Mutagenetix > Incidental Mutation

Incidental Mutation 'R9323:Npy2r'

706303

Institutional Source

Beutler Lab

Gene Symbol

Npy2r

Ensembl Gene

ENSMUSG00000028004

Gene Name

neuropeptide Y receptor Y2

Synonyms

NPY-Y2 receptor

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R9323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82445690-82455391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82447728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 349 (I349N)

Ref Sequence

ENSEMBL: ENSMUSP00000096595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029633] [ENSMUST00000098997] [ENSMUST00000182181] [ENSMUST00000182831]

AlphaFold

P97295

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029633
AA Change: I349N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029633
Gene: ENSMUSG00000028004
AA Change: I349N

Domain	Start	End	E-Value	Type
low complexity region	35	44	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	65	344	1.7e-13	PFAM
Pfam:7tm_1	71	329	7.9e-52	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098997
AA Change: I349N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096595
Gene: ENSMUSG00000028004
AA Change: I349N

Domain	Start	End	E-Value	Type
Pfam:7tm_1	27	212	1.2e-26	PFAM
Pfam:7TM_GPCR_Srsx	30	227	8.5e-6	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182181
AA Change: I236N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138559
Gene: ENSMUSG00000028004
AA Change: I236N

Domain	Start	End	E-Value	Type
Pfam:7tm_1	27	212	1.2e-26	PFAM
Pfam:7TM_GPCR_Srsx	30	227	8.5e-6	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182831
AA Change: I349N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138282
Gene: ENSMUSG00000028004
AA Change: I349N

Domain	Start	End	E-Value	Type
low complexity region	31	40	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	61	340	7.1e-15	PFAM
Pfam:7tm_1	67	325	4.4e-54	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced food intake, body weight, and adiposity, elevated plasma pancreatic polypeptide levels, increased cancellous bone volume, and heightened sensitivity to pentobarbital-induced sedation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	G	A	16: 8,420,235 (GRCm39)	W178*	probably null	Het
Alx1	G	A	10: 102,858,124 (GRCm39)	R192*	probably null	Het
Apom	A	G	17: 35,350,633 (GRCm39)	C23R	probably damaging	Het
Asap2	A	G	12: 21,162,148 (GRCm39)	N35S	probably benign	Het
Atf6	A	T	1: 170,682,682 (GRCm39)	Y43*	probably null	Het
Atosa	C	T	9: 74,883,415 (GRCm39)		probably benign	Het
Bag4	T	C	8: 26,261,361 (GRCm39)	S127G	possibly damaging	Het
Bag4	G	T	8: 26,275,180 (GRCm39)	S7*	probably null	Het
Ccdc88b	A	G	19: 6,826,475 (GRCm39)	L1080P	probably damaging	Het
Cdcp3	T	A	7: 130,828,401 (GRCm39)	N285K	probably damaging	Het
Cdkl2	A	T	5: 92,168,107 (GRCm39)	D362E	probably benign	Het
Cep170	A	G	1: 176,586,068 (GRCm39)	S575P	probably benign	Het
Col4a2	C	T	8: 11,493,413 (GRCm39)	P1374L	possibly damaging	Het
Cpt2	T	C	4: 107,761,556 (GRCm39)	H617R	probably benign	Het
Cyp2d22	A	G	15: 82,258,207 (GRCm39)	S138P	probably damaging	Het
Cyp2j11	T	C	4: 96,195,619 (GRCm39)	D359G	probably benign	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,341 (GRCm39)	I121F	probably benign	Het
Dus1l	C	T	11: 120,684,724 (GRCm39)	R149H	probably damaging	Het
Fam90a1a	T	A	8: 22,453,640 (GRCm39)	Y332N	probably benign	Het
Fbxo47	A	T	11: 97,770,254 (GRCm39)	V46D	probably benign	Het
Grep1	A	G	17: 23,937,387 (GRCm39)	S54P	unknown	Het
Grpel1	T	A	5: 36,628,007 (GRCm39)	V96E	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Igkv4-80	C	T	6: 68,993,751 (GRCm39)	A47T	probably damaging	Het
Il1a	T	A	2: 129,149,826 (GRCm39)	I25F	probably benign	Het
Ireb2	T	A	9: 54,811,523 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,328,979 (GRCm39)	Y131C	probably damaging	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Lancl1	T	A	1: 67,077,794 (GRCm39)		probably benign	Het
Lpl	G	A	8: 69,340,196 (GRCm39)	V64M	possibly damaging	Het
Marchf10	T	C	11: 105,280,581 (GRCm39)	H568R	probably damaging	Het
Mib1	G	A	18: 10,775,685 (GRCm39)	V546M	probably damaging	Het
Mss51	A	T	14: 20,534,939 (GRCm39)	I277N	probably benign	Het
Mybpc1	A	G	10: 88,360,829 (GRCm39)		probably null	Het
Myct1	A	C	10: 5,554,195 (GRCm39)	I21L	probably benign	Het
Myo5c	C	A	9: 75,153,531 (GRCm39)	A139E	probably damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Or10g7	T	C	9: 39,905,360 (GRCm39)	S85P	possibly damaging	Het
Or14j2	A	C	17: 37,886,135 (GRCm39)	Y60D	probably damaging	Het
Or52n20	T	C	7: 104,320,220 (GRCm39)	F104L	possibly damaging	Het
Or5p6	C	T	7: 107,631,230 (GRCm39)	V107I	probably benign	Het
Or6c3b	A	T	10: 129,527,829 (GRCm39)	V27D	probably benign	Het
Or8d23	T	C	9: 38,841,818 (GRCm39)	V117A	probably benign	Het
Pde6b	A	T	5: 108,551,298 (GRCm39)	N194I	probably damaging	Het
Polg	TCTGGATGA	TCTGGATGACTGGATGA	7: 79,114,779 (GRCm39)		probably null	Het
Polg	GA	GACTGGAGCA	7: 79,114,786 (GRCm39)		probably null	Het
Ptpn9	T	C	9: 56,934,701 (GRCm39)	M155T	possibly damaging	Het
Ret	A	G	6: 118,158,975 (GRCm39)	Y146H	probably benign	Het
Sdf2l1	T	C	16: 16,949,498 (GRCm39)	H116R	probably damaging	Het
Shld2	A	G	14: 33,981,596 (GRCm39)	V514A	probably damaging	Het
Slc37a1	T	C	17: 31,552,643 (GRCm39)	I316T	probably damaging	Het
Slc4a11	A	C	2: 130,528,830 (GRCm39)	L473R	possibly damaging	Het
Smg7	A	G	1: 152,731,753 (GRCm39)	M344T	probably benign	Het
Smg9	T	C	7: 24,114,465 (GRCm39)	L268P	probably damaging	Het
Tiparp	C	T	3: 65,439,272 (GRCm39)	T196I	probably benign	Het
Trappc12	A	G	12: 28,742,491 (GRCm39)		probably null	Het
Trappc9	A	T	15: 72,565,431 (GRCm39)	N953K	probably benign	Het
Trpa1	A	G	1: 14,968,564 (GRCm39)	V428A	probably benign	Het
Utp20	T	C	10: 88,583,170 (GRCm39)	R2728G	probably damaging	Het
Zfp612	A	G	8: 110,815,372 (GRCm39)	E193G	probably benign	Het

Other mutations in Npy2r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02705:Npy2r	APN	3	82,448,056 (GRCm39)	missense	probably benign	0.07
IGL03013:Npy2r	APN	3	82,447,819 (GRCm39)	missense	probably damaging	1.00
R0616:Npy2r	UTSW	3	82,448,670 (GRCm39)	missense	possibly damaging	0.84
R1460:Npy2r	UTSW	3	82,448,251 (GRCm39)	missense	probably benign
R2013:Npy2r	UTSW	3	82,448,487 (GRCm39)	missense	probably damaging	1.00
R2107:Npy2r	UTSW	3	82,448,436 (GRCm39)	splice site	probably null
R2171:Npy2r	UTSW	3	82,447,708 (GRCm39)	missense	possibly damaging	0.65
R2259:Npy2r	UTSW	3	82,448,661 (GRCm39)	missense	possibly damaging	0.82
R2261:Npy2r	UTSW	3	82,448,346 (GRCm39)	missense	possibly damaging	0.90
R4604:Npy2r	UTSW	3	82,448,365 (GRCm39)	missense	probably damaging	1.00
R5935:Npy2r	UTSW	3	82,448,068 (GRCm39)	missense	possibly damaging	0.83
R7124:Npy2r	UTSW	3	82,448,490 (GRCm39)	missense	probably damaging	1.00
R7143:Npy2r	UTSW	3	82,448,250 (GRCm39)	missense	probably benign	0.02
R7709:Npy2r	UTSW	3	82,447,689 (GRCm39)	missense	probably benign
R7971:Npy2r	UTSW	3	82,448,175 (GRCm39)	missense	probably damaging	0.99
R7986:Npy2r	UTSW	3	82,448,803 (GRCm39)	critical splice acceptor site	probably null
R9331:Npy2r	UTSW	3	82,448,068 (GRCm39)	missense	probably damaging	1.00
R9381:Npy2r	UTSW	3	82,448,356 (GRCm39)	missense	probably damaging	1.00
X0018:Npy2r	UTSW	3	82,447,690 (GRCm39)	missense	probably benign	0.00
X0062:Npy2r	UTSW	3	82,447,900 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGGAGGTCTGCATGCAC -3'
(R):5'- TTTGCAGTCAGCTGGCTACC -3'

Sequencing Primer
(F):5'- TCTGCATGCACTGGCCAG -3'
(R):5'- AACTCGCTGTGGACATCGAC -3'

Posted On

2022-04-18