Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02085:Npy6r'

283498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npy6r

Ensembl Gene

ENSMUSG00000038071

Gene Name

neuropeptide Y receptor Y6

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02085

Quality Score

Status

Chromosome

Chromosomal Location

44270127-44277700 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44275931 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 140 (N140D)

Ref Sequence

ENSEMBL: ENSMUSP00000040797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042747]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042747
AA Change: N140D

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

SMART Domains

Protein: ENSMUSP00000040797
Gene: ENSMUSG00000038071
AA Change: N140D

Domain	Start	End	E-Value	Type
low complexity region	33	41	N/A	INTRINSIC
Pfam:7tm_1	52	318	3.5e-51	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a reporter allele exhibit enhanced performance on the rotarod test. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,281,557		probably null	Het
Akr1c14	T	A	13: 4,078,035	C145*	probably null	Het
Arhgef26	A	G	3: 62,459,724		probably benign	Het
Asb9	A	G	X: 164,535,456	M215V	probably benign	Het
Atoh8	C	A	6: 72,235,173		probably benign	Het
Atp6v1b1	T	A	6: 83,753,915		probably benign	Het
Cep97	T	C	16: 55,915,505	E310G	probably damaging	Het
Ctrc	C	T	4: 141,843,714	D72N	possibly damaging	Het
Dnah2	A	G	11: 69,458,185	I2492T	probably benign	Het
Emilin2	A	G	17: 71,275,149	V194A	probably damaging	Het
Epb41l5	T	C	1: 119,572,856	T524A	probably benign	Het
Fam91a1	A	G	15: 58,441,656	N497S	possibly damaging	Het
Gabpb1	A	T	2: 126,639,271	C319*	probably null	Het
Galnt10	A	G	11: 57,782,278	T487A	probably benign	Het
Hecw2	T	A	1: 53,942,802		probably null	Het
Hmg20a	C	T	9: 56,477,302	Q119*	probably null	Het
Ifi44l	A	G	3: 151,762,840	S18P	unknown	Het
Immt	T	A	6: 71,851,836	V125E	probably benign	Het
Ints13	T	C	6: 146,549,939		probably benign	Het
Lrp1b	C	T	2: 40,889,309	G2574S	probably benign	Het
Myoc	T	C	1: 162,639,774	C171R	probably benign	Het
Ncbp1	C	T	4: 46,159,699	T404M	probably damaging	Het
Nrxn2	A	T	19: 6,492,868	M1041L	possibly damaging	Het
Nsmaf	G	A	4: 6,398,551	P851L	probably benign	Het
Nutm2	T	A	13: 50,473,793		probably null	Het
Olfr117	A	G	17: 37,659,688	V215A	probably benign	Het
Olfr1314	A	C	2: 112,092,524	M59R	probably damaging	Het
Olfr1329	A	G	4: 118,916,750	F239S	probably damaging	Het
Padi2	T	G	4: 140,927,157	Y206*	probably null	Het
Pcdh19	A	T	X: 133,681,258	Y766*	probably null	Het
Pde12	A	G	14: 26,666,464		probably benign	Het
Ppl	C	T	16: 5,089,816	G872R	probably benign	Het
Prkag3	C	T	1: 74,748,812		probably benign	Het
Ptgfr	T	C	3: 151,835,800	T24A	probably benign	Het
Rpe65	T	C	3: 159,615,646	V365A	probably benign	Het
Shank3	T	C	15: 89,503,915		probably null	Het
Slco1a6	T	C	6: 142,086,474	T642A	probably benign	Het
Slco6d1	C	A	1: 98,443,743	P275T	probably damaging	Het
Smarca1	G	T	X: 47,875,232	Q343K	probably damaging	Het
Smoc2	A	G	17: 14,347,233	T180A	possibly damaging	Het
Tfrc	G	A	16: 32,621,186	V406I	probably benign	Het
Tigit	C	T	16: 43,649,110	G206D	probably benign	Het
Triobp	G	A	15: 78,974,297		probably benign	Het
Trmo	T	C	4: 46,380,217	Y384C	probably damaging	Het
Vmn1r89	T	A	7: 13,219,538	I67N	probably damaging	Het
Wdr17	C	A	8: 54,687,736	E194*	probably null	Het

Other mutations in Npy6r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Npy6r	APN	18	44276444	missense	probably damaging	1.00
IGL00767:Npy6r	APN	18	44276318	missense	probably benign	0.01
IGL01103:Npy6r	APN	18	44275518	missense	probably benign	0.15
IGL02653:Npy6r	APN	18	44276627	makesense	probably null
IGL03305:Npy6r	APN	18	44275854	missense	probably damaging	1.00
R0588:Npy6r	UTSW	18	44275821	missense	possibly damaging	0.94
R1993:Npy6r	UTSW	18	44276508	missense	probably damaging	1.00
R2039:Npy6r	UTSW	18	44276003	missense	probably benign
R2567:Npy6r	UTSW	18	44275821	missense	possibly damaging	0.68
R4572:Npy6r	UTSW	18	44275917	missense	probably benign	0.03
R4584:Npy6r	UTSW	18	44276195	missense	probably damaging	1.00
R4611:Npy6r	UTSW	18	44276401	missense	probably damaging	1.00
R4741:Npy6r	UTSW	18	44275724	missense	probably damaging	1.00
R5145:Npy6r	UTSW	18	44276619	missense	probably benign	0.04
R5603:Npy6r	UTSW	18	44276585	missense	probably damaging	1.00
R5610:Npy6r	UTSW	18	44275994	missense	probably benign
R6030:Npy6r	UTSW	18	44276082	missense	probably benign	0.02
R6030:Npy6r	UTSW	18	44276082	missense	probably benign	0.02
R6083:Npy6r	UTSW	18	44276492	missense	probably damaging	0.99
R6364:Npy6r	UTSW	18	44276511	missense	possibly damaging	0.86
R7146:Npy6r	UTSW	18	44275721	missense	probably benign	0.30
R7178:Npy6r	UTSW	18	44276484	missense	probably damaging	1.00
R7180:Npy6r	UTSW	18	44276156	missense	probably benign
R7203:Npy6r	UTSW	18	44275932	missense	probably damaging	1.00
R7448:Npy6r	UTSW	18	44276193	missense	probably damaging	1.00

Posted On

2015-04-16