Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Npy5r'

283930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npy5r

Ensembl Gene

ENSMUSG00000044014

Gene Name

neuropeptide Y receptor Y5

Synonyms

Y5R

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

67132617-67140746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67133998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 265 (H265L)

Ref Sequence

ENSEMBL: ENSMUSP00000148589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070810] [ENSMUST00000211920] [ENSMUST00000212563]

AlphaFold

O70342

Predicted Effect

probably benign
Transcript: ENSMUST00000070810
AA Change: H265L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000065157
Gene: ENSMUSG00000044014
AA Change: H265L

Domain	Start	End	E-Value	Type
internal_repeat_1	15	36	1.53e-7	PROSPERO
internal_repeat_1	36	57	1.53e-7	PROSPERO
Pfam:7TM_GPCR_Srsx	73	253	1.9e-10	PFAM
Pfam:7tm_1	79	445	2.9e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211920
AA Change: H265L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000212563
AA Change: H265L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for neuropeptide Y and peptide YY. The encoded protein appears to be involved in regulating food intake, with defects in this gene being associated with eating disorders. Also, the encoded protein is involved in a pathway that protects neuroblastoma cells from chemotherapy-induced cell death, providing a possible therapeutic target against neuroblastoma. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes for a null allele show increased susceptibility to diet-induced obesity and a reduced orexigenic response to select agonists. Homozygotes for a reporter allele show mild late-onset obesity, increased adiposity, polyphagia, and exacerbated obesity parameters after chronic NPY infusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Chat	T	C	14: 32,145,279 (GRCm39)	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fam184b	G	T	5: 45,695,062 (GRCm39)	D727E	probably benign	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Hnf1a	A	T	5: 115,098,177 (GRCm39)	S142T	probably damaging	Het
Itgb3	A	G	11: 104,534,765 (GRCm39)	I541V	probably benign	Het
Itgbl1	G	T	14: 124,081,338 (GRCm39)	C239F	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Larp1b	G	T	3: 40,921,929 (GRCm39)	S116I	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,030,663 (GRCm39)	V183A	probably benign	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Or8k16	G	A	2: 85,520,472 (GRCm39)	G233D	possibly damaging	Het
Pop1	A	G	15: 34,529,217 (GRCm39)	E749G	probably benign	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Usp50	G	A	2: 126,619,958 (GRCm39)	T118I	possibly damaging	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Npy5r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01289:Npy5r	APN	8	67,134,518 (GRCm39)	missense	possibly damaging	0.47
oleo	UTSW	8	67,134,693 (GRCm39)	nonsense	probably null
roly-poly	UTSW	8	67,134,192 (GRCm39)	frame shift	probably null
R0395:Npy5r	UTSW	8	67,134,625 (GRCm39)	missense	probably benign	0.21
R1547:Npy5r	UTSW	8	67,133,686 (GRCm39)	missense	possibly damaging	0.52
R1616:Npy5r	UTSW	8	67,134,052 (GRCm39)	missense	probably damaging	1.00
R1906:Npy5r	UTSW	8	67,134,125 (GRCm39)	missense	probably damaging	1.00
R1965:Npy5r	UTSW	8	67,133,929 (GRCm39)	missense	probably benign
R2443:Npy5r	UTSW	8	67,133,942 (GRCm39)	nonsense	probably null
R4087:Npy5r	UTSW	8	67,134,697 (GRCm39)	missense	probably damaging	0.98
R4204:Npy5r	UTSW	8	67,134,693 (GRCm39)	nonsense	probably null
R4404:Npy5r	UTSW	8	67,134,644 (GRCm39)	missense	probably benign	0.01
R5427:Npy5r	UTSW	8	67,133,672 (GRCm39)	missense	probably damaging	0.98
R5530:Npy5r	UTSW	8	67,133,512 (GRCm39)	missense	probably benign	0.06
R5994:Npy5r	UTSW	8	67,134,751 (GRCm39)	missense	probably benign	0.06
R6041:Npy5r	UTSW	8	67,134,675 (GRCm39)	missense	possibly damaging	0.72
R6602:Npy5r	UTSW	8	67,134,192 (GRCm39)	frame shift	probably null
R6837:Npy5r	UTSW	8	67,134,392 (GRCm39)	missense	probably benign	0.00
R7879:Npy5r	UTSW	8	67,133,968 (GRCm39)	missense	possibly damaging	0.92
R7923:Npy5r	UTSW	8	67,134,404 (GRCm39)	missense	probably damaging	1.00
R8534:Npy5r	UTSW	8	67,134,688 (GRCm39)	missense	probably benign	0.00
R8699:Npy5r	UTSW	8	67,134,274 (GRCm39)	missense	probably damaging	1.00
R9094:Npy5r	UTSW	8	67,133,560 (GRCm39)	missense	probably damaging	1.00
R9338:Npy5r	UTSW	8	67,134,658 (GRCm39)	missense	probably benign	0.00
R9436:Npy5r	UTSW	8	67,133,483 (GRCm39)	missense	probably damaging	1.00
R9501:Npy5r	UTSW	8	67,134,137 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16