Incidental Mutation 'R2099:Nmur2'
ID |
233255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nmur2
|
Ensembl Gene |
ENSMUSG00000037393 |
Gene Name |
neuromedin U receptor 2 |
Synonyms |
|
MMRRC Submission |
040103-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.199)
|
Stock # |
R2099 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
55915816-55931813 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55931589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 41
(S41T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037682]
|
AlphaFold |
Q8BZ39 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037682
AA Change: S41T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000044718 Gene: ENSMUSG00000037393 AA Change: S41T
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: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,817,820 (GRCm39) |
R14Q |
unknown |
Het |
Aga |
C |
A |
8: 53,974,166 (GRCm39) |
Y286* |
probably null |
Het |
Anks1 |
T |
C |
17: 28,197,465 (GRCm39) |
|
probably null |
Het |
Arih2 |
A |
T |
9: 108,493,937 (GRCm39) |
F159I |
probably damaging |
Het |
Asxl1 |
A |
T |
2: 153,194,187 (GRCm39) |
M46L |
possibly damaging |
Het |
Atp23 |
G |
T |
10: 126,727,595 (GRCm39) |
|
probably null |
Het |
Carmil1 |
T |
A |
13: 24,357,650 (GRCm39) |
L66F |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Cramp1 |
A |
G |
17: 25,192,059 (GRCm39) |
V1027A |
probably benign |
Het |
Cx3cr1 |
G |
A |
9: 119,881,339 (GRCm39) |
A21V |
probably benign |
Het |
Dcxr |
A |
G |
11: 120,616,403 (GRCm39) |
F221S |
probably damaging |
Het |
Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
Dnah2 |
T |
C |
11: 69,384,063 (GRCm39) |
D1051G |
probably damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,768,429 (GRCm39) |
E958G |
possibly damaging |
Het |
Eif3a |
C |
A |
19: 60,752,551 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,388,066 (GRCm39) |
D678G |
probably damaging |
Het |
Fpr3 |
G |
T |
17: 18,191,443 (GRCm39) |
R238L |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,342,488 (GRCm39) |
S1594G |
probably benign |
Het |
Gbp4 |
A |
C |
5: 105,268,947 (GRCm39) |
L402W |
probably damaging |
Het |
Gdpd5 |
T |
A |
7: 99,097,696 (GRCm39) |
L164Q |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,487,616 (GRCm39) |
|
probably null |
Het |
Kcp |
G |
T |
6: 29,496,164 (GRCm39) |
C723* |
probably null |
Het |
Klhl18 |
A |
G |
9: 110,284,486 (GRCm39) |
F2L |
probably damaging |
Het |
Lepr |
T |
A |
4: 101,630,185 (GRCm39) |
D633E |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,186,732 (GRCm39) |
I79V |
probably benign |
Het |
Mcrs1 |
A |
G |
15: 99,147,827 (GRCm39) |
S27P |
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,453,672 (GRCm39) |
D431G |
probably benign |
Het |
Mtor |
T |
A |
4: 148,634,649 (GRCm39) |
Y2423* |
probably null |
Het |
Ndc80 |
A |
T |
17: 71,811,773 (GRCm39) |
D484E |
probably benign |
Het |
Ndufb8 |
T |
A |
19: 44,543,749 (GRCm39) |
|
probably benign |
Het |
Notch2 |
T |
C |
3: 98,022,637 (GRCm39) |
C819R |
possibly damaging |
Het |
Or10d3 |
A |
G |
9: 39,461,963 (GRCm39) |
V68A |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,177 (GRCm39) |
I298T |
probably benign |
Het |
Or6c35 |
A |
T |
10: 129,169,152 (GRCm39) |
N134I |
probably damaging |
Het |
Pheta1 |
C |
T |
5: 121,991,349 (GRCm39) |
P237L |
possibly damaging |
Het |
Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
Samd7 |
T |
C |
3: 30,810,709 (GRCm39) |
V242A |
probably benign |
Het |
Sde2 |
T |
C |
1: 180,693,713 (GRCm39) |
L401P |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,049,758 (GRCm39) |
D340G |
probably benign |
Het |
Slc2a5 |
T |
A |
4: 150,227,634 (GRCm39) |
Y484* |
probably null |
Het |
Spata31d1a |
A |
G |
13: 59,853,885 (GRCm39) |
L27P |
probably damaging |
Het |
Sqstm1 |
T |
C |
11: 50,093,811 (GRCm39) |
T269A |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,026,747 (GRCm39) |
V3525A |
probably benign |
Het |
Tctn1 |
G |
A |
5: 122,380,772 (GRCm39) |
P512L |
probably damaging |
Het |
Tlr1 |
A |
G |
5: 65,082,411 (GRCm39) |
F722S |
probably damaging |
Het |
Treh |
A |
G |
9: 44,595,943 (GRCm39) |
Y376C |
probably damaging |
Het |
Trim47 |
T |
C |
11: 115,997,170 (GRCm39) |
N529S |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,719,049 (GRCm39) |
V184A |
possibly damaging |
Het |
Tyrp1 |
T |
A |
4: 80,753,616 (GRCm39) |
N102K |
possibly damaging |
Het |
Uspl1 |
T |
A |
5: 149,151,568 (GRCm39) |
S724T |
probably damaging |
Het |
Vmn2r2 |
C |
A |
3: 64,024,474 (GRCm39) |
K702N |
probably damaging |
Het |
Zfp267 |
C |
T |
3: 36,218,361 (GRCm39) |
T128I |
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 |
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 |
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'- TCTTGAAGTAGCATCCCACCG -3'
(R):5'- TTGAGACAGAGCCTCAAGAGC -3'
Sequencing Primer
(F):5'- GGATAATTGTGCCACAACTCG -3'
(R):5'- GCCTCAAGAGCAAGGGATAC -3'
|
Posted On |
2014-09-18 |