Incidental Mutation 'R5479:Nrg1'
| ID |
434214 |
| 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 |
043040-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5479 (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 32308405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 537
(Y537C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000209107]
[ENSMUST00000208617]
[ENSMUST00000208598]
[ENSMUST00000208819]
[ENSMUST00000208497]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073884
AA Change: Y585C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: Y585C
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000207417
AA Change: Y522C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207470
AA Change: Y530C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207678
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208205
AA Change: Y525C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208488
AA Change: Y548C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209107
AA Change: Y537C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.3%
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
G |
T |
19: 55,268,894 (GRCm39) |
C185F |
probably damaging |
Het |
| Adad2 |
C |
A |
8: 120,341,654 (GRCm39) |
T185N |
possibly damaging |
Het |
| Apbb1 |
A |
T |
7: 105,214,232 (GRCm39) |
V315E |
probably damaging |
Het |
| Arfrp1 |
T |
C |
2: 181,006,191 (GRCm39) |
T32A |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,253,999 (GRCm39) |
S41P |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,721,743 (GRCm39) |
|
probably null |
Het |
| Chd8 |
C |
T |
14: 52,452,652 (GRCm39) |
G1289D |
probably benign |
Het |
| Ctrl |
A |
G |
8: 106,659,672 (GRCm39) |
F59S |
probably damaging |
Het |
| Cyp4v3 |
T |
A |
8: 45,763,243 (GRCm39) |
D356V |
probably benign |
Het |
| Dgka |
T |
A |
10: 128,565,541 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,262,265 (GRCm39) |
Y2043H |
probably damaging |
Het |
| Eya3 |
A |
G |
4: 132,400,244 (GRCm39) |
T88A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,489,912 (GRCm39) |
D3608G |
possibly damaging |
Het |
| Fmo1 |
T |
C |
1: 162,677,793 (GRCm39) |
T108A |
probably damaging |
Het |
| Frs3 |
A |
G |
17: 48,012,635 (GRCm39) |
E114G |
probably damaging |
Het |
| Ftcd |
A |
T |
10: 76,413,850 (GRCm39) |
M85L |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,745,169 (GRCm39) |
S189G |
probably benign |
Het |
| Gm3629 |
C |
T |
14: 17,875,765 (GRCm39) |
R35H |
unknown |
Het |
| Gnai2 |
T |
G |
9: 107,512,365 (GRCm39) |
M18L |
probably benign |
Het |
| Gpx5 |
T |
C |
13: 21,476,805 (GRCm39) |
Y9C |
probably benign |
Het |
| Grik1 |
C |
A |
16: 87,732,914 (GRCm39) |
A668S |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,445,011 (GRCm39) |
M83L |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,156,075 (GRCm39) |
R227G |
probably benign |
Het |
| Maz |
A |
T |
7: 126,624,860 (GRCm39) |
V197D |
possibly damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,917 (GRCm39) |
V241A |
probably damaging |
Het |
| Mdga2 |
C |
T |
12: 66,701,950 (GRCm39) |
C417Y |
probably damaging |
Het |
| Mios |
C |
T |
6: 8,215,314 (GRCm39) |
T170I |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,239,648 (GRCm39) |
A733T |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nfs1 |
G |
A |
2: 155,970,422 (GRCm39) |
T297I |
probably damaging |
Het |
| Nrbf2 |
A |
G |
10: 67,120,870 (GRCm39) |
|
probably null |
Het |
| Onecut3 |
T |
A |
10: 80,349,856 (GRCm39) |
L450Q |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,035 (GRCm39) |
D302G |
probably benign |
Het |
| Pard3 |
G |
A |
8: 128,096,836 (GRCm39) |
R333Q |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,861,552 (GRCm39) |
F962L |
probably benign |
Het |
| Pilra |
A |
G |
5: 137,834,318 (GRCm39) |
S22P |
possibly damaging |
Het |
| Piwil4 |
T |
C |
9: 14,616,337 (GRCm39) |
Y673C |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,476,181 (GRCm39) |
D1134N |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,909,453 (GRCm39) |
V681A |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,931,648 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
C |
T |
6: 23,001,665 (GRCm39) |
L1252F |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,646,625 (GRCm39) |
E1999G |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,780,714 (GRCm39) |
|
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,904,801 (GRCm39) |
V789A |
possibly damaging |
Het |
| Zfp148 |
C |
A |
16: 33,317,589 (GRCm39) |
Q712K |
probably damaging |
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 |
|
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'- CCCAGGAATGGTGTATCTTCAC -3'
(R):5'- AAATGTCTCCACCCGTGTCC -3'
Sequencing Primer
(F):5'- GTGTATCTTCACCTACTCTTTCATC -3'
(R):5'- AGCATGACGGTGTCCATG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation