Mutagenetix > Incidental Mutation

Incidental Mutation 'R7735:Npffr2'

596188

Institutional Source

Beutler Lab

Gene Symbol

Npffr2

Ensembl Gene

ENSMUSG00000035528

Gene Name

neuropeptide FF receptor 2

Synonyms

Gpr74, NPFF2

MMRRC Submission

045791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89675288-89731599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89731173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 368 (I368V)

Ref Sequence

ENSEMBL: ENSMUSP00000040033 (fasta)

Gene Model

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

AlphaFold

Q924H0

Predicted Effect

probably benign
Transcript: ENSMUST00000048557
AA Change: I368V

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

SMART Domains

Protein: ENSMUSP00000040033
Gene: ENSMUSG00000035528
AA Change: I368V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,655,629 (GRCm39)	T617A	probably benign	Het
Agl	A	T	3: 116,578,795 (GRCm39)	I446N	probably benign	Het
Aox1	C	T	1: 58,107,451 (GRCm39)	P575L	probably benign	Het
Ap2m1	A	T	16: 20,358,269 (GRCm39)	I96F	probably benign	Het
Arhgap15	A	G	2: 44,006,642 (GRCm39)	D253G	probably damaging	Het
Arsa	A	T	15: 89,359,152 (GRCm39)	C171*	probably null	Het
Arsb	G	T	13: 93,908,491 (GRCm39)	R69L	probably benign	Het
Asb13	G	A	13: 3,684,180 (GRCm39)		probably null	Het
Canx	G	T	11: 50,191,866 (GRCm39)	D348E	probably damaging	Het
Cebpz	C	T	17: 79,233,342 (GRCm39)		probably null	Het
Ces2h	A	T	8: 105,741,127 (GRCm39)	I40L	probably benign	Het
Cfhr4	A	G	1: 139,660,039 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,350,723 (GRCm39)		probably null	Het
Cxadr	T	A	16: 78,125,949 (GRCm39)	N106K	possibly damaging	Het
Ddo	T	C	10: 40,507,770 (GRCm39)	C56R	probably benign	Het
Dnah6	C	T	6: 73,046,412 (GRCm39)	G3192D	probably damaging	Het
Efcab3	T	A	11: 104,962,465 (GRCm39)	V49E	probably benign	Het
Epha10	T	C	4: 124,807,472 (GRCm39)	Y578H		Het
Fbxw16	T	C	9: 109,270,135 (GRCm39)	D202G	probably damaging	Het
Gzf1	T	C	2: 148,530,083 (GRCm39)	V538A	possibly damaging	Het
Igha	T	A	12: 113,220,019 (GRCm39)		probably benign	Het
Iqce	G	T	5: 140,663,839 (GRCm39)	Q457K	probably benign	Het
Kbtbd3	A	G	9: 4,330,846 (GRCm39)	K407E	possibly damaging	Het
Lipt1	A	G	1: 37,914,703 (GRCm39)	E253G	probably damaging	Het
Mrnip	G	A	11: 50,087,800 (GRCm39)	W107*	probably null	Het
Mroh4	T	C	15: 74,497,357 (GRCm39)	T224A	probably damaging	Het
Ncoa2	A	T	1: 13,218,661 (GRCm39)	S1389R	probably benign	Het
Nrdc	C	T	4: 108,895,182 (GRCm39)	L469F	probably damaging	Het
Nup210l	A	T	3: 90,092,883 (GRCm39)	Q1279L	probably damaging	Het
Or4k47	T	A	2: 111,451,819 (GRCm39)	N200I	probably damaging	Het
Or7e170	A	G	9: 19,795,410 (GRCm39)	Y64H	probably damaging	Het
Pcdha4	T	G	18: 37,085,961 (GRCm39)	I48S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,101 (GRCm39)	Y211C	possibly damaging	Het
Prrt4	A	T	6: 29,170,035 (GRCm39)	S806T	possibly damaging	Het
Ptpn20	T	A	14: 33,352,902 (GRCm39)	Y214N	probably damaging	Het
Ptprt	A	T	2: 161,417,661 (GRCm39)	N938K	probably damaging	Het
Scn2a	G	T	2: 65,594,013 (GRCm39)	V1621L	probably benign	Het
Senp3	A	G	11: 69,569,087 (GRCm39)	I358T	probably damaging	Het
Sf3b1	A	T	1: 55,042,508 (GRCm39)	S461T	probably benign	Het
Slc22a2	C	T	17: 12,828,917 (GRCm39)	T341I	probably damaging	Het
Slc38a7	A	T	8: 96,568,295 (GRCm39)	D363E	probably benign	Het
Slc6a5	T	C	7: 49,598,090 (GRCm39)		probably null	Het
Smo	T	A	6: 29,759,851 (GRCm39)	V650E	probably damaging	Het
Spata17	G	A	1: 186,872,577 (GRCm39)	T31I	unknown	Het
Sstr2	T	A	11: 113,515,423 (GRCm39)	I114N	possibly damaging	Het
Styxl1	T	C	5: 135,788,023 (GRCm39)	Y146C	probably damaging	Het
Synpo2l	T	C	14: 20,711,243 (GRCm39)	Q688R	possibly damaging	Het
Tmem245	C	T	4: 56,925,155 (GRCm39)	R322H	probably benign	Het
Tnxb	A	G	17: 34,890,398 (GRCm39)	E247G	unknown	Het
Ttc28	A	T	5: 111,414,544 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,718,416 (GRCm39)	I7255N	unknown	Het
Ttn	C	A	2: 76,652,768 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,165,791 (GRCm39)	R204C	probably damaging	Het
Utrn	A	G	10: 12,619,787 (GRCm39)		probably null	Het
Vps53	A	T	11: 75,937,962 (GRCm39)	F753I	probably damaging	Het
Ypel1	G	T	16: 16,918,124 (GRCm39)	S97R	probably benign	Het
Zdbf2	A	G	1: 63,343,264 (GRCm39)	T548A	possibly damaging	Het
Zfp747	G	A	7: 126,973,672 (GRCm39)	T166M	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
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
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'- GATGCTCTCAGACTATACTGACC -3'
(R):5'- ATGGCATCAGGTAGCACTGG -3'

Sequencing Primer
(F):5'- TGACCTGTCTCCTAACAAACTGCG -3'
(R):5'- GGGGTCCACACGATCTTTTTAAGC -3'

Posted On

2019-11-26