Incidental Mutation 'IGL01591:Nmur2'
| ID |
91596 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nmur2
|
| Ensembl Gene |
ENSMUSG00000037393 |
| Gene Name |
neuromedin U receptor 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
IGL01591
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
55915816-55931813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55917825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 388
(V388A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037682]
|
| AlphaFold |
Q8BZ39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037682
AA Change: V388A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044718
Gene: ENSMUSG00000037393
AA Change: V388A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134285
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
G |
T |
11: 84,134,146 (GRCm39) |
G420W |
probably damaging |
Het |
| Adamts17 |
G |
A |
7: 66,654,144 (GRCm39) |
R458H |
probably damaging |
Het |
| Adprs |
T |
C |
4: 126,212,274 (GRCm39) |
T82A |
probably damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,809,900 (GRCm39) |
I203L |
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,096,735 (GRCm39) |
S47R |
probably benign |
Het |
| Crb1 |
T |
C |
1: 139,165,077 (GRCm39) |
T1016A |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,580,295 (GRCm39) |
I95F |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,812,291 (GRCm39) |
|
probably benign |
Het |
| Dsel |
A |
G |
1: 111,787,425 (GRCm39) |
Y1037H |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,337,485 (GRCm39) |
D898G |
probably damaging |
Het |
| Esr2 |
T |
A |
12: 76,168,498 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
A |
4: 148,647,344 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,064,524 (GRCm39) |
R4827* |
probably null |
Het |
| Gm11596 |
A |
T |
11: 99,683,624 (GRCm39) |
C165* |
probably null |
Het |
| Heatr5b |
A |
G |
17: 79,115,901 (GRCm39) |
S852P |
probably benign |
Het |
| Mcm3ap |
C |
T |
10: 76,306,639 (GRCm39) |
P251S |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,678,877 (GRCm39) |
T364A |
possibly damaging |
Het |
| Rarb |
T |
A |
14: 16,434,207 (GRCm38) |
I370F |
possibly damaging |
Het |
| Rnf32 |
T |
A |
5: 29,429,272 (GRCm39) |
I283N |
probably damaging |
Het |
| Smg8 |
A |
G |
11: 86,975,979 (GRCm39) |
V77A |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,953,144 (GRCm39) |
E632G |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,849,604 (GRCm39) |
S1487T |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,753 (GRCm39) |
K72R |
probably benign |
Het |
| Vmn2r92 |
A |
G |
17: 18,405,423 (GRCm39) |
I856V |
unknown |
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 |
|
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 |
|
R7580:Nmur2
|
UTSW |
11 |
55,917,808 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation