Incidental Mutation 'IGL02971:Npffr1'
ID365798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npffr1
Ensembl Gene ENSMUSG00000020090
Gene Nameneuropeptide FF receptor 1
SynonymsLOC237362, NPFF1, Gpr147
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02971
Quality Score
Status
Chromosome10
Chromosomal Location61595492-61628565 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61614139 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 64 (V64A)
Ref Sequence ENSEMBL: ENSMUSP00000020287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020287]
Predicted Effect probably damaging
Transcript: ENSMUST00000020287
AA Change: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020287
Gene: ENSMUSG00000020090
AA Change: V64A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 54 346 3.3e-8 PFAM
Pfam:7tm_1 60 331 3.7e-56 PFAM
low complexity region 368 378 N/A INTRINSIC
low complexity region 380 398 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186677
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display abnormal pituitary function with abnormal levels of follicle stimulating and luteinizing hormone levels and increased litter sizes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 104,123,219 T130I probably benign Het
Ahi1 T C 10: 21,000,551 L787P possibly damaging Het
Atf3 A G 1: 191,177,443 S10P probably benign Het
Cdr2l A G 11: 115,390,900 N77S probably damaging Het
Cnp A G 11: 100,576,699 D156G probably benign Het
Cntn3 A T 6: 102,168,933 D982E probably damaging Het
Col22a1 A G 15: 72,006,738 L190S probably damaging Het
Csmd3 C T 15: 47,913,929 probably benign Het
Dnah5 A G 15: 28,384,461 D3117G probably damaging Het
Dock5 T C 14: 67,757,109 E1834G probably null Het
Eea1 A G 10: 96,041,527 T1368A probably benign Het
Fam83f T C 15: 80,672,149 V78A probably benign Het
Fcgbp G A 7: 28,101,473 V1315I probably damaging Het
Fsd2 A T 7: 81,548,923 Y364* probably null Het
Gm21976 G A 13: 98,302,549 G16R probably null Het
Guca2b A G 4: 119,657,688 S59P probably damaging Het
Hars2 A G 18: 36,786,178 E123G probably damaging Het
Hdac2 A T 10: 37,000,374 K462* probably null Het
Huwe1 T A X: 151,927,626 probably benign Het
Iqgap3 T A 3: 88,090,304 N262K probably benign Het
Kat6b A G 14: 21,669,758 S1502G probably damaging Het
Mapkapk3 A T 9: 107,257,080 D328E probably benign Het
Mgea5 A G 19: 45,762,243 F671S probably damaging Het
Naca C T 10: 128,041,568 probably benign Het
Olfr331 A G 11: 58,502,385 L57P probably damaging Het
Olfr918 T A 9: 38,673,268 M72L probably damaging Het
Pcca A G 14: 122,889,533 D718G probably damaging Het
Pde6a A C 18: 61,264,255 D670A probably damaging Het
Pramel7 T A 2: 87,490,073 E292V probably benign Het
Prmt9 A C 8: 77,565,069 M357L probably benign Het
Ptgfr A T 3: 151,835,326 S182T probably benign Het
Rtraf A T 14: 19,816,192 M152K possibly damaging Het
Satb1 T C 17: 51,742,689 D579G possibly damaging Het
Serpinb6a A G 13: 33,931,470 probably null Het
Slc5a9 T C 4: 111,890,300 I297V possibly damaging Het
Slf1 T A 13: 77,047,104 probably benign Het
St8sia2 C T 7: 73,966,811 V139M probably damaging Het
Tas2r114 T C 6: 131,689,280 M262V probably benign Het
Tmem147 A G 7: 30,729,422 probably benign Het
Tmem220 A G 11: 67,034,107 probably null Het
Uspl1 A G 5: 149,188,346 N35S possibly damaging Het
Vmn1r170 A T 7: 23,606,334 I54F possibly damaging Het
Vmn2r121 T G X: 124,127,894 I810L probably damaging Het
Wbp2nl A T 15: 82,305,744 T46S possibly damaging Het
Zfp955b T A 17: 33,300,966 M57K probably benign Het
Other mutations in Npffr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Npffr1 APN 10 61614208 missense probably damaging 0.97
R0893:Npffr1 UTSW 10 61614231 missense possibly damaging 0.88
R1528:Npffr1 UTSW 10 61614237 missense possibly damaging 0.66
R1568:Npffr1 UTSW 10 61626233 missense possibly damaging 0.92
R7567:Npffr1 UTSW 10 61626309 missense probably benign 0.31
R7857:Npffr1 UTSW 10 61613986 missense probably benign 0.01
R8111:Npffr1 UTSW 10 61623349 missense probably damaging 0.99
R8113:Npffr1 UTSW 10 61613971 missense possibly damaging 0.79
X0024:Npffr1 UTSW 10 61626062 missense possibly damaging 0.91
Posted On2015-12-18