Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01989:Npffr2'

182819

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) question?

Stock #

IGL01989

Quality Score

Status

Chromosome

Chromosomal Location

89675288-89731599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89730831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 254 (T254A)

Ref Sequence

ENSEMBL: ENSMUSP00000040033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048557]

AlphaFold

Q924H0

Predicted Effect

probably benign
Transcript: ENSMUST00000048557
AA Change: T254A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040033
Gene: ENSMUSG00000035528
AA Change: T254A

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,862,266 (GRCm39)	V8D	probably damaging	Het
Asb15	A	G	6: 24,565,943 (GRCm39)	T299A	probably damaging	Het
Asph	A	T	4: 9,602,462 (GRCm39)		probably benign	Het
Cadm3	G	A	1: 173,165,578 (GRCm39)		probably benign	Het
Cep164	G	A	9: 45,704,313 (GRCm39)		probably benign	Het
Ces2c	C	A	8: 105,576,375 (GRCm39)	N129K	probably damaging	Het
Chdh	C	A	14: 29,753,688 (GRCm39)	P199Q	possibly damaging	Het
Dnah7b	T	C	1: 46,328,694 (GRCm39)	V3142A	probably damaging	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Dock2	G	T	11: 34,218,053 (GRCm39)	N1172K	probably benign	Het
Dppa5a	T	A	9: 78,275,103 (GRCm39)	E66D	probably benign	Het
F5	A	G	1: 164,003,876 (GRCm39)	S224G	probably benign	Het
Fign	T	C	2: 63,810,794 (GRCm39)	T159A	probably benign	Het
Fsip2	A	T	2: 82,824,211 (GRCm39)	D6648V	probably damaging	Het
Gbp2b	A	T	3: 142,317,201 (GRCm39)	E519V	probably benign	Het
Hdac10	A	G	15: 89,009,546 (GRCm39)	L462P	probably damaging	Het
Hecw2	A	G	1: 53,879,951 (GRCm39)	L1286S	probably damaging	Het
Hnrnpll	A	G	17: 80,346,169 (GRCm39)	V364A	probably benign	Het
Hnrnpul2	A	G	19: 8,800,992 (GRCm39)	T282A	probably damaging	Het
Il12a	T	A	3: 68,598,909 (GRCm39)		probably benign	Het
Insl5	C	A	4: 102,883,838 (GRCm39)	V28L	probably benign	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Lrfn2	A	G	17: 49,378,113 (GRCm39)	D398G	probably damaging	Het
Lrp1	C	T	10: 127,413,998 (GRCm39)	D1137N	probably damaging	Het
Mettl18	C	A	1: 163,823,872 (GRCm39)	D64E	probably benign	Het
Mrpl3	A	G	9: 104,948,678 (GRCm39)	T245A	probably benign	Het
Mrps18c	C	A	5: 100,949,775 (GRCm39)	P52Q	probably damaging	Het
Myh3	A	T	11: 66,977,481 (GRCm39)	D377V	probably damaging	Het
N4bp1	C	A	8: 87,575,115 (GRCm39)	V727L	probably damaging	Het
Nsfl1c	C	A	2: 151,342,649 (GRCm39)	T73K	probably damaging	Het
Or8a1b	C	T	9: 37,623,132 (GRCm39)	V148I	probably damaging	Het
Plxna1	C	T	6: 89,306,396 (GRCm39)	W1442*	probably null	Het
Serpina3n	T	A	12: 104,379,750 (GRCm39)	M381K	probably benign	Het
Shank3	C	T	15: 89,387,502 (GRCm39)		probably benign	Het
Smtnl1	T	C	2: 84,648,814 (GRCm39)	N147D	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,412 (GRCm39)	S96P	unknown	Het
Ssh2	A	G	11: 77,344,511 (GRCm39)	E832G	possibly damaging	Het
Stxbp1	T	C	2: 32,702,076 (GRCm39)	D207G	probably benign	Het
Sult1c2	A	T	17: 54,281,055 (GRCm39)	M16K	probably benign	Het
Tmem247	A	G	17: 87,225,719 (GRCm39)	E53G	probably damaging	Het
Tmem86a	A	T	7: 46,703,187 (GRCm39)	I105F	probably benign	Het
Tph2	A	G	10: 114,981,921 (GRCm39)	S304P	probably benign	Het
Ttn	T	C	2: 76,608,883 (GRCm39)	D17711G	probably damaging	Het
Urb1	A	T	16: 90,566,474 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,837,478 (GRCm39)	I1729L	possibly damaging	Het
Vmn2r90	T	A	17: 17,933,494 (GRCm39)	Y351*	probably null	Het
Wfdc5	C	T	2: 164,020,651 (GRCm39)		probably null	Het
Wnt3	G	A	11: 103,703,233 (GRCm39)	D239N	probably benign	Het
Zbtb8b	T	A	4: 129,326,181 (GRCm39)	E295V	probably damaging	Het
Zfp458	T	C	13: 67,407,691 (GRCm39)	T52A	probably damaging	Het

Other mutations in Npffr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-05-07