Incidental Mutation 'R9535:Nrg1'
| ID |
719652 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9535 (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 C
at 32439995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 134
(D134G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000208819]
[ENSMUST00000209022]
[ENSMUST00000209107]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207417
AA Change: D134G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207470
AA Change: D134G
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208205
AA Change: D134G
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
AA Change: D134G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
AA Change: D134G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
AA Change: D134G
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
AA Change: D141G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
AA Change: D141G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
A |
17: 65,141,326 (GRCm39) |
R65S |
unknown |
Het |
| Abcc6 |
A |
G |
7: 45,626,687 (GRCm39) |
S1457P |
probably damaging |
Het |
| Alad |
T |
C |
4: 62,428,777 (GRCm39) |
D259G |
probably damaging |
Het |
| Atmin |
A |
G |
8: 117,683,327 (GRCm39) |
D329G |
probably damaging |
Het |
| Ccdc121 |
A |
G |
5: 31,644,954 (GRCm39) |
I236V |
probably benign |
Het |
| Cdkal1 |
A |
G |
13: 30,034,007 (GRCm39) |
F29L |
probably benign |
Het |
| Chrng |
C |
T |
1: 87,139,202 (GRCm39) |
P518S |
probably benign |
Het |
| Cpa1 |
G |
T |
6: 30,641,847 (GRCm39) |
D224Y |
probably damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,895,365 (GRCm39) |
I1222V |
probably benign |
Het |
| Dnm1 |
A |
T |
2: 32,202,344 (GRCm39) |
S773T |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,706,368 (GRCm39) |
V419E |
possibly damaging |
Het |
| Il18rap |
T |
A |
1: 40,586,990 (GRCm39) |
V424E |
probably benign |
Het |
| Kdm6b |
C |
A |
11: 69,297,276 (GRCm39) |
G359* |
probably null |
Het |
| Krt84 |
A |
G |
15: 101,438,016 (GRCm39) |
|
probably null |
Het |
| Lig4 |
C |
A |
8: 10,022,325 (GRCm39) |
C485F |
probably damaging |
Het |
| Mpo |
T |
A |
11: 87,690,794 (GRCm39) |
W411R |
probably damaging |
Het |
| Mpv17l |
A |
G |
16: 13,759,149 (GRCm39) |
E8G |
probably benign |
Het |
| Mrps34 |
T |
C |
17: 25,114,451 (GRCm39) |
Y104H |
probably benign |
Het |
| Muc15 |
T |
A |
2: 110,562,007 (GRCm39) |
W148R |
probably damaging |
Het |
| Prdm1 |
T |
C |
10: 44,317,608 (GRCm39) |
Y405C |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,158,431 (GRCm39) |
S501P |
possibly damaging |
Het |
| Pwp1 |
C |
A |
10: 85,723,958 (GRCm39) |
S486R |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,557,171 (GRCm39) |
E1556G |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,561,698 (GRCm39) |
Q47R |
unknown |
Het |
| Siglece |
A |
G |
7: 43,307,055 (GRCm39) |
F311L |
probably benign |
Het |
| Slc27a3 |
A |
G |
3: 90,293,618 (GRCm39) |
L589P |
probably damaging |
Het |
| Spata31e2 |
A |
C |
1: 26,721,232 (GRCm39) |
L1316* |
probably null |
Het |
| Synrg |
T |
A |
11: 83,881,660 (GRCm39) |
M332K |
probably benign |
Het |
| Tasor2 |
T |
A |
13: 3,623,559 (GRCm39) |
R2130S |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,270,759 (GRCm39) |
N1183I |
probably damaging |
Het |
| Tmed11 |
A |
G |
5: 108,926,915 (GRCm39) |
I119T |
possibly damaging |
Het |
| Ttll3 |
C |
T |
6: 113,389,834 (GRCm39) |
R740W |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,935,161 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
C |
T |
17: 21,507,418 (GRCm39) |
H179Y |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,384,825 (GRCm39) |
M298V |
possibly damaging |
Het |
| Xrcc4 |
T |
A |
13: 90,089,118 (GRCm39) |
M280L |
probably benign |
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 |
|
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 |
|
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'- ATCTTGAGCCACCAATCAGG -3'
(R):5'- GGGGAGTAAACGGTTCCTCG -3'
Sequencing Primer
(F):5'- CAACCATCCTGCCTTATGTAAAATTC -3'
(R):5'- GGGAGTAAACGGTTCCTCGTAATTAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation