Incidental Mutation 'R4834:Nrg1'
ID |
373070 |
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 |
041977-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4834 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32407747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 162
(V162A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208497]
[ENSMUST00000208931]
[ENSMUST00000209022]
[ENSMUST00000208819]
[ENSMUST00000209107]
[ENSMUST00000208488]
[ENSMUST00000208617]
[ENSMUST00000208598]
|
AlphaFold |
A0A140LHZ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073884
AA Change: V162A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000073546 Gene: ENSMUSG00000062991 AA Change: V162A
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 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: ENSMUST00000208497
AA Change: V162A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208931
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208820
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
A |
C |
9: 53,343,787 (GRCm39) |
D146A |
possibly damaging |
Het |
Acsl5 |
C |
A |
19: 55,268,991 (GRCm39) |
D217E |
probably benign |
Het |
Acss3 |
A |
G |
10: 106,920,666 (GRCm39) |
|
probably null |
Het |
Adam24 |
G |
A |
8: 41,132,738 (GRCm39) |
G69R |
probably damaging |
Het |
Adgrg7 |
A |
T |
16: 56,553,232 (GRCm39) |
W622R |
probably damaging |
Het |
Ajm1 |
T |
C |
2: 25,469,530 (GRCm39) |
E127G |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,500,679 (GRCm39) |
M931V |
probably benign |
Het |
Ano8 |
C |
T |
8: 71,936,939 (GRCm39) |
V187M |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,555,560 (GRCm39) |
C348S |
probably damaging |
Het |
Apob |
T |
C |
12: 8,064,101 (GRCm39) |
V376A |
possibly damaging |
Het |
Arhgap21 |
A |
T |
2: 20,870,130 (GRCm39) |
D925E |
probably damaging |
Het |
Bmp6 |
T |
A |
13: 38,669,817 (GRCm39) |
V367E |
probably damaging |
Het |
Bmp8b |
A |
T |
4: 123,016,843 (GRCm39) |
Q348L |
probably damaging |
Het |
Ccr1l1 |
T |
C |
9: 123,777,742 (GRCm39) |
K235R |
probably damaging |
Het |
Cd59a |
G |
A |
2: 103,944,431 (GRCm39) |
C93Y |
probably damaging |
Het |
Clstn3 |
C |
T |
6: 124,408,912 (GRCm39) |
|
probably null |
Het |
Col4a2 |
C |
A |
8: 11,456,836 (GRCm39) |
Y236* |
probably null |
Het |
Csn1s2a |
T |
C |
5: 87,929,637 (GRCm39) |
F79L |
probably benign |
Het |
Cyp4a10 |
A |
C |
4: 115,383,005 (GRCm39) |
Y360S |
probably damaging |
Het |
Cyp4a29 |
A |
T |
4: 115,106,867 (GRCm39) |
I175F |
probably benign |
Het |
Dck |
T |
A |
5: 88,920,595 (GRCm39) |
I105N |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,662,850 (GRCm39) |
L1577P |
probably benign |
Het |
Disp2 |
G |
A |
2: 118,622,985 (GRCm39) |
S1239N |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,536,892 (GRCm39) |
M1T |
probably null |
Het |
E130308A19Rik |
T |
A |
4: 59,690,317 (GRCm39) |
C50* |
probably null |
Het |
Elf2 |
A |
T |
3: 51,184,642 (GRCm39) |
D14E |
probably damaging |
Het |
Epm2aip1 |
C |
T |
9: 111,102,262 (GRCm39) |
R412C |
probably benign |
Het |
Foxm1 |
T |
C |
6: 128,346,410 (GRCm39) |
F114L |
probably damaging |
Het |
Glcci1 |
C |
T |
6: 8,582,601 (GRCm39) |
R134* |
probably null |
Het |
Gm57859 |
C |
A |
11: 113,579,805 (GRCm39) |
T400K |
probably benign |
Het |
Gspt1 |
T |
C |
16: 11,040,581 (GRCm39) |
K576E |
probably damaging |
Het |
H2-M10.3 |
T |
C |
17: 36,678,286 (GRCm39) |
K180E |
probably benign |
Het |
Hecw2 |
A |
T |
1: 53,869,911 (GRCm39) |
V1439E |
probably damaging |
Het |
Hr |
T |
C |
14: 70,797,362 (GRCm39) |
S561P |
probably damaging |
Het |
Hunk |
T |
C |
16: 90,293,086 (GRCm39) |
V456A |
probably benign |
Het |
Il1rap |
T |
A |
16: 26,495,685 (GRCm39) |
D97E |
probably damaging |
Het |
Inpp5d |
T |
G |
1: 87,625,245 (GRCm39) |
V474G |
possibly damaging |
Het |
Itsn1 |
T |
A |
16: 91,703,677 (GRCm39) |
L87* |
probably null |
Het |
Izumo3 |
T |
C |
4: 92,035,208 (GRCm39) |
D3G |
possibly damaging |
Het |
Kifc2 |
T |
A |
15: 76,545,511 (GRCm39) |
M1K |
probably null |
Het |
Krt8 |
T |
A |
15: 101,907,256 (GRCm39) |
I276F |
probably damaging |
Het |
Ksr2 |
C |
A |
5: 117,806,392 (GRCm39) |
Q402K |
probably benign |
Het |
Lama2 |
A |
G |
10: 26,882,745 (GRCm39) |
V2606A |
probably benign |
Het |
Met |
A |
G |
6: 17,491,412 (GRCm39) |
H58R |
probably damaging |
Het |
Mier3 |
C |
T |
13: 111,851,643 (GRCm39) |
Q542* |
probably null |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Msl3l2 |
C |
T |
10: 55,991,655 (GRCm39) |
R127C |
probably damaging |
Het |
Naglu |
T |
C |
11: 100,967,814 (GRCm39) |
L588P |
probably benign |
Het |
Nf1 |
T |
C |
11: 79,437,123 (GRCm39) |
L2013P |
probably damaging |
Het |
Nid1 |
A |
G |
13: 13,683,408 (GRCm39) |
Y1162C |
probably damaging |
Het |
Nlrc5 |
G |
T |
8: 95,232,113 (GRCm39) |
R1313L |
probably benign |
Het |
Nup188 |
T |
C |
2: 30,229,596 (GRCm39) |
L1310P |
probably damaging |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Or14a259 |
G |
A |
7: 86,012,952 (GRCm39) |
L198F |
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,839,276 (GRCm39) |
L85P |
probably damaging |
Het |
Or5ae1 |
T |
G |
7: 84,565,491 (GRCm39) |
F168C |
probably damaging |
Het |
Pbk |
T |
A |
14: 66,052,733 (GRCm39) |
L192* |
probably null |
Het |
Pcdhga4 |
T |
C |
18: 37,818,490 (GRCm39) |
I13T |
probably benign |
Het |
Peg10 |
A |
T |
6: 4,754,294 (GRCm39) |
|
probably benign |
Het |
Polq |
T |
A |
16: 36,848,176 (GRCm39) |
V261D |
probably damaging |
Het |
Ppp2r5b |
T |
A |
19: 6,280,540 (GRCm39) |
T313S |
possibly damaging |
Het |
Ptk2 |
A |
T |
15: 73,087,945 (GRCm39) |
|
probably null |
Het |
Ptpn7 |
T |
A |
1: 135,065,618 (GRCm39) |
|
probably null |
Het |
Rab11fip1 |
A |
G |
8: 27,643,111 (GRCm39) |
S563P |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,158,866 (GRCm39) |
C351* |
probably null |
Het |
Slc10a5 |
A |
T |
3: 10,399,859 (GRCm39) |
V267D |
probably damaging |
Het |
Slc37a2 |
T |
A |
9: 37,146,404 (GRCm39) |
M368L |
probably damaging |
Het |
Slc49a4 |
T |
A |
16: 35,555,945 (GRCm39) |
T172S |
probably benign |
Het |
Slc6a20b |
T |
A |
9: 123,425,113 (GRCm39) |
T585S |
probably benign |
Het |
Srcap |
T |
C |
7: 127,156,782 (GRCm39) |
|
probably null |
Het |
Tbx18 |
T |
C |
9: 87,609,502 (GRCm39) |
M178V |
possibly damaging |
Het |
Tmprss11b |
C |
A |
5: 86,811,418 (GRCm39) |
C172F |
probably damaging |
Het |
Traf5 |
T |
C |
1: 191,751,198 (GRCm39) |
Q91R |
probably benign |
Het |
Trappc8 |
A |
T |
18: 20,958,122 (GRCm39) |
Y1248N |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,966,747 (GRCm39) |
L539S |
possibly damaging |
Het |
Tyrp1 |
T |
A |
4: 80,764,833 (GRCm39) |
Y3* |
probably null |
Het |
Ubr7 |
A |
T |
12: 102,727,761 (GRCm39) |
K94N |
probably damaging |
Het |
Ugt2a1 |
C |
A |
5: 87,633,894 (GRCm39) |
|
probably null |
Het |
Unc50 |
T |
A |
1: 37,471,710 (GRCm39) |
I120K |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,912,836 (GRCm39) |
V29A |
probably damaging |
Het |
Usp9y |
A |
G |
Y: 1,317,002 (GRCm39) |
I1849T |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,898,203 (GRCm39) |
V406E |
probably damaging |
Het |
Vmn2r4 |
G |
A |
3: 64,317,484 (GRCm39) |
R85W |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,346,750 (GRCm39) |
D2997G |
probably benign |
Het |
Zc2hc1c |
A |
T |
12: 85,336,982 (GRCm39) |
E213V |
probably damaging |
Het |
Zfp420 |
C |
T |
7: 29,573,759 (GRCm39) |
|
probably benign |
Het |
Zfp641 |
C |
T |
15: 98,191,585 (GRCm39) |
E34K |
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 |
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'- ACAAAGTTTAGGAGCAGTTTGC -3'
(R):5'- CTGCATTGCTGGCCTAAAGTG -3'
Sequencing Primer
(F):5'- CAGTTTGCAGATTAGTTTCTGTTG -3'
(R):5'- CCTAAAGTGGGTATTTGTGGACAAG -3'
|
Posted On |
2016-03-01 |