Incidental Mutation 'R6010:Nrg1'
ID |
479711 |
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 |
044187-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6010 (G1)
|
Quality Score |
198.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 32308600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 483
(T483M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000209107]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000208819]
[ENSMUST00000208497]
|
AlphaFold |
A0A140LHZ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073884
AA Change: T520M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073546 Gene: ENSMUSG00000062991 AA Change: T520M
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: T457M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207470
AA Change: T465M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207678
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208205
AA Change: T460M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208488
AA Change: T483M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209107
AA Change: T472M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
|
Meta Mutation Damage Score |
0.1042 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
100% (65/65) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7a |
A |
G |
4: 56,743,870 (GRCm39) |
I132M |
possibly damaging |
Het |
Agap2 |
A |
T |
10: 126,926,779 (GRCm39) |
I939F |
probably damaging |
Het |
Ahctf1 |
A |
G |
1: 179,623,378 (GRCm39) |
V80A |
possibly damaging |
Het |
Atxn3 |
T |
C |
12: 101,914,285 (GRCm39) |
D67G |
probably damaging |
Het |
Avl9 |
G |
A |
6: 56,730,375 (GRCm39) |
V573M |
possibly damaging |
Het |
Baz1b |
G |
A |
5: 135,246,305 (GRCm39) |
E585K |
possibly damaging |
Het |
Brms1l |
T |
C |
12: 55,914,985 (GRCm39) |
F298S |
possibly damaging |
Het |
Camk2d |
G |
A |
3: 126,591,363 (GRCm39) |
V278I |
possibly damaging |
Het |
Car10 |
A |
G |
11: 93,490,149 (GRCm39) |
I297V |
possibly damaging |
Het |
Cfap65 |
C |
T |
1: 74,962,190 (GRCm39) |
C677Y |
probably damaging |
Het |
Cfap74 |
T |
A |
4: 155,538,495 (GRCm39) |
D872E |
possibly damaging |
Het |
Cgrrf1 |
A |
C |
14: 47,091,158 (GRCm39) |
Q227H |
probably damaging |
Het |
Chil4 |
A |
G |
3: 106,121,711 (GRCm39) |
I46T |
probably damaging |
Het |
Chpf2 |
A |
T |
5: 24,796,917 (GRCm39) |
H621L |
probably damaging |
Het |
Cluap1 |
C |
T |
16: 3,755,437 (GRCm39) |
R351W |
possibly damaging |
Het |
Cnot6 |
A |
T |
11: 49,574,066 (GRCm39) |
Y201* |
probably null |
Het |
Col15a1 |
T |
C |
4: 47,245,630 (GRCm39) |
V127A |
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,701,219 (GRCm39) |
V2566I |
unknown |
Het |
Cope |
T |
A |
8: 70,761,162 (GRCm39) |
M88K |
probably damaging |
Het |
Cops4 |
A |
G |
5: 100,691,776 (GRCm39) |
I358M |
possibly damaging |
Het |
Coro7 |
T |
C |
16: 4,487,820 (GRCm39) |
E130G |
possibly damaging |
Het |
Csrp3 |
A |
G |
7: 48,485,213 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
C |
17: 32,701,160 (GRCm39) |
F217L |
probably damaging |
Het |
Dmac1 |
A |
G |
4: 75,196,473 (GRCm39) |
S6P |
unknown |
Het |
Drd4 |
A |
T |
7: 140,874,709 (GRCm39) |
I367F |
probably damaging |
Het |
Efcc1 |
T |
A |
6: 87,730,711 (GRCm39) |
|
probably null |
Het |
Emid1 |
A |
T |
11: 5,085,389 (GRCm39) |
M119K |
possibly damaging |
Het |
Fbn2 |
C |
T |
18: 58,202,596 (GRCm39) |
D1237N |
probably benign |
Het |
Fbxl18 |
C |
A |
5: 142,858,153 (GRCm39) |
R761L |
probably damaging |
Het |
Gbp10 |
A |
C |
5: 105,372,205 (GRCm39) |
L185R |
probably damaging |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Gucd1 |
G |
T |
10: 75,256,600 (GRCm39) |
|
probably benign |
Het |
Helb |
G |
A |
10: 119,941,788 (GRCm39) |
T300M |
probably damaging |
Het |
Ifna11 |
A |
T |
4: 88,738,278 (GRCm39) |
H28L |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,830,950 (GRCm39) |
N723I |
probably benign |
Het |
Kcnb2 |
C |
T |
1: 15,780,790 (GRCm39) |
S554F |
possibly damaging |
Het |
Med1 |
A |
C |
11: 98,049,188 (GRCm39) |
V536G |
probably damaging |
Het |
Nanog |
A |
C |
6: 122,690,255 (GRCm39) |
N195T |
probably benign |
Het |
Neu1 |
C |
T |
17: 35,151,031 (GRCm39) |
S94F |
probably damaging |
Het |
Nop58 |
T |
A |
1: 59,740,071 (GRCm39) |
S154R |
probably damaging |
Het |
Npl |
A |
T |
1: 153,388,314 (GRCm39) |
L239* |
probably null |
Het |
Nup98 |
G |
T |
7: 101,829,636 (GRCm39) |
F391L |
probably damaging |
Het |
Or4c122 |
A |
T |
2: 89,079,087 (GRCm39) |
I305K |
probably benign |
Het |
Or5ar1 |
T |
C |
2: 85,671,905 (GRCm39) |
I77V |
probably benign |
Het |
Or5d47 |
A |
T |
2: 87,804,886 (GRCm39) |
V41E |
probably damaging |
Het |
Or5g26 |
T |
C |
2: 85,494,374 (GRCm39) |
I135V |
probably benign |
Het |
Pacsin2 |
A |
G |
15: 83,266,020 (GRCm39) |
V59A |
possibly damaging |
Het |
Pcsk9 |
C |
T |
4: 106,311,469 (GRCm39) |
R254H |
possibly damaging |
Het |
Pierce2 |
A |
T |
9: 72,887,488 (GRCm39) |
|
probably null |
Het |
Psme2 |
C |
A |
14: 55,824,980 (GRCm39) |
|
probably null |
Het |
Ptprc |
T |
A |
1: 138,028,794 (GRCm39) |
H468L |
probably benign |
Het |
Rbp3 |
T |
A |
14: 33,676,604 (GRCm39) |
I184N |
probably damaging |
Het |
Serpinb1c |
A |
G |
13: 33,066,042 (GRCm39) |
L301P |
probably damaging |
Het |
Smim6 |
G |
T |
11: 115,804,219 (GRCm39) |
G2V |
probably damaging |
Het |
Snrpb2 |
A |
G |
2: 142,912,815 (GRCm39) |
D146G |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,115,832 (GRCm39) |
S954C |
possibly damaging |
Het |
Telo2 |
G |
T |
17: 25,323,852 (GRCm39) |
T568N |
possibly damaging |
Het |
Tpp2 |
T |
C |
1: 43,990,373 (GRCm39) |
|
probably null |
Het |
Upf1 |
A |
G |
8: 70,789,675 (GRCm39) |
V720A |
probably damaging |
Het |
Vmn1r81 |
T |
C |
7: 11,994,349 (GRCm39) |
I86M |
possibly damaging |
Het |
Vps8 |
T |
A |
16: 21,363,955 (GRCm39) |
|
probably benign |
Het |
Wdr70 |
T |
C |
15: 7,916,900 (GRCm39) |
|
probably null |
Het |
Zfp385c |
A |
T |
11: 100,548,363 (GRCm39) |
S30T |
probably benign |
Het |
Zfp607a |
T |
A |
7: 27,577,254 (GRCm39) |
L108* |
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 |
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'- CATACTCCTGGGTCGTTTCG -3'
(R):5'- TGACTATATCCCGTGGTGAACTC -3'
Sequencing Primer
(F):5'- CACTATCCTCAATGGGCTAGG -3'
(R):5'- TGGTGAACTCCGCCCCTAC -3'
|
Posted On |
2017-06-26 |