Incidental Mutation 'R7176:Nrg1'
| ID |
558623 |
| 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 |
045267-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7176 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 32458064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 84
(Q84*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000208819]
[ENSMUST00000209022]
[ENSMUST00000209107]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000207417
AA Change: Q84*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207470
AA Change: Q84*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208205
AA Change: Q84*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208488
AA Change: Q84*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208598
AA Change: Q84*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208617
AA Change: Q84*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208819
AA Change: Q84*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209022
AA Change: Q91*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209107
AA Change: Q91*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
T |
17: 46,635,203 (GRCm39) |
H267N |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,539,720 (GRCm39) |
D695G |
probably benign |
Het |
| Adam21 |
C |
T |
12: 81,607,022 (GRCm39) |
D247N |
possibly damaging |
Het |
| Adnp |
T |
C |
2: 168,024,578 (GRCm39) |
N906D |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,416,594 (GRCm39) |
H1079Q |
probably damaging |
Het |
| Aqp3 |
T |
A |
4: 41,095,202 (GRCm39) |
N60Y |
probably damaging |
Het |
| Art4 |
T |
G |
6: 136,834,166 (GRCm39) |
T26P |
probably benign |
Het |
| Arvcf |
T |
C |
16: 18,218,477 (GRCm39) |
L553P |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,243,908 (GRCm39) |
I1487N |
probably damaging |
Het |
| Capn3 |
A |
T |
2: 120,334,973 (GRCm39) |
Y820F |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,401,941 (GRCm39) |
T39A |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,099,506 (GRCm39) |
S531T |
probably benign |
Het |
| Ccdc18 |
T |
A |
5: 108,315,972 (GRCm39) |
C481S |
probably benign |
Het |
| Ccnf |
A |
G |
17: 24,468,376 (GRCm39) |
I7T |
possibly damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cdkl4 |
A |
T |
17: 80,851,221 (GRCm39) |
Y160* |
probably null |
Het |
| Celsr3 |
C |
T |
9: 108,722,961 (GRCm39) |
P2783S |
probably benign |
Het |
| Cisd3 |
A |
T |
11: 97,576,959 (GRCm39) |
D11V |
probably benign |
Het |
| Daxx |
A |
T |
17: 34,132,292 (GRCm39) |
H512L |
unknown |
Het |
| Dip2b |
A |
G |
15: 100,067,199 (GRCm39) |
H567R |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,469,969 (GRCm39) |
A18E |
probably benign |
Het |
| Eif3d |
A |
T |
15: 77,847,434 (GRCm39) |
V268D |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,004,162 (GRCm39) |
M625V |
unknown |
Het |
| Foxn1 |
T |
C |
11: 78,251,693 (GRCm39) |
R513G |
possibly damaging |
Het |
| Gemin5 |
C |
T |
11: 58,056,828 (GRCm39) |
V134I |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,433 (GRCm39) |
R161G |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,772,525 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
T |
C |
1: 40,485,766 (GRCm39) |
Y306H |
probably damaging |
Het |
| Kbtbd7 |
A |
T |
14: 79,665,194 (GRCm39) |
E342V |
possibly damaging |
Het |
| Kyat3 |
A |
T |
3: 142,443,600 (GRCm39) |
K404N |
possibly damaging |
Het |
| Lins1 |
T |
C |
7: 66,363,553 (GRCm39) |
W483R |
probably benign |
Het |
| Lipo2 |
A |
G |
19: 33,723,207 (GRCm39) |
I194T |
possibly damaging |
Het |
| Mcm8 |
G |
T |
2: 132,661,992 (GRCm39) |
A137S |
probably benign |
Het |
| Mdm1 |
C |
A |
10: 117,978,770 (GRCm39) |
Q12K |
probably damaging |
Het |
| Mrgprb5 |
C |
A |
7: 47,818,059 (GRCm39) |
L225F |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,033,690 (GRCm39) |
H1068L |
|
Het |
| Ngef |
A |
T |
1: 87,408,417 (GRCm39) |
V550E |
possibly damaging |
Het |
| Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
| Ocln |
C |
A |
13: 100,651,590 (GRCm39) |
G327C |
probably damaging |
Het |
| Ocln |
A |
C |
13: 100,651,591 (GRCm39) |
N326K |
probably benign |
Het |
| Or10ag55-ps1 |
C |
T |
2: 87,115,378 (GRCm39) |
A248V |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,614,772 (GRCm39) |
D1960G |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,987,331 (GRCm39) |
D530G |
possibly damaging |
Het |
| Plod1 |
A |
T |
4: 147,997,744 (GRCm39) |
M655K |
probably benign |
Het |
| Ppp4r3b |
A |
G |
11: 29,148,904 (GRCm39) |
N449D |
probably damaging |
Het |
| Ppp6r3 |
G |
T |
19: 3,521,989 (GRCm39) |
T563K |
probably damaging |
Het |
| Prepl |
T |
A |
17: 85,376,454 (GRCm39) |
L533F |
probably benign |
Het |
| Rbl1 |
G |
A |
2: 157,030,245 (GRCm39) |
R421W |
probably damaging |
Het |
| Rrp15 |
G |
A |
1: 186,453,730 (GRCm39) |
S239L |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,530,944 (GRCm39) |
S815P |
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,506,632 (GRCm39) |
T1419I |
probably damaging |
Het |
| Setdb1 |
A |
G |
3: 95,244,458 (GRCm39) |
|
probably null |
Het |
| Shpk |
A |
G |
11: 73,113,814 (GRCm39) |
H409R |
probably benign |
Het |
| Slamf6 |
A |
C |
1: 171,761,858 (GRCm39) |
N93T |
probably benign |
Het |
| Slc27a4 |
A |
G |
2: 29,701,238 (GRCm39) |
N343S |
probably benign |
Het |
| Slc35g1 |
T |
A |
19: 38,391,771 (GRCm39) |
V351E |
probably damaging |
Het |
| Smcr8 |
A |
T |
11: 60,669,772 (GRCm39) |
I307F |
probably damaging |
Het |
| Spats2l |
T |
C |
1: 57,977,077 (GRCm39) |
I305T |
possibly damaging |
Het |
| Speer4c1 |
T |
C |
5: 15,916,536 (GRCm39) |
T144A |
probably benign |
Het |
| Tbl3 |
G |
A |
17: 24,919,732 (GRCm39) |
T774I |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,269,925 (GRCm39) |
H1724R |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,837,055 (GRCm39) |
S2830P |
probably benign |
Het |
| Vmn2r27 |
T |
A |
6: 124,168,995 (GRCm39) |
I712F |
probably benign |
Het |
| Wdr59 |
T |
G |
8: 112,219,388 (GRCm39) |
Q223P |
|
Het |
| Zfp28 |
T |
A |
7: 6,386,456 (GRCm39) |
C22S |
possibly damaging |
Het |
| Zfp536 |
T |
G |
7: 37,180,276 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AAACTCCCAAGTTCACTTCTATCTG -3'
(R):5'- TTGAAAGGCCTGGTGTTCAC -3'
Sequencing Primer
(F):5'- CCAAGTTCACTTCTATCTGATATGAC -3'
(R):5'- AAAGGCCTGGTGTTCACAGTTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation