Incidental Mutation 'R1951:Nrg1'
ID |
217300 |
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 |
039965-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1951 (G1)
|
Quality Score |
182 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32408221 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 4
(Y4C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208497]
[ENSMUST00000208931]
[ENSMUST00000208488]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000209022]
[ENSMUST00000208819]
[ENSMUST00000209107]
|
AlphaFold |
A0A140LHZ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073884
AA Change: Y4C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073546 Gene: ENSMUSG00000062991 AA Change: Y4C
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 damaging
Transcript: ENSMUST00000208497
AA Change: Y4C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208931
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208820
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
|
Meta Mutation Damage Score |
0.1175 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
98% (84/86) |
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 |
Abca15 |
C |
T |
7: 119,960,655 (GRCm39) |
R706C |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,258,624 (GRCm39) |
F847S |
probably benign |
Het |
Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
Arhgap28 |
G |
A |
17: 68,208,336 (GRCm39) |
A44V |
probably benign |
Het |
Asap3 |
C |
T |
4: 135,954,767 (GRCm39) |
R60* |
probably null |
Het |
Baz1b |
T |
A |
5: 135,245,593 (GRCm39) |
N347K |
probably benign |
Het |
Best2 |
T |
A |
8: 85,737,858 (GRCm39) |
N179I |
possibly damaging |
Het |
Bfar |
C |
T |
16: 13,519,970 (GRCm39) |
S276L |
probably damaging |
Het |
Bloc1s3 |
A |
G |
7: 19,241,483 (GRCm39) |
V15A |
possibly damaging |
Het |
Borcs5 |
A |
G |
6: 134,687,230 (GRCm39) |
H196R |
unknown |
Het |
Calhm3 |
A |
G |
19: 47,140,256 (GRCm39) |
L279P |
probably benign |
Het |
Cand1 |
A |
T |
10: 119,043,925 (GRCm39) |
|
probably benign |
Het |
Car15 |
T |
C |
16: 17,655,269 (GRCm39) |
D57G |
possibly damaging |
Het |
Casp12 |
G |
A |
9: 5,348,959 (GRCm39) |
|
probably null |
Het |
Cd93 |
T |
C |
2: 148,283,778 (GRCm39) |
T523A |
probably benign |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Ckap5 |
A |
G |
2: 91,386,837 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
G |
A |
9: 105,814,156 (GRCm39) |
R619W |
unknown |
Het |
Colec12 |
G |
A |
18: 9,859,975 (GRCm39) |
|
probably null |
Het |
Crmp1 |
G |
A |
5: 37,430,699 (GRCm39) |
V222I |
possibly damaging |
Het |
Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
Ctbp2 |
A |
G |
7: 132,616,756 (GRCm39) |
S60P |
probably benign |
Het |
Cyp2c68 |
T |
C |
19: 39,700,972 (GRCm39) |
Y282C |
probably benign |
Het |
Dhx36 |
T |
C |
3: 62,391,694 (GRCm39) |
I551V |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,206,537 (GRCm39) |
|
probably benign |
Het |
Dlgap1 |
A |
T |
17: 71,068,306 (GRCm39) |
I300F |
probably damaging |
Het |
Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,061,704 (GRCm39) |
R2794* |
probably null |
Het |
Fcgr1 |
G |
A |
3: 96,194,386 (GRCm39) |
T167I |
probably damaging |
Het |
Fgl1 |
G |
T |
8: 41,650,387 (GRCm39) |
F187L |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,860,242 (GRCm39) |
V2096E |
probably benign |
Het |
Gm10647 |
A |
G |
9: 66,705,762 (GRCm39) |
|
probably benign |
Het |
Gm14226 |
G |
A |
2: 154,866,255 (GRCm39) |
D71N |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,760,829 (GRCm39) |
I284N |
probably damaging |
Het |
Hirip3 |
A |
G |
7: 126,462,038 (GRCm39) |
R19G |
probably damaging |
Het |
Ift70b |
A |
G |
2: 75,767,586 (GRCm39) |
L389P |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,086,438 (GRCm39) |
N174D |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,929,317 (GRCm39) |
D1078G |
probably damaging |
Het |
Khdc3 |
T |
C |
9: 73,010,519 (GRCm39) |
V123A |
possibly damaging |
Het |
Klhl13 |
A |
G |
X: 23,127,820 (GRCm39) |
|
probably benign |
Het |
Klhl42 |
T |
C |
6: 146,993,321 (GRCm39) |
S98P |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,670,298 (GRCm39) |
N602S |
possibly damaging |
Het |
Lrrd1 |
A |
T |
5: 3,901,488 (GRCm39) |
I598F |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,458,372 (GRCm39) |
T318A |
probably benign |
Het |
Mfsd6 |
A |
G |
1: 52,748,517 (GRCm39) |
F116S |
probably damaging |
Het |
Ncam1 |
T |
C |
9: 49,456,492 (GRCm39) |
I486V |
probably benign |
Het |
Nptx1 |
A |
G |
11: 119,434,006 (GRCm39) |
|
probably null |
Het |
Nsf |
G |
A |
11: 103,773,702 (GRCm39) |
R271* |
probably null |
Het |
Or5d39 |
A |
G |
2: 87,979,641 (GRCm39) |
S241P |
possibly damaging |
Het |
Or8g24 |
T |
A |
9: 38,989,580 (GRCm39) |
I154F |
probably benign |
Het |
Or8k18 |
G |
C |
2: 86,085,440 (GRCm39) |
T199S |
probably benign |
Het |
Or8k21 |
T |
A |
2: 86,145,504 (GRCm39) |
N42I |
probably damaging |
Het |
Or8k24 |
A |
T |
2: 86,215,855 (GRCm39) |
H302Q |
probably benign |
Het |
Pax2 |
A |
G |
19: 44,777,271 (GRCm39) |
T155A |
probably benign |
Het |
Pdia4 |
A |
G |
6: 47,780,813 (GRCm39) |
Y212H |
probably damaging |
Het |
Pgr |
A |
G |
9: 8,946,954 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
G |
T |
11: 71,965,450 (GRCm39) |
H112N |
possibly damaging |
Het |
Ppargc1b |
G |
T |
18: 61,431,848 (GRCm39) |
T1000K |
possibly damaging |
Het |
Psd3 |
C |
A |
8: 68,416,139 (GRCm39) |
C586F |
probably benign |
Het |
Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
Rabep2 |
A |
T |
7: 126,037,736 (GRCm39) |
R169S |
possibly damaging |
Het |
Rad21l |
T |
C |
2: 151,497,179 (GRCm39) |
R309G |
probably benign |
Het |
Rbm12 |
T |
C |
2: 155,939,133 (GRCm39) |
R380G |
probably damaging |
Het |
Selp |
A |
G |
1: 163,954,081 (GRCm39) |
N127S |
probably benign |
Het |
Slc12a2 |
A |
G |
18: 58,012,467 (GRCm39) |
T197A |
possibly damaging |
Het |
Slc22a18 |
C |
T |
7: 143,029,984 (GRCm39) |
T17I |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,065,868 (GRCm39) |
E2026G |
possibly damaging |
Het |
Srf |
A |
T |
17: 46,862,633 (GRCm39) |
M285K |
possibly damaging |
Het |
Tanc1 |
T |
C |
2: 59,622,156 (GRCm39) |
V425A |
possibly damaging |
Het |
Tle4 |
A |
T |
19: 14,493,721 (GRCm39) |
|
probably null |
Het |
Tmem132e |
A |
G |
11: 82,335,908 (GRCm39) |
R905G |
possibly damaging |
Het |
Tmem200c |
A |
T |
17: 69,147,983 (GRCm39) |
I189F |
probably damaging |
Het |
Trappc13 |
T |
C |
13: 104,311,150 (GRCm39) |
Q87R |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,673,219 (GRCm39) |
D511E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,632,634 (GRCm39) |
I14140N |
possibly damaging |
Het |
Virma |
A |
G |
4: 11,513,907 (GRCm39) |
D587G |
probably benign |
Het |
Vmn1r72 |
A |
G |
7: 11,403,731 (GRCm39) |
L239P |
probably damaging |
Het |
Vmn2r68 |
A |
G |
7: 84,883,102 (GRCm39) |
F217L |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,881,041 (GRCm39) |
|
probably null |
Het |
Vrtn |
T |
C |
12: 84,695,973 (GRCm39) |
V241A |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,927,136 (GRCm39) |
V343D |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCTCGGAGTTGAGGCAC -3'
(R):5'- ATAGTTGCTAGAAGCCCTTCC -3'
Sequencing Primer
(F):5'- CGCTTCCAGGCAGACACAG -3'
(R):5'- AGTTGCTAGAAGCCCTTCCTTTTTC -3'
|
Posted On |
2014-08-01 |