Incidental Mutation 'PIT4677001:Nmur2'
ID |
556567 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4677001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
55915816-55931813 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55923835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 240
(S240T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037682]
|
AlphaFold |
Q8BZ39 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037682
AA Change: S240T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000044718 Gene: ENSMUSG00000037393 AA Change: S240T
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 |
- 1x: 93.3%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 71.0%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
T |
A |
2: 127,028,933 (GRCm39) |
T89S |
probably benign |
Het |
4921517D22Rik |
A |
T |
13: 59,838,305 (GRCm39) |
F176I |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,374,340 (GRCm39) |
D264G |
probably damaging |
Het |
Adamts12 |
T |
A |
15: 11,286,896 (GRCm39) |
F834I |
probably benign |
Het |
Arhgap45 |
A |
T |
10: 79,856,583 (GRCm39) |
M171L |
probably benign |
Het |
Arid5b |
A |
T |
10: 67,933,841 (GRCm39) |
M687K |
probably damaging |
Het |
AU040320 |
A |
T |
4: 126,686,030 (GRCm39) |
Q202L |
probably benign |
Het |
Ccdc47 |
A |
G |
11: 106,099,034 (GRCm39) |
L219P |
probably damaging |
Het |
Cfhr2 |
T |
G |
1: 139,733,117 (GRCm39) |
S301R |
unknown |
Het |
Cog2 |
T |
A |
8: 125,272,010 (GRCm39) |
V508E |
probably benign |
Het |
Cpb2 |
A |
G |
14: 75,493,463 (GRCm39) |
T47A |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,425,288 (GRCm39) |
K692I |
possibly damaging |
Het |
Defb34 |
A |
T |
8: 19,176,412 (GRCm39) |
R34S |
possibly damaging |
Het |
Fads2 |
A |
T |
19: 10,047,694 (GRCm39) |
I275N |
probably damaging |
Het |
Fmn2 |
T |
G |
1: 174,474,699 (GRCm39) |
S1221A |
probably damaging |
Het |
Fndc3a |
A |
T |
14: 72,812,035 (GRCm39) |
V302E |
probably benign |
Het |
Galntl6 |
C |
T |
8: 58,310,621 (GRCm39) |
C360Y |
probably damaging |
Het |
Gm16519 |
A |
T |
17: 71,236,506 (GRCm39) |
I152F |
probably benign |
Het |
Hnrnpr |
T |
A |
4: 136,056,750 (GRCm39) |
V250D |
probably damaging |
Het |
Hs3st6 |
A |
G |
17: 24,977,285 (GRCm39) |
D255G |
possibly damaging |
Het |
Ift70a1 |
A |
G |
2: 75,810,113 (GRCm39) |
Y657H |
possibly damaging |
Het |
Ino80 |
C |
T |
2: 119,208,026 (GRCm39) |
V1422M |
probably benign |
Het |
Insyn2b |
A |
T |
11: 34,353,122 (GRCm39) |
N388I |
probably benign |
Het |
Kcnu1 |
A |
G |
8: 26,396,021 (GRCm39) |
I669V |
probably benign |
Het |
Layn |
A |
T |
9: 50,968,711 (GRCm39) |
V344E |
probably damaging |
Het |
Mgll |
A |
T |
6: 88,802,663 (GRCm39) |
R273W |
possibly damaging |
Het |
Myh2 |
G |
A |
11: 67,072,818 (GRCm39) |
S636N |
probably benign |
Het |
Pkd1 |
T |
G |
17: 24,793,003 (GRCm39) |
S1563R |
possibly damaging |
Het |
Ppp4r3b |
G |
A |
11: 29,137,978 (GRCm39) |
V109I |
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,861,648 (GRCm39) |
D547E |
probably damaging |
Het |
Prss46 |
A |
T |
9: 110,685,098 (GRCm39) |
M241L |
probably benign |
Het |
Ptprf |
T |
A |
4: 118,070,809 (GRCm39) |
I1397F |
probably damaging |
Het |
Pus10 |
A |
T |
11: 23,670,171 (GRCm39) |
T418S |
possibly damaging |
Het |
Qsox2 |
T |
C |
2: 26,112,320 (GRCm39) |
D74G |
probably damaging |
Het |
Sctr |
T |
C |
1: 119,989,634 (GRCm39) |
V383A |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,914,677 (GRCm39) |
N1480Y |
probably damaging |
Het |
Skint2 |
T |
C |
4: 112,483,135 (GRCm39) |
I180T |
probably benign |
Het |
Snd1 |
A |
G |
6: 28,880,295 (GRCm39) |
I690V |
probably benign |
Het |
Spire1 |
T |
C |
18: 67,624,435 (GRCm39) |
T575A |
probably damaging |
Het |
Srbd1 |
G |
A |
17: 86,422,640 (GRCm39) |
R459* |
probably null |
Het |
Tll2 |
C |
A |
19: 41,118,997 (GRCm39) |
V244L |
probably benign |
Het |
Tmem60 |
A |
G |
5: 21,091,366 (GRCm39) |
I44V |
probably benign |
Het |
Utrn |
T |
A |
10: 12,542,448 (GRCm39) |
I1846F |
probably benign |
Het |
Vinac1 |
T |
C |
2: 128,880,636 (GRCm39) |
D430G |
|
Het |
Vps8 |
T |
C |
16: 21,319,084 (GRCm39) |
F641S |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCACCATTACGTCAGTACC -3'
(R):5'- ACCCTATCCAGAGAACTTAGACTG -3'
Sequencing Primer
(F):5'- GCACCATTACGTCAGTACCAAAGAC -3'
(R):5'- GACTGAATTCTGCCTCCAGTGAAG -3'
|
Posted On |
2019-06-07 |