Incidental Mutation 'IGL02308:Npffr2'
| ID |
287704 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Npffr2
|
| Ensembl Gene |
ENSMUSG00000035528 |
| Gene Name |
neuropeptide FF receptor 2 |
| Synonyms |
Gpr74, NPFF2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02308
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
89675288-89731599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89731310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 413
(N413K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048557]
|
| AlphaFold |
Q924H0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048557
AA Change: N413K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040033
Gene: ENSMUSG00000035528
AA Change: N413K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
52 |
349 |
3.8e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
56 |
347 |
3.7e-11 |
PFAM |
|
Pfam:7tm_1
|
62 |
332 |
4.2e-57 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,093,308 (GRCm39) |
S8F |
probably damaging |
Het |
| Alpk1 |
T |
A |
3: 127,522,931 (GRCm39) |
Q37L |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,736,463 (GRCm39) |
T1343A |
probably benign |
Het |
| Cmbl |
C |
A |
15: 31,585,554 (GRCm39) |
P146Q |
possibly damaging |
Het |
| Cog2 |
A |
T |
8: 125,259,951 (GRCm39) |
|
probably null |
Het |
| Dgkh |
C |
A |
14: 78,825,016 (GRCm39) |
V880L |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,402,141 (GRCm39) |
S1114P |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,080,828 (GRCm39) |
V723D |
probably damaging |
Het |
| Gdf11 |
A |
G |
10: 128,721,253 (GRCm39) |
Y314H |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,031 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
G |
A |
11: 57,127,750 (GRCm39) |
V320I |
probably benign |
Het |
| H2-Q10 |
T |
A |
17: 35,784,463 (GRCm39) |
*326R |
probably null |
Het |
| Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,832,120 (GRCm39) |
|
probably benign |
Het |
| Mios |
A |
G |
6: 8,231,269 (GRCm39) |
I718V |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,096,893 (GRCm39) |
V318A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,039,897 (GRCm39) |
*528W |
probably null |
Het |
| Nom1 |
T |
A |
5: 29,642,708 (GRCm39) |
V403D |
probably damaging |
Het |
| Olr1 |
C |
T |
6: 129,476,860 (GRCm39) |
R135K |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,779,121 (GRCm39) |
Y26N |
probably benign |
Het |
| Or52e8 |
T |
A |
7: 104,624,665 (GRCm39) |
I176F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,140,600 (GRCm39) |
|
probably null |
Het |
| Ptpro |
A |
G |
6: 137,431,698 (GRCm39) |
M1158V |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,001,017 (GRCm39) |
K238E |
probably damaging |
Het |
| Smarcc2 |
G |
T |
10: 128,318,641 (GRCm39) |
R641L |
probably damaging |
Het |
| Th |
T |
C |
7: 142,451,794 (GRCm39) |
E75G |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Top6bl |
T |
C |
19: 4,713,583 (GRCm39) |
K132E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,724,705 (GRCm39) |
R2107* |
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,245,119 (GRCm39) |
C1636S |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,741,597 (GRCm39) |
I103K |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,437 (GRCm39) |
M558V |
possibly damaging |
Het |
| Zzef1 |
G |
A |
11: 72,777,573 (GRCm39) |
M1801I |
probably benign |
Het |
|
| Other mutations in Npffr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01989:Npffr2
|
APN |
5 |
89,730,831 (GRCm39) |
missense |
probably benign |
|
|
IGL02455:Npffr2
|
APN |
5 |
89,715,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03288:Npffr2
|
APN |
5 |
89,731,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Npffr2
|
UTSW |
5 |
89,731,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0389:Npffr2
|
UTSW |
5 |
89,730,613 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1552:Npffr2
|
UTSW |
5 |
89,730,975 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1736:Npffr2
|
UTSW |
5 |
89,715,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Npffr2
|
UTSW |
5 |
89,730,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2127:Npffr2
|
UTSW |
5 |
89,715,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Npffr2
|
UTSW |
5 |
89,715,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2429:Npffr2
|
UTSW |
5 |
89,731,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4272:Npffr2
|
UTSW |
5 |
89,715,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Npffr2
|
UTSW |
5 |
89,730,879 (GRCm39) |
nonsense |
probably null |
|
|
R5023:Npffr2
|
UTSW |
5 |
89,730,546 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6386:Npffr2
|
UTSW |
5 |
89,730,556 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6546:Npffr2
|
UTSW |
5 |
89,730,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Npffr2
|
UTSW |
5 |
89,731,173 (GRCm39) |
missense |
probably benign |
|
|
R7953:Npffr2
|
UTSW |
5 |
89,730,513 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7998:Npffr2
|
UTSW |
5 |
89,731,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8043:Npffr2
|
UTSW |
5 |
89,730,513 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8509:Npffr2
|
UTSW |
5 |
89,731,188 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8799:Npffr2
|
UTSW |
5 |
89,731,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9327:Npffr2
|
UTSW |
5 |
89,730,661 (GRCm39) |
missense |
probably benign |
|
|
X0039:Npffr2
|
UTSW |
5 |
89,731,146 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0063:Npffr2
|
UTSW |
5 |
89,715,844 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Posted On |
2015-04-16 |
Incidental Mutation