Incidental Mutation 'R6379:Nrg1'
| ID |
515205 |
| 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)
|
| Stock # |
R6379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 33373749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000209022]
[ENSMUST00000209107]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
T |
2: 152,269,912 (GRCm39) |
R21S |
probably benign |
Het |
| Aadacl4fm1 |
G |
T |
4: 144,248,912 (GRCm39) |
R93L |
probably benign |
Het |
| Adcy5 |
A |
T |
16: 35,114,369 (GRCm39) |
T991S |
probably benign |
Het |
| Aldh18a1 |
A |
T |
19: 40,566,214 (GRCm39) |
|
probably null |
Het |
| Anxa1 |
T |
C |
19: 20,351,079 (GRCm39) |
*347W |
probably null |
Het |
| Aopep |
T |
A |
13: 63,216,057 (GRCm39) |
I443K |
probably damaging |
Het |
| Arid1a |
G |
T |
4: 133,408,238 (GRCm39) |
L2090I |
unknown |
Het |
| Armh3 |
A |
T |
19: 45,910,136 (GRCm39) |
V472D |
possibly damaging |
Het |
| Bambi |
T |
A |
18: 3,512,198 (GRCm39) |
L194Q |
probably damaging |
Het |
| Card9 |
A |
G |
2: 26,246,789 (GRCm39) |
V353A |
probably damaging |
Het |
| Ccdc198 |
T |
A |
14: 49,481,191 (GRCm39) |
I99F |
probably benign |
Het |
| Ccdc60 |
C |
A |
5: 116,269,082 (GRCm39) |
|
probably null |
Het |
| Ccdc71 |
A |
G |
9: 108,340,811 (GRCm39) |
K208R |
possibly damaging |
Het |
| Cdh12 |
T |
C |
15: 21,492,743 (GRCm39) |
V254A |
probably benign |
Het |
| Cep295nl |
T |
A |
11: 118,224,556 (GRCm39) |
N96I |
probably benign |
Het |
| Ces1f |
C |
A |
8: 94,006,279 (GRCm39) |
C17F |
probably benign |
Het |
| Clic6 |
C |
A |
16: 92,336,423 (GRCm39) |
T577K |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,012,996 (GRCm39) |
M1019V |
probably benign |
Het |
| Ctnnd2 |
C |
A |
15: 30,634,844 (GRCm39) |
S73Y |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 71,998,712 (GRCm39) |
L556F |
unknown |
Het |
| Dchs2 |
A |
C |
3: 83,262,453 (GRCm39) |
N2907T |
probably damaging |
Het |
| Dlgap3 |
A |
C |
4: 127,128,767 (GRCm39) |
E829A |
probably damaging |
Het |
| Dpysl5 |
A |
T |
5: 30,935,317 (GRCm39) |
|
probably null |
Het |
| Draxin |
C |
A |
4: 148,192,400 (GRCm39) |
C304F |
probably damaging |
Het |
| Eif3j1 |
A |
G |
2: 121,878,005 (GRCm39) |
D131G |
possibly damaging |
Het |
| Fads1 |
T |
C |
19: 10,160,551 (GRCm39) |
Y46H |
probably damaging |
Het |
| Fcgbpl1 |
A |
C |
7: 27,857,017 (GRCm39) |
T2122P |
probably damaging |
Het |
| Figla |
T |
A |
6: 85,995,562 (GRCm39) |
I72K |
probably damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,581,468 (GRCm39) |
S174T |
probably benign |
Het |
| Foxn3 |
C |
A |
12: 99,162,537 (GRCm39) |
A455S |
probably benign |
Het |
| Fyn |
C |
T |
10: 39,331,070 (GRCm39) |
|
probably benign |
Het |
| Gtse1 |
G |
A |
15: 85,748,425 (GRCm39) |
G277S |
probably benign |
Het |
| H2bc15 |
T |
A |
13: 21,938,588 (GRCm39) |
V99E |
probably benign |
Het |
| Icam4 |
C |
A |
9: 20,941,078 (GRCm39) |
A110E |
probably damaging |
Het |
| Itih3 |
G |
A |
14: 30,631,681 (GRCm39) |
S802L |
probably damaging |
Het |
| Kcng4 |
T |
A |
8: 120,360,359 (GRCm39) |
R6* |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,564,339 (GRCm39) |
C977S |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,960,675 (GRCm39) |
M362L |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,014,008 (GRCm39) |
I267T |
probably benign |
Het |
| Nab1 |
A |
G |
1: 52,520,156 (GRCm39) |
V275A |
probably damaging |
Het |
| Nfasc |
G |
A |
1: 132,498,280 (GRCm39) |
Q1308* |
probably null |
Het |
| Nop9 |
T |
C |
14: 55,983,249 (GRCm39) |
S7P |
possibly damaging |
Het |
| Npbwr1 |
G |
T |
1: 5,987,438 (GRCm39) |
N25K |
probably benign |
Het |
| Nptx2 |
T |
C |
5: 144,490,252 (GRCm39) |
L227P |
probably damaging |
Het |
| Nup160 |
T |
A |
2: 90,532,753 (GRCm39) |
C571* |
probably null |
Het |
| Nynrin |
T |
C |
14: 56,107,848 (GRCm39) |
L985P |
probably damaging |
Het |
| Obsl1 |
A |
C |
1: 75,479,787 (GRCm39) |
L341R |
probably damaging |
Het |
| Or1r1 |
T |
G |
11: 73,875,099 (GRCm39) |
S112R |
probably damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,381 (GRCm39) |
|
probably benign |
Het |
| Phip |
G |
T |
9: 82,795,910 (GRCm39) |
N570K |
probably damaging |
Het |
| Pigx |
A |
T |
16: 31,903,341 (GRCm39) |
I240N |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,854,051 (GRCm39) |
D37G |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,915,555 (GRCm39) |
M639K |
probably benign |
Het |
| Scnn1b |
T |
G |
7: 121,514,551 (GRCm39) |
M441R |
probably benign |
Het |
| Sh3gl1 |
A |
T |
17: 56,326,143 (GRCm39) |
M121K |
probably damaging |
Het |
| Slc30a4 |
A |
T |
2: 122,531,469 (GRCm39) |
V132D |
probably damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,575,155 (GRCm39) |
S42P |
probably benign |
Het |
| Slc66a1 |
G |
A |
4: 139,027,296 (GRCm39) |
L349F |
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,156,227 (GRCm39) |
C172R |
probably damaging |
Het |
| Suz12 |
A |
T |
11: 79,906,014 (GRCm39) |
D292V |
possibly damaging |
Het |
| Sv2b |
A |
T |
7: 74,786,048 (GRCm39) |
D457E |
possibly damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,773 (GRCm39) |
V285A |
probably benign |
Het |
| Tdo2 |
T |
A |
3: 81,866,102 (GRCm39) |
|
probably benign |
Het |
| Them7 |
G |
T |
2: 105,115,031 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
T |
C |
5: 34,660,979 (GRCm39) |
T158A |
probably damaging |
Het |
| Tonsl |
C |
T |
15: 76,513,942 (GRCm39) |
R1209H |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,745,298 (GRCm39) |
L838* |
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,848,942 (GRCm39) |
I63V |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,814,828 (GRCm39) |
N90K |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,077,574 (GRCm39) |
S1433F |
probably damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,275,141 (GRCm39) |
D158G |
probably damaging |
Het |
| Zfhx2 |
T |
A |
14: 55,311,795 (GRCm39) |
T300S |
probably benign |
Het |
| Zscan2 |
T |
A |
7: 80,513,085 (GRCm39) |
D23E |
probably benign |
Het |
|
| Other mutations in Nrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
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 |
|
| Posted On |
2018-05-04 |
Incidental Mutation