Incidental Mutation 'IGL01103:Npy6r'
| ID |
53176 |
| 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 # |
IGL01103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
44403194-44410767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44408585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 2
(E2G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042747]
|
| AlphaFold |
Q61212 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042747
AA Change: E2G
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000040797
Gene: ENSMUSG00000038071
AA Change: E2G
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calhm6 |
A |
T |
10: 34,002,361 (GRCm39) |
C241S |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,281,937 (GRCm39) |
Y775C |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,521,204 (GRCm39) |
S980P |
possibly damaging |
Het |
| Ddx51 |
C |
T |
5: 110,803,729 (GRCm39) |
A375V |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,253,412 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,495,577 (GRCm39) |
D588G |
probably benign |
Het |
| Fer1l4 |
C |
T |
2: 155,886,361 (GRCm39) |
|
probably null |
Het |
| Fli1 |
T |
C |
9: 32,335,236 (GRCm39) |
N399D |
probably benign |
Het |
| Gm20422 |
T |
C |
8: 70,195,776 (GRCm39) |
T168A |
possibly damaging |
Het |
| Kcnk12 |
C |
T |
17: 88,054,195 (GRCm39) |
G156R |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,902,283 (GRCm39) |
S309T |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,464,533 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,788,082 (GRCm39) |
C1324R |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,103,532 (GRCm39) |
T236I |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,778 (GRCm39) |
V136A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,253 (GRCm39) |
K644E |
probably damaging |
Het |
| Polr3h |
T |
A |
15: 81,806,697 (GRCm39) |
N41Y |
probably damaging |
Het |
| Prrx1 |
T |
C |
1: 163,089,531 (GRCm39) |
T99A |
probably damaging |
Het |
| Prss1l |
T |
A |
6: 41,374,091 (GRCm39) |
V231D |
probably damaging |
Het |
| Rbm18 |
G |
A |
2: 36,024,184 (GRCm39) |
R26* |
probably null |
Het |
| Repin1 |
G |
T |
6: 48,574,887 (GRCm39) |
|
probably benign |
Het |
| Rnase1 |
T |
C |
14: 51,383,079 (GRCm39) |
N92D |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,063,906 (GRCm39) |
C782* |
probably null |
Het |
| Slc27a6 |
T |
A |
18: 58,689,836 (GRCm39) |
S101T |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,532,328 (GRCm39) |
N2862D |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tril |
A |
G |
6: 53,796,023 (GRCm39) |
Y400H |
probably damaging |
Het |
| Trim34b |
T |
C |
7: 103,979,106 (GRCm39) |
C118R |
probably damaging |
Het |
| Vwa7 |
T |
C |
17: 35,243,918 (GRCm39) |
V784A |
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 |
|
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 |
2013-06-21 |
Incidental Mutation