Incidental Mutation 'R2429:Npffr2'
| ID |
250341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npffr2
|
| Ensembl Gene |
ENSMUSG00000035528 |
| Gene Name |
neuropeptide FF receptor 2 |
| Synonyms |
Gpr74, NPFF2 |
| MMRRC Submission |
040391-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2429 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
89675288-89731599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89731006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 312
(Y312F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048557]
|
| AlphaFold |
Q924H0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048557
AA Change: Y312F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040033
Gene: ENSMUSG00000035528
AA Change: Y312F
| 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 |
|
| Meta Mutation Damage Score |
0.3975 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (34/34) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930470P17Rik |
A |
T |
2: 170,421,745 (GRCm39) |
M45K |
unknown |
Het |
| Abcd3 |
A |
G |
3: 121,586,512 (GRCm39) |
F63L |
probably damaging |
Het |
| Acsm3 |
A |
T |
7: 119,367,223 (GRCm39) |
M19L |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,597,496 (GRCm39) |
K41E |
probably benign |
Het |
| Atp8b3 |
T |
A |
10: 80,362,728 (GRCm39) |
I677L |
probably benign |
Het |
| Auh |
C |
T |
13: 53,073,052 (GRCm39) |
G110R |
probably damaging |
Het |
| Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
| Cntn6 |
T |
C |
6: 104,627,526 (GRCm39) |
Y120H |
possibly damaging |
Het |
| Gnpat |
T |
C |
8: 125,603,758 (GRCm39) |
F212S |
probably damaging |
Het |
| Gpd1 |
A |
G |
15: 99,618,488 (GRCm39) |
M181V |
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,527,914 (GRCm39) |
K216N |
probably damaging |
Het |
| Kif21a |
G |
A |
15: 90,882,208 (GRCm39) |
T32M |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,377 (GRCm39) |
V3477A |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,373,894 (GRCm39) |
L119* |
probably null |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,194,723 (GRCm39) |
N1645D |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,210,583 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
C |
A |
2: 60,345,312 (GRCm39) |
C348F |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,362 (GRCm39) |
N590S |
probably damaging |
Het |
| Prpsap1 |
G |
A |
11: 116,363,061 (GRCm39) |
T314M |
probably damaging |
Het |
| Prss35 |
T |
C |
9: 86,637,398 (GRCm39) |
V56A |
probably benign |
Het |
| Setx |
T |
C |
2: 29,069,910 (GRCm39) |
S2572P |
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,055,960 (GRCm39) |
D93G |
possibly damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,506,399 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
T |
G |
2: 14,409,897 (GRCm39) |
S298A |
probably benign |
Het |
| Sorl1 |
G |
T |
9: 41,948,366 (GRCm39) |
D806E |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,526,781 (GRCm39) |
K43E |
possibly damaging |
Het |
| Trmt1l |
T |
A |
1: 151,309,581 (GRCm39) |
L88Q |
probably damaging |
Het |
| Zfp334 |
G |
A |
2: 165,222,432 (GRCm39) |
T537I |
probably damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,482 (GRCm39) |
L168* |
probably null |
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 |
|
|
IGL02308:Npffr2
|
APN |
5 |
89,731,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAAGGATTGGGGCTTC -3'
(R):5'- AGGCCCGATGTGTTTATGAC -3'
Sequencing Primer
(F):5'- TCCCTCTTCAAGACGGCAG -3'
(R):5'- CCCGATGTGTTTATGACTATGTTGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation