Mutagenetix > Incidental Mutation

Incidental Mutation 'R0579:Npy4r'

56366

Institutional Source

Beutler Lab

Gene Symbol

Npy4r

Ensembl Gene

ENSMUSG00000048337

Gene Name

neuropeptide Y receptor Y4

Synonyms

NYYR-D, Ppyr1, Y4

MMRRC Submission

038769-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R0579 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

33867603-33874376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33868640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 216 (T216I)

Ref Sequence

ENSEMBL: ENSMUSP00000056576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052164]

AlphaFold

Q61041

Predicted Effect

probably benign
Transcript: ENSMUST00000052164
AA Change: T216I

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056576
Gene: ENSMUSG00000048337
AA Change: T216I

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	52	337	2.5e-6	PFAM
Pfam:7tm_1	58	322	1.6e-48	PFAM

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.7%

Validation Efficiency

89% (34/38)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased weight, increased drinking behavior, decreased food intake, aggression towards other mice, decreased white adipose tissue, and accelerated lobuloalveolar development during pregnancy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
Abcf3	G	A	16: 20,369,398 (GRCm39)	R260Q	probably benign	Het
Abcg3	A	G	5: 105,121,969 (GRCm39)	V136A	probably damaging	Het
Acr	C	G	15: 89,453,678 (GRCm39)	H72Q	probably damaging	Het
Ambra1	A	G	2: 91,654,810 (GRCm39)	N783S	possibly damaging	Het
Cd300ld2	A	G	11: 114,903,125 (GRCm39)	F240S	probably benign	Het
Cep83	A	G	10: 94,584,915 (GRCm39)	D340G	possibly damaging	Het
Crybg2	T	A	4: 133,800,049 (GRCm39)	I403N	probably damaging	Het
Dnah14	T	A	1: 181,572,312 (GRCm39)	M2881K	possibly damaging	Het
Erbb4	T	C	1: 68,081,621 (GRCm39)	M1138V	probably benign	Het
Evi5	A	G	5: 107,969,575 (GRCm39)	V112A	probably benign	Het
F2r	A	G	13: 95,754,857 (GRCm39)	V9A	probably benign	Het
Flot1	C	A	17: 36,141,900 (GRCm39)	S337R	probably benign	Het
Glt28d2	G	A	3: 85,779,440 (GRCm39)	T11I	probably damaging	Het
Gm19345	A	G	7: 19,588,901 (GRCm39)		probably benign	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Hmgcs2	A	T	3: 98,198,264 (GRCm39)	I56F	probably damaging	Het
Ifna9	T	A	4: 88,510,508 (GRCm39)	T39S	possibly damaging	Het
Il21	T	G	3: 37,281,923 (GRCm39)	K74Q	possibly damaging	Het
Itpripl1	G	T	2: 126,983,011 (GRCm39)	Y370*	probably null	Het
Kif24	G	A	4: 41,393,706 (GRCm39)	P1056S	probably damaging	Het
L2hgdh	A	T	12: 69,748,046 (GRCm39)		probably benign	Het
Lipo2	A	T	19: 33,724,298 (GRCm39)	L156Q	probably damaging	Het
Nlrp4c	T	A	7: 6,063,844 (GRCm39)	M84K	probably benign	Het
Or12d17	T	C	17: 37,777,238 (GRCm39)	V47A	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or6c1	A	T	10: 129,518,106 (GRCm39)	C167*	probably null	Het
Pafah1b2	T	C	9: 45,880,011 (GRCm39)	E222G	probably benign	Het
Pop1	T	A	15: 34,510,115 (GRCm39)	D406E	possibly damaging	Het
Proser1	A	G	3: 53,374,572 (GRCm39)	Y32C	probably damaging	Het
Ptprj	C	A	2: 90,266,913 (GRCm39)		probably null	Het
Slc1a3	T	A	15: 8,717,793 (GRCm39)	I100F	probably damaging	Het
Slc25a22	T	C	7: 141,011,272 (GRCm39)	D176G	probably damaging	Het
Stard7	T	C	2: 127,126,473 (GRCm39)	V99A	probably damaging	Het
Stk33	C	T	7: 108,924,904 (GRCm39)	V184I	probably damaging	Het
Timmdc1	A	G	16: 38,342,745 (GRCm39)	L51P	probably benign	Het
Tppp	T	C	13: 74,169,352 (GRCm39)	S31P	probably benign	Het
Upf2	A	T	2: 5,993,240 (GRCm39)	R599W	unknown	Het
Vav1	G	T	17: 57,586,271 (GRCm39)	W25L	probably benign	Het

Other mutations in Npy4r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Npy4r	APN	14	33,868,614 (GRCm39)	missense	possibly damaging	0.56
IGL01449:Npy4r	APN	14	33,868,322 (GRCm39)	missense	probably damaging	1.00
IGL01982:Npy4r	APN	14	33,869,282 (GRCm39)	missense	possibly damaging	0.73
IGL03126:Npy4r	APN	14	33,868,290 (GRCm39)	missense	probably benign	0.00
R0011:Npy4r	UTSW	14	33,868,680 (GRCm39)	missense	probably damaging	0.99
R0011:Npy4r	UTSW	14	33,868,680 (GRCm39)	missense	probably damaging	0.99
R2012:Npy4r	UTSW	14	33,869,154 (GRCm39)	missense	possibly damaging	0.58
R3735:Npy4r	UTSW	14	33,869,226 (GRCm39)	missense	probably benign	0.00
R4093:Npy4r	UTSW	14	33,869,098 (GRCm39)	missense	probably benign	0.21
R4650:Npy4r	UTSW	14	33,868,181 (GRCm39)	missense	possibly damaging	0.55
R4861:Npy4r	UTSW	14	33,868,840 (GRCm39)	nonsense	probably null
R4861:Npy4r	UTSW	14	33,868,840 (GRCm39)	nonsense	probably null
R4953:Npy4r	UTSW	14	33,868,437 (GRCm39)	missense	probably damaging	1.00
R4963:Npy4r	UTSW	14	33,868,973 (GRCm39)	missense	probably damaging	1.00
R5387:Npy4r	UTSW	14	33,868,940 (GRCm39)	missense	probably benign	0.21
R5973:Npy4r	UTSW	14	33,868,664 (GRCm39)	missense	probably benign	0.00
R6948:Npy4r	UTSW	14	33,868,731 (GRCm39)	missense	probably benign
R7251:Npy4r	UTSW	14	33,868,872 (GRCm39)	missense	probably damaging	1.00
R8081:Npy4r	UTSW	14	33,868,524 (GRCm39)	missense	probably damaging	0.99
R9051:Npy4r	UTSW	14	33,869,083 (GRCm39)	missense	possibly damaging	0.94
R9654:Npy4r	UTSW	14	33,869,081 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGAACACATGCAGGGGTAGCC -3'
(R):5'- TGTGACCAACCTACTCATTGCCAAC -3'

Sequencing Primer
(F):5'- GAACTGCAAAGGCAGTCAC -3'
(R):5'- CATCCAGTGTATGTCAGTGACAG -3'

Posted On

2013-07-11