Incidental Mutation 'R6721:Npy1r'
| ID |
529590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npy1r
|
| Ensembl Gene |
ENSMUSG00000036437 |
| Gene Name |
neuropeptide Y receptor Y1 |
| Synonyms |
Npyr, Y1-R |
| MMRRC Submission |
044839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
67149844-67159444 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 67156941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 120
(C120*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039303]
[ENSMUST00000212588]
|
| AlphaFold |
Q04573 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039303
AA Change: C120*
|
| SMART Domains |
Protein: ENSMUSP00000045530
Gene: ENSMUSG00000036437
AA Change: C120*
| 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 null
Transcript: ENSMUST00000212588
AA Change: C120*
|
| Meta Mutation Damage Score |
0.9711 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,634 (GRCm39) |
L3588S |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,311,976 (GRCm39) |
F402S |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,139,720 (GRCm39) |
Q359R |
probably null |
Het |
| Arhgef10l |
T |
C |
4: 140,297,655 (GRCm39) |
Y546C |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,170,625 (GRCm39) |
Y1615H |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,765,939 (GRCm39) |
Y142C |
probably damaging |
Het |
| Cfap418 |
A |
G |
4: 10,874,744 (GRCm39) |
N44D |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,260,045 (GRCm39) |
|
probably benign |
Het |
| Cmtm2b |
A |
G |
8: 105,049,077 (GRCm39) |
S31G |
possibly damaging |
Het |
| CN725425 |
A |
G |
15: 91,115,821 (GRCm39) |
K21R |
possibly damaging |
Het |
| Cngb1 |
T |
C |
8: 95,997,516 (GRCm39) |
T560A |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,926,977 (GRCm39) |
D151G |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,504,108 (GRCm39) |
V124E |
probably damaging |
Het |
| Ctsd |
G |
A |
7: 141,930,590 (GRCm39) |
P349S |
possibly damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,478 (GRCm39) |
W459R |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,982,672 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,084 (GRCm39) |
I239T |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,122,529 (GRCm39) |
C269* |
probably null |
Het |
| Gmpr2 |
A |
T |
14: 55,910,191 (GRCm39) |
D7V |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,952,296 (GRCm39) |
I204N |
possibly damaging |
Het |
| Il16 |
A |
T |
7: 83,312,270 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,936,394 (GRCm39) |
T367A |
probably benign |
Het |
| Lefty2 |
T |
C |
1: 180,722,166 (GRCm39) |
V168A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,034,023 (GRCm39) |
E227G |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,352,729 (GRCm39) |
C739S |
possibly damaging |
Het |
| Nup153 |
A |
G |
13: 46,854,502 (GRCm39) |
V530A |
probably damaging |
Het |
| Ogfr |
T |
A |
2: 180,237,221 (GRCm39) |
L602Q |
possibly damaging |
Het |
| Or10g7 |
C |
T |
9: 39,905,603 (GRCm39) |
P166S |
possibly damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,508 (GRCm39) |
G270E |
probably benign |
Het |
| Or7e178 |
A |
C |
9: 20,225,576 (GRCm39) |
D213E |
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,302,776 (GRCm39) |
R440L |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,157 (GRCm39) |
V121A |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,177,794 (GRCm39) |
V1036M |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,925,333 (GRCm39) |
M102K |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,844,213 (GRCm39) |
S7G |
probably benign |
Het |
| Rabggta |
A |
G |
14: 55,954,660 (GRCm39) |
L507P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,547,836 (GRCm39) |
T473A |
probably damaging |
Het |
| Spc25 |
A |
C |
2: 69,027,517 (GRCm39) |
M125R |
possibly damaging |
Het |
| Taok3 |
T |
C |
5: 117,393,928 (GRCm39) |
M567T |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,851,917 (GRCm39) |
Y327H |
probably benign |
Het |
| Tmem209 |
A |
G |
6: 30,497,174 (GRCm39) |
F339L |
probably benign |
Het |
| U2surp |
T |
C |
9: 95,373,157 (GRCm39) |
N279S |
probably damaging |
Het |
| Ythdf3 |
G |
A |
3: 16,258,025 (GRCm39) |
M61I |
possibly damaging |
Het |
| Zfp647 |
T |
C |
15: 76,796,076 (GRCm39) |
I195V |
probably benign |
Het |
|
| Other mutations in Npy1r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01105:Npy1r
|
APN |
8 |
67,157,428 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCTCTGGAAACCTGGCATTG -3'
(R):5'- GACACATTTTGGAAGGGCTCG -3'
Sequencing Primer
(F):5'- CTGGAAACCTGGCATTGATCATAATC -3'
(R):5'- CGTCGGTCAGAATTTGATAGATCAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation