Incidental Mutation 'R5230:Nrg1'
| ID |
403718 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5230 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32308507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 503
(Y503F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000209107]
[ENSMUST00000208497]
[ENSMUST00000208598]
[ENSMUST00000208819]
[ENSMUST00000208617]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073884
AA Change: Y551F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: Y551F
| 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: Y488F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207470
AA Change: Y496F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208205
AA Change: Y491F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
AA Change: Y514F
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209107
AA Change: Y503F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,210,686 (GRCm39) |
D164E |
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,666,956 (GRCm39) |
D512G |
probably damaging |
Het |
| Ankrd11 |
G |
A |
8: 123,617,216 (GRCm39) |
T2191I |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,986,171 (GRCm39) |
F270S |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,092,770 (GRCm39) |
|
probably null |
Het |
| Ccdc142 |
T |
C |
6: 83,084,777 (GRCm39) |
V591A |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,716,776 (GRCm39) |
E1613K |
unknown |
Het |
| Dnah9 |
T |
A |
11: 65,975,492 (GRCm39) |
H1519L |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,511,673 (GRCm39) |
D498G |
possibly damaging |
Het |
| Enah |
A |
C |
1: 181,763,235 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,901,856 (GRCm39) |
N3056K |
possibly damaging |
Het |
| Gm4846 |
T |
A |
1: 166,317,748 (GRCm39) |
N223Y |
probably benign |
Het |
| Gm8104 |
A |
G |
14: 42,958,975 (GRCm39) |
N55S |
probably damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,370,404 (GRCm39) |
S1045P |
probably damaging |
Het |
| Haus4 |
A |
G |
14: 54,781,251 (GRCm39) |
M275T |
probably benign |
Het |
| Ighe |
T |
A |
12: 113,235,006 (GRCm39) |
T385S |
unknown |
Het |
| Ipo9 |
G |
A |
1: 135,347,808 (GRCm39) |
S78L |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,099,411 (GRCm39) |
V1473M |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,052,078 (GRCm39) |
Y345* |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,012,775 (GRCm39) |
T105A |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,922,599 (GRCm39) |
S441P |
probably benign |
Het |
| Med12l |
C |
T |
3: 59,153,209 (GRCm39) |
T1078I |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,801,026 (GRCm39) |
M242K |
possibly damaging |
Het |
| Morc2b |
A |
G |
17: 33,355,226 (GRCm39) |
Y849H |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,971,004 (GRCm39) |
V1003E |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,393,674 (GRCm39) |
M1135K |
possibly damaging |
Het |
| Nckap1l |
A |
T |
15: 103,392,066 (GRCm39) |
I834F |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,734 (GRCm39) |
I104N |
probably benign |
Het |
| Pcdhga2 |
T |
C |
18: 37,802,795 (GRCm39) |
V213A |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,390,119 (GRCm39) |
M826K |
probably damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Rnf38 |
T |
C |
4: 44,149,176 (GRCm39) |
Q57R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,618,157 (GRCm39) |
T219A |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,248 (GRCm39) |
N263K |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,667,316 (GRCm39) |
I791L |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,092,776 (GRCm39) |
C159R |
probably damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,824,315 (GRCm39) |
L859Q |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,306,239 (GRCm39) |
R63L |
probably damaging |
Het |
| Tex52 |
A |
G |
6: 128,361,779 (GRCm39) |
E252G |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,608 (GRCm39) |
I257V |
possibly damaging |
Het |
| Tpk1 |
A |
G |
6: 43,400,653 (GRCm39) |
L172P |
probably damaging |
Het |
| Trim3 |
T |
G |
7: 105,268,720 (GRCm39) |
N78T |
possibly damaging |
Het |
| Try5 |
A |
G |
6: 41,289,312 (GRCm39) |
V88A |
probably benign |
Het |
| Vmn1r222 |
T |
G |
13: 23,417,172 (GRCm39) |
M14L |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,074,277 (GRCm39) |
V678E |
probably benign |
Het |
| Zan |
A |
G |
5: 137,452,340 (GRCm39) |
L1543P |
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 |
|
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'- ACAGAACTTGGGTTGCTGTCC -3'
(R):5'- CACCTGTAGATTTCCACACGC -3'
Sequencing Primer
(F):5'- CAACCTATTGGCAATGTGGC -3'
(R):5'- TGTAGATTTCCACACGCCAAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation