Incidental Mutation 'R4760:Nrg1'
| ID |
356808 |
| 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 |
041974-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4760 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 32408228 bp (GRCm39)
|
| 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]
[ENSMUST00000208497]
[ENSMUST00000208617]
[ENSMUST00000209107]
[ENSMUST00000208819]
[ENSMUST00000209022]
[ENSMUST00000208931]
[ENSMUST00000208598]
[ENSMUST00000208488]
|
| 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 null
Transcript: ENSMUST00000208497
AA Change: E2*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208820
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
|
| 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: 60,379,086 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc2 |
A |
T |
19: 43,798,920 (GRCm39) |
Y512F |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,443,312 (GRCm39) |
I51N |
probably damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,633,748 (GRCm39) |
Y332C |
probably damaging |
Het |
| Ambn |
C |
T |
5: 88,615,566 (GRCm39) |
L317F |
probably damaging |
Het |
| Amn1 |
T |
C |
6: 149,086,611 (GRCm39) |
Y17C |
probably benign |
Het |
| Apoa5 |
T |
C |
9: 46,181,593 (GRCm39) |
V223A |
probably damaging |
Het |
| Best3 |
A |
T |
10: 116,860,699 (GRCm39) |
H653L |
probably benign |
Het |
| Btnl2 |
C |
A |
17: 34,582,169 (GRCm39) |
S245Y |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,366,867 (GRCm39) |
L116P |
probably damaging |
Het |
| Catsperg2 |
T |
A |
7: 29,405,060 (GRCm39) |
D698V |
probably damaging |
Het |
| Cd33 |
T |
C |
7: 43,178,919 (GRCm39) |
T307A |
probably benign |
Het |
| Cdk8 |
C |
T |
5: 146,229,476 (GRCm39) |
S230L |
probably benign |
Het |
| Cfap69 |
C |
T |
5: 5,696,939 (GRCm39) |
C119Y |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,175,694 (GRCm39) |
N122S |
probably benign |
Het |
| Col20a1 |
A |
T |
2: 180,626,196 (GRCm39) |
|
probably benign |
Het |
| Cyp2j9 |
A |
T |
4: 96,457,028 (GRCm39) |
L481Q |
probably damaging |
Het |
| Dab1 |
A |
C |
4: 104,589,342 (GRCm39) |
S550R |
probably damaging |
Het |
| Dlgap2 |
A |
C |
8: 14,823,380 (GRCm39) |
Q533P |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,811,629 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Ets2 |
G |
A |
16: 95,520,087 (GRCm39) |
V438M |
probably damaging |
Het |
| Eva1c |
G |
A |
16: 90,701,138 (GRCm39) |
D258N |
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,785,045 (GRCm39) |
H477R |
probably benign |
Het |
| Fga |
T |
G |
3: 82,938,821 (GRCm39) |
S399A |
probably benign |
Het |
| Fmo4 |
T |
A |
1: 162,637,396 (GRCm39) |
E32V |
probably damaging |
Het |
| Gm7204 |
T |
A |
16: 48,039,051 (GRCm39) |
|
noncoding transcript |
Het |
| Gpi-ps |
G |
A |
8: 5,690,473 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
A |
G |
12: 108,286,336 (GRCm39) |
I548V |
probably damaging |
Het |
| Hsfy2 |
T |
C |
1: 56,676,349 (GRCm39) |
T63A |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,922,352 (GRCm39) |
V1254A |
possibly damaging |
Het |
| Ighv8-4 |
A |
T |
12: 114,987,667 (GRCm39) |
D110E |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,446 (GRCm39) |
S101P |
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Ipo5 |
T |
C |
14: 121,179,054 (GRCm39) |
V779A |
probably benign |
Het |
| Itpr1 |
C |
T |
6: 108,326,593 (GRCm39) |
T105I |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,018,857 (GRCm39) |
M670V |
probably damaging |
Het |
| Kdm8 |
T |
A |
7: 125,054,431 (GRCm39) |
|
probably null |
Het |
| Kics2 |
T |
C |
10: 121,575,912 (GRCm39) |
V11A |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,124,016 (GRCm39) |
I281V |
probably benign |
Het |
| Lins1 |
T |
G |
7: 66,364,435 (GRCm39) |
|
probably benign |
Het |
| Map4k5 |
T |
A |
12: 69,871,372 (GRCm39) |
I517L |
possibly damaging |
Het |
| Marchf2 |
G |
T |
17: 33,928,890 (GRCm39) |
T2K |
probably damaging |
Het |
| Mlkl |
C |
G |
8: 112,046,348 (GRCm39) |
|
probably null |
Het |
| Mllt1 |
A |
G |
17: 57,209,630 (GRCm39) |
M160T |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 96,094,824 (GRCm39) |
A233T |
possibly damaging |
Het |
| Moxd2 |
C |
A |
6: 40,868,537 (GRCm39) |
T23N |
probably benign |
Het |
| Nop53 |
C |
A |
7: 15,676,812 (GRCm39) |
K100N |
probably benign |
Het |
| Or52u1 |
T |
A |
7: 104,237,696 (GRCm39) |
H228Q |
probably benign |
Het |
| Pank4 |
A |
G |
4: 155,059,091 (GRCm39) |
D408G |
possibly damaging |
Het |
| Pcdhb10 |
T |
C |
18: 37,544,995 (GRCm39) |
W24R |
probably benign |
Het |
| Pcm1 |
C |
T |
8: 41,740,775 (GRCm39) |
T968I |
probably damaging |
Het |
| Pkib |
G |
T |
10: 57,584,246 (GRCm39) |
M19I |
probably benign |
Het |
| Ppy |
A |
G |
11: 101,991,345 (GRCm39) |
|
probably null |
Het |
| Pramel21 |
G |
A |
4: 143,343,801 (GRCm39) |
R367K |
probably benign |
Het |
| Prdx3 |
A |
C |
19: 60,861,621 (GRCm39) |
C39W |
possibly damaging |
Het |
| Qrfpr |
T |
G |
3: 36,276,073 (GRCm39) |
N106H |
probably benign |
Het |
| Rai14 |
G |
A |
15: 10,575,776 (GRCm39) |
T394M |
possibly damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,188,669 (GRCm39) |
L1371Q |
probably benign |
Het |
| Rbm12 |
A |
G |
2: 155,939,048 (GRCm39) |
L408P |
probably damaging |
Het |
| Rdx |
T |
C |
9: 51,977,174 (GRCm39) |
I141T |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,684,985 (GRCm39) |
V11E |
possibly damaging |
Het |
| Relch |
T |
A |
1: 105,649,030 (GRCm39) |
M723K |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,592,347 (GRCm39) |
S936P |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,102,065 (GRCm39) |
M403T |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc35g2 |
T |
G |
9: 100,435,549 (GRCm39) |
I41L |
probably benign |
Het |
| Slc39a12 |
G |
A |
2: 14,405,134 (GRCm39) |
S242N |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,801,076 (GRCm39) |
D535E |
probably damaging |
Het |
| Spata31d1a |
G |
T |
13: 59,849,459 (GRCm39) |
P890T |
probably damaging |
Het |
| Sync |
A |
G |
4: 129,187,232 (GRCm39) |
Q88R |
probably benign |
Het |
| Tdrp |
A |
G |
8: 14,024,527 (GRCm39) |
|
probably benign |
Het |
| Tg |
G |
T |
15: 66,565,168 (GRCm39) |
C1170F |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,318,937 (GRCm39) |
D781E |
probably benign |
Het |
| Tnp2 |
T |
A |
16: 10,606,207 (GRCm39) |
T87S |
possibly damaging |
Het |
| Tpp2 |
T |
C |
1: 44,010,875 (GRCm39) |
V554A |
probably benign |
Het |
| Traf3ip2 |
T |
C |
10: 39,521,735 (GRCm39) |
I431T |
probably damaging |
Het |
| Trav9d-4 |
A |
T |
14: 53,221,258 (GRCm39) |
H84L |
probably damaging |
Het |
| Vmn2r42 |
T |
A |
7: 8,187,276 (GRCm39) |
Y782F |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,547,567 (GRCm39) |
S231P |
probably damaging |
Het |
| Wdr83os |
A |
G |
8: 85,808,496 (GRCm39) |
S83G |
probably damaging |
Het |
| Wdr91 |
T |
A |
6: 34,885,234 (GRCm39) |
Q109L |
probably damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,864 (GRCm39) |
C148R |
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 |
|
|
R4569:Nrg1
|
UTSW |
8 |
32,407,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GATCTTCTCGGAGTTGAGGC -3'
(R):5'- ATAGTTGCTAGAAGCCCTTCC -3'
Sequencing Primer
(F):5'- TTCCAGGCAGACACAGCAGG -3'
(R):5'- AGTTGCTAGAAGCCCTTCCTTTTTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation