Incidental Mutation 'R7490:Nrg1'
| ID |
580681 |
| 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 |
045564-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32308682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 493
(R493C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000208497]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000208819]
[ENSMUST00000209107]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073884
AA Change: R493C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: R493C
| 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 damaging
Transcript: ENSMUST00000207417
AA Change: R430C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207470
AA Change: R438C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208205
AA Change: R433C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208488
AA Change: R456C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209107
AA Change: R445C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
C |
1: 53,202,389 (GRCm39) |
D132G |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,168,437 (GRCm39) |
E1424G |
possibly damaging |
Het |
| Adamts4 |
C |
T |
1: 171,084,169 (GRCm39) |
Q549* |
probably null |
Het |
| Adcy4 |
A |
G |
14: 56,007,890 (GRCm39) |
I893T |
possibly damaging |
Het |
| Ago1 |
A |
T |
4: 126,333,298 (GRCm39) |
*858R |
probably null |
Het |
| Ank2 |
T |
A |
3: 126,752,538 (GRCm39) |
I393L |
probably damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,687,459 (GRCm39) |
T987A |
probably benign |
Het |
| Ap2a1 |
G |
T |
7: 44,552,213 (GRCm39) |
N790K |
probably benign |
Het |
| Aqr |
A |
G |
2: 113,989,349 (GRCm39) |
|
probably null |
Het |
| Arel1 |
G |
T |
12: 84,988,685 (GRCm39) |
F21L |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,686,895 (GRCm39) |
D743G |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,517,272 (GRCm39) |
F354I |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,359,818 (GRCm39) |
H259R |
unknown |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TGGTT |
TGGTTCTGTGGTCACGGGTT |
3: 95,795,498 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GTCACTGGTTCTGTG |
GTCACTGGTTCTGTGTTCACTGGTTCTGTG |
3: 95,795,478 (GRCm39) |
|
probably benign |
Het |
| Bckdk |
T |
A |
7: 127,504,145 (GRCm39) |
S15T |
unknown |
Het |
| C4b |
G |
T |
17: 34,950,054 (GRCm39) |
Y1405* |
probably null |
Het |
| Camk4 |
G |
A |
18: 33,072,598 (GRCm39) |
|
probably null |
Het |
| Car11 |
T |
A |
7: 45,349,742 (GRCm39) |
W16R |
probably benign |
Het |
| Ccdc80 |
A |
C |
16: 44,916,763 (GRCm39) |
E506D |
probably damaging |
Het |
| Chmp6 |
C |
T |
11: 119,806,269 (GRCm39) |
Q32* |
probably null |
Het |
| Colq |
G |
A |
14: 31,267,043 (GRCm39) |
P166S |
possibly damaging |
Het |
| Ctxn3 |
T |
C |
18: 57,610,357 (GRCm39) |
M58T |
probably damaging |
Het |
| Cxcl3 |
A |
T |
5: 90,934,516 (GRCm39) |
I93L |
unknown |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,380 (GRCm39) |
Y227C |
probably damaging |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,954,204 (GRCm39) |
G792D |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,584,993 (GRCm39) |
|
probably null |
Het |
| Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
| Fbxl13 |
T |
A |
5: 21,728,058 (GRCm39) |
R550* |
probably null |
Het |
| Gm4302 |
A |
T |
10: 100,177,445 (GRCm39) |
Q243L |
unknown |
Het |
| Gm7168 |
A |
T |
17: 14,169,275 (GRCm39) |
Y214F |
probably benign |
Het |
| Gtf3c1 |
C |
T |
7: 125,246,663 (GRCm39) |
D1549N |
probably damaging |
Het |
| Gtf3c5 |
A |
T |
2: 28,461,153 (GRCm39) |
D320E |
probably damaging |
Het |
| Hivep1 |
T |
A |
13: 42,311,126 (GRCm39) |
V1122D |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,600,987 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
A |
1: 82,264,985 (GRCm39) |
Q1077L |
probably damaging |
Het |
| Ivd |
A |
T |
2: 118,707,373 (GRCm39) |
M296L |
possibly damaging |
Het |
| Katnal1 |
T |
C |
5: 148,828,492 (GRCm39) |
D318G |
probably null |
Het |
| L3mbtl3 |
C |
T |
10: 26,215,129 (GRCm39) |
V194I |
unknown |
Het |
| Malt1 |
C |
A |
18: 65,581,282 (GRCm39) |
Q237K |
probably benign |
Het |
| Marchf11 |
C |
T |
15: 26,311,187 (GRCm39) |
A221V |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,524 (GRCm39) |
I361M |
possibly damaging |
Het |
| Oga |
G |
A |
19: 45,755,886 (GRCm39) |
R586* |
probably null |
Het |
| Or10g9b |
T |
A |
9: 39,917,720 (GRCm39) |
H175L |
probably damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,739 (GRCm39) |
I256T |
probably damaging |
Het |
| Or4c107 |
A |
C |
2: 88,789,392 (GRCm39) |
Y194S |
probably benign |
Het |
| Or51g2 |
G |
A |
7: 102,623,017 (GRCm39) |
P61S |
probably damaging |
Het |
| Or5ar1 |
A |
T |
2: 85,671,307 (GRCm39) |
V276E |
probably damaging |
Het |
| Or7g16 |
A |
T |
9: 18,727,229 (GRCm39) |
Y120* |
probably null |
Het |
| Orai3 |
C |
T |
7: 127,372,799 (GRCm39) |
A100V |
possibly damaging |
Het |
| Oxsm |
T |
A |
14: 16,241,066 (GRCm38) |
M328L |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,144,309 (GRCm39) |
V186A |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,866,265 (GRCm39) |
D980V |
|
Het |
| Ppp1r16b |
T |
C |
2: 158,603,388 (GRCm39) |
Y438H |
probably damaging |
Het |
| Ppp4c |
A |
T |
7: 126,386,504 (GRCm39) |
H164Q |
probably damaging |
Het |
| Prl8a2 |
C |
A |
13: 27,536,753 (GRCm39) |
T125K |
possibly damaging |
Het |
| Rasa2 |
T |
C |
9: 96,448,175 (GRCm39) |
N494S |
possibly damaging |
Het |
| Rpl18a |
T |
C |
8: 71,348,150 (GRCm39) |
D147G |
probably benign |
Het |
| Scg3 |
T |
C |
9: 75,576,559 (GRCm39) |
D272G |
possibly damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,077,818 (GRCm39) |
D184V |
probably benign |
Het |
| Simc1 |
T |
G |
13: 54,672,162 (GRCm39) |
L170R |
possibly damaging |
Het |
| Slx4 |
T |
C |
16: 3,797,995 (GRCm39) |
E1463G |
possibly damaging |
Het |
| Stk31 |
T |
A |
6: 49,416,166 (GRCm39) |
|
probably null |
Het |
| Tas1r3 |
A |
G |
4: 155,946,480 (GRCm39) |
I375T |
probably damaging |
Het |
| Tbc1d24 |
T |
C |
17: 24,401,494 (GRCm39) |
D405G |
probably damaging |
Het |
| Tcerg1l |
G |
A |
7: 137,861,557 (GRCm39) |
P391S |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,695,083 (GRCm39) |
S125G |
probably benign |
Het |
| Trim16 |
C |
A |
11: 62,724,949 (GRCm39) |
H246N |
probably damaging |
Het |
| Tti1 |
T |
A |
2: 157,837,392 (GRCm39) |
N896I |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,451,286 (GRCm39) |
N395S |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,203,589 (GRCm39) |
I1014V |
probably benign |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,214 (GRCm39) |
Q206L |
possibly damaging |
Het |
| Washc5 |
T |
A |
15: 59,209,053 (GRCm39) |
N1057I |
probably benign |
Het |
| Xpo4 |
GGTATTAGCGGAGT |
GGT |
14: 57,840,078 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
A |
T |
8: 122,331,756 (GRCm39) |
S536T |
unknown |
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 |
|
|
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'- GCTGGTACTCTGATGTGCAG -3'
(R):5'- GGTGCTGAACTTTCTAGTGTAAAAC -3'
Sequencing Primer
(F):5'- GGGGTGATGATCATACTTCTTCTCC -3'
(R):5'- ATATCCCGTGGTGAACTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation