Incidental Mutation 'R8783:Nrg1'
| ID |
670414 |
| 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 |
068631-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8783 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32448629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 104
(L104Q)
|
| 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: L104Q
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207470
AA Change: L104Q
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208205
AA Change: L104Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208488
AA Change: L104Q
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208598
AA Change: L104Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208617
AA Change: L104Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208819
AA Change: L104Q
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209022
AA Change: L111Q
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209107
AA Change: L111Q
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (75/75) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
T |
A |
13: 54,700,520 (GRCm39) |
M273L |
probably benign |
Het |
| Aars1 |
A |
G |
8: 111,776,515 (GRCm39) |
N657S |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,988,837 (GRCm39) |
N3374Y |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,846,455 (GRCm39) |
E180G |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,727,967 (GRCm39) |
|
probably benign |
Het |
| Armc5 |
G |
A |
7: 127,837,425 (GRCm39) |
A43T |
probably damaging |
Het |
| Atad3a |
T |
A |
4: 155,840,152 (GRCm39) |
D142V |
probably damaging |
Het |
| B4galnt4 |
A |
T |
7: 140,643,759 (GRCm39) |
K54M |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,883,562 (GRCm39) |
E251G |
probably damaging |
Het |
| Bptf |
A |
G |
11: 107,022,357 (GRCm39) |
V131A |
unknown |
Het |
| Btbd7 |
T |
A |
12: 102,754,501 (GRCm39) |
H755L |
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,302,303 (GRCm39) |
V1128A |
possibly damaging |
Het |
| Ccl2 |
T |
C |
11: 81,927,360 (GRCm39) |
I43T |
probably damaging |
Het |
| Cdc25b |
T |
G |
2: 131,033,772 (GRCm39) |
S207A |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,100,347 (GRCm39) |
T1725A |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,225,888 (GRCm39) |
S3067T |
possibly damaging |
Het |
| Col9a3 |
G |
A |
2: 180,255,970 (GRCm39) |
D448N |
probably damaging |
Het |
| Cpxm1 |
C |
A |
2: 130,237,643 (GRCm39) |
R187S |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,193,732 (GRCm39) |
N916I |
probably damaging |
Het |
| Creld1 |
A |
G |
6: 113,468,686 (GRCm39) |
Y269C |
probably damaging |
Het |
| Ctsz |
G |
T |
2: 174,280,675 (GRCm39) |
S6* |
probably null |
Het |
| Cul7 |
T |
C |
17: 46,966,575 (GRCm39) |
S633P |
probably benign |
Het |
| Eci2 |
T |
A |
13: 35,174,180 (GRCm39) |
N160I |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,015,499 (GRCm39) |
M340K |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,440,220 (GRCm39) |
Y72F |
possibly damaging |
Het |
| Erbb4 |
A |
C |
1: 68,079,331 (GRCm39) |
Y1250D |
possibly damaging |
Het |
| Fhad1 |
C |
T |
4: 141,636,403 (GRCm39) |
V1146M |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,226,185 (GRCm39) |
Y1826C |
probably benign |
Het |
| Gm3252 |
A |
G |
14: 4,743,761 (GRCm38) |
K200E |
probably benign |
Het |
| Gramd1a |
T |
C |
7: 30,832,220 (GRCm39) |
T640A |
possibly damaging |
Het |
| Gse1 |
A |
T |
8: 121,303,117 (GRCm39) |
Q1086L |
unknown |
Het |
| Gtf2f2 |
C |
A |
14: 76,245,164 (GRCm39) |
G41W |
probably damaging |
Het |
| Hhat |
A |
G |
1: 192,196,245 (GRCm39) |
Y483H |
probably damaging |
Het |
| Ifna13 |
T |
A |
4: 88,562,526 (GRCm39) |
R33W |
probably damaging |
Het |
| Ighg2c |
T |
A |
12: 113,252,412 (GRCm39) |
S47C |
|
Het |
| Ing5 |
A |
T |
1: 93,740,154 (GRCm39) |
D101V |
probably damaging |
Het |
| Kif23 |
T |
C |
9: 61,834,853 (GRCm39) |
T379A |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,207,247 (GRCm39) |
S898T |
probably benign |
Het |
| Mep1a |
T |
C |
17: 43,789,081 (GRCm39) |
D578G |
probably benign |
Het |
| Mgam |
A |
T |
6: 40,633,423 (GRCm39) |
H243L |
probably damaging |
Het |
| Mlf1 |
G |
A |
3: 67,291,997 (GRCm39) |
R54H |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,019,861 (GRCm39) |
K752M |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,875 (GRCm39) |
T1104A |
unknown |
Het |
| Mup18 |
T |
A |
4: 61,591,767 (GRCm39) |
D53V |
probably benign |
Het |
| Neb |
A |
T |
2: 52,148,644 (GRCm39) |
D2634E |
probably damaging |
Het |
| Nfatc3 |
A |
T |
8: 106,825,784 (GRCm39) |
I620F |
possibly damaging |
Het |
| Nsd2 |
T |
A |
5: 34,036,455 (GRCm39) |
D646E |
possibly damaging |
Het |
| Or10w1 |
A |
T |
19: 13,632,323 (GRCm39) |
R177W |
probably damaging |
Het |
| Or4p19 |
T |
C |
2: 88,242,951 (GRCm39) |
N17S |
probably benign |
Het |
| Or51ai2 |
A |
T |
7: 103,586,751 (GRCm39) |
T55S |
possibly damaging |
Het |
| Pbp2 |
T |
C |
6: 135,287,330 (GRCm39) |
S6G |
probably benign |
Het |
| Pcdhga5 |
T |
C |
18: 37,828,596 (GRCm39) |
I348T |
probably benign |
Het |
| Pdxk |
A |
G |
10: 78,287,339 (GRCm39) |
V74A |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,132,841 (GRCm39) |
R469H |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,740,741 (GRCm39) |
S395R |
probably damaging |
Het |
| Polr2i |
A |
G |
7: 29,931,790 (GRCm39) |
Y7C |
possibly damaging |
Het |
| Psmc5 |
A |
T |
11: 106,153,858 (GRCm39) |
K397N |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,026 (GRCm39) |
D1372G |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,005,651 (GRCm39) |
V181E |
probably damaging |
Het |
| Rassf3 |
T |
G |
10: 121,253,069 (GRCm39) |
N46T |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 107,946,272 (GRCm39) |
E301G |
probably benign |
Het |
| Sec24b |
T |
A |
3: 129,783,342 (GRCm39) |
M1099L |
probably benign |
Het |
| Shisa4 |
A |
G |
1: 135,300,944 (GRCm39) |
C109R |
probably damaging |
Het |
| Slc7a1 |
T |
A |
5: 148,279,643 (GRCm39) |
E237V |
probably benign |
Het |
| Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
| Tas2r105 |
A |
G |
6: 131,663,732 (GRCm39) |
I232T |
possibly damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,612 (GRCm39) |
T172A |
probably benign |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,780 (GRCm39) |
Y192C |
probably damaging |
Het |
| Trim6 |
G |
A |
7: 103,874,853 (GRCm39) |
C30Y |
probably damaging |
Het |
| Trim65 |
T |
A |
11: 116,017,143 (GRCm39) |
N440Y |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,573,694 (GRCm39) |
I25733S |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,619,358 (GRCm39) |
T16035P |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,668 (GRCm39) |
M548K |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,523 (GRCm39) |
E279V |
|
Het |
| Wfdc8 |
G |
A |
2: 164,447,769 (GRCm39) |
S97F |
probably benign |
Het |
| Wrn |
G |
A |
8: 33,826,041 (GRCm39) |
A207V |
probably null |
Het |
| Xrcc2 |
T |
C |
5: 25,897,217 (GRCm39) |
D244G |
possibly damaging |
Het |
| Zfp251 |
C |
T |
15: 76,737,413 (GRCm39) |
G560E |
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 |
|
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 |
|
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'- TGAAGACCTTGACAGAGAACAC -3'
(R):5'- GCTGCACTGACATGATAGCAAG -3'
Sequencing Primer
(F):5'- AGATGCCACTAATGTTTGTCTTC -3'
(R):5'- TGCACTGACATGATAGCAAGTGATAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation