Incidental Mutation 'R2443:Npy5r'
| ID |
249873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npy5r
|
| Ensembl Gene |
ENSMUSG00000044014 |
| Gene Name |
neuropeptide Y receptor Y5 |
| Synonyms |
Y5R |
| MMRRC Submission |
040401-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R2443 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
67132617-67140746 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 67133942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 284
(K284*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070810]
[ENSMUST00000211920]
[ENSMUST00000212563]
|
| AlphaFold |
O70342 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070810
AA Change: K284*
|
| SMART Domains |
Protein: ENSMUSP00000065157
Gene: ENSMUSG00000044014
AA Change: K284*
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
15 |
36 |
1.53e-7 |
PROSPERO |
|
internal_repeat_1
|
36 |
57 |
1.53e-7 |
PROSPERO |
|
Pfam:7TM_GPCR_Srsx
|
73 |
253 |
1.9e-10 |
PFAM |
|
Pfam:7tm_1
|
79 |
445 |
2.9e-48 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211920
AA Change: K284*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212563
AA Change: K284*
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for neuropeptide Y and peptide YY. The encoded protein appears to be involved in regulating food intake, with defects in this gene being associated with eating disorders. Also, the encoded protein is involved in a pathway that protects neuroblastoma cells from chemotherapy-induced cell death, providing a possible therapeutic target against neuroblastoma. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes for a null allele show increased susceptibility to diet-induced obesity and a reduced orexigenic response to select agonists. Homozygotes for a reporter allele show mild late-onset obesity, increased adiposity, polyphagia, and exacerbated obesity parameters after chronic NPY infusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc13 |
C |
T |
9: 102,511,222 (GRCm39) |
P37S |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,544,596 (GRCm39) |
D39E |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,123,094 (GRCm39) |
Y645H |
probably damaging |
Het |
| Clec4d |
G |
A |
6: 123,245,076 (GRCm39) |
V119M |
probably benign |
Het |
| Dennd11 |
T |
C |
6: 40,383,710 (GRCm39) |
D444G |
probably damaging |
Het |
| Dlx2 |
A |
G |
2: 71,376,349 (GRCm39) |
S130P |
probably benign |
Het |
| Dync2li1 |
C |
A |
17: 84,955,093 (GRCm39) |
Q251K |
probably benign |
Het |
| Edem1 |
A |
T |
6: 108,828,230 (GRCm39) |
K518N |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,388,665 (GRCm39) |
N239K |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,236,693 (GRCm39) |
V736A |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,935,848 (GRCm39) |
K25R |
probably benign |
Het |
| Hmcn1 |
C |
A |
1: 150,474,783 (GRCm39) |
R4701S |
probably benign |
Het |
| Ighv8-5 |
G |
A |
12: 115,031,440 (GRCm39) |
P33L |
probably damaging |
Het |
| Kcnip3 |
T |
A |
2: 127,301,983 (GRCm39) |
I194F |
probably damaging |
Het |
| Kif26b |
A |
C |
1: 178,742,579 (GRCm39) |
I892L |
probably damaging |
Het |
| Krt78 |
C |
T |
15: 101,855,033 (GRCm39) |
G926E |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,566,919 (GRCm39) |
Y1934C |
unknown |
Het |
| Masp1 |
A |
T |
16: 23,295,062 (GRCm39) |
Y400N |
probably damaging |
Het |
| Methig1 |
T |
C |
15: 100,251,092 (GRCm39) |
M1T |
probably null |
Het |
| Mmp19 |
A |
G |
10: 128,634,725 (GRCm39) |
E447G |
possibly damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,557 (GRCm39) |
H115Y |
possibly damaging |
Het |
| Myo1e |
C |
T |
9: 70,234,454 (GRCm39) |
S269L |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,744,976 (GRCm39) |
T288I |
probably benign |
Het |
| Oas3 |
C |
A |
5: 120,915,553 (GRCm39) |
R46L |
probably benign |
Het |
| Or5l14 |
A |
T |
2: 87,793,209 (GRCm39) |
V9E |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,447 (GRCm39) |
S431T |
probably benign |
Het |
| Pnpla2 |
T |
C |
7: 141,037,982 (GRCm39) |
V184A |
possibly damaging |
Het |
| Pomt2 |
C |
A |
12: 87,180,154 (GRCm39) |
K282N |
probably damaging |
Het |
| Psmd12 |
T |
A |
11: 107,386,563 (GRCm39) |
M378K |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,674,618 (GRCm39) |
Y389N |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,829,786 (GRCm39) |
A220V |
probably null |
Het |
| Tecpr2 |
T |
G |
12: 110,862,759 (GRCm39) |
L57R |
probably damaging |
Het |
| Tkfc |
A |
G |
19: 10,571,902 (GRCm39) |
L378P |
probably damaging |
Het |
| Tmprss2 |
T |
G |
16: 97,369,703 (GRCm39) |
D357A |
possibly damaging |
Het |
| Tollip |
C |
T |
7: 141,444,560 (GRCm39) |
W64* |
probably null |
Het |
| Vcan |
A |
G |
13: 89,852,794 (GRCm39) |
F722S |
probably damaging |
Het |
| Vcp |
A |
T |
4: 42,983,385 (GRCm39) |
N558K |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,133,646 (GRCm39) |
I318T |
probably damaging |
Het |
| Vmn1r33 |
A |
T |
6: 66,588,957 (GRCm39) |
I199K |
possibly damaging |
Het |
| Zfp61 |
A |
G |
7: 23,991,194 (GRCm39) |
V319A |
probably benign |
Het |
| Zfyve28 |
A |
G |
5: 34,374,238 (GRCm39) |
V592A |
possibly damaging |
Het |
|
| Other mutations in Npy5r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01289:Npy5r
|
APN |
8 |
67,134,518 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02192:Npy5r
|
APN |
8 |
67,133,998 (GRCm39) |
missense |
probably benign |
0.02 |
|
oleo
|
UTSW |
8 |
67,134,693 (GRCm39) |
nonsense |
probably null |
|
|
roly-poly
|
UTSW |
8 |
67,134,192 (GRCm39) |
frame shift |
probably null |
|
|
R0395:Npy5r
|
UTSW |
8 |
67,134,625 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1547:Npy5r
|
UTSW |
8 |
67,133,686 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1616:Npy5r
|
UTSW |
8 |
67,134,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Npy5r
|
UTSW |
8 |
67,134,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Npy5r
|
UTSW |
8 |
67,133,929 (GRCm39) |
missense |
probably benign |
|
|
R4087:Npy5r
|
UTSW |
8 |
67,134,697 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4204:Npy5r
|
UTSW |
8 |
67,134,693 (GRCm39) |
nonsense |
probably null |
|
|
R4404:Npy5r
|
UTSW |
8 |
67,134,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5427:Npy5r
|
UTSW |
8 |
67,133,672 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5530:Npy5r
|
UTSW |
8 |
67,133,512 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5994:Npy5r
|
UTSW |
8 |
67,134,751 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6041:Npy5r
|
UTSW |
8 |
67,134,675 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6602:Npy5r
|
UTSW |
8 |
67,134,192 (GRCm39) |
frame shift |
probably null |
|
|
R6837:Npy5r
|
UTSW |
8 |
67,134,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7879:Npy5r
|
UTSW |
8 |
67,133,968 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7923:Npy5r
|
UTSW |
8 |
67,134,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8534:Npy5r
|
UTSW |
8 |
67,134,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8699:Npy5r
|
UTSW |
8 |
67,134,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Npy5r
|
UTSW |
8 |
67,133,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9338:Npy5r
|
UTSW |
8 |
67,134,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9436:Npy5r
|
UTSW |
8 |
67,133,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9501:Npy5r
|
UTSW |
8 |
67,134,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTGGAATAACCTTACTGG -3'
(R):5'- TGTTGAGTCATGGCCCTCTG -3'
Sequencing Primer
(F):5'- CTGGAATAACCTTACTGGATGGTGAC -3'
(R):5'- GAGTCATGGCCCTCTGATTCATACAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation