Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Npffr1'

365798

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npffr1

Ensembl Gene

ENSMUSG00000020090

Gene Name

neuropeptide FF receptor 1

Synonyms

Gpr147, LOC237362, NPFF1, NPFF1R

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

61431271-61464344 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61449918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

Ref Sequence

ENSEMBL: ENSMUSP00000020287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020287]

AlphaFold

E9Q468

Predicted Effect

probably damaging
Transcript: ENSMUST00000020287
AA Change: V64A

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

SMART Domains

Protein: ENSMUSP00000020287
Gene: ENSMUSG00000020090
AA Change: V64A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	54	346	3.3e-8	PFAM
Pfam:7tm_1	60	331	3.7e-56	PFAM
low complexity region	368	378	N/A	INTRINSIC
low complexity region	380	398	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186677

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display abnormal pituitary function with abnormal levels of follicle stimulating and luteinizing hormone levels and increased litter sizes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 103,953,564 (GRCm39)	T130I	probably benign	Het
Ahi1	T	C	10: 20,876,450 (GRCm39)	L787P	possibly damaging	Het
Atf3	A	G	1: 190,909,640 (GRCm39)	S10P	probably benign	Het
Cdr2l	A	G	11: 115,281,726 (GRCm39)	N77S	probably damaging	Het
Cnp	A	G	11: 100,467,525 (GRCm39)	D156G	probably benign	Het
Cntn3	A	T	6: 102,145,894 (GRCm39)	D982E	probably damaging	Het
Col22a1	A	G	15: 71,878,587 (GRCm39)	L190S	probably damaging	Het
Csmd3	C	T	15: 47,777,325 (GRCm39)		probably benign	Het
Dnah5	A	G	15: 28,384,607 (GRCm39)	D3117G	probably damaging	Het
Dock5	T	C	14: 67,994,558 (GRCm39)	E1834G	probably null	Het
Eea1	A	G	10: 95,877,389 (GRCm39)	T1368A	probably benign	Het
Fam83f	T	C	15: 80,556,350 (GRCm39)	V78A	probably benign	Het
Fcgbp	G	A	7: 27,800,898 (GRCm39)	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,198,671 (GRCm39)	Y364*	probably null	Het
Gm21976	G	A	13: 98,439,057 (GRCm39)	G16R	probably null	Het
Guca2b	A	G	4: 119,514,885 (GRCm39)	S59P	probably damaging	Het
Hars2	A	G	18: 36,919,231 (GRCm39)	E123G	probably damaging	Het
Hdac2	A	T	10: 36,876,370 (GRCm39)	K462*	probably null	Het
Huwe1	T	A	X: 150,710,622 (GRCm39)		probably benign	Het
Iqgap3	T	A	3: 87,997,611 (GRCm39)	N262K	probably benign	Het
Kat6b	A	G	14: 21,719,826 (GRCm39)	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,134,279 (GRCm39)	D328E	probably benign	Het
Naca	C	T	10: 127,877,437 (GRCm39)		probably benign	Het
Oga	A	G	19: 45,750,682 (GRCm39)	F671S	probably damaging	Het
Or2t49	A	G	11: 58,393,211 (GRCm39)	L57P	probably damaging	Het
Or8b3b	T	A	9: 38,584,564 (GRCm39)	M72L	probably damaging	Het
Pcca	A	G	14: 123,126,945 (GRCm39)	D718G	probably damaging	Het
Pde6a	A	C	18: 61,397,326 (GRCm39)	D670A	probably damaging	Het
Pramel7	T	A	2: 87,320,417 (GRCm39)	E292V	probably benign	Het
Prmt9	A	C	8: 78,291,698 (GRCm39)	M357L	probably benign	Het
Ptgfr	A	T	3: 151,540,963 (GRCm39)	S182T	probably benign	Het
Rtraf	A	T	14: 19,866,260 (GRCm39)	M152K	possibly damaging	Het
Satb1	T	C	17: 52,049,717 (GRCm39)	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 34,115,453 (GRCm39)		probably null	Het
Slc5a9	T	C	4: 111,747,497 (GRCm39)	I297V	possibly damaging	Het
Slf1	T	A	13: 77,195,223 (GRCm39)		probably benign	Het
St8sia2	C	T	7: 73,616,559 (GRCm39)	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,666,243 (GRCm39)	M262V	probably benign	Het
Tmem147	A	G	7: 30,428,847 (GRCm39)		probably benign	Het
Tmem220	A	G	11: 66,924,933 (GRCm39)		probably null	Het
Uspl1	A	G	5: 149,125,156 (GRCm39)	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,759 (GRCm39)	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 123,037,591 (GRCm39)	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,189,945 (GRCm39)	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,519,940 (GRCm39)	M57K	probably benign	Het

Other mutations in Npffr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Npffr1	APN	10	61,449,987 (GRCm39)	missense	probably damaging	0.97
R0893:Npffr1	UTSW	10	61,450,010 (GRCm39)	missense	possibly damaging	0.88
R1528:Npffr1	UTSW	10	61,450,016 (GRCm39)	missense	possibly damaging	0.66
R1568:Npffr1	UTSW	10	61,462,012 (GRCm39)	missense	possibly damaging	0.92
R7567:Npffr1	UTSW	10	61,462,088 (GRCm39)	missense	probably benign	0.31
R7857:Npffr1	UTSW	10	61,449,765 (GRCm39)	missense	probably benign	0.01
R8111:Npffr1	UTSW	10	61,459,128 (GRCm39)	missense	probably damaging	0.99
R8113:Npffr1	UTSW	10	61,449,750 (GRCm39)	missense	possibly damaging	0.79
R8872:Npffr1	UTSW	10	61,461,794 (GRCm39)	missense	probably benign	0.00
R8889:Npffr1	UTSW	10	61,449,939 (GRCm39)	missense	possibly damaging	0.66
R8892:Npffr1	UTSW	10	61,449,939 (GRCm39)	missense	possibly damaging	0.66
X0024:Npffr1	UTSW	10	61,461,841 (GRCm39)	missense	possibly damaging	0.91

Posted On

2015-12-18