Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03288:Npffr2'

415780

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 #

IGL03288

Quality Score

Status

Chromosome

Chromosomal Location

89675288-89731599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89731020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 317 (A317S)

Ref Sequence

ENSEMBL: ENSMUSP00000040033 (fasta)

Gene Model

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

AlphaFold

Q924H0

Predicted Effect

probably damaging
Transcript: ENSMUST00000048557
AA Change: A317S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040033
Gene: ENSMUSG00000035528
AA Change: A317S

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,761,959 (GRCm39)	K1589R	probably benign	Het
Armc3	T	C	2: 19,240,293 (GRCm39)	F17L	probably damaging	Het
Ccdc17	T	A	4: 116,456,626 (GRCm39)	L465H	probably damaging	Het
Cdh9	A	T	15: 16,856,135 (GRCm39)	D725V	probably damaging	Het
Cert1	T	A	13: 96,770,700 (GRCm39)	D536E	probably benign	Het
Chl1	C	T	6: 103,652,058 (GRCm39)	R309C	probably damaging	Het
Dbt	T	A	3: 116,341,847 (GRCm39)	*483K	probably null	Het
Ddx46	A	G	13: 55,785,907 (GRCm39)	D29G	unknown	Het
Des	T	C	1: 75,338,985 (GRCm39)	I222T	possibly damaging	Het
Dnah8	A	G	17: 30,891,323 (GRCm39)	N776S	probably benign	Het
Fbn1	A	T	2: 125,145,103 (GRCm39)	L2712Q	probably benign	Het
Glb1l3	A	C	9: 26,729,601 (GRCm39)	V622G	probably damaging	Het
Grin2a	T	C	16: 9,487,704 (GRCm39)	D398G	possibly damaging	Het
Itgb3	T	C	11: 104,524,293 (GRCm39)	M143T	probably damaging	Het
Lama2	G	A	10: 27,245,047 (GRCm39)	R245C	probably damaging	Het
Lgals9	G	A	11: 78,875,626 (GRCm39)	A6V	probably benign	Het
Lman2l	A	T	1: 36,482,628 (GRCm39)	Y83N	probably damaging	Het
Lrp2	T	A	2: 69,256,383 (GRCm39)	T4586S	probably benign	Het
Med10	T	C	13: 69,963,816 (GRCm39)		probably benign	Het
Myo18b	A	C	5: 112,937,863 (GRCm39)	L1754R	probably damaging	Het
Myom2	T	C	8: 15,172,679 (GRCm39)	L1202S	probably damaging	Het
Nav3	T	C	10: 109,594,878 (GRCm39)	E1441G	probably damaging	Het
Nme8	T	C	13: 19,880,776 (GRCm39)	E60G	possibly damaging	Het
Nrxn2	A	G	19: 6,540,726 (GRCm39)	D893G	probably damaging	Het
Nup153	T	C	13: 46,858,681 (GRCm39)	E410G	possibly damaging	Het
Or11h7	T	C	14: 50,890,832 (GRCm39)	I46T	possibly damaging	Het
Or7e178	A	G	9: 20,247,207 (GRCm39)		probably null	Het
Pcdhb10	A	G	18: 37,546,358 (GRCm39)	D478G	probably damaging	Het
Phf13	T	C	4: 152,076,826 (GRCm39)	D122G	possibly damaging	Het
Pkhd1	A	T	1: 20,271,243 (GRCm39)	H3103Q	probably benign	Het
Prr11	A	C	11: 86,987,787 (GRCm39)		probably null	Het
Rac3	C	T	11: 120,614,092 (GRCm39)	T118M	possibly damaging	Het
Rad54b	T	C	4: 11,569,833 (GRCm39)	S50P	possibly damaging	Het
Rp1	T	C	1: 4,419,747 (GRCm39)	Q455R	possibly damaging	Het
Semp2l1	T	A	1: 32,584,841 (GRCm39)	E356D	probably benign	Het
Sorl1	T	C	9: 41,944,858 (GRCm39)		probably benign	Het
Spink5	A	T	18: 44,147,827 (GRCm39)	I858F	possibly damaging	Het
Stxbp5	A	T	10: 9,742,447 (GRCm39)		probably null	Het
Svep1	A	C	4: 58,116,532 (GRCm39)	V906G	probably benign	Het
Tlr4	A	G	4: 66,757,990 (GRCm39)	E261G	probably damaging	Het
Zfp704	C	T	3: 9,504,951 (GRCm39)		probably benign	Het
Zfyve9	A	T	4: 108,580,996 (GRCm39)		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
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
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

2016-08-02