Incidental Mutation 'IGL03013:Npy2r'
| ID |
407845 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Npy2r
|
| Ensembl Gene |
ENSMUSG00000028004 |
| Gene Name |
neuropeptide Y receptor Y2 |
| Synonyms |
NPY-Y2 receptor |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL03013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
82445690-82455391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82447819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 319
(F319L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029633]
[ENSMUST00000098997]
[ENSMUST00000182181]
[ENSMUST00000182831]
|
| AlphaFold |
P97295 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029633
AA Change: F319L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029633
Gene: ENSMUSG00000028004
AA Change: F319L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
44 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srsx
|
65 |
344 |
1.7e-13 |
PFAM |
|
Pfam:7tm_1
|
71 |
329 |
7.9e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098997
AA Change: F319L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096595
Gene: ENSMUSG00000028004
AA Change: F319L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
27 |
212 |
1.2e-26 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
30 |
227 |
8.5e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182181
AA Change: F206L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138559
Gene: ENSMUSG00000028004
AA Change: F206L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
27 |
212 |
1.2e-26 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
30 |
227 |
8.5e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182831
AA Change: F319L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138282
Gene: ENSMUSG00000028004
AA Change: F319L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srsx
|
61 |
340 |
7.1e-15 |
PFAM |
|
Pfam:7tm_1
|
67 |
325 |
4.4e-54 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced food intake, body weight, and adiposity, elevated plasma pancreatic polypeptide levels, increased cancellous bone volume, and heightened sensitivity to pentobarbital-induced sedation. [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 |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| B3galt6 |
G |
A |
4: 156,076,215 (GRCm39) |
Q287* |
probably null |
Het |
| C2 |
A |
G |
17: 35,091,435 (GRCm39) |
V353A |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 47,072,483 (GRCm39) |
Y1017F |
possibly damaging |
Het |
| Copz1 |
T |
A |
15: 103,204,995 (GRCm39) |
M118K |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,226,296 (GRCm39) |
N298D |
probably benign |
Het |
| Exog |
T |
C |
9: 119,291,679 (GRCm39) |
S295P |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,537,571 (GRCm39) |
|
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,632 (GRCm39) |
L360S |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,399,023 (GRCm39) |
I70V |
unknown |
Het |
| Krt5 |
T |
A |
15: 101,620,103 (GRCm39) |
I205L |
probably benign |
Het |
| Leng9 |
A |
G |
7: 4,151,737 (GRCm39) |
V313A |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 141,357,147 (GRCm39) |
I148V |
probably benign |
Het |
| Mapk14 |
G |
T |
17: 28,947,323 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,891 (GRCm39) |
M123K |
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,561,690 (GRCm39) |
D205G |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,417,665 (GRCm39) |
H3537L |
possibly damaging |
Het |
| Nde1 |
C |
T |
16: 14,009,611 (GRCm39) |
P324L |
probably benign |
Het |
| Nlrp9b |
A |
T |
7: 19,782,750 (GRCm39) |
H888L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,361 (GRCm39) |
V156A |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,289,945 (GRCm39) |
I99T |
probably benign |
Het |
| Parpbp |
A |
G |
10: 87,975,840 (GRCm39) |
I91T |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,432,003 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pramel12 |
A |
G |
4: 143,144,037 (GRCm39) |
T128A |
possibly damaging |
Het |
| Pramel33 |
A |
T |
5: 93,630,391 (GRCm39) |
S394T |
probably damaging |
Het |
| Prkcb |
C |
A |
7: 122,226,905 (GRCm39) |
D630E |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,383,349 (GRCm39) |
V5A |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,646,446 (GRCm39) |
S100P |
probably damaging |
Het |
| Sdcbp2 |
A |
G |
2: 151,429,255 (GRCm39) |
T192A |
probably benign |
Het |
| Sema6a |
C |
T |
18: 47,381,461 (GRCm39) |
A1046T |
probably benign |
Het |
| Serpinb3a |
A |
G |
1: 106,973,813 (GRCm39) |
F366S |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,380,521 (GRCm39) |
W136R |
probably damaging |
Het |
| Smc2 |
G |
T |
4: 52,442,280 (GRCm39) |
V66F |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,976,111 (GRCm39) |
A1187V |
probably benign |
Het |
| Unc5cl |
G |
A |
17: 48,772,049 (GRCm39) |
M442I |
possibly damaging |
Het |
|
| Other mutations in Npy2r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02705:Npy2r
|
APN |
3 |
82,448,056 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0616:Npy2r
|
UTSW |
3 |
82,448,670 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1460:Npy2r
|
UTSW |
3 |
82,448,251 (GRCm39) |
missense |
probably benign |
|
|
R2013:Npy2r
|
UTSW |
3 |
82,448,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Npy2r
|
UTSW |
3 |
82,448,436 (GRCm39) |
splice site |
probably null |
|
|
R2171:Npy2r
|
UTSW |
3 |
82,447,708 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2259:Npy2r
|
UTSW |
3 |
82,448,661 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2261:Npy2r
|
UTSW |
3 |
82,448,346 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4604:Npy2r
|
UTSW |
3 |
82,448,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Npy2r
|
UTSW |
3 |
82,448,068 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7124:Npy2r
|
UTSW |
3 |
82,448,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Npy2r
|
UTSW |
3 |
82,448,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7709:Npy2r
|
UTSW |
3 |
82,447,689 (GRCm39) |
missense |
probably benign |
|
|
R7971:Npy2r
|
UTSW |
3 |
82,448,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7986:Npy2r
|
UTSW |
3 |
82,448,803 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9323:Npy2r
|
UTSW |
3 |
82,447,728 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9331:Npy2r
|
UTSW |
3 |
82,448,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Npy2r
|
UTSW |
3 |
82,448,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Npy2r
|
UTSW |
3 |
82,447,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Npy2r
|
UTSW |
3 |
82,447,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation