Incidental Mutation 'IGL02108:Nmur2'
ID |
280032 |
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: 0.199)
|
Stock # |
IGL02108
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
55915816-55931813 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55931190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 174
(T174A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037682]
|
AlphaFold |
Q8BZ39 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037682
AA Change: T174A
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000044718 Gene: ENSMUSG00000037393 AA Change: T174A
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
T |
C |
8: 56,325,346 (GRCm39) |
I369M |
probably damaging |
Het |
Aff1 |
T |
G |
5: 103,958,975 (GRCm39) |
|
probably null |
Het |
Arid1a |
G |
T |
4: 133,407,827 (GRCm39) |
P2227T |
unknown |
Het |
Atp12a |
A |
T |
14: 56,621,525 (GRCm39) |
D720V |
possibly damaging |
Het |
Auh |
T |
C |
13: 53,043,133 (GRCm39) |
|
probably benign |
Het |
Bptf |
C |
A |
11: 106,965,814 (GRCm39) |
V1012L |
probably benign |
Het |
Cbr1 |
T |
C |
16: 93,407,087 (GRCm39) |
F268L |
probably benign |
Het |
Ccdc190 |
A |
G |
1: 169,761,555 (GRCm39) |
D219G |
probably damaging |
Het |
Ccnb1 |
C |
T |
13: 100,917,665 (GRCm39) |
|
probably null |
Het |
Cdh19 |
G |
T |
1: 110,817,461 (GRCm39) |
S760R |
probably benign |
Het |
Cecr2 |
G |
A |
6: 120,739,519 (GRCm39) |
|
probably null |
Het |
Chid1 |
A |
T |
7: 141,112,841 (GRCm39) |
M1K |
probably null |
Het |
Dzank1 |
T |
C |
2: 144,348,143 (GRCm39) |
T208A |
probably benign |
Het |
Ecm2 |
T |
A |
13: 49,671,920 (GRCm39) |
Y140* |
probably null |
Het |
Enox2 |
A |
G |
X: 48,102,393 (GRCm39) |
L533S |
possibly damaging |
Het |
Fntb |
A |
G |
12: 76,934,631 (GRCm39) |
E167G |
possibly damaging |
Het |
Gpihbp1 |
T |
C |
15: 75,469,461 (GRCm39) |
V92A |
probably benign |
Het |
Grsf1 |
C |
T |
5: 88,813,762 (GRCm39) |
R329Q |
probably benign |
Het |
Gtpbp4 |
T |
A |
13: 9,035,249 (GRCm39) |
D370V |
probably benign |
Het |
H2ac4 |
T |
C |
13: 23,935,207 (GRCm39) |
V31A |
probably benign |
Het |
Klhl14 |
T |
A |
18: 21,690,977 (GRCm39) |
Y491F |
probably damaging |
Het |
Lamb3 |
A |
T |
1: 193,014,530 (GRCm39) |
Q563L |
probably damaging |
Het |
Lcn2 |
A |
T |
2: 32,277,617 (GRCm39) |
L124Q |
probably damaging |
Het |
Mbl1 |
T |
C |
14: 40,875,608 (GRCm39) |
S21P |
possibly damaging |
Het |
Myrip |
G |
A |
9: 120,296,631 (GRCm39) |
|
probably null |
Het |
Odf1 |
C |
A |
15: 38,226,623 (GRCm39) |
Y174* |
probably null |
Het |
Optn |
A |
G |
2: 5,036,084 (GRCm39) |
V466A |
possibly damaging |
Het |
Or5m12 |
A |
T |
2: 85,734,494 (GRCm39) |
D301E |
possibly damaging |
Het |
Or8b9 |
T |
A |
9: 37,766,234 (GRCm39) |
V40E |
possibly damaging |
Het |
Or8g54 |
A |
T |
9: 39,706,808 (GRCm39) |
I46F |
probably damaging |
Het |
Pde9a |
G |
A |
17: 31,680,667 (GRCm39) |
S316N |
probably benign |
Het |
Phf3 |
A |
T |
1: 30,869,032 (GRCm39) |
I672K |
probably damaging |
Het |
Pklr |
A |
T |
3: 89,044,710 (GRCm39) |
I63F |
probably damaging |
Het |
Plet1 |
T |
C |
9: 50,410,387 (GRCm39) |
|
probably benign |
Het |
Pp2d1 |
T |
A |
17: 53,822,433 (GRCm39) |
D211V |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,542,494 (GRCm39) |
W384R |
probably damaging |
Het |
Prdm11 |
T |
C |
2: 92,806,048 (GRCm39) |
I301V |
probably damaging |
Het |
Prkar1a |
C |
T |
11: 109,558,351 (GRCm39) |
R357C |
probably damaging |
Het |
Ptchd1 |
T |
C |
X: 154,356,548 (GRCm39) |
T886A |
probably damaging |
Het |
Ptpre |
A |
T |
7: 135,260,831 (GRCm39) |
E156V |
possibly damaging |
Het |
Ptprq |
T |
C |
10: 107,482,478 (GRCm39) |
T1032A |
probably damaging |
Het |
Rras2 |
A |
G |
7: 113,659,623 (GRCm39) |
I47T |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Sh3rf3 |
T |
A |
10: 58,971,650 (GRCm39) |
V826E |
probably damaging |
Het |
Tmem127 |
T |
A |
2: 127,099,026 (GRCm39) |
S132T |
probably damaging |
Het |
Tnrc6c |
C |
A |
11: 117,612,025 (GRCm39) |
P221Q |
probably benign |
Het |
Tstd3 |
A |
T |
4: 21,759,366 (GRCm39) |
|
probably benign |
Het |
Usp46 |
T |
G |
5: 74,189,867 (GRCm39) |
T55P |
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 |
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 |
2015-04-16 |