Incidental Mutation 'R5058:Nrg1'
| ID |
391025 |
| 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 |
042648-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5058 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32314587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 142
(Q142R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208819]
[ENSMUST00000208617]
[ENSMUST00000209107]
[ENSMUST00000208488]
[ENSMUST00000208598]
[ENSMUST00000208497]
[ENSMUST00000208931]
[ENSMUST00000209022]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073884
AA Change: Q332R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: Q332R
| 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: Q269R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207470
AA Change: Q277R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208205
AA Change: Q272R
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208335
AA Change: Q142R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208355
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208819
AA Change: R270G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
AA Change: Q272R
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
AA Change: Q284R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
AA Change: Q295R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
AA Change: Q272R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
AA Change: Q332R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.2%
|
| Validation Efficiency |
100% (79/79) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
C |
8: 13,292,625 (GRCm39) |
Y222C |
probably damaging |
Het |
| Adprs |
A |
G |
4: 126,212,238 (GRCm39) |
S94P |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,863,510 (GRCm39) |
E202G |
probably benign |
Het |
| Cacna1d |
G |
T |
14: 29,836,201 (GRCm39) |
S849* |
probably null |
Het |
| Camsap1 |
T |
C |
2: 25,829,375 (GRCm39) |
D783G |
probably benign |
Het |
| Cbfa2t2 |
T |
A |
2: 154,346,665 (GRCm39) |
I124N |
probably damaging |
Het |
| Ccdc13 |
A |
T |
9: 121,646,613 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
G |
A |
16: 44,240,567 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,673,989 (GRCm39) |
E13* |
probably null |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dennd6b |
A |
G |
15: 89,071,553 (GRCm39) |
L288P |
possibly damaging |
Het |
| Dhx37 |
A |
C |
5: 125,499,295 (GRCm39) |
Y638D |
probably benign |
Het |
| Epb41 |
G |
A |
4: 131,734,746 (GRCm39) |
|
probably benign |
Het |
| Esp31 |
A |
T |
17: 38,955,500 (GRCm39) |
I48L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,154 (GRCm39) |
Q2616R |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,265,919 (GRCm39) |
I116T |
probably benign |
Het |
| Flnb |
G |
T |
14: 7,924,262 (GRCm38) |
E1792* |
probably null |
Het |
| Fzd2 |
G |
A |
11: 102,495,633 (GRCm39) |
G26R |
probably damaging |
Het |
| Gm11677 |
T |
A |
11: 111,616,264 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7137 |
A |
T |
10: 77,623,905 (GRCm39) |
|
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,063,648 (GRCm39) |
T252A |
possibly damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,484 (GRCm39) |
F433L |
probably damaging |
Het |
| Kcnmb4 |
T |
A |
10: 116,299,833 (GRCm39) |
|
probably benign |
Het |
| Meltf |
A |
G |
16: 31,706,421 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,230,491 (GRCm39) |
D1213G |
probably benign |
Het |
| Ncam1 |
A |
C |
9: 49,709,995 (GRCm39) |
F12C |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,713,582 (GRCm39) |
D120E |
probably benign |
Het |
| Or10c1 |
A |
G |
17: 37,522,558 (GRCm39) |
L62P |
probably damaging |
Het |
| Or1j18 |
T |
G |
2: 36,625,011 (GRCm39) |
L226R |
possibly damaging |
Het |
| Or2h15 |
G |
A |
17: 38,441,432 (GRCm39) |
S217F |
probably damaging |
Het |
| Or56a4 |
T |
C |
7: 104,806,355 (GRCm39) |
N178S |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,435 (GRCm39) |
T190A |
probably benign |
Het |
| Or8c10 |
C |
A |
9: 38,279,220 (GRCm39) |
T116K |
probably damaging |
Het |
| Or8g30 |
C |
A |
9: 39,229,960 (GRCm39) |
V317L |
probably benign |
Het |
| Or9s18 |
C |
A |
13: 65,300,743 (GRCm39) |
A235D |
possibly damaging |
Het |
| Padi2 |
G |
T |
4: 140,659,432 (GRCm39) |
V246L |
probably benign |
Het |
| Pgghg |
C |
T |
7: 140,522,455 (GRCm39) |
T63I |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,758 (GRCm39) |
N1117S |
probably benign |
Het |
| Plch1 |
G |
T |
3: 63,630,202 (GRCm39) |
T534K |
probably damaging |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Polr3c |
T |
C |
3: 96,630,833 (GRCm39) |
I196V |
probably benign |
Het |
| Prph |
A |
T |
15: 98,953,113 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
C |
A |
14: 12,037,387 (GRCm38) |
T189K |
possibly damaging |
Het |
| R3hcc1 |
A |
T |
14: 69,941,463 (GRCm39) |
I183N |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,316,363 (GRCm39) |
L145P |
probably benign |
Het |
| Slc26a3 |
A |
G |
12: 31,520,964 (GRCm39) |
K723E |
possibly damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,536,390 (GRCm39) |
E2G |
possibly damaging |
Het |
| Slc9a5 |
G |
T |
8: 106,082,490 (GRCm39) |
V252L |
probably benign |
Het |
| Smim26 |
C |
T |
2: 144,437,043 (GRCm39) |
T64M |
probably benign |
Het |
| Socs4 |
C |
T |
14: 47,527,589 (GRCm39) |
R175* |
probably null |
Het |
| Srebf2 |
T |
C |
15: 82,066,251 (GRCm39) |
S600P |
probably damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,705 (GRCm39) |
S115T |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,097,907 (GRCm39) |
D447G |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,896,591 (GRCm39) |
D766V |
probably damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,061,250 (GRCm39) |
V300A |
probably benign |
Het |
| Tle6 |
T |
A |
10: 81,430,072 (GRCm39) |
N332I |
possibly damaging |
Het |
| Tle6 |
C |
A |
10: 81,431,791 (GRCm39) |
W151L |
probably damaging |
Het |
| Tnfrsf13c |
C |
T |
15: 82,108,408 (GRCm39) |
V36M |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,016,295 (GRCm39) |
I211T |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,701,344 (GRCm39) |
N379D |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 101,738,316 (GRCm39) |
W433R |
probably damaging |
Het |
| Tyw1 |
T |
A |
5: 130,305,927 (GRCm39) |
L350Q |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,033,070 (GRCm39) |
L76P |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,423 (GRCm39) |
L274P |
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 |
|
|
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'- AACCAACTTCAGCGTGTCTG -3'
(R):5'- ATTGAAACCTGCGTTCTTGGG -3'
Sequencing Primer
(F):5'- TGTCTGAACAGCAAACGCATG -3'
(R):5'- GTGTGATACTGCTAATTCTGAGACAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation