Incidental Mutation 'R7070:Nrg1'
| ID |
548838 |
| 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 |
045166-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7070 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32339465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 45
(T45S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000208497]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000208819]
[ENSMUST00000208931]
[ENSMUST00000209022]
[ENSMUST00000209107]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073884
AA Change: T224S
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: T224S
| 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
AA Change: T169S
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207470
AA Change: T169S
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208205
AA Change: T169S
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208335
AA Change: T39S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208488
AA Change: T169S
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
AA Change: T224S
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
AA Change: T169S
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
AA Change: T169S
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208819
AA Change: T169S
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208931
AA Change: T45S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
AA Change: T176S
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
AA Change: T176S
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 |
|---|
| 4930544G11Rik |
T |
C |
6: 65,930,232 (GRCm39) |
Y156H |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,240,701 (GRCm39) |
F855I |
probably benign |
Het |
| Abca2 |
T |
G |
2: 25,333,007 (GRCm39) |
F1569V |
probably benign |
Het |
| Adcy8 |
T |
A |
15: 64,792,404 (GRCm39) |
N184I |
probably damaging |
Het |
| Akap3 |
T |
C |
6: 126,850,987 (GRCm39) |
V835A |
probably damaging |
Het |
| Atg5 |
T |
A |
10: 44,162,150 (GRCm39) |
L22H |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,152,879 (GRCm39) |
F196L |
possibly damaging |
Het |
| C1qtnf9 |
A |
G |
14: 61,017,232 (GRCm39) |
H254R |
probably damaging |
Het |
| Capza3 |
C |
T |
6: 139,987,646 (GRCm39) |
R82C |
probably damaging |
Het |
| Ccdc126 |
A |
G |
6: 49,316,796 (GRCm39) |
D92G |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,583,915 (GRCm39) |
M585K |
probably benign |
Het |
| Chrnb3 |
A |
T |
8: 27,883,989 (GRCm39) |
Y242F |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,425,593 (GRCm39) |
V467A |
possibly damaging |
Het |
| Cnot8 |
A |
G |
11: 58,008,278 (GRCm39) |
D248G |
probably benign |
Het |
| Cntn1 |
C |
T |
15: 92,151,917 (GRCm39) |
T452M |
probably damaging |
Het |
| Cygb |
C |
A |
11: 116,544,851 (GRCm39) |
|
probably benign |
Het |
| D930020B18Rik |
G |
A |
10: 121,477,879 (GRCm39) |
V35M |
probably damaging |
Het |
| Dcaf17 |
C |
T |
2: 70,918,857 (GRCm39) |
T477M |
probably benign |
Het |
| Dpp3 |
A |
T |
19: 4,968,356 (GRCm39) |
F239I |
probably benign |
Het |
| Dst |
T |
A |
1: 34,314,383 (GRCm39) |
V6442E |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,762,685 (GRCm39) |
I188F |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,621 (GRCm39) |
M74V |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,397,288 (GRCm39) |
D933G |
possibly damaging |
Het |
| Gtf2i |
T |
A |
5: 134,311,657 (GRCm39) |
E223D |
probably damaging |
Het |
| H2-M5 |
C |
A |
17: 37,300,051 (GRCm39) |
G41V |
possibly damaging |
Het |
| Hars2 |
C |
T |
18: 36,924,165 (GRCm39) |
R501* |
probably null |
Het |
| Heatr4 |
A |
G |
12: 84,016,632 (GRCm39) |
V545A |
probably benign |
Het |
| Hsd3b3 |
T |
A |
3: 98,649,787 (GRCm39) |
T179S |
possibly damaging |
Het |
| Ighv5-6 |
A |
G |
12: 113,589,429 (GRCm39) |
V17A |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,137,255 (GRCm39) |
D772G |
probably damaging |
Het |
| Jakmip2 |
A |
T |
18: 43,690,393 (GRCm39) |
|
probably null |
Het |
| Kcnj15 |
C |
G |
16: 95,096,690 (GRCm39) |
T104S |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,501,744 (GRCm39) |
E927G |
probably damaging |
Het |
| Larp1b |
G |
T |
3: 40,931,086 (GRCm39) |
G275C |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,932,029 (GRCm39) |
H3552Q |
probably benign |
Het |
| Mast2 |
A |
T |
4: 116,168,052 (GRCm39) |
I960N |
probably benign |
Het |
| Mcee |
G |
A |
7: 64,050,078 (GRCm39) |
V70I |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,557,219 (GRCm39) |
Q3025* |
probably null |
Het |
| Nutm1 |
T |
A |
2: 112,079,806 (GRCm39) |
H703L |
probably benign |
Het |
| Or5m10 |
G |
A |
2: 85,718,034 (GRCm39) |
V297I |
probably benign |
Het |
| Or7a38 |
A |
T |
10: 78,753,102 (GRCm39) |
I143L |
probably benign |
Het |
| Pbx1 |
A |
C |
1: 168,023,337 (GRCm39) |
C273G |
probably damaging |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Phf1 |
A |
G |
17: 27,153,307 (GRCm39) |
T42A |
possibly damaging |
Het |
| Pigm |
T |
A |
1: 172,205,233 (GRCm39) |
I323N |
probably damaging |
Het |
| Plcg2 |
G |
A |
8: 118,323,045 (GRCm39) |
R700H |
probably benign |
Het |
| Ptx4 |
G |
A |
17: 25,341,971 (GRCm39) |
A149T |
probably benign |
Het |
| Rab6a |
A |
G |
7: 100,279,064 (GRCm39) |
D68G |
probably damaging |
Het |
| Rcan3 |
C |
T |
4: 135,143,898 (GRCm39) |
E185K |
probably damaging |
Het |
| Rnf14 |
A |
G |
18: 38,434,781 (GRCm39) |
N76S |
possibly damaging |
Het |
| Rpf1 |
A |
T |
3: 146,217,939 (GRCm39) |
F192I |
probably damaging |
Het |
| Rps6ka1 |
T |
C |
4: 133,588,759 (GRCm39) |
T285A |
probably benign |
Het |
| Rrp8 |
T |
C |
7: 105,384,083 (GRCm39) |
K94E |
possibly damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,836,299 (GRCm39) |
K122E |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,980,187 (GRCm39) |
T53A |
possibly damaging |
Het |
| Slc23a1 |
T |
G |
18: 35,754,834 (GRCm39) |
D519A |
probably damaging |
Het |
| Slfn14 |
T |
G |
11: 83,167,531 (GRCm39) |
R661S |
probably benign |
Het |
| Snta1 |
T |
C |
2: 154,222,979 (GRCm39) |
E248G |
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
G |
T |
5: 77,195,124 (GRCm39) |
|
probably null |
Het |
| Stk11ip |
C |
T |
1: 75,504,259 (GRCm39) |
H297Y |
probably benign |
Het |
| Synpr |
T |
A |
14: 13,493,628 (GRCm38) |
F76I |
probably damaging |
Het |
| Tns2 |
A |
G |
15: 102,012,968 (GRCm39) |
R27G |
possibly damaging |
Het |
| Trav5-4 |
C |
T |
14: 53,941,912 (GRCm39) |
S95F |
possibly damaging |
Het |
| Ttyh1 |
T |
C |
7: 4,136,363 (GRCm39) |
Y330H |
probably damaging |
Het |
| Ugt1a2 |
T |
A |
1: 88,129,224 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
T |
C |
7: 85,060,688 (GRCm39) |
I299V |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,924,313 (GRCm39) |
D37E |
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 |
|
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 |
|
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'- AGCTGTTACAGGTACGAGGC -3'
(R):5'- GTCAGACACTTTGTTATCAGTTGTCTG -3'
Sequencing Primer
(F):5'- GGCACAGAGAGGAATTCATTTCTTAC -3'
(R):5'- GGTGACTAGACAGCATAAACTTGCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation