Incidental Mutation 'R0588:Npy6r'
ID |
55850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npy6r
|
Ensembl Gene |
ENSMUSG00000038071 |
Gene Name |
neuropeptide Y receptor Y6 |
Synonyms |
|
MMRRC Submission |
038778-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0588 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
44403194-44410767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44408888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 103
(V103E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042747]
|
AlphaFold |
Q61212 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042747
AA Change: V103E
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000040797 Gene: ENSMUSG00000038071 AA Change: V103E
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
41 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
52 |
318 |
3.5e-51 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
100% (25/25) |
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
A |
6: 142,548,787 (GRCm39) |
K1299* |
probably null |
Het |
Adamts2 |
G |
T |
11: 50,667,491 (GRCm39) |
W476C |
probably damaging |
Het |
Ankrd13c |
T |
C |
3: 157,711,454 (GRCm39) |
F525L |
probably damaging |
Het |
Arg1 |
T |
C |
10: 24,796,522 (GRCm39) |
S102G |
probably damaging |
Het |
Atp2a3 |
A |
T |
11: 72,863,850 (GRCm39) |
D192V |
possibly damaging |
Het |
Cabin1 |
T |
C |
10: 75,581,171 (GRCm39) |
E385G |
possibly damaging |
Het |
Cacna1h |
A |
T |
17: 25,606,538 (GRCm39) |
D1020E |
probably damaging |
Het |
Calcb |
C |
T |
7: 114,319,361 (GRCm39) |
H48Y |
probably benign |
Het |
Crtc1 |
A |
G |
8: 70,892,199 (GRCm39) |
S4P |
probably damaging |
Het |
Dcaf6 |
A |
G |
1: 165,247,792 (GRCm39) |
I147T |
possibly damaging |
Het |
Ears2 |
T |
C |
7: 121,643,514 (GRCm39) |
|
probably benign |
Het |
Fas |
T |
C |
19: 34,304,540 (GRCm39) |
V267A |
probably damaging |
Het |
Fus |
T |
C |
7: 127,584,746 (GRCm39) |
L84P |
probably damaging |
Het |
Fyb1 |
T |
C |
15: 6,609,940 (GRCm39) |
V171A |
probably benign |
Het |
Gdap2 |
T |
A |
3: 100,077,317 (GRCm39) |
M1K |
probably null |
Het |
Gprc5b |
T |
A |
7: 118,583,218 (GRCm39) |
Q217L |
probably benign |
Het |
Lrrc69 |
A |
G |
4: 14,704,001 (GRCm39) |
I273T |
possibly damaging |
Het |
Map4k4 |
C |
A |
1: 40,044,024 (GRCm39) |
Q556K |
possibly damaging |
Het |
Or5b24 |
A |
G |
19: 12,912,111 (GRCm39) |
Y3C |
probably benign |
Het |
Shisa9 |
A |
G |
16: 12,085,638 (GRCm39) |
T416A |
probably damaging |
Het |
Slc26a9 |
C |
A |
1: 131,681,749 (GRCm39) |
|
probably benign |
Het |
Sostdc1 |
G |
T |
12: 36,367,020 (GRCm39) |
|
probably benign |
Het |
St18 |
T |
A |
1: 6,887,962 (GRCm39) |
F510L |
probably damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,810,106 (GRCm39) |
|
probably benign |
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 |
IGL02653:Npy6r
|
APN |
18 |
44,409,694 (GRCm39) |
makesense |
probably null |
|
IGL03305:Npy6r
|
APN |
18 |
44,408,921 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAAGTGCTCACAAACCAGCC -3'
(R):5'- GCAGAGAACGATCTTCAGGTAGCAG -3'
Sequencing Primer
(F):5'- ACTGTGATCCTAATCATGGGC -3'
(R):5'- GGTTCAGTTTAGAAGGCCAAATCTC -3'
|
Posted On |
2013-07-11 |