Incidental Mutation 'R7580:Nmur2'
| ID |
586699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nmur2
|
| Ensembl Gene |
ENSMUSG00000037393 |
| Gene Name |
neuromedin U receptor 2 |
| Synonyms |
|
| MMRRC Submission |
045664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R7580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
55915816-55931813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55917808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 394
(V394I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037682]
|
| AlphaFold |
Q8BZ39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037682
AA Change: V394I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000044718
Gene: ENSMUSG00000037393
AA Change: V394I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srw
|
42 |
337 |
4.7e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
48 |
334 |
1.8e-13 |
PFAM |
|
Pfam:7tm_1
|
54 |
319 |
5.7e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit increased chemical and thermal nociception thresholds, insensitivity to treatment with Nmu or Nms, and altered weight gain following a fast or when fed a high-fat diet that can be sex-dependent. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
A |
13: 60,993,040 (GRCm39) |
Y213F |
probably damaging |
Het |
| Adamdec1 |
A |
G |
14: 68,802,980 (GRCm39) |
S462P |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 85,972,301 (GRCm39) |
C3S |
possibly damaging |
Het |
| Bag1 |
C |
T |
4: 40,947,836 (GRCm39) |
E123K |
probably benign |
Het |
| Brip1 |
A |
G |
11: 86,048,427 (GRCm39) |
L305P |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,206,700 (GRCm39) |
I382F |
possibly damaging |
Het |
| Cfap52 |
T |
A |
11: 67,837,146 (GRCm39) |
K205I |
probably damaging |
Het |
| Cmtr2 |
T |
A |
8: 110,948,309 (GRCm39) |
N206K |
probably damaging |
Het |
| Defb34 |
G |
A |
8: 19,176,426 (GRCm39) |
C39Y |
possibly damaging |
Het |
| Dennd3 |
T |
C |
15: 73,428,296 (GRCm39) |
S881P |
possibly damaging |
Het |
| Dglucy |
C |
T |
12: 100,816,423 (GRCm39) |
A325V |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,994,077 (GRCm39) |
E3398G |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,183,130 (GRCm39) |
I96K |
probably damaging |
Het |
| Endov |
C |
T |
11: 119,390,692 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
A |
T |
15: 58,430,245 (GRCm39) |
Q224L |
probably benign |
Het |
| Fmo2 |
T |
C |
1: 162,704,613 (GRCm39) |
N431S |
possibly damaging |
Het |
| Gata3 |
A |
C |
2: 9,867,943 (GRCm39) |
V337G |
probably damaging |
Het |
| Gtse1 |
G |
A |
15: 85,746,432 (GRCm39) |
V83M |
probably damaging |
Het |
| Hgd |
C |
A |
16: 37,439,241 (GRCm39) |
P224H |
possibly damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,908,374 (GRCm39) |
V330A |
probably damaging |
Het |
| Kiz |
C |
G |
2: 146,798,169 (GRCm39) |
I631M |
probably damaging |
Het |
| Klhl18 |
T |
C |
9: 110,265,118 (GRCm39) |
D366G |
probably benign |
Het |
| Lrmda |
C |
T |
14: 22,069,925 (GRCm39) |
|
probably benign |
Het |
| Mc1r |
G |
T |
8: 124,134,906 (GRCm39) |
A220S |
probably damaging |
Het |
| Megf6 |
T |
A |
4: 154,355,201 (GRCm39) |
C1505* |
probably null |
Het |
| Mmp20 |
C |
T |
9: 7,654,144 (GRCm39) |
R355* |
probably null |
Het |
| Mmp28 |
T |
A |
11: 83,335,658 (GRCm39) |
Q280L |
probably damaging |
Het |
| Mppe1 |
C |
T |
18: 67,370,488 (GRCm39) |
A70T |
probably damaging |
Het |
| Mtif3 |
T |
G |
5: 146,895,757 (GRCm39) |
D110A |
possibly damaging |
Het |
| Mtss2 |
G |
A |
8: 111,464,268 (GRCm39) |
R361H |
possibly damaging |
Het |
| Mvp |
T |
C |
7: 126,591,483 (GRCm39) |
D542G |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,133,174 (GRCm39) |
C940R |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,965,624 (GRCm39) |
H1736R |
probably benign |
Het |
| Or2n1c |
T |
C |
17: 38,519,934 (GRCm39) |
I266T |
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,827,611 (GRCm39) |
F182Y |
unknown |
Het |
| Purg |
A |
G |
8: 33,906,661 (GRCm39) |
Y317C |
possibly damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,765,013 (GRCm39) |
M880L |
probably benign |
Het |
| Rap1gap |
T |
C |
4: 137,447,293 (GRCm39) |
F413L |
possibly damaging |
Het |
| Sart3 |
A |
T |
5: 113,892,440 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
G |
A |
16: 90,026,740 (GRCm39) |
Q1026* |
probably null |
Het |
| Slc26a1 |
A |
G |
5: 108,819,735 (GRCm39) |
L504P |
probably damaging |
Het |
| Slc35d1 |
C |
A |
4: 103,065,330 (GRCm39) |
V184L |
|
Het |
| Slc5a11 |
C |
T |
7: 122,864,421 (GRCm39) |
A339V |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,705,028 (GRCm39) |
M1780K |
probably benign |
Het |
| Tas1r2 |
G |
A |
4: 139,387,056 (GRCm39) |
D172N |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,188,243 (GRCm39) |
I896M |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,624,752 (GRCm39) |
P1733S |
probably damaging |
Het |
| Thoc1 |
A |
T |
18: 9,986,343 (GRCm39) |
K358N |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
A |
C |
15: 88,818,132 (GRCm39) |
L181R |
probably damaging |
Het |
| Ubl4b |
G |
A |
3: 107,461,784 (GRCm39) |
Q159* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,893,732 (GRCm39) |
H967R |
not run |
Het |
| Zeb2 |
T |
C |
2: 44,884,544 (GRCm39) |
D1049G |
probably damaging |
Het |
|
| Other mutations in Nmur2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Nmur2
|
APN |
11 |
55,931,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01591:Nmur2
|
APN |
11 |
55,917,825 (GRCm39) |
missense |
probably benign |
|
|
IGL01960:Nmur2
|
APN |
11 |
55,931,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02108:Nmur2
|
APN |
11 |
55,931,190 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02602:Nmur2
|
APN |
11 |
55,917,889 (GRCm39) |
missense |
probably benign |
0.19 |
|
PIT4677001:Nmur2
|
UTSW |
11 |
55,923,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0324:Nmur2
|
UTSW |
11 |
55,931,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Nmur2
|
UTSW |
11 |
55,931,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0718:Nmur2
|
UTSW |
11 |
55,920,324 (GRCm39) |
splice site |
probably benign |
|
|
R1799:Nmur2
|
UTSW |
11 |
55,920,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Nmur2
|
UTSW |
11 |
55,931,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2263:Nmur2
|
UTSW |
11 |
55,920,387 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3701:Nmur2
|
UTSW |
11 |
55,931,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3705:Nmur2
|
UTSW |
11 |
55,931,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3951:Nmur2
|
UTSW |
11 |
55,931,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4083:Nmur2
|
UTSW |
11 |
55,931,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4744:Nmur2
|
UTSW |
11 |
55,931,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4747:Nmur2
|
UTSW |
11 |
55,931,105 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5288:Nmur2
|
UTSW |
11 |
55,931,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Nmur2
|
UTSW |
11 |
55,931,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Nmur2
|
UTSW |
11 |
55,923,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6329:Nmur2
|
UTSW |
11 |
55,920,411 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6477:Nmur2
|
UTSW |
11 |
55,920,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7445:Nmur2
|
UTSW |
11 |
55,923,766 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7899:Nmur2
|
UTSW |
11 |
55,931,161 (GRCm39) |
missense |
probably benign |
|
|
R8688:Nmur2
|
UTSW |
11 |
55,931,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Nmur2
|
UTSW |
11 |
55,931,308 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9098:Nmur2
|
UTSW |
11 |
55,920,408 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9271:Nmur2
|
UTSW |
11 |
55,931,308 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9542:Nmur2
|
UTSW |
11 |
55,931,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0062:Nmur2
|
UTSW |
11 |
55,931,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Nmur2
|
UTSW |
11 |
55,917,927 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1186:Nmur2
|
UTSW |
11 |
55,931,104 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Nmur2
|
UTSW |
11 |
55,931,104 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Nmur2
|
UTSW |
11 |
55,931,104 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Nmur2
|
UTSW |
11 |
55,931,104 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Nmur2
|
UTSW |
11 |
55,931,104 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Nmur2
|
UTSW |
11 |
55,931,104 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Nmur2
|
UTSW |
11 |
55,931,104 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGGAGTGTAATGTCTGCGC -3'
(R):5'- TCTCCTTCCTGCAAATGGTG -3'
Sequencing Primer
(F):5'- ACCCAGAGCGAAGTCTGAGTTTC -3'
(R):5'- ATGGTGCCATCCCCAGCATC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation