Incidental Mutation 'IGL02653:Npy6r'
| ID |
302248 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Npy6r
|
| Ensembl Gene |
ENSMUSG00000038071 |
| Gene Name |
neuropeptide Y receptor Y6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
44403194-44410767 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 44409694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 372
(*372Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042747]
|
| AlphaFold |
Q61212 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042747
AA Change: *372Q
|
| SMART Domains |
Protein: ENSMUSP00000040797
Gene: ENSMUSG00000038071
AA Change: *372Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
41 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
52 |
318 |
3.5e-51 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter allele exhibit enhanced performance on the rotarod test. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,765,191 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,392,438 (GRCm39) |
H361L |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,185,583 (GRCm39) |
N3S |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,078,973 (GRCm39) |
I182F |
possibly damaging |
Het |
| Cby2 |
T |
C |
14: 75,820,597 (GRCm39) |
D385G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,957,760 (GRCm39) |
D496E |
probably benign |
Het |
| Cyp3a25 |
G |
T |
5: 145,939,920 (GRCm39) |
S29Y |
possibly damaging |
Het |
| Dglucy |
G |
A |
12: 100,837,690 (GRCm39) |
G611D |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,022,848 (GRCm39) |
K622E |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,346,877 (GRCm39) |
I1071L |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,209,777 (GRCm39) |
K1035E |
probably benign |
Het |
| Frem1 |
T |
G |
4: 82,877,571 (GRCm39) |
E1335D |
probably benign |
Het |
| Gm5900 |
A |
G |
7: 104,599,340 (GRCm39) |
|
noncoding transcript |
Het |
| Ikbke |
T |
A |
1: 131,199,572 (GRCm39) |
Q283L |
possibly damaging |
Het |
| Lepr |
A |
T |
4: 101,622,141 (GRCm39) |
I358F |
probably benign |
Het |
| Lnpk |
A |
G |
2: 74,378,392 (GRCm39) |
V123A |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,357 (GRCm39) |
K130R |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,389,526 (GRCm39) |
|
probably null |
Het |
| Polr3d |
T |
C |
14: 70,677,557 (GRCm39) |
D273G |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,892 (GRCm39) |
V477A |
probably benign |
Het |
| Prpf19 |
T |
A |
19: 10,880,328 (GRCm39) |
|
probably benign |
Het |
| Ptgr3 |
T |
C |
18: 84,113,443 (GRCm39) |
V373A |
possibly damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,862 (GRCm39) |
T676A |
possibly damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,229 (GRCm39) |
I242N |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,531 (GRCm39) |
S1738R |
probably damaging |
Het |
| Snapc1 |
C |
A |
12: 74,029,261 (GRCm39) |
P348Q |
probably benign |
Het |
| Tbc1d7 |
T |
C |
13: 43,318,874 (GRCm39) |
I88V |
probably benign |
Het |
| Tnks2 |
T |
C |
19: 36,849,851 (GRCm39) |
S220P |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,141,760 (GRCm39) |
S585R |
probably damaging |
Het |
| Trpm2 |
T |
G |
10: 77,748,503 (GRCm39) |
E1389A |
probably benign |
Het |
| Tspear |
T |
A |
10: 77,542,799 (GRCm39) |
|
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,500 (GRCm39) |
I221T |
probably damaging |
Het |
| Vmn1r204 |
A |
C |
13: 22,740,800 (GRCm39) |
I144L |
probably benign |
Het |
| Vmn2r20 |
A |
T |
6: 123,362,324 (GRCm39) |
I820N |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,214,646 (GRCm39) |
|
probably benign |
Het |
| Wnt1 |
G |
A |
15: 98,690,336 (GRCm39) |
G222R |
probably damaging |
Het |
|
| Other mutations in Npy6r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Npy6r
|
APN |
18 |
44,409,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00767:Npy6r
|
APN |
18 |
44,409,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01103:Npy6r
|
APN |
18 |
44,408,585 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02085:Npy6r
|
APN |
18 |
44,408,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03305:Npy6r
|
APN |
18 |
44,408,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0588:Npy6r
|
UTSW |
18 |
44,408,888 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1993:Npy6r
|
UTSW |
18 |
44,409,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2039:Npy6r
|
UTSW |
18 |
44,409,070 (GRCm39) |
missense |
probably benign |
|
|
R2567:Npy6r
|
UTSW |
18 |
44,408,888 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4572:Npy6r
|
UTSW |
18 |
44,408,984 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4584:Npy6r
|
UTSW |
18 |
44,409,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Npy6r
|
UTSW |
18 |
44,409,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4741:Npy6r
|
UTSW |
18 |
44,408,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5145:Npy6r
|
UTSW |
18 |
44,409,686 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5603:Npy6r
|
UTSW |
18 |
44,409,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Npy6r
|
UTSW |
18 |
44,409,061 (GRCm39) |
missense |
probably benign |
|
|
R6030:Npy6r
|
UTSW |
18 |
44,409,149 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6030:Npy6r
|
UTSW |
18 |
44,409,149 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6083:Npy6r
|
UTSW |
18 |
44,409,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6364:Npy6r
|
UTSW |
18 |
44,409,578 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7146:Npy6r
|
UTSW |
18 |
44,408,788 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7178:Npy6r
|
UTSW |
18 |
44,409,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Npy6r
|
UTSW |
18 |
44,409,223 (GRCm39) |
missense |
probably benign |
|
|
R7203:Npy6r
|
UTSW |
18 |
44,408,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Npy6r
|
UTSW |
18 |
44,409,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Npy6r
|
UTSW |
18 |
44,409,070 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8845:Npy6r
|
UTSW |
18 |
44,408,606 (GRCm39) |
missense |
probably benign |
|
|
R9389:Npy6r
|
UTSW |
18 |
44,408,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation