Incidental Mutation 'IGL02971:Npffr1'
ID 365798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npffr1
Ensembl Gene ENSMUSG00000020090
Gene Name neuropeptide FF receptor 1
Synonyms Gpr147, LOC237362, NPFF1, NPFF1R
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02971
Quality Score
Chromosome 10
Chromosomal Location 61431271-61464344 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61449918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 64 (V64A)
Ref Sequence ENSEMBL: ENSMUSP00000020287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020287]
AlphaFold E9Q468
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

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: 103,953,564 (GRCm39) T130I probably benign Het
Ahi1 T C 10: 20,876,450 (GRCm39) L787P possibly damaging Het
Atf3 A G 1: 190,909,640 (GRCm39) S10P probably benign Het
Cdr2l A G 11: 115,281,726 (GRCm39) N77S probably damaging Het
Cnp A G 11: 100,467,525 (GRCm39) D156G probably benign Het
Cntn3 A T 6: 102,145,894 (GRCm39) D982E probably damaging Het
Col22a1 A G 15: 71,878,587 (GRCm39) L190S probably damaging Het
Csmd3 C T 15: 47,777,325 (GRCm39) probably benign Het
Dnah5 A G 15: 28,384,607 (GRCm39) D3117G probably damaging Het
Dock5 T C 14: 67,994,558 (GRCm39) E1834G probably null Het
Eea1 A G 10: 95,877,389 (GRCm39) T1368A probably benign Het
Fam83f T C 15: 80,556,350 (GRCm39) V78A probably benign Het
Fcgbp G A 7: 27,800,898 (GRCm39) V1315I probably damaging Het
Fsd2 A T 7: 81,198,671 (GRCm39) Y364* probably null Het
Gm21976 G A 13: 98,439,057 (GRCm39) G16R probably null Het
Guca2b A G 4: 119,514,885 (GRCm39) S59P probably damaging Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hdac2 A T 10: 36,876,370 (GRCm39) K462* probably null Het
Huwe1 T A X: 150,710,622 (GRCm39) probably benign Het
Iqgap3 T A 3: 87,997,611 (GRCm39) N262K probably benign Het
Kat6b A G 14: 21,719,826 (GRCm39) S1502G probably damaging Het
Mapkapk3 A T 9: 107,134,279 (GRCm39) D328E probably benign Het
Naca C T 10: 127,877,437 (GRCm39) probably benign Het
Oga A G 19: 45,750,682 (GRCm39) F671S probably damaging Het
Or2t49 A G 11: 58,393,211 (GRCm39) L57P probably damaging Het
Or8b3b T A 9: 38,584,564 (GRCm39) M72L probably damaging Het
Pcca A G 14: 123,126,945 (GRCm39) D718G probably damaging Het
Pde6a A C 18: 61,397,326 (GRCm39) D670A probably damaging Het
Pramel7 T A 2: 87,320,417 (GRCm39) E292V probably benign Het
Prmt9 A C 8: 78,291,698 (GRCm39) M357L probably benign Het
Ptgfr A T 3: 151,540,963 (GRCm39) S182T probably benign Het
Rtraf A T 14: 19,866,260 (GRCm39) M152K possibly damaging Het
Satb1 T C 17: 52,049,717 (GRCm39) D579G possibly damaging Het
Serpinb6a A G 13: 34,115,453 (GRCm39) probably null Het
Slc5a9 T C 4: 111,747,497 (GRCm39) I297V possibly damaging Het
Slf1 T A 13: 77,195,223 (GRCm39) probably benign Het
St8sia2 C T 7: 73,616,559 (GRCm39) V139M probably damaging Het
Tas2r114 T C 6: 131,666,243 (GRCm39) M262V probably benign Het
Tmem147 A G 7: 30,428,847 (GRCm39) probably benign Het
Tmem220 A G 11: 66,924,933 (GRCm39) probably null Het
Uspl1 A G 5: 149,125,156 (GRCm39) N35S possibly damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Vmn2r121 T G X: 123,037,591 (GRCm39) I810L probably damaging Het
Wbp2nl A T 15: 82,189,945 (GRCm39) T46S possibly damaging Het
Zfp955b T A 17: 33,519,940 (GRCm39) M57K probably benign Het
Other mutations in Npffr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Npffr1 APN 10 61,449,987 (GRCm39) missense probably damaging 0.97
R0893:Npffr1 UTSW 10 61,450,010 (GRCm39) missense possibly damaging 0.88
R1528:Npffr1 UTSW 10 61,450,016 (GRCm39) missense possibly damaging 0.66
R1568:Npffr1 UTSW 10 61,462,012 (GRCm39) missense possibly damaging 0.92
R7567:Npffr1 UTSW 10 61,462,088 (GRCm39) missense probably benign 0.31
R7857:Npffr1 UTSW 10 61,449,765 (GRCm39) missense probably benign 0.01
R8111:Npffr1 UTSW 10 61,459,128 (GRCm39) missense probably damaging 0.99
R8113:Npffr1 UTSW 10 61,449,750 (GRCm39) missense possibly damaging 0.79
R8872:Npffr1 UTSW 10 61,461,794 (GRCm39) missense probably benign 0.00
R8889:Npffr1 UTSW 10 61,449,939 (GRCm39) missense possibly damaging 0.66
R8892:Npffr1 UTSW 10 61,449,939 (GRCm39) missense possibly damaging 0.66
X0024:Npffr1 UTSW 10 61,461,841 (GRCm39) missense possibly damaging 0.91
Posted On 2015-12-18