Incidental Mutation 'R4760:Nrg1'
| ID |
356808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrg1
|
| Ensembl Gene |
ENSMUSG00000062991 |
| Gene Name |
neuregulin 1 |
| Synonyms |
D230005F13Rik, Hgl, GGF, HRGalpha, ARIA, 6030402G23Rik, HRG, GGFII, HGL, NDF, SMDF, heregulin |
| MMRRC Submission |
041974-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4760 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
31814551-32884029 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 31918200 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 2
(E2*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000208497]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000208819]
[ENSMUST00000209107]
[ENSMUST00000209022]
[ENSMUST00000208931]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073884
AA Change: E2*
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: E2*
| 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: ENSMUST00000208335
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208497
AA Change: E2*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208820
|
| Meta Mutation Damage Score |
0.9634 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
98% (90/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
A |
G |
6: 60,402,101 (GRCm38) |
|
noncoding transcript |
Het |
| Abcc2 |
A |
T |
19: 43,810,481 (GRCm38) |
Y512F |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,571,463 (GRCm38) |
I51N |
probably damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,563,523 (GRCm38) |
Y332C |
probably damaging |
Het |
| Ambn |
C |
T |
5: 88,467,707 (GRCm38) |
L317F |
probably damaging |
Het |
| Amn1 |
T |
C |
6: 149,185,113 (GRCm38) |
Y17C |
probably benign |
Het |
| Apoa5 |
T |
C |
9: 46,270,295 (GRCm38) |
V223A |
probably damaging |
Het |
| Best3 |
A |
T |
10: 117,024,794 (GRCm38) |
H653L |
probably benign |
Het |
| Btnl2 |
C |
A |
17: 34,363,195 (GRCm38) |
S245Y |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,362,056 (GRCm38) |
L116P |
probably damaging |
Het |
| Catsperg2 |
T |
A |
7: 29,705,635 (GRCm38) |
D698V |
probably damaging |
Het |
| Cd33 |
T |
C |
7: 43,529,495 (GRCm38) |
T307A |
probably benign |
Het |
| Cdk8 |
C |
T |
5: 146,292,666 (GRCm38) |
S230L |
probably benign |
Het |
| Cfap69 |
C |
T |
5: 5,646,939 (GRCm38) |
C119Y |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,453,737 (GRCm38) |
N122S |
probably benign |
Het |
| Col20a1 |
A |
T |
2: 180,984,403 (GRCm38) |
|
probably benign |
Het |
| Cyp2j9 |
A |
T |
4: 96,568,791 (GRCm38) |
L481Q |
probably damaging |
Het |
| Dab1 |
A |
C |
4: 104,732,145 (GRCm38) |
S550R |
probably damaging |
Het |
| Dlgap2 |
A |
C |
8: 14,773,380 (GRCm38) |
Q533P |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 138,084,318 (GRCm38) |
Q31L |
possibly damaging |
Het |
| Ets2 |
G |
A |
16: 95,719,043 (GRCm38) |
V438M |
probably damaging |
Het |
| Eva1c |
G |
A |
16: 90,904,250 (GRCm38) |
D258N |
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,745,886 (GRCm38) |
H477R |
probably benign |
Het |
| Fga |
T |
G |
3: 83,031,514 (GRCm38) |
S399A |
probably benign |
Het |
| Fmo4 |
T |
A |
1: 162,809,827 (GRCm38) |
E32V |
probably damaging |
Het |
| Gm7204 |
T |
A |
16: 48,218,688 (GRCm38) |
|
noncoding transcript |
Het |
| Gpi-ps |
G |
A |
8: 5,640,473 (GRCm38) |
|
noncoding transcript |
Het |
| Hhipl1 |
A |
G |
12: 108,320,077 (GRCm38) |
I548V |
probably damaging |
Het |
| Hsfy2 |
T |
C |
1: 56,637,190 (GRCm38) |
T63A |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,703,465 (GRCm38) |
V1254A |
possibly damaging |
Het |
| Ighv8-4 |
A |
T |
12: 115,024,047 (GRCm38) |
D110E |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,791,462 (GRCm38) |
S101P |
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,050,367 (GRCm38) |
R88S |
possibly damaging |
Het |
| Ipo5 |
T |
C |
14: 120,941,642 (GRCm38) |
V779A |
probably benign |
Het |
| Itpr1 |
C |
T |
6: 108,349,632 (GRCm38) |
T105I |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,198,487 (GRCm38) |
M670V |
probably damaging |
Het |
| Kdm8 |
T |
A |
7: 125,455,259 (GRCm38) |
|
probably null |
Het |
| Kics2 |
T |
C |
10: 121,740,007 (GRCm38) |
V11A |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,077,242 (GRCm38) |
I281V |
probably benign |
Het |
| Lins1 |
T |
G |
7: 66,714,687 (GRCm38) |
|
probably benign |
Het |
| Map4k5 |
T |
A |
12: 69,824,598 (GRCm38) |
I517L |
possibly damaging |
Het |
| Marchf2 |
G |
T |
17: 33,709,916 (GRCm38) |
T2K |
probably damaging |
Het |
| Mlkl |
C |
G |
8: 111,319,716 (GRCm38) |
|
probably null |
Het |
| Mllt1 |
A |
G |
17: 56,902,630 (GRCm38) |
M160T |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 95,368,196 (GRCm38) |
A233T |
possibly damaging |
Het |
| Moxd2 |
C |
A |
6: 40,891,603 (GRCm38) |
T23N |
probably benign |
Het |
| Nop53 |
C |
A |
7: 15,942,887 (GRCm38) |
K100N |
probably benign |
Het |
| Or52u1 |
T |
A |
7: 104,588,489 (GRCm38) |
H228Q |
probably benign |
Het |
| Pank4 |
A |
G |
4: 154,974,634 (GRCm38) |
D408G |
possibly damaging |
Het |
| Pcdhb10 |
T |
C |
18: 37,411,942 (GRCm38) |
W24R |
probably benign |
Het |
| Pcm1 |
C |
T |
8: 41,287,738 (GRCm38) |
T968I |
probably damaging |
Het |
| Pkib |
G |
T |
10: 57,708,150 (GRCm38) |
M19I |
probably benign |
Het |
| Ppy |
A |
G |
11: 102,100,519 (GRCm38) |
|
probably null |
Het |
| Pramel21 |
G |
A |
4: 143,617,231 (GRCm38) |
R367K |
probably benign |
Het |
| Prdx3 |
A |
C |
19: 60,873,183 (GRCm38) |
C39W |
possibly damaging |
Het |
| Qrfpr |
T |
G |
3: 36,221,924 (GRCm38) |
N106H |
probably benign |
Het |
| Rai14 |
G |
A |
15: 10,575,690 (GRCm38) |
T394M |
possibly damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,346,749 (GRCm38) |
L1371Q |
probably benign |
Het |
| Rbm12 |
A |
G |
2: 156,097,128 (GRCm38) |
L408P |
probably damaging |
Het |
| Rdx |
T |
C |
9: 52,065,874 (GRCm38) |
I141T |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,708,001 (GRCm38) |
V11E |
possibly damaging |
Het |
| Relch |
T |
A |
1: 105,721,305 (GRCm38) |
M723K |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,750,427 (GRCm38) |
S936P |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,051,790 (GRCm38) |
M403T |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 (GRCm38) |
V1151F |
probably damaging |
Het |
| Slc35g2 |
T |
G |
9: 100,553,496 (GRCm38) |
I41L |
probably benign |
Het |
| Slc39a12 |
G |
A |
2: 14,400,323 (GRCm38) |
S242N |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,761,916 (GRCm38) |
D535E |
probably damaging |
Het |
| Spata31d1a |
G |
T |
13: 59,701,645 (GRCm38) |
P890T |
probably damaging |
Het |
| Sync |
A |
G |
4: 129,293,439 (GRCm38) |
Q88R |
probably benign |
Het |
| Tdrp |
A |
G |
8: 13,974,527 (GRCm38) |
|
probably benign |
Het |
| Tg |
G |
T |
15: 66,693,319 (GRCm38) |
C1170F |
probably damaging |
Het |
| Tnks |
A |
T |
8: 34,851,783 (GRCm38) |
D781E |
probably benign |
Het |
| Tnp2 |
T |
A |
16: 10,788,343 (GRCm38) |
T87S |
possibly damaging |
Het |
| Tpp2 |
T |
C |
1: 43,971,715 (GRCm38) |
V554A |
probably benign |
Het |
| Traf3ip2 |
T |
C |
10: 39,645,739 (GRCm38) |
I431T |
probably damaging |
Het |
| Trav9d-4 |
A |
T |
14: 52,983,801 (GRCm38) |
H84L |
probably damaging |
Het |
| Vmn2r42 |
T |
A |
7: 8,184,277 (GRCm38) |
Y782F |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,570,604 (GRCm38) |
S231P |
probably damaging |
Het |
| Wdr83os |
A |
G |
8: 85,081,867 (GRCm38) |
S83G |
probably damaging |
Het |
| Wdr91 |
T |
A |
6: 34,908,299 (GRCm38) |
Q109L |
probably damaging |
Het |
| Znrf4 |
A |
G |
17: 56,511,864 (GRCm38) |
C148R |
possibly damaging |
Het |
|
| Other mutations in Nrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Nrg1
|
APN |
8 |
31,818,089 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00500:Nrg1
|
APN |
8 |
31,822,314 (GRCm38) |
splice site |
probably null |
|
|
IGL01150:Nrg1
|
APN |
8 |
31,917,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01998:Nrg1
|
APN |
8 |
31,918,134 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02010:Nrg1
|
APN |
8 |
31,918,143 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02501:Nrg1
|
APN |
8 |
31,818,263 (GRCm38) |
splice site |
probably null |
|
|
IGL02741:Nrg1
|
APN |
8 |
31,822,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02754:Nrg1
|
APN |
8 |
31,826,363 (GRCm38) |
splice site |
probably benign |
|
|
IGL03056:Nrg1
|
APN |
8 |
31,821,423 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL03121:Nrg1
|
APN |
8 |
31,824,580 (GRCm38) |
splice site |
probably benign |
|
|
R6805_Nrg1_535
|
UTSW |
8 |
31,821,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0533:Nrg1
|
UTSW |
8 |
31,831,245 (GRCm38) |
splice site |
probably null |
|
|
R1170:Nrg1
|
UTSW |
8 |
31,837,667 (GRCm38) |
splice site |
probably benign |
|
|
R1405:Nrg1
|
UTSW |
8 |
31,917,827 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1405:Nrg1
|
UTSW |
8 |
31,917,827 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1486:Nrg1
|
UTSW |
8 |
31,818,344 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1642:Nrg1
|
UTSW |
8 |
31,824,508 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1653:Nrg1
|
UTSW |
8 |
31,818,653 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1762:Nrg1
|
UTSW |
8 |
31,822,323 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1951:Nrg1
|
UTSW |
8 |
31,918,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2060:Nrg1
|
UTSW |
8 |
31,918,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2912:Nrg1
|
UTSW |
8 |
31,818,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3786:Nrg1
|
UTSW |
8 |
31,821,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4513:Nrg1
|
UTSW |
8 |
32,477,077 (GRCm38) |
intron |
probably benign |
|
|
R4569:Nrg1
|
UTSW |
8 |
31,917,774 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4769:Nrg1
|
UTSW |
8 |
31,917,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4834:Nrg1
|
UTSW |
8 |
31,917,719 (GRCm38) |
missense |
probably benign |
|
|
R5058:Nrg1
|
UTSW |
8 |
31,824,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5230:Nrg1
|
UTSW |
8 |
31,818,479 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5443:Nrg1
|
UTSW |
8 |
31,849,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5479:Nrg1
|
UTSW |
8 |
31,818,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5940:Nrg1
|
UTSW |
8 |
31,849,344 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6010:Nrg1
|
UTSW |
8 |
31,818,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6170:Nrg1
|
UTSW |
8 |
31,818,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6379:Nrg1
|
UTSW |
8 |
32,883,721 (GRCm38) |
start gained |
probably benign |
|
|
R6460:Nrg1
|
UTSW |
8 |
31,818,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6750:Nrg1
|
UTSW |
8 |
31,818,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6767:Nrg1
|
UTSW |
8 |
31,917,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6802:Nrg1
|
UTSW |
8 |
31,821,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6804:Nrg1
|
UTSW |
8 |
31,821,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6805:Nrg1
|
UTSW |
8 |
31,821,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6848:Nrg1
|
UTSW |
8 |
31,818,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6930:Nrg1
|
UTSW |
8 |
31,818,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6963:Nrg1
|
UTSW |
8 |
31,917,662 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7070:Nrg1
|
UTSW |
8 |
31,849,437 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7176:Nrg1
|
UTSW |
8 |
31,968,036 (GRCm38) |
nonsense |
probably null |
|
|
R7490:Nrg1
|
UTSW |
8 |
31,818,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7526:Nrg1
|
UTSW |
8 |
31,818,323 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7664:Nrg1
|
UTSW |
8 |
32,009,141 (GRCm38) |
splice site |
probably null |
|
|
R7881:Nrg1
|
UTSW |
8 |
31,838,324 (GRCm38) |
nonsense |
probably null |
|
|
R8013:Nrg1
|
UTSW |
8 |
31,949,923 (GRCm38) |
missense |
probably benign |
0.41 |
|
R8342:Nrg1
|
UTSW |
8 |
31,822,306 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8759:Nrg1
|
UTSW |
8 |
31,818,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8783:Nrg1
|
UTSW |
8 |
31,958,601 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9319:Nrg1
|
UTSW |
8 |
31,833,176 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9429:Nrg1
|
UTSW |
8 |
31,818,564 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9535:Nrg1
|
UTSW |
8 |
31,949,967 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9632:Nrg1
|
UTSW |
8 |
31,917,593 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
Z1088:Nrg1
|
UTSW |
8 |
31,918,005 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCTTCTCGGAGTTGAGGC -3'
(R):5'- ATAGTTGCTAGAAGCCCTTCC -3'
Sequencing Primer
(F):5'- TTCCAGGCAGACACAGCAGG -3'
(R):5'- AGTTGCTAGAAGCCCTTCCTTTTTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation