 (GRCm39) probably benign Het
Dstn A G 2: 143,780,356 (GRCm39) K19E probably damaging Het
Ehmt2 T A 17: 35,125,553 (GRCm39) H134Q probably benign Het
Faah G A 4: 115,858,345 (GRCm39) P411S probably damaging Het
Fn1 A G 1: 71,681,237 (GRCm39) F364L probably damaging Het
Gm5828 T C 1: 16,839,768 (GRCm39) noncoding transcript Het
Gmnc A T 16: 26,779,196 (GRCm39) N270K possibly damaging Het
Grip2 A T 6: 91,765,133 (GRCm39) probably null Het
Hmg20a A T 9: 56,384,587 (GRCm39) Q119L possibly damaging Het
Ipo7 T C 7: 109,629,048 (GRCm39) I106T probably benign Het
Ipo7 C T 7: 109,638,456 (GRCm39) P241L probably damaging Het
Katnb1 T C 8: 95,824,801 (GRCm39) Y574H probably damaging Het
Larp6 A C 9: 60,644,849 (GRCm39) M330L probably benign Het
Lrrc8e T C 8: 4,281,754 (GRCm39) Y30H probably damaging Het
Nav3 A T 10: 109,606,194 (GRCm39) probably benign Het
Nop56 T C 2: 130,119,868 (GRCm39) V420A probably benign Het
Prdm1 T A 10: 44,315,961 (GRCm39) N725I probably damaging Het
Prl3a1 A G 13: 27,459,051 (GRCm39) probably null Het
Psmd2 T C 16: 20,471,034 (GRCm39) L59P possibly damaging Het
Ptgdr2 T C 19: 10,918,395 (GRCm39) V304A probably benign Het
Ptp4a2 T A 4: 129,738,851 (GRCm39) probably benign Het
Rasa3 A G 8: 13,638,027 (GRCm39) V339A possibly damaging Het
Sec24c G A 14: 20,742,593 (GRCm39) probably null Het
Serpinb9e A G 13: 33,444,009 (GRCm39) D343G probably benign Het
Sptbn5 A T 2: 119,881,097 (GRCm39) noncoding transcript Het
Stab1 A C 14: 30,870,958 (GRCm39) V1297G probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tafa5 C T 15: 87,565,678 (GRCm39) probably benign Het
Tmprss2 G A 16: 97,398,005 (GRCm39) T57I probably benign Het
Tnrc6a A G 7: 122,770,301 (GRCm39) D697G probably damaging Het
Vwa5b2 T A 16: 20,423,066 (GRCm39) D1021E probably benign Het
Wdr46 C A 17: 34,168,057 (GRCm39) P543Q probably damaging Het
Zfp1005 T A 2: 150,109,620 (GRCm39) Y103* probably null Het
Zfp287 T A 11: 62,619,137 (GRCm39) D119V probably damaging Het
Zxdc A G 6: 90,361,225 (GRCm39) S737G 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
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
Predicted Primers PCR Primer
(F):5'- GAGTTCCTGACTTGGGTGTTCTCAC -3'
(R):5'- TGCCTCAACTCCGAGAAGATCTGC -3'

Sequencing Primer
(F):5'- GTGTTCTCACCTCAGGGGTC -3'
(R):5'- CGAGAAGATCTGCATTGTTCC -3'
Posted On 2014-05-09