Mutagenetix > Incidental Mutation

Incidental Mutation 'R1736:Npffr2'

199707

Institutional Source

Beutler Lab

Gene Symbol

Npffr2

Ensembl Gene

ENSMUSG00000035528

Gene Name

neuropeptide FF receptor 2

Synonyms

Gpr74, NPFF2

MMRRC Submission

039768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1736 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89675288-89731599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89715925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 84 (I84N)

Ref Sequence

ENSEMBL: ENSMUSP00000040033 (fasta)

Gene Model

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

AlphaFold

Q924H0

Predicted Effect

probably damaging
Transcript: ENSMUST00000048557
AA Change: I84N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040033
Gene: ENSMUSG00000035528
AA Change: I84N

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

0.7045

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (57/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy3	A	G	12: 4,250,998 (GRCm39)	N586D	possibly damaging	Het
Ak6	T	A	13: 100,791,689 (GRCm39)		probably null	Het
Ankrd66	T	C	17: 43,854,409 (GRCm39)	D41G	probably benign	Het
Atp8b2	G	A	3: 89,860,001 (GRCm39)	P339S	probably damaging	Het
Cacna1d	C	T	14: 29,811,820 (GRCm39)	V1297I	probably damaging	Het
Cbl	A	T	9: 44,064,192 (GRCm39)	D781E	possibly damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clint1	A	G	11: 45,797,004 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,706,781 (GRCm39)	Y2111H	unknown	Het
Csnk1g1	A	G	9: 65,927,197 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,145 (GRCm39)	N648K	probably damaging	Het
Dsp	A	G	13: 38,376,966 (GRCm39)	K1584E	probably benign	Het
Ezh2	A	T	6: 47,553,594 (GRCm39)	M41K	probably damaging	Het
Fscn2	G	A	11: 120,258,852 (GRCm39)	G466S	probably damaging	Het
Garin5b	A	G	7: 4,761,153 (GRCm39)	S520P	probably damaging	Het
Gm15217	A	G	14: 46,620,663 (GRCm39)		probably benign	Het
Gm9696	T	C	3: 59,879,696 (GRCm39)		noncoding transcript	Het
Gosr2	G	A	11: 103,570,076 (GRCm39)	Q162*	probably null	Het
Hectd4	T	A	5: 121,487,593 (GRCm39)	H3529Q	possibly damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2c	A	T	5: 25,495,525 (GRCm39)	I4074K	probably damaging	Het
Ly6g2	G	A	15: 75,089,569 (GRCm39)	G26R	probably damaging	Het
Map3k11	A	G	19: 5,747,429 (GRCm39)	D555G	probably benign	Het
Mindy2	A	G	9: 70,538,312 (GRCm39)	I341T	probably damaging	Het
Mrnip	G	A	11: 50,067,718 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,412,844 (GRCm39)	C1930Y	unknown	Het
Nfatc3	T	G	8: 106,805,482 (GRCm39)	I109S	probably damaging	Het
Npas1	G	T	7: 16,208,541 (GRCm39)	A112D	probably benign	Het
Nxph4	T	A	10: 127,362,465 (GRCm39)	H142L	probably damaging	Het
Otud4	T	A	8: 80,378,294 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,093,705 (GRCm39)		probably null	Het
Pigr	G	A	1: 130,769,540 (GRCm39)	R117Q	possibly damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prex2	T	A	1: 11,160,108 (GRCm39)		probably benign	Het
Sall4	G	A	2: 168,594,555 (GRCm39)	P420L	probably benign	Het
Sap30bp	A	G	11: 115,855,046 (GRCm39)	K252R	probably damaging	Het
Sec63	T	A	10: 42,703,914 (GRCm39)	Y692*	probably null	Het
Sema3e	C	T	5: 14,260,390 (GRCm39)	T181M	probably damaging	Het
Sf3b3	T	C	8: 111,540,464 (GRCm39)	I986V	probably benign	Het
Shisa4	A	T	1: 135,299,700 (GRCm39)	Y194*	probably null	Het
Slc17a6	G	A	7: 51,311,333 (GRCm39)		probably benign	Het
Smg1	T	G	7: 117,765,190 (GRCm39)		probably null	Het
Smim7	C	T	8: 73,324,849 (GRCm39)	G9R	probably damaging	Het
Spata31d1d	C	T	13: 59,874,311 (GRCm39)	G1075R	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stag3	T	C	5: 138,302,771 (GRCm39)		probably benign	Het
Tbce	A	G	13: 14,184,227 (GRCm39)	I217T	possibly damaging	Het
Tpk1	G	A	6: 43,588,284 (GRCm39)	P27S	probably benign	Het
Tsc22d1	A	G	14: 76,655,797 (GRCm39)	I2V	probably benign	Het
Tulp4	T	G	17: 6,283,490 (GRCm39)	V1173G	possibly damaging	Het
Uchl1	T	C	5: 66,834,417 (GRCm39)		probably null	Het
Ugt2b38	T	A	5: 87,571,492 (GRCm39)	Q180L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCGAGAAATGGGACTCAAACTC -3'
(R):5'- ATGAACGAATGACTCTGCTCGGAC -3'

Sequencing Primer
(F):5'- TCACATCTGGAGTGGCAATGATAC -3'
(R):5'- ACTCTGGGTATGTGTGGAAAC -3'

Posted On

2014-05-23