Incidental Mutation 'IGL02282:Npbwr1'
ID 289884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npbwr1
Ensembl Gene ENSMUSG00000033774
Gene Name neuropeptides B/W receptor 1
Synonyms Gpr7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02282
Quality Score
Status
Chromosome 1
Chromosomal Location 5983926-5987617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5987184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 110 (M110K)
Ref Sequence ENSEMBL: ENSMUSP00000046233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044180]
AlphaFold P49681
Predicted Effect possibly damaging
Transcript: ENSMUST00000044180
AA Change: M110K

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046233
Gene: ENSMUSG00000033774
AA Change: M110K

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srw 44 327 1.3e-7 PFAM
Pfam:7TM_GPCR_Srsx 50 324 8.5e-10 PFAM
Pfam:7tm_1 56 309 1e-48 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null males develop adult-onset obesity, are hyperphagic, and have decreased energy expenditure and locomotor activity. Plasma levels of glucose, leptin and insulin are elevated in males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,983,351 (GRCm39) D1545G probably damaging Het
Baiap3 A C 17: 25,468,351 (GRCm39) D234E probably benign Het
Bltp2 C T 11: 78,175,054 (GRCm39) P1730S probably benign Het
Cand1 T A 10: 119,046,614 (GRCm39) T959S probably benign Het
Ctdspl2 A G 2: 121,807,959 (GRCm39) probably benign Het
Cyp2a4 A C 7: 26,008,472 (GRCm39) M205L probably benign Het
Dlx5 G A 6: 6,881,762 (GRCm39) A42V probably damaging Het
Dnah7a A G 1: 53,682,669 (GRCm39) I267T possibly damaging Het
Dnajb6 A G 5: 29,957,416 (GRCm39) D66G probably damaging Het
Fgf8 T C 19: 45,725,529 (GRCm39) H201R possibly damaging Het
Gpc1 A G 1: 92,785,689 (GRCm39) K460E probably damaging Het
Gzme A T 14: 56,355,826 (GRCm39) L162Q probably damaging Het
Ik G A 18: 36,878,697 (GRCm39) G17D probably damaging Het
Il4 G A 11: 53,509,001 (GRCm39) T59M probably damaging Het
Kcnh3 G T 15: 99,125,924 (GRCm39) probably null Het
Mill1 G T 7: 17,997,129 (GRCm39) probably null Het
Opalin A T 19: 41,054,943 (GRCm39) S84T probably benign Het
Or10w1 T A 19: 13,632,622 (GRCm39) D276E probably damaging Het
Or7g30 A G 9: 19,352,914 (GRCm39) Y235C probably benign Het
Or8b35 A T 9: 37,904,318 (GRCm39) I177F probably damaging Het
Pcdhb11 T C 18: 37,556,881 (GRCm39) L737P probably damaging Het
Phip G A 9: 82,795,743 (GRCm39) S626L probably benign Het
Ppl T C 16: 4,919,322 (GRCm39) D435G probably damaging Het
Prss37 A G 6: 40,492,317 (GRCm39) V178A possibly damaging Het
Ptpn7 A G 1: 135,062,572 (GRCm39) I104V probably damaging Het
Ptprn A G 1: 75,229,800 (GRCm39) Y700H probably damaging Het
Rab11fip5 T A 6: 85,314,534 (GRCm39) T555S probably damaging Het
Rfwd3 A T 8: 112,020,614 (GRCm39) probably benign Het
Robo1 G A 16: 72,539,026 (GRCm39) R41H probably damaging Het
Rps3 A G 7: 99,128,479 (GRCm39) probably null Het
Ruvbl2 G A 7: 45,074,589 (GRCm39) T183I probably benign Het
Sema4c A T 1: 36,589,284 (GRCm39) probably null Het
Shoc1 A C 4: 59,111,114 (GRCm39) Y53D unknown Het
Taar8b T A 10: 23,967,453 (GRCm39) K247I possibly damaging Het
Tacr3 A T 3: 134,566,834 (GRCm39) I236F probably benign Het
Ttc21b A G 2: 66,022,081 (GRCm39) I1168T probably damaging Het
Ttc9b A T 7: 27,355,336 (GRCm39) D202V probably damaging Het
Vmn2r26 T G 6: 124,038,584 (GRCm39) C720G probably damaging Het
Vmn2r37 A G 7: 9,209,761 (GRCm39) S584P probably benign Het
Wnk2 T A 13: 49,221,601 (GRCm39) D1208V probably damaging Het
Zfp988 T A 4: 147,416,125 (GRCm39) C186* probably null Het
Zp3 A G 5: 136,013,205 (GRCm39) N179S possibly damaging Het
Other mutations in Npbwr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0140:Npbwr1 UTSW 1 5,986,840 (GRCm39) missense probably damaging 1.00
R0585:Npbwr1 UTSW 1 5,986,677 (GRCm39) missense possibly damaging 0.72
R0827:Npbwr1 UTSW 1 5,987,008 (GRCm39) missense possibly damaging 0.85
R1472:Npbwr1 UTSW 1 5,986,900 (GRCm39) missense probably damaging 1.00
R1646:Npbwr1 UTSW 1 5,987,473 (GRCm39) missense probably benign 0.01
R2001:Npbwr1 UTSW 1 5,987,394 (GRCm39) missense possibly damaging 0.81
R2004:Npbwr1 UTSW 1 5,986,570 (GRCm39) missense probably damaging 1.00
R2005:Npbwr1 UTSW 1 5,986,570 (GRCm39) missense probably damaging 1.00
R2006:Npbwr1 UTSW 1 5,986,570 (GRCm39) missense probably damaging 1.00
R2259:Npbwr1 UTSW 1 5,986,877 (GRCm39) missense probably damaging 1.00
R4172:Npbwr1 UTSW 1 5,987,155 (GRCm39) missense probably damaging 1.00
R5614:Npbwr1 UTSW 1 5,987,030 (GRCm39) missense probably damaging 1.00
R6379:Npbwr1 UTSW 1 5,987,438 (GRCm39) missense probably benign 0.03
R7022:Npbwr1 UTSW 1 5,987,319 (GRCm39) missense probably damaging 1.00
R7462:Npbwr1 UTSW 1 5,987,151 (GRCm39) missense probably damaging 1.00
R7678:Npbwr1 UTSW 1 5,986,927 (GRCm39) missense probably benign 0.03
R8441:Npbwr1 UTSW 1 5,987,397 (GRCm39) missense possibly damaging 0.73
R8547:Npbwr1 UTSW 1 5,987,446 (GRCm39) missense possibly damaging 0.53
R8694:Npbwr1 UTSW 1 5,986,617 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16