Incidental Mutation 'IGL00227:Npy6r'
ID |
2063 |
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 # |
IGL00227
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
44403194-44410767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44409511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 311
(T311S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042747]
|
AlphaFold |
Q61212 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042747
AA Change: T311S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040797 Gene: ENSMUSG00000038071 AA Change: T311S
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
C |
A |
17: 84,995,957 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
G |
6: 85,654,946 (GRCm39) |
E2695G |
probably damaging |
Het |
B3galnt2 |
A |
G |
13: 14,162,016 (GRCm39) |
N246D |
probably benign |
Het |
Ces1h |
A |
T |
8: 94,079,098 (GRCm39) |
M495K |
unknown |
Het |
Chga |
A |
G |
12: 102,529,058 (GRCm39) |
E345G |
probably damaging |
Het |
Chrnb3 |
T |
C |
8: 27,875,129 (GRCm39) |
F43L |
probably benign |
Het |
Ctu1 |
C |
A |
7: 43,324,928 (GRCm39) |
F122L |
possibly damaging |
Het |
Cwf19l2 |
C |
A |
9: 3,409,990 (GRCm39) |
Q40K |
probably benign |
Het |
Dlg2 |
T |
C |
7: 91,614,853 (GRCm39) |
I264T |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,008,853 (GRCm39) |
V1974M |
probably damaging |
Het |
Foxf2 |
C |
A |
13: 31,810,172 (GRCm39) |
P37Q |
unknown |
Het |
Gtf2e2 |
T |
C |
8: 34,266,473 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
C |
A |
4: 116,857,785 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
T |
C |
4: 116,857,786 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
T |
C |
4: 116,857,784 (GRCm39) |
|
probably benign |
Het |
Ift122 |
A |
T |
6: 115,894,018 (GRCm39) |
H901L |
probably benign |
Het |
Itih1 |
C |
T |
14: 30,664,846 (GRCm39) |
|
probably null |
Het |
Krt84 |
C |
A |
15: 101,436,208 (GRCm39) |
M460I |
probably benign |
Het |
Moxd1 |
C |
T |
10: 24,158,491 (GRCm39) |
H382Y |
probably damaging |
Het |
Or1p1 |
C |
T |
11: 74,179,952 (GRCm39) |
T160I |
probably damaging |
Het |
Or52n3 |
C |
T |
7: 104,530,724 (GRCm39) |
T270I |
probably benign |
Het |
Pbk |
T |
C |
14: 66,051,340 (GRCm39) |
I126T |
probably damaging |
Het |
Pde1b |
C |
T |
15: 103,435,107 (GRCm39) |
S400F |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,326,965 (GRCm39) |
C300S |
probably damaging |
Het |
Pnpla6 |
C |
T |
8: 3,573,808 (GRCm39) |
R419W |
probably damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,016,053 (GRCm39) |
L33P |
probably damaging |
Het |
Ralb |
T |
A |
1: 119,403,770 (GRCm39) |
D119V |
probably benign |
Het |
Relb |
A |
C |
7: 19,356,849 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
A |
1: 22,507,323 (GRCm39) |
D609V |
probably damaging |
Het |
Scnn1a |
A |
G |
6: 125,315,342 (GRCm39) |
T377A |
probably benign |
Het |
Slc13a2 |
T |
C |
11: 78,291,374 (GRCm39) |
T367A |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,263,623 (GRCm39) |
L807P |
probably damaging |
Het |
Sptbn1 |
C |
A |
11: 30,060,818 (GRCm39) |
E2051* |
probably null |
Het |
St6galnac1 |
T |
C |
11: 116,658,532 (GRCm39) |
I311V |
probably damaging |
Het |
|
Other mutations in Npy6r |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02653:Npy6r
|
APN |
18 |
44,409,694 (GRCm39) |
makesense |
probably null |
|
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 |
2011-12-09 |