Incidental Mutation 'R2261:Npy2r'
ID 243779
Institutional Source Beutler Lab
Gene Symbol Npy2r
Ensembl Gene ENSMUSG00000028004
Gene Name neuropeptide Y receptor Y2
Synonyms NPY-Y2 receptor
MMRRC Submission 040261-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R2261 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 82445690-82455391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82448346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 30 (V30A)
Ref Sequence ENSEMBL: ENSMUSP00000138559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029633] [ENSMUST00000098997] [ENSMUST00000182181] [ENSMUST00000182831]
AlphaFold P97295
Predicted Effect possibly damaging
Transcript: ENSMUST00000029633
AA Change: V143A

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029633
Gene: ENSMUSG00000028004
AA Change: V143A

DomainStartEndE-ValueType
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: V143A

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096595
Gene: ENSMUSG00000028004
AA Change: V143A

DomainStartEndE-ValueType
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: V30A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138559
Gene: ENSMUSG00000028004
AA Change: V30A

DomainStartEndE-ValueType
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: V143A

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138282
Gene: ENSMUSG00000028004
AA Change: V143A

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1681 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 98% (60/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,242,288 (GRCm39) M1384L probably benign Het
Ahdc1 A G 4: 132,790,474 (GRCm39) T572A unknown Het
Arhgap31 T A 16: 38,429,639 (GRCm39) Q412L probably damaging Het
Arsi T C 18: 61,049,737 (GRCm39) Y207H probably damaging Het
Bco1 T C 8: 117,859,764 (GRCm39) L489S probably damaging Het
Cacna1g T A 11: 94,347,961 (GRCm39) H709L probably benign Het
Cacna1h T C 17: 25,652,139 (GRCm39) T2A possibly damaging Het
Casz1 G T 4: 149,013,556 (GRCm39) R40L probably damaging Het
Cdh23 A G 10: 60,152,907 (GRCm39) V2372A probably damaging Het
Cdk17 T A 10: 93,047,820 (GRCm39) S56T possibly damaging Het
Ces2h T A 8: 105,743,191 (GRCm39) M142K probably damaging Het
Cfap69 C A 5: 5,646,018 (GRCm39) V561F probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dnah11 T A 12: 117,843,760 (GRCm39) M4362L probably benign Het
Dnah11 T C 12: 117,930,374 (GRCm39) T3324A probably damaging Het
Dnajc3 A G 14: 119,198,232 (GRCm39) Q118R probably damaging Het
Dok4 A T 8: 95,593,140 (GRCm39) C182S probably damaging Het
Fam184a A G 10: 53,523,666 (GRCm39) probably null Het
Fanca A G 8: 124,016,098 (GRCm39) probably null Het
Flt3 G A 5: 147,284,873 (GRCm39) P748L probably benign Het
Gbp2b G A 3: 142,312,496 (GRCm39) S293N probably benign Het
Gbp8 T C 5: 105,163,999 (GRCm39) Q433R possibly damaging Het
Gm12874 G A 4: 122,487,533 (GRCm39) noncoding transcript Het
Golgb1 T A 16: 36,713,722 (GRCm39) F234L probably damaging Het
Gpr65 A T 12: 98,241,494 (GRCm39) N49I probably damaging Het
Grip1 G A 10: 119,821,489 (GRCm39) V385M probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Mast4 A G 13: 102,934,715 (GRCm39) probably benign Het
Mia3 A G 1: 183,115,647 (GRCm39) Y295H probably benign Het
Morc3 T A 16: 93,650,109 (GRCm39) probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Nell1 C T 7: 50,210,569 (GRCm39) T494I possibly damaging Het
Nsd2 A T 5: 34,042,871 (GRCm39) Q1045L probably damaging Het
Or51t4 T C 7: 102,598,464 (GRCm39) F254S probably damaging Het
Or5d40 T A 2: 88,015,965 (GRCm39) I248N probably damaging Het
Otub1 T A 19: 7,176,861 (GRCm39) probably null Het
Pcdh1 A T 18: 38,331,710 (GRCm39) L431H probably benign Het
Pdgfra T C 5: 75,346,184 (GRCm39) V778A probably benign Het
Plekhm2 C T 4: 141,370,043 (GRCm39) E29K probably damaging Het
Ralgapa2 T C 2: 146,184,603 (GRCm39) N1468S probably damaging Het
Rnf111 T C 9: 70,383,673 (GRCm39) S87G probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Saxo1 C T 4: 86,397,212 (GRCm39) D109N probably damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc20a1 A G 2: 129,048,394 (GRCm39) R260G possibly damaging Het
Slk T C 19: 47,625,791 (GRCm39) I1090T probably damaging Het
Spr-ps1 G T 6: 85,132,945 (GRCm39) noncoding transcript Het
Ssh1 T C 5: 114,080,764 (GRCm39) S867G possibly damaging Het
St18 T A 1: 6,915,796 (GRCm39) C814S probably damaging Het
Stmn2 T C 3: 8,606,955 (GRCm39) F25S probably damaging Het
Taar3 A G 10: 23,826,053 (GRCm39) I200V probably benign Het
Tmem184c A G 8: 78,323,672 (GRCm39) Y397H probably damaging Het
Tmem184c T C 8: 78,323,804 (GRCm39) T353A probably damaging Het
Tuba1c A G 15: 98,935,757 (GRCm39) H406R probably damaging Het
Ubr4 T C 4: 139,140,773 (GRCm39) S1231P probably damaging Het
Ubr5 A T 15: 37,988,528 (GRCm39) D2143E probably damaging Het
Vmn2r6 T C 3: 64,464,090 (GRCm39) N248S probably benign Het
Vmn2r63 G T 7: 42,578,031 (GRCm39) T169N probably benign Het
Zfp37 A T 4: 62,109,873 (GRCm39) L397Q probably damaging Het
Zmym2 G A 14: 57,165,719 (GRCm39) E681K probably damaging Het
Other mutations in Npy2r
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9323:Npy2r UTSW 3 82,447,728 (GRCm39) missense possibly damaging 0.93
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'- GGCCACAATCTCAAAGTCAGG -3'
(R):5'- CTCCCTGGTAATCCATGTGG -3'

Sequencing Primer
(F):5'- GAATGATCTCAATCAGGGAGTATTCC -3'
(R):5'- CCCTGGTAATCCATGTGGTAATC -3'
Posted On 2014-10-16