Incidental Mutation 'R1486:Nrg1'
| ID |
163472 |
| 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 |
039539-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1486 (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 32308372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 548
(E548G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000209107]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000208497]
[ENSMUST00000208819]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073884
AA Change: E596G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: E596G
| 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: E533G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207470
AA Change: E541G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208205
AA Change: E536G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
AA Change: E559G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209107
AA Change: E548G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730015C16Rik |
A |
G |
4: 108,705,143 (GRCm39) |
E19G |
probably benign |
Het |
| A730018C14Rik |
T |
C |
12: 112,382,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acrbp |
T |
A |
6: 125,027,585 (GRCm39) |
Y78N |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,166 (GRCm39) |
S422G |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,386,696 (GRCm39) |
V429A |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,622,260 (GRCm39) |
C454R |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,890 (GRCm39) |
I278T |
probably damaging |
Het |
| Birc6 |
G |
T |
17: 74,946,815 (GRCm39) |
V2845L |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,862,274 (GRCm39) |
I1008V |
probably benign |
Het |
| Catsperg1 |
C |
A |
7: 28,884,920 (GRCm39) |
K900N |
probably damaging |
Het |
| Cep20 |
A |
G |
16: 14,118,004 (GRCm39) |
V172A |
probably benign |
Het |
| Chek2 |
T |
G |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,579,338 (GRCm39) |
L633P |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,725,098 (GRCm39) |
S4352T |
probably damaging |
Het |
| Eif3c |
C |
T |
7: 126,163,893 (GRCm39) |
R50Q |
probably damaging |
Het |
| Eml6 |
A |
C |
11: 29,755,114 (GRCm39) |
I887S |
possibly damaging |
Het |
| Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
| Grm4 |
A |
G |
17: 27,653,691 (GRCm39) |
L706P |
probably damaging |
Het |
| Irak3 |
T |
C |
10: 119,978,966 (GRCm39) |
D495G |
probably damaging |
Het |
| Itga9 |
T |
G |
9: 118,455,518 (GRCm39) |
V64G |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,230,309 (GRCm39) |
I759T |
probably damaging |
Het |
| Kdm3b |
T |
A |
18: 34,967,357 (GRCm39) |
F1721I |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,755,395 (GRCm39) |
V390E |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,301,449 (GRCm39) |
T1195I |
probably benign |
Het |
| Mphosph8 |
C |
T |
14: 56,926,496 (GRCm39) |
T646I |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,642,391 (GRCm39) |
V422D |
probably damaging |
Het |
| Nt5el |
T |
C |
13: 105,246,291 (GRCm39) |
V284A |
probably benign |
Het |
| Nup37 |
T |
C |
10: 87,984,116 (GRCm39) |
Y11H |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,608 (GRCm39) |
V27I |
probably benign |
Het |
| Or51f1e |
A |
T |
7: 102,747,637 (GRCm39) |
I230F |
probably damaging |
Het |
| Or52s19 |
T |
A |
7: 103,008,201 (GRCm39) |
M67L |
possibly damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,825 (GRCm39) |
H65L |
probably damaging |
Het |
| Pcgf1 |
T |
G |
6: 83,056,107 (GRCm39) |
S70R |
probably damaging |
Het |
| Potefam1 |
T |
G |
2: 111,030,703 (GRCm39) |
Q402P |
possibly damaging |
Het |
| Prps1l3 |
C |
T |
12: 57,285,573 (GRCm39) |
A121V |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,792,917 (GRCm39) |
Y57H |
probably damaging |
Het |
| Rbm12b2 |
A |
G |
4: 12,094,841 (GRCm39) |
R567G |
probably benign |
Het |
| Rep15 |
T |
A |
6: 146,934,577 (GRCm39) |
F139I |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,048,954 (GRCm39) |
Y92C |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,477,141 (GRCm39) |
T803A |
probably benign |
Het |
| Skint11 |
G |
A |
4: 114,052,015 (GRCm39) |
|
probably null |
Het |
| Sobp |
T |
G |
10: 42,898,518 (GRCm39) |
S356R |
probably benign |
Het |
| Spats2l |
T |
C |
1: 57,939,970 (GRCm39) |
I228T |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,649,565 (GRCm39) |
|
probably null |
Het |
| Stox1 |
T |
C |
10: 62,500,415 (GRCm39) |
D715G |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,219,121 (GRCm39) |
G275W |
probably damaging |
Het |
| Tmc5 |
C |
T |
7: 118,272,655 (GRCm39) |
P942S |
probably benign |
Het |
| Tor4a |
A |
T |
2: 25,084,691 (GRCm39) |
I404N |
possibly damaging |
Het |
| Ttc3 |
G |
A |
16: 94,248,988 (GRCm39) |
R1162Q |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,816,808 (GRCm39) |
K164E |
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 |
|
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'- GACAGCCTGGCCTGTAATTCTTCC -3'
(R):5'- TGTAGATTTCCACACGCCAAGCTC -3'
Sequencing Primer
(F):5'- AATTCTTCCTGTGTGGAGAAGC -3'
(R):5'- TCAGCCCCTTTGTGGAAGAAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation