Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02455:Npffr2'

293797

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 #

IGL02455

Quality Score

Status

Chromosome

Chromosomal Location

89675288-89731599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89715994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 107 (I107T)

Ref Sequence

ENSEMBL: ENSMUSP00000040033 (fasta)

Gene Model

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

AlphaFold

Q924H0

Predicted Effect

probably damaging
Transcript: ENSMUST00000048557
AA Change: I107T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040033
Gene: ENSMUSG00000035528
AA Change: I107T

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,271,021 (GRCm39)	V479A	probably damaging	Het
Adam18	T	C	8: 25,141,864 (GRCm39)	D235G	probably damaging	Het
Cdh22	T	C	2: 164,984,175 (GRCm39)	N359S	possibly damaging	Het
Cebpz	G	T	17: 79,242,465 (GRCm39)	N396K	probably benign	Het
Celsr3	T	A	9: 108,720,092 (GRCm39)	W2493R	probably benign	Het
Clca3a2	C	T	3: 144,787,172 (GRCm39)	V500M	probably benign	Het
Clec4a4	A	C	6: 122,990,739 (GRCm39)	N160H	possibly damaging	Het
Crb2	T	C	2: 37,684,576 (GRCm39)	S1139P	possibly damaging	Het
Dnah8	T	C	17: 30,891,308 (GRCm39)	I771T	probably damaging	Het
Etfbkmt	C	T	6: 149,048,724 (GRCm39)	A121V	probably damaging	Het
Fat4	T	A	3: 39,005,280 (GRCm39)	L1893Q	possibly damaging	Het
Fbxw13	A	T	9: 109,012,255 (GRCm39)	S188T	probably benign	Het
Fign	T	C	2: 63,810,841 (GRCm39)	D143G	probably benign	Het
Foxj3	C	A	4: 119,477,434 (GRCm39)	H381N	unknown	Het
Gpr158	A	T	2: 21,373,511 (GRCm39)	T149S	probably benign	Het
Ift74	C	T	4: 94,524,068 (GRCm39)	Q195*	probably null	Het
Kif2c	C	A	4: 117,029,551 (GRCm39)	M143I	probably benign	Het
Kmt2b	A	G	7: 30,278,303 (GRCm39)		probably null	Het
Krt84	C	T	15: 101,434,170 (GRCm39)	R599H	unknown	Het
Ly6g6f	C	T	17: 35,301,866 (GRCm39)	R196H	possibly damaging	Het
Map4	C	A	9: 109,828,901 (GRCm39)	N95K	probably benign	Het
Mrgprx3-ps	T	A	7: 46,959,263 (GRCm39)		noncoding transcript	Het
Mroh9	T	C	1: 162,903,149 (GRCm39)	M85V	probably benign	Het
Nrcam	T	C	12: 44,617,313 (GRCm39)	V737A	probably damaging	Het
Oprm1	A	G	10: 6,780,219 (GRCm39)	T294A	probably damaging	Het
Or10d5j	T	C	9: 39,868,198 (GRCm39)	E11G	probably damaging	Het
Or5w17	A	T	2: 87,583,927 (GRCm39)	S137T	possibly damaging	Het
Or7g32	C	T	9: 19,408,559 (GRCm39)	Q172*	probably null	Het
Parvg	A	G	15: 84,214,283 (GRCm39)	R156G	possibly damaging	Het
Pclo	T	C	5: 14,590,189 (GRCm39)	S830P	unknown	Het
Pde11a	T	C	2: 75,988,737 (GRCm39)	D468G	possibly damaging	Het
Peak1	A	T	9: 56,134,757 (GRCm39)	S195T	possibly damaging	Het
Pkhd1	A	G	1: 20,434,425 (GRCm39)	Y2338H	probably damaging	Het
Ppp1r1b	A	T	11: 98,241,395 (GRCm39)	I28F	probably damaging	Het
Prpf8	A	G	11: 75,400,084 (GRCm39)	Y2326C	probably benign	Het
Psmd1	T	A	1: 86,006,302 (GRCm39)	L223I	probably damaging	Het
Runx3	T	A	4: 134,902,841 (GRCm39)	Y310N	probably damaging	Het
Secisbp2l	C	T	2: 125,615,398 (GRCm39)	D76N	possibly damaging	Het
Slfn4	A	T	11: 83,077,584 (GRCm39)	N124I	probably damaging	Het
Spata13	G	A	14: 60,944,163 (GRCm39)	V519I	probably benign	Het
Ssh3	C	T	19: 4,314,460 (GRCm39)	E365K	probably damaging	Het
Strc	A	G	2: 121,206,272 (GRCm39)		probably benign	Het
Tdp2	T	A	13: 25,025,245 (GRCm39)	I338N	probably damaging	Het
Vmn1r13	A	T	6: 57,187,457 (GRCm39)	R205S	probably damaging	Het
Wdr19	G	T	5: 65,382,102 (GRCm39)	A441S	probably benign	Het
Ylpm1	A	G	12: 85,077,037 (GRCm39)	D796G	probably damaging	Het
Zbtb11	T	C	16: 55,821,038 (GRCm39)	S712P	probably damaging	Het
Zcchc14	A	G	8: 122,333,009 (GRCm39)		probably benign	Het
Zfp608	T	G	18: 55,032,405 (GRCm39)	S512R	probably damaging	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
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