Incidental Mutation 'IGL02754:Nrg1'
| ID |
306374 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 32316391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000208617]
[ENSMUST00000208931]
[ENSMUST00000208819]
[ENSMUST00000209107]
[ENSMUST00000208598]
[ENSMUST00000208497]
[ENSMUST00000209022]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073884
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
| 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: ENSMUST00000207678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208205
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
| Coding Region Coverage |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AW551984 |
T |
A |
9: 39,507,922 (GRCm39) |
R405* |
probably null |
Het |
| AW551984 |
C |
T |
9: 39,504,624 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,197,481 (GRCm39) |
E968G |
possibly damaging |
Het |
| Ccdc68 |
T |
C |
18: 70,076,935 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
A |
19: 4,889,889 (GRCm39) |
L127H |
probably damaging |
Het |
| Cdk5r1 |
G |
T |
11: 80,368,569 (GRCm39) |
A79S |
probably benign |
Het |
| Cdyl |
A |
T |
13: 35,867,725 (GRCm39) |
|
probably benign |
Het |
| Cfdp1 |
A |
G |
8: 112,580,766 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,111,339 (GRCm39) |
I62F |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,481,706 (GRCm39) |
I789K |
probably benign |
Het |
| Cobl |
T |
C |
11: 12,204,371 (GRCm39) |
K695R |
probably damaging |
Het |
| Cobl |
C |
A |
11: 12,204,370 (GRCm39) |
K752N |
probably damaging |
Het |
| Cstdc5 |
G |
A |
16: 36,179,899 (GRCm39) |
P73S |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,165,915 (GRCm39) |
|
probably null |
Het |
| Ece2 |
A |
T |
16: 20,451,398 (GRCm39) |
I197F |
probably damaging |
Het |
| Eif2b5 |
T |
G |
16: 20,321,536 (GRCm39) |
V363G |
possibly damaging |
Het |
| Gca |
T |
C |
2: 62,502,702 (GRCm39) |
S37P |
probably benign |
Het |
| Ghsr |
A |
C |
3: 27,426,645 (GRCm39) |
I234L |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,808,723 (GRCm39) |
I158F |
possibly damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,617,747 (GRCm39) |
D178E |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,747,246 (GRCm39) |
E461G |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,547,057 (GRCm39) |
N531I |
possibly damaging |
Het |
| Insl6 |
G |
T |
19: 29,302,529 (GRCm39) |
Q63K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,691,952 (GRCm39) |
|
probably null |
Het |
| Lvrn |
C |
T |
18: 47,023,971 (GRCm39) |
Q773* |
probably null |
Het |
| Mterf1b |
T |
C |
5: 4,246,478 (GRCm39) |
F40L |
possibly damaging |
Het |
| Or10ak13 |
T |
A |
4: 118,639,117 (GRCm39) |
I222F |
possibly damaging |
Het |
| Or1n1 |
T |
A |
2: 36,750,232 (GRCm39) |
I43F |
probably damaging |
Het |
| Or5p79 |
T |
C |
7: 108,221,880 (GRCm39) |
I287T |
possibly damaging |
Het |
| Pax5 |
C |
T |
4: 44,570,059 (GRCm39) |
V319I |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,956,307 (GRCm39) |
T321S |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,212,676 (GRCm39) |
E660G |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,943,428 (GRCm39) |
M1T |
probably null |
Het |
| Prickle1 |
C |
T |
15: 93,399,034 (GRCm39) |
S598N |
possibly damaging |
Het |
| Prtn3 |
A |
G |
10: 79,716,932 (GRCm39) |
Q99R |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,592,883 (GRCm39) |
V89A |
probably damaging |
Het |
| Ret |
T |
C |
6: 118,153,213 (GRCm39) |
Y485C |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,379,124 (GRCm39) |
F980I |
possibly damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,140,279 (GRCm39) |
Y228C |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,435,028 (GRCm39) |
C779Y |
possibly damaging |
Het |
| Tfdp2 |
T |
G |
9: 96,199,592 (GRCm39) |
S285A |
probably benign |
Het |
| Thsd4 |
T |
A |
9: 59,896,380 (GRCm39) |
|
probably benign |
Het |
| Tmem106a |
A |
C |
11: 101,481,219 (GRCm39) |
E242D |
probably benign |
Het |
| Ttc22 |
T |
C |
4: 106,495,669 (GRCm39) |
V341A |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,138,095 (GRCm39) |
S1151T |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
| Vmn1r206 |
A |
T |
13: 22,805,060 (GRCm39) |
L49* |
probably null |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,887 (GRCm39) |
F21Y |
probably benign |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,886 (GRCm39) |
F21L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,134 (GRCm39) |
C241* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 127,003,764 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation