Incidental Mutation 'IGL01289:Npy5r'
| ID |
72846 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Npy5r
|
| Ensembl Gene |
ENSMUSG00000044014 |
| Gene Name |
neuropeptide Y receptor Y5 |
| Synonyms |
Y5R |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
IGL01289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
67132617-67140746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67134518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 92
(N92Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070810]
[ENSMUST00000211920]
[ENSMUST00000212563]
|
| AlphaFold |
O70342 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070810
AA Change: N92Y
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065157
Gene: ENSMUSG00000044014
AA Change: N92Y
| 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 |
possibly damaging
Transcript: ENSMUST00000211920
AA Change: N92Y
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212563
AA Change: N92Y
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
A |
7: 130,740,350 (GRCm39) |
M289L |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,500,157 (GRCm39) |
M38K |
probably damaging |
Het |
| Atp8a2 |
G |
A |
14: 59,928,910 (GRCm39) |
A1048V |
probably benign |
Het |
| Cables1 |
T |
C |
18: 12,077,621 (GRCm39) |
V583A |
probably damaging |
Het |
| Ccng2 |
A |
G |
5: 93,421,276 (GRCm39) |
K262R |
probably null |
Het |
| Cfap206 |
C |
A |
4: 34,716,469 (GRCm39) |
S332I |
probably null |
Het |
| Dscam |
A |
T |
16: 96,445,082 (GRCm39) |
Y1536* |
probably null |
Het |
| Fam136b-ps |
T |
A |
15: 31,277,010 (GRCm39) |
|
probably benign |
Het |
| Fga |
A |
G |
3: 82,938,552 (GRCm39) |
Y309C |
possibly damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,167 (GRCm39) |
N129K |
probably damaging |
Het |
| Gbp8 |
G |
A |
5: 105,165,735 (GRCm39) |
A306V |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,438,719 (GRCm39) |
Y888C |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,575,608 (GRCm39) |
G210R |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,122,762 (GRCm39) |
I731M |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,014,033 (GRCm39) |
K2588* |
probably null |
Het |
| Itpr3 |
T |
A |
17: 27,318,739 (GRCm39) |
M965K |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 126,632,645 (GRCm39) |
V247A |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,899 (GRCm39) |
F127S |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,542 (GRCm39) |
L190Q |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,050,066 (GRCm39) |
F66I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Nmd3 |
T |
G |
3: 69,631,620 (GRCm39) |
S25R |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,191 (GRCm39) |
M96T |
probably benign |
Het |
| Rnf224 |
G |
T |
2: 25,126,259 (GRCm39) |
D31E |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,570,499 (GRCm39) |
E192G |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,910,187 (GRCm39) |
C777S |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,689,625 (GRCm39) |
L547P |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,662,565 (GRCm39) |
V236F |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,525 (GRCm39) |
N1922I |
probably damaging |
Het |
| Zdhhc24 |
G |
T |
19: 4,928,850 (GRCm39) |
W25L |
probably damaging |
Het |
|
| Other mutations in Npy5r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R2443:Npy5r
|
UTSW |
8 |
67,133,942 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation