Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02651:Npy1r'

302134

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npy1r

Ensembl Gene

ENSMUSG00000036437

Gene Name

neuropeptide Y receptor Y1

Synonyms

Npyr, Y1-R

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL02651

Quality Score

Status

Chromosome

Chromosomal Location

67149844-67159444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67157675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 328 (R328S)

Ref Sequence

ENSEMBL: ENSMUSP00000148417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039303] [ENSMUST00000212588]

AlphaFold

Q04573

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039303
AA Change: R328S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045530
Gene: ENSMUSG00000036437
AA Change: R328S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	50	334	7.8e-11	PFAM
Pfam:7tm_1	56	319	1.1e-54	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212588
AA Change: R328S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

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 belongs to the G-protein-coupled receptor superfamily. The encoded transmembrane protein mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrointestinal hormone. The encoded receptor undergoes fast agonist-induced internalization through clathrin-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 receptors may result in mobilization of intracellular calcium and inhibition of adenylate cyclase activity. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit moderate obesity, mild hyperinsulinemia, reduced activity and energy expenditure, lowered fast-induced refeeding, hyperalgesia, increased neuropathic pain, and resistance to barbiturates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,909,906 (GRCm39)	G233S	probably benign	Het
Abcc1	T	A	16: 14,283,990 (GRCm39)	C1202S	probably benign	Het
Acaca	C	T	11: 84,136,030 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,613,529 (GRCm39)	F676Y	probably damaging	Het
Arhgef11	C	A	3: 87,606,171 (GRCm39)	Q309K	probably damaging	Het
Asgr1	T	C	11: 69,947,956 (GRCm39)	Y80H	possibly damaging	Het
Atp13a5	A	T	16: 29,152,909 (GRCm39)		probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atp8b2	A	C	3: 89,861,896 (GRCm39)		probably null	Het
Btnl2	A	G	17: 34,575,196 (GRCm39)	M1V	probably null	Het
Cpsf3	T	A	12: 21,343,298 (GRCm39)	M121K	probably damaging	Het
Creb3l3	A	G	10: 80,920,668 (GRCm39)	I454T	probably benign	Het
Cyp2d12	A	G	15: 82,440,941 (GRCm39)	E153G	probably damaging	Het
Dnah5	A	G	15: 28,350,768 (GRCm39)	I2597V	probably benign	Het
Ercc5	C	A	1: 44,196,104 (GRCm39)	S32R	probably damaging	Het
Fchsd2	T	A	7: 100,926,807 (GRCm39)	N656K	possibly damaging	Het
Fga	G	A	3: 82,935,841 (GRCm39)	E23K	probably benign	Het
Fn1	T	C	1: 71,636,835 (GRCm39)	T1925A	possibly damaging	Het
Fstl5	A	T	3: 76,500,841 (GRCm39)	E423D	probably damaging	Het
Glg1	C	T	8: 111,887,359 (GRCm39)	M465I	possibly damaging	Het
H2-M10.4	C	A	17: 36,771,548 (GRCm39)	R210L	probably benign	Het
Hbb-y	T	G	7: 103,501,957 (GRCm39)	K105Q	probably benign	Het
Hspg2	A	T	4: 137,284,756 (GRCm39)		probably benign	Het
Ipo11	T	C	13: 107,012,114 (GRCm39)	Y556C	probably damaging	Het
Itpr3	A	G	17: 27,325,372 (GRCm39)	M1322V	probably damaging	Het
Jhy	A	G	9: 40,828,631 (GRCm39)	L425P	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Ms4a6c	A	T	19: 11,455,669 (GRCm39)	E159D	possibly damaging	Het
Msh6	A	T	17: 88,296,943 (GRCm39)	L1213F	probably damaging	Het
Or4a74	A	T	2: 89,439,842 (GRCm39)	N201K	possibly damaging	Het
Or5ak20	A	C	2: 85,183,394 (GRCm39)	L292R	probably damaging	Het
Pcdhb18	T	G	18: 37,624,234 (GRCm39)	Y521*	probably null	Het
Pkhd1l1	A	T	15: 44,347,210 (GRCm39)	Y192F	probably damaging	Het
Rdh12	T	A	12: 79,268,826 (GRCm39)	I301N	probably damaging	Het
Rptor	T	C	11: 119,783,438 (GRCm39)	V1144A	possibly damaging	Het
Sap25	T	C	5: 137,640,632 (GRCm39)	F171L	possibly damaging	Het
Senp5	A	G	16: 31,808,897 (GRCm39)	L92P	probably benign	Het
Sfmbt1	T	C	14: 30,537,494 (GRCm39)	S736P	probably damaging	Het
Tacr1	T	C	6: 82,469,622 (GRCm39)	S169P	probably damaging	Het
Tbc1d21	A	T	9: 58,270,384 (GRCm39)	Y130*	probably null	Het
Tle2	G	A	10: 81,422,723 (GRCm39)	G428D	probably damaging	Het
Tmem117	T	A	15: 94,992,442 (GRCm39)	N367K	probably damaging	Het
Tmem210	A	G	2: 25,179,101 (GRCm39)	T130A	possibly damaging	Het
Ttn	T	G	2: 76,680,368 (GRCm39)		probably benign	Het
Ttyh1	T	C	7: 4,127,678 (GRCm39)	L122P	probably damaging	Het
Vmn2r60	T	C	7: 41,845,010 (GRCm39)	F791S	probably damaging	Het
Vps13d	A	T	4: 144,891,129 (GRCm39)	N575K	probably benign	Het
Vps8	T	C	16: 21,336,086 (GRCm39)	V746A	probably damaging	Het
Wdfy3	A	T	5: 102,044,341 (GRCm39)	M1888K	probably benign	Het
Zfp595	T	C	13: 67,469,017 (GRCm39)	D3G	probably benign	Het

Other mutations in Npy1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Npy1r	APN	8	67,157,428 (GRCm39)	missense	probably benign
IGL01629:Npy1r	APN	8	67,156,873 (GRCm39)	missense	probably benign	0.01
IGL02338:Npy1r	APN	8	67,156,954 (GRCm39)	missense	probably damaging	1.00
Bowery	UTSW	8	67,156,855 (GRCm39)	missense	probably damaging	1.00
marmot	UTSW	8	67,156,941 (GRCm39)	nonsense	probably null
PIT4576001:Npy1r	UTSW	8	67,156,874 (GRCm39)	missense	probably benign	0.03
R0534:Npy1r	UTSW	8	67,157,670 (GRCm39)	missense	probably damaging	1.00
R1518:Npy1r	UTSW	8	67,156,847 (GRCm39)	missense	probably benign	0.05
R1575:Npy1r	UTSW	8	67,156,813 (GRCm39)	missense	probably damaging	1.00
R1768:Npy1r	UTSW	8	67,157,177 (GRCm39)	missense	possibly damaging	0.49
R2144:Npy1r	UTSW	8	67,157,836 (GRCm39)	missense	probably benign	0.18
R2280:Npy1r	UTSW	8	67,156,711 (GRCm39)	missense	possibly damaging	0.94
R3775:Npy1r	UTSW	8	67,157,502 (GRCm39)	missense	possibly damaging	0.90
R5678:Npy1r	UTSW	8	67,156,855 (GRCm39)	missense	probably damaging	1.00
R6721:Npy1r	UTSW	8	67,156,941 (GRCm39)	nonsense	probably null
R7050:Npy1r	UTSW	8	67,157,192 (GRCm39)	missense	probably benign
R7250:Npy1r	UTSW	8	67,157,712 (GRCm39)	missense	probably benign	0.00
R7531:Npy1r	UTSW	8	67,157,546 (GRCm39)	missense	probably damaging	0.98
R7827:Npy1r	UTSW	8	67,156,864 (GRCm39)	missense	possibly damaging	0.57
R8123:Npy1r	UTSW	8	67,157,619 (GRCm39)	missense	probably damaging	0.99
R9058:Npy1r	UTSW	8	67,156,600 (GRCm39)	missense	probably benign
R9343:Npy1r	UTSW	8	67,156,751 (GRCm39)	missense	probably damaging	1.00
R9378:Npy1r	UTSW	8	67,156,861 (GRCm39)	missense	probably damaging	1.00
R9775:Npy1r	UTSW	8	67,157,742 (GRCm39)	missense	possibly damaging	0.47
X0022:Npy1r	UTSW	8	67,157,761 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16