Incidental Mutation 'R4569:Nrg1'
ID |
342006 |
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 |
041793-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4569 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32407802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 144
(V144I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208497]
[ENSMUST00000208598]
[ENSMUST00000208931]
[ENSMUST00000208488]
[ENSMUST00000208819]
[ENSMUST00000209022]
[ENSMUST00000208617]
[ENSMUST00000209107]
|
AlphaFold |
A0A140LHZ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073884
AA Change: V144I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000073546 Gene: ENSMUSG00000062991 AA Change: V144I
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 |
probably benign
Transcript: ENSMUST00000208497
AA Change: V144I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208206
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208931
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208820
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
|
Meta Mutation Damage Score |
0.0608 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
99% (87/88) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
A |
G |
7: 41,275,262 (GRCm39) |
T322A |
probably benign |
Het |
Abhd13 |
C |
T |
8: 10,038,071 (GRCm39) |
P223S |
possibly damaging |
Het |
Adgra3 |
T |
A |
5: 50,117,905 (GRCm39) |
L1214F |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd13a |
C |
A |
5: 114,927,373 (GRCm39) |
P120Q |
probably damaging |
Het |
Apbb1ip |
A |
G |
2: 22,739,556 (GRCm39) |
Y277C |
probably damaging |
Het |
Arfgap1 |
T |
C |
2: 180,618,166 (GRCm39) |
|
probably benign |
Het |
Arid2 |
T |
A |
15: 96,290,343 (GRCm39) |
V1746D |
probably damaging |
Het |
C1qtnf7 |
T |
A |
5: 43,766,549 (GRCm39) |
N49K |
possibly damaging |
Het |
Cacnb2 |
A |
T |
2: 14,990,811 (GRCm39) |
D587V |
possibly damaging |
Het |
Ccar2 |
A |
T |
14: 70,389,359 (GRCm39) |
|
probably null |
Het |
Cdk2ap2 |
T |
C |
19: 4,147,879 (GRCm39) |
F49L |
possibly damaging |
Het |
Cdon |
A |
T |
9: 35,388,265 (GRCm39) |
I747F |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,100,607 (GRCm39) |
P27S |
probably benign |
Het |
Cyp4v3 |
T |
A |
8: 45,760,029 (GRCm39) |
R508W |
probably damaging |
Het |
Dclk1 |
T |
C |
3: 55,154,831 (GRCm39) |
L87P |
probably damaging |
Het |
Ddx41 |
G |
A |
13: 55,683,834 (GRCm39) |
R66C |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 49,985,427 (GRCm39) |
Y225H |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,450,818 (GRCm39) |
P3871S |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,306,373 (GRCm39) |
|
probably null |
Het |
Dph1 |
A |
T |
11: 75,069,721 (GRCm39) |
|
probably benign |
Het |
Egln2 |
A |
G |
7: 26,859,008 (GRCm39) |
I382T |
probably damaging |
Het |
Enpp3 |
A |
G |
10: 24,652,780 (GRCm39) |
Y726H |
probably damaging |
Het |
Fbxo32 |
A |
G |
15: 58,044,873 (GRCm39) |
F353L |
probably damaging |
Het |
Fchsd2 |
G |
A |
7: 100,926,809 (GRCm39) |
G657D |
possibly damaging |
Het |
Fer1l4 |
T |
A |
2: 155,878,559 (GRCm39) |
E44V |
possibly damaging |
Het |
Gjb2 |
C |
T |
14: 57,337,762 (GRCm39) |
V149I |
probably benign |
Het |
Glipr1l1 |
A |
G |
10: 111,898,317 (GRCm39) |
M141V |
probably benign |
Het |
Gnaq |
T |
C |
19: 16,312,370 (GRCm39) |
S211P |
probably damaging |
Het |
Gnl1 |
A |
G |
17: 36,299,142 (GRCm39) |
R527G |
probably benign |
Het |
Gns |
A |
G |
10: 121,217,083 (GRCm39) |
Q286R |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,817,397 (GRCm39) |
|
probably benign |
Het |
Gpr107 |
T |
C |
2: 31,097,677 (GRCm39) |
|
probably benign |
Het |
Gprasp1 |
C |
T |
X: 134,703,592 (GRCm39) |
R1262C |
probably damaging |
Het |
Gtf2ird1 |
A |
T |
5: 134,439,857 (GRCm39) |
D124E |
probably damaging |
Het |
Hbp1 |
T |
A |
12: 32,000,231 (GRCm39) |
|
probably benign |
Het |
Hrnr |
C |
T |
3: 93,230,875 (GRCm39) |
T371I |
unknown |
Het |
Ints2 |
A |
G |
11: 86,147,024 (GRCm39) |
C41R |
probably damaging |
Het |
Jhy |
A |
G |
9: 40,822,389 (GRCm39) |
I583T |
probably benign |
Het |
Jph4 |
G |
T |
14: 55,352,503 (GRCm39) |
R77S |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klhl12 |
A |
T |
1: 134,413,507 (GRCm39) |
I331F |
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,039,698 (GRCm39) |
R30Q |
probably damaging |
Het |
Mgst1 |
C |
A |
6: 138,133,213 (GRCm39) |
T176K |
probably damaging |
Het |
Negr1 |
C |
A |
3: 156,914,013 (GRCm39) |
|
probably benign |
Het |
Ntmt2 |
T |
A |
1: 163,530,586 (GRCm39) |
*284C |
probably null |
Het |
Or1ad8 |
T |
C |
11: 50,898,381 (GRCm39) |
I194T |
possibly damaging |
Het |
Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
Pex11b |
A |
T |
3: 96,551,330 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,994,593 (GRCm39) |
|
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,174,044 (GRCm39) |
R359Q |
possibly damaging |
Het |
Prickle2 |
T |
C |
6: 92,399,323 (GRCm39) |
I185V |
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,377,473 (GRCm39) |
P562S |
unknown |
Het |
Rdx |
A |
G |
9: 51,980,141 (GRCm39) |
I245V |
probably benign |
Het |
Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
Rhob |
T |
G |
12: 8,549,373 (GRCm39) |
D87A |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
Sbf2 |
A |
G |
7: 109,948,060 (GRCm39) |
|
probably null |
Het |
Sipa1l3 |
G |
T |
7: 29,025,287 (GRCm39) |
P619Q |
probably damaging |
Het |
Snupn |
A |
G |
9: 56,885,346 (GRCm39) |
E217G |
probably benign |
Het |
Ston2 |
T |
A |
12: 91,606,496 (GRCm39) |
*896C |
probably null |
Het |
Stradb |
C |
T |
1: 59,019,117 (GRCm39) |
R13* |
probably null |
Het |
Tbx21 |
G |
A |
11: 97,005,581 (GRCm39) |
A128V |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,062,197 (GRCm39) |
C2552S |
probably benign |
Het |
Tgif1 |
A |
T |
17: 71,151,912 (GRCm39) |
V233E |
possibly damaging |
Het |
Trim31 |
A |
T |
17: 37,209,633 (GRCm39) |
I130L |
probably benign |
Het |
Trrap |
C |
T |
5: 144,728,928 (GRCm39) |
T614I |
probably benign |
Het |
Ttn |
C |
A |
2: 76,766,758 (GRCm39) |
V3107F |
probably damaging |
Het |
Txnrd2 |
T |
G |
16: 18,274,956 (GRCm39) |
D322E |
probably benign |
Het |
Unc45b |
T |
A |
11: 82,827,315 (GRCm39) |
|
probably null |
Het |
Usp43 |
C |
T |
11: 67,789,788 (GRCm39) |
C252Y |
probably damaging |
Het |
Usp43 |
A |
T |
11: 67,766,178 (GRCm39) |
L744* |
probably null |
Het |
Vmn2r71 |
A |
C |
7: 85,273,402 (GRCm39) |
K739Q |
possibly damaging |
Het |
Vps16 |
C |
T |
2: 130,284,124 (GRCm39) |
T653M |
probably benign |
Het |
Wdr83os |
T |
A |
8: 85,808,495 (GRCm39) |
S82R |
probably damaging |
Het |
Xpo6 |
T |
A |
7: 125,727,427 (GRCm39) |
L526F |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,466,894 (GRCm39) |
V2351I |
probably benign |
Het |
Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly 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 |
|
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'- CCTGACTTGGGTGTTCTCAC -3'
(R):5'- ACTCCGAGAAGATCTGCATTG -3'
Sequencing Primer
(F):5'- CCTCAGGGGTCCGAGCTG -3'
(R):5'- CGAGAAGATCTGCATTGTTCCC -3'
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Posted On |
2015-09-24 |