Mutagenetix > Incidental Mutations

Incidental Mutation 'R0588:Npy6r'

55850

Institutional Source

Beutler Lab

Gene Symbol

Npy6r

Ensembl Gene

ENSMUSG00000038071

Gene Name

neuropeptide Y receptor Y6

Synonyms

MMRRC Submission

038778-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0588 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44270127-44277700 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44275821 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 103 (V103E)

Ref Sequence

ENSEMBL: ENSMUSP00000040797 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042747
AA Change: V103E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040797
Gene: ENSMUSG00000038071
AA Change: V103E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (25/25)

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,603,061	K1299*	probably null	Het
Adamts2	G	T	11: 50,776,664	W476C	probably damaging	Het
Ankrd13c	T	C	3: 158,005,817	F525L	probably damaging	Het
Arg1	T	C	10: 24,920,624	S102G	probably damaging	Het
Atp2a3	A	T	11: 72,973,024	D192V	possibly damaging	Het
Cabin1	T	C	10: 75,745,337	E385G	possibly damaging	Het
Cacna1h	A	T	17: 25,387,564	D1020E	probably damaging	Het
Calcb	C	T	7: 114,720,126	H48Y	probably benign	Het
Crtc1	A	G	8: 70,439,549	S4P	probably damaging	Het
Dcaf6	A	G	1: 165,420,223	I147T	possibly damaging	Het
Ears2	T	C	7: 122,044,291		probably benign	Het
Fas	T	C	19: 34,327,140	V267A	probably damaging	Het
Fus	T	C	7: 127,985,574	L84P	probably damaging	Het
Fyb	T	C	15: 6,580,459	V171A	probably benign	Het
Gdap2	T	A	3: 100,170,001	M1K	probably null	Het
Gprc5b	T	A	7: 118,983,995	Q217L	probably benign	Het
Lrrc69	A	G	4: 14,704,001	I273T	possibly damaging	Het
Map4k4	C	A	1: 40,004,864	Q556K	possibly damaging	Het
Olfr1449	A	G	19: 12,934,747	Y3C	probably benign	Het
Shisa9	A	G	16: 12,267,774	T416A	probably damaging	Het
Slc26a9	C	A	1: 131,754,011		probably benign	Het
Sostdc1	G	T	12: 36,317,021		probably benign	Het
St18	T	A	1: 6,817,738	F510L	probably damaging	Het
Zdhhc7	A	G	8: 120,083,367		probably benign	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
IGL02085:Npy6r	APN	18	44275931	missense	probably damaging	1.00
IGL02653:Npy6r	APN	18	44276627	makesense	probably null
IGL03305:Npy6r	APN	18	44275854	missense	probably damaging	1.00
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
R8425:Npy6r	UTSW	18	44276003	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGGAAGTGCTCACAAACCAGCC -3'
(R):5'- GCAGAGAACGATCTTCAGGTAGCAG -3'

Sequencing Primer
(F):5'- ACTGTGATCCTAATCATGGGC -3'
(R):5'- GGTTCAGTTTAGAAGGCCAAATCTC -3'

Posted On

2013-07-11