Incidental Mutation 'IGL01105:Npy1r'
| ID |
51772 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Npy1r
|
| Ensembl Gene |
ENSMUSG00000036437 |
| Gene Name |
neuropeptide Y receptor Y1 |
| Synonyms |
Npyr, Y1-R |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
IGL01105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
67149844-67159444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67157428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 246
(K246R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039303]
[ENSMUST00000212588]
|
| AlphaFold |
Q04573 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039303
AA Change: K246R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045530
Gene: ENSMUSG00000036437
AA Change: K246R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
50 |
334 |
7.8e-11 |
PFAM |
|
Pfam:7tm_1
|
56 |
319 |
1.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212588
AA Change: K246R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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 belongs to the G-protein-coupled receptor superfamily. The encoded transmembrane protein mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrointestinal hormone. The encoded receptor undergoes fast agonist-induced internalization through clathrin-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 receptors may result in mobilization of intracellular calcium and inhibition of adenylate cyclase activity. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit moderate obesity, mild hyperinsulinemia, reduced activity and energy expenditure, lowered fast-induced refeeding, hyperalgesia, increased neuropathic pain, and resistance to barbiturates. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,862,885 (GRCm39) |
V302E |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,909,281 (GRCm39) |
D86G |
probably benign |
Het |
| Antxr2 |
G |
T |
5: 98,152,802 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,321,699 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
C |
T |
9: 107,873,060 (GRCm39) |
|
probably benign |
Het |
| Cdkn2c |
C |
T |
4: 109,518,823 (GRCm39) |
V44I |
probably damaging |
Het |
| Chodl |
T |
C |
16: 78,738,151 (GRCm39) |
Y40H |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,888,521 (GRCm39) |
D391G |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,000,320 (GRCm39) |
T311A |
possibly damaging |
Het |
| Itpr1 |
G |
A |
6: 108,358,294 (GRCm39) |
S620N |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,401,680 (GRCm39) |
S1096T |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Krtap9-5 |
A |
G |
11: 99,839,459 (GRCm39) |
I53M |
unknown |
Het |
| Limk2 |
G |
A |
11: 3,305,475 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
G |
A |
3: 104,371,484 (GRCm39) |
R382* |
probably null |
Het |
| Mamdc2 |
T |
A |
19: 23,308,366 (GRCm39) |
D512V |
probably benign |
Het |
| Marchf1 |
A |
T |
8: 66,871,529 (GRCm39) |
T353S |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,219,567 (GRCm39) |
D312G |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,665,678 (GRCm39) |
M627I |
probably benign |
Het |
| Nipa2 |
A |
T |
7: 55,583,193 (GRCm39) |
I184N |
probably damaging |
Het |
| Pank4 |
C |
T |
4: 155,056,922 (GRCm39) |
|
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,408,400 (GRCm39) |
E1035D |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,220,852 (GRCm39) |
D362E |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,388,873 (GRCm39) |
V1872L |
possibly damaging |
Het |
| Postn |
T |
G |
3: 54,270,131 (GRCm39) |
I70S |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,397,055 (GRCm39) |
S107P |
possibly damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,386,408 (GRCm39) |
V131A |
probably benign |
Het |
| Qsox2 |
A |
G |
2: 26,099,697 (GRCm39) |
V609A |
probably benign |
Het |
| Rhebl1 |
C |
A |
15: 98,776,379 (GRCm39) |
E139D |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,582,150 (GRCm39) |
S2848P |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,286,497 (GRCm39) |
I109N |
probably benign |
Het |
| Sim1 |
A |
G |
10: 50,857,630 (GRCm39) |
H460R |
probably damaging |
Het |
| Slc35f3 |
C |
A |
8: 127,025,553 (GRCm39) |
P10Q |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,249,031 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
G |
T |
11: 32,527,740 (GRCm39) |
V163L |
probably benign |
Het |
| Tssk6 |
A |
G |
8: 70,355,462 (GRCm39) |
T169A |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,921,550 (GRCm39) |
V256E |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably damaging |
Het |
|
| Other mutations in Npy1r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01629:Npy1r
|
APN |
8 |
67,156,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02338:Npy1r
|
APN |
8 |
67,156,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02651:Npy1r
|
APN |
8 |
67,157,675 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Bowery
|
UTSW |
8 |
67,156,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
marmot
|
UTSW |
8 |
67,156,941 (GRCm39) |
nonsense |
probably null |
|
|
PIT4576001:Npy1r
|
UTSW |
8 |
67,156,874 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0534:Npy1r
|
UTSW |
8 |
67,157,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Npy1r
|
UTSW |
8 |
67,156,847 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1575:Npy1r
|
UTSW |
8 |
67,156,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Npy1r
|
UTSW |
8 |
67,157,177 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2144:Npy1r
|
UTSW |
8 |
67,157,836 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2280:Npy1r
|
UTSW |
8 |
67,156,711 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3775:Npy1r
|
UTSW |
8 |
67,157,502 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5678:Npy1r
|
UTSW |
8 |
67,156,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6721:Npy1r
|
UTSW |
8 |
67,156,941 (GRCm39) |
nonsense |
probably null |
|
|
R7050:Npy1r
|
UTSW |
8 |
67,157,192 (GRCm39) |
missense |
probably benign |
|
|
R7250:Npy1r
|
UTSW |
8 |
67,157,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7531:Npy1r
|
UTSW |
8 |
67,157,546 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7827:Npy1r
|
UTSW |
8 |
67,156,864 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8123:Npy1r
|
UTSW |
8 |
67,157,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9058:Npy1r
|
UTSW |
8 |
67,156,600 (GRCm39) |
missense |
probably benign |
|
|
R9343:Npy1r
|
UTSW |
8 |
67,156,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Npy1r
|
UTSW |
8 |
67,156,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9775:Npy1r
|
UTSW |
8 |
67,157,742 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
X0022:Npy1r
|
UTSW |
8 |
67,157,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation