Incidental Mutation 'R1642:Nrg1'
| ID |
173604 |
| 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 |
039678-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1642 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32314536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 289
(M289K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208598]
[ENSMUST00000208497]
[ENSMUST00000208819]
[ENSMUST00000208488]
[ENSMUST00000208617]
[ENSMUST00000209107]
[ENSMUST00000208931]
[ENSMUST00000209022]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073884
AA Change: M349K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: M349K
| 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: M286K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207470
AA Change: M294K
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208205
AA Change: M289K
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208335
AA Change: M159K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
AA Change: M289K
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
AA Change: M349K
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208819
AA Change: W287R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
AA Change: M312K
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
AA Change: M289K
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
AA Change: M301K
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.7%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
G |
10: 28,862,233 (GRCm39) |
V19A |
probably benign |
Het |
| 6820408C15Rik |
T |
C |
2: 152,282,774 (GRCm39) |
Y210H |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,769,882 (GRCm39) |
I327N |
possibly damaging |
Het |
| Abca6 |
T |
A |
11: 110,109,107 (GRCm39) |
N688Y |
possibly damaging |
Het |
| Ablim3 |
T |
C |
18: 61,947,382 (GRCm39) |
K457R |
probably benign |
Het |
| Acsm2 |
A |
T |
7: 119,162,860 (GRCm39) |
N45Y |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,373,917 (GRCm39) |
S108P |
probably damaging |
Het |
| Akr1cl |
A |
T |
1: 65,060,588 (GRCm39) |
M174K |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,867 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
G |
A |
2: 143,683,683 (GRCm39) |
R214W |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,343 (GRCm39) |
D183G |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,532,107 (GRCm39) |
D566G |
possibly damaging |
Het |
| Colgalt1 |
A |
G |
8: 72,073,401 (GRCm39) |
I341V |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,390,153 (GRCm39) |
D349V |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,406,399 (GRCm39) |
I18F |
unknown |
Het |
| Degs2 |
C |
T |
12: 108,658,451 (GRCm39) |
C176Y |
probably benign |
Het |
| Dhx16 |
A |
T |
17: 36,201,957 (GRCm39) |
T995S |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,679,415 (GRCm39) |
C521S |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,559,203 (GRCm39) |
S532P |
probably benign |
Het |
| Dpysl4 |
T |
G |
7: 138,670,254 (GRCm39) |
M124R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,727,001 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
A |
T |
1: 68,370,393 (GRCm39) |
V395D |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,406 (GRCm39) |
D460G |
possibly damaging |
Het |
| F830045P16Rik |
G |
A |
2: 129,305,634 (GRCm39) |
H247Y |
probably benign |
Het |
| Fsbp |
T |
A |
4: 11,583,965 (GRCm39) |
S221R |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,317,929 (GRCm39) |
N198K |
possibly damaging |
Het |
| Gemin5 |
G |
T |
11: 58,029,906 (GRCm39) |
H855Q |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 98,873,535 (GRCm39) |
E103G |
probably benign |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,708,471 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
C |
A |
5: 24,757,686 (GRCm39) |
R177L |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,898,183 (GRCm39) |
R1646W |
probably damaging |
Het |
| Klri2 |
A |
T |
6: 129,715,837 (GRCm39) |
C121S |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,806,008 (GRCm39) |
Y703C |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,788 (GRCm39) |
N154S |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,317 (GRCm39) |
F812L |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,380,010 (GRCm39) |
Y1564C |
probably damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,794,485 (GRCm39) |
M23V |
probably benign |
Het |
| Nnt |
A |
G |
13: 119,541,086 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
G |
C |
19: 46,067,461 (GRCm39) |
|
probably null |
Het |
| Oas3 |
G |
T |
5: 120,915,639 (GRCm39) |
H17Q |
possibly damaging |
Het |
| Or10h1 |
A |
G |
17: 33,418,430 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2z2 |
A |
G |
11: 58,346,664 (GRCm39) |
I37T |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,201 (GRCm39) |
K6E |
probably benign |
Het |
| Or8g36 |
C |
T |
9: 39,422,650 (GRCm39) |
R122H |
possibly damaging |
Het |
| Parp9 |
T |
C |
16: 35,788,067 (GRCm39) |
Y612H |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,332,283 (GRCm39) |
M240K |
possibly damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,533,987 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
A |
G |
10: 79,366,518 (GRCm39) |
V42A |
probably damaging |
Het |
| Ppic |
C |
T |
18: 53,540,134 (GRCm39) |
V172M |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,150 (GRCm39) |
|
silent |
Het |
| Prop1 |
A |
G |
11: 50,844,152 (GRCm39) |
V27A |
possibly damaging |
Het |
| Psmc5 |
A |
G |
11: 106,153,242 (GRCm39) |
T295A |
probably benign |
Het |
| Rpa1 |
A |
G |
11: 75,203,517 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
G |
19: 41,860,176 (GRCm39) |
F1016L |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,514,041 (GRCm39) |
I242F |
probably damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,032,160 (GRCm39) |
H655L |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,298,694 (GRCm39) |
I1071T |
possibly damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,659 (GRCm39) |
D392G |
probably damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
T |
A |
2: 129,889,702 (GRCm39) |
V632E |
probably damaging |
Het |
| Triobp |
C |
A |
15: 78,886,348 (GRCm39) |
R1830S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,329 (GRCm39) |
T1266A |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,880,930 (GRCm39) |
I285V |
possibly 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 |
|
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 |
|
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'- AATGCCACAGTGTAAGGGACCGTG -3'
(R):5'- GTGAGAGCCTCAGGTTGTTCATCAG -3'
Sequencing Primer
(F):5'- TGTGGAAGGCCACTATGC -3'
(R):5'- CAGGTTGTTCATCAGTGTTAATAGAC -3'
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| Posted On |
2014-04-24 |
Incidental Mutation