Incidental Mutation 'R5603:Npy6r'
ID |
439158 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npy6r
|
Ensembl Gene |
ENSMUSG00000038071 |
Gene Name |
neuropeptide Y receptor Y6 |
Synonyms |
|
MMRRC Submission |
043155-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5603 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
44403194-44410767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44409652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 358
(S358T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042747]
|
AlphaFold |
Q61212 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042747
AA Change: S358T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040797 Gene: ENSMUSG00000038071 AA Change: S358T
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Baiap2l1 |
A |
G |
5: 144,202,787 (GRCm39) |
S509P |
probably damaging |
Het |
Bud31 |
T |
C |
5: 145,081,769 (GRCm39) |
I52T |
possibly damaging |
Het |
Cacna1g |
C |
T |
11: 94,330,578 (GRCm39) |
S979N |
possibly damaging |
Het |
Cacna2d4 |
T |
A |
6: 119,221,246 (GRCm39) |
W253R |
probably damaging |
Het |
Ccna1 |
A |
G |
3: 54,958,330 (GRCm39) |
Y118H |
probably damaging |
Het |
Cct8l1 |
A |
G |
5: 25,721,497 (GRCm39) |
T71A |
probably benign |
Het |
Chaf1b |
A |
G |
16: 93,689,683 (GRCm39) |
T19A |
probably damaging |
Het |
Col6a2 |
A |
T |
10: 76,432,603 (GRCm39) |
V850D |
probably damaging |
Het |
Cpsf2 |
C |
A |
12: 101,964,890 (GRCm39) |
Q513K |
probably benign |
Het |
Dnah5 |
T |
G |
15: 28,420,078 (GRCm39) |
V3792G |
probably damaging |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Exoc6b |
T |
C |
6: 84,812,126 (GRCm39) |
D625G |
possibly damaging |
Het |
Gad1 |
C |
A |
2: 70,420,173 (GRCm39) |
F352L |
probably damaging |
Het |
Gm5422 |
T |
A |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,900,395 (GRCm39) |
E162G |
probably damaging |
Het |
Grm6 |
T |
A |
11: 50,747,786 (GRCm39) |
F333I |
probably damaging |
Het |
Heatr5a |
A |
G |
12: 51,924,358 (GRCm39) |
F1952L |
probably benign |
Het |
Ighv1-42 |
C |
T |
12: 114,901,132 (GRCm39) |
|
probably benign |
Het |
Itgb6 |
T |
C |
2: 60,450,706 (GRCm39) |
T578A |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mfsd14b |
T |
C |
13: 65,221,420 (GRCm39) |
K291E |
probably benign |
Het |
Mllt6 |
T |
C |
11: 97,564,331 (GRCm39) |
L379P |
probably damaging |
Het |
Mtmr6 |
A |
T |
14: 60,522,450 (GRCm39) |
K183* |
probably null |
Het |
Mylk |
A |
G |
16: 34,776,862 (GRCm39) |
N1345S |
probably benign |
Het |
Nab2 |
A |
T |
10: 127,500,990 (GRCm39) |
M1K |
probably null |
Het |
Ngly1 |
C |
A |
14: 16,260,762 (GRCm38) |
Q149K |
probably benign |
Het |
Pbld2 |
A |
G |
10: 62,907,228 (GRCm39) |
T156A |
probably benign |
Het |
Pik3cd |
A |
T |
4: 149,743,312 (GRCm39) |
C263S |
probably benign |
Het |
Pramel21 |
T |
A |
4: 143,344,066 (GRCm39) |
C455* |
probably null |
Het |
Ptk2b |
A |
T |
14: 66,409,514 (GRCm39) |
Y507* |
probably null |
Het |
Rbm25 |
C |
T |
12: 83,710,990 (GRCm39) |
R368* |
probably null |
Het |
Rnf207 |
T |
C |
4: 152,396,851 (GRCm39) |
Y396C |
probably damaging |
Het |
Skint2 |
T |
A |
4: 112,506,961 (GRCm39) |
V328E |
possibly damaging |
Het |
Slc3a2 |
A |
G |
19: 8,691,092 (GRCm39) |
V7A |
probably benign |
Het |
Spata18 |
G |
A |
5: 73,828,575 (GRCm39) |
V265I |
probably benign |
Het |
Tmem120b |
T |
A |
5: 123,239,705 (GRCm39) |
V108D |
possibly damaging |
Het |
Ugt1a2 |
T |
C |
1: 88,129,148 (GRCm39) |
Y264H |
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 |
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 |
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'- GTCATCTTCGACTGGTATCATGAG -3'
(R):5'- CTTAAAGCAAAACTGGGCCC -3'
Sequencing Primer
(F):5'- CATGAGATGCTGATGAGCTGCC -3'
(R):5'- ACTGGGCCCAAAGATATTATGTG -3'
|
Posted On |
2016-10-26 |