Incidental Mutation 'R6170:Nrg1'
| ID |
490384 |
| 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 |
044431-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6170 (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 G
at 32308508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 503
(Y503H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000209107]
[ENSMUST00000208497]
[ENSMUST00000208617]
[ENSMUST00000208598]
[ENSMUST00000208819]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073884
AA Change: Y551H
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: Y551H
| 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: Y488H
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207470
AA Change: Y496H
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207678
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208205
AA Change: Y491H
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208488
AA Change: Y514H
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209107
AA Change: Y503H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (68/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
A |
6: 72,325,555 (GRCm39) |
S90R |
probably benign |
Het |
| 4930523C07Rik |
C |
A |
1: 159,902,743 (GRCm39) |
N4K |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,528,645 (GRCm39) |
S1167P |
probably damaging |
Het |
| Akr1e1 |
T |
C |
13: 4,652,723 (GRCm39) |
D94G |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,279,793 (GRCm39) |
N466D |
probably benign |
Het |
| Atp9b |
T |
A |
18: 80,920,562 (GRCm39) |
I231L |
probably benign |
Het |
| Bpifb3 |
T |
A |
2: 153,761,557 (GRCm39) |
M2K |
unknown |
Het |
| Btbd3 |
T |
C |
2: 138,120,862 (GRCm39) |
L12P |
probably damaging |
Het |
| Btnl6 |
T |
A |
17: 34,734,480 (GRCm39) |
Y94F |
probably damaging |
Het |
| Cab39 |
T |
A |
1: 85,746,176 (GRCm39) |
L19* |
probably null |
Het |
| Cacna2d2 |
A |
G |
9: 107,404,533 (GRCm39) |
D1114G |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,776,216 (GRCm39) |
|
probably null |
Het |
| Cdh11 |
A |
G |
8: 103,361,442 (GRCm39) |
V632A |
probably benign |
Het |
| Cemip |
T |
G |
7: 83,596,438 (GRCm39) |
T1109P |
possibly damaging |
Het |
| Col7a1 |
C |
A |
9: 108,795,511 (GRCm39) |
P1522Q |
unknown |
Het |
| Colgalt1 |
C |
T |
8: 72,074,514 (GRCm39) |
L409F |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,166,907 (GRCm39) |
M125V |
probably benign |
Het |
| Cyp2b19 |
T |
G |
7: 26,458,519 (GRCm39) |
M78R |
possibly damaging |
Het |
| Cyp4a12a |
A |
C |
4: 115,184,643 (GRCm39) |
D308A |
possibly damaging |
Het |
| D16Ertd472e |
T |
C |
16: 78,342,155 (GRCm39) |
T242A |
probably benign |
Het |
| Ddah1 |
A |
G |
3: 145,597,261 (GRCm39) |
D166G |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,854,795 (GRCm39) |
D60G |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,469,043 (GRCm39) |
D607V |
probably damaging |
Het |
| Ebf1 |
T |
A |
11: 44,774,712 (GRCm39) |
N236K |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,093,689 (GRCm39) |
T600A |
probably benign |
Het |
| Fbxo33 |
T |
C |
12: 59,251,435 (GRCm39) |
N360S |
probably benign |
Het |
| Fbxw5 |
A |
G |
2: 25,393,615 (GRCm39) |
D72G |
possibly damaging |
Het |
| Fhad1 |
T |
A |
4: 141,618,263 (GRCm39) |
K1388* |
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,523,004 (GRCm39) |
M296V |
probably benign |
Het |
| Gdpd3 |
T |
C |
7: 126,370,336 (GRCm39) |
I257T |
probably benign |
Het |
| Glt28d2 |
T |
G |
3: 85,779,248 (GRCm39) |
D75A |
possibly damaging |
Het |
| Gm14295 |
G |
A |
2: 176,502,937 (GRCm39) |
|
probably benign |
Het |
| Gm28729 |
A |
G |
9: 96,401,494 (GRCm39) |
I98T |
probably damaging |
Het |
| Gm4924 |
C |
T |
10: 82,213,065 (GRCm39) |
Q288* |
probably null |
Het |
| Gpr150 |
T |
C |
13: 76,204,676 (GRCm39) |
M90V |
probably damaging |
Het |
| Ireb2 |
G |
A |
9: 54,794,656 (GRCm39) |
V331I |
probably benign |
Het |
| Lpcat2b |
A |
T |
5: 107,581,760 (GRCm39) |
Y363F |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,918,852 (GRCm39) |
I410V |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,537 (GRCm39) |
E58G |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,523,671 (GRCm39) |
D603V |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,046,905 (GRCm39) |
Y1149F |
probably damaging |
Het |
| Nxpe4 |
C |
T |
9: 48,304,104 (GRCm39) |
P64S |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,349,811 (GRCm39) |
T219S |
unknown |
Het |
| Plagl1 |
T |
C |
10: 13,002,975 (GRCm39) |
L81P |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,311,042 (GRCm39) |
V481A |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,866,174 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Potefam1 |
A |
G |
2: 111,058,293 (GRCm39) |
Y167H |
probably benign |
Het |
| Ppargc1a |
C |
A |
5: 51,631,253 (GRCm39) |
A459S |
probably damaging |
Het |
| Ppp1r13l |
A |
G |
7: 19,104,362 (GRCm39) |
D253G |
probably benign |
Het |
| Prl2c2 |
T |
A |
13: 13,176,757 (GRCm39) |
N55Y |
probably damaging |
Het |
| Prlr |
T |
C |
15: 10,328,935 (GRCm39) |
F470S |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 104,004,500 (GRCm39) |
D44G |
probably benign |
Het |
| Sfxn1 |
T |
G |
13: 54,260,526 (GRCm39) |
S291R |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,446 (GRCm39) |
D224G |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,784,392 (GRCm39) |
F123S |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,849,345 (GRCm39) |
V937A |
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,645,055 (GRCm39) |
M802L |
probably benign |
Het |
| Tmem150a |
G |
A |
6: 72,333,728 (GRCm39) |
R30H |
probably benign |
Het |
| Tmem210 |
G |
A |
2: 25,178,776 (GRCm39) |
|
probably null |
Het |
| Tor3a |
T |
C |
1: 156,484,143 (GRCm39) |
N269S |
possibly damaging |
Het |
| Trp63 |
A |
C |
16: 25,703,603 (GRCm39) |
N423T |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,045 (GRCm39) |
I86V |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,348 (GRCm39) |
I333V |
probably benign |
Het |
| Vwa7 |
C |
A |
17: 35,240,186 (GRCm39) |
H385N |
possibly damaging |
Het |
| Wdr1 |
T |
C |
5: 38,687,014 (GRCm39) |
|
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,381,661 (GRCm39) |
Y57H |
probably damaging |
Het |
| Zbtb44 |
T |
A |
9: 30,964,678 (GRCm39) |
H29Q |
probably damaging |
Het |
| Zfp532 |
T |
A |
18: 65,757,509 (GRCm39) |
S481T |
probably damaging |
Het |
| Zfp955b |
G |
T |
17: 33,521,084 (GRCm39) |
R184S |
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 |
|
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 |
2017-10-10 |
Incidental Mutation