Incidental Mutation 'R8889:Npffr1'
ID 677577
Institutional Source Beutler Lab
Gene Symbol Npffr1
Ensembl Gene ENSMUSG00000020090
Gene Name neuropeptide FF receptor 1
Synonyms Gpr147, LOC237362, NPFF1, NPFF1R
MMRRC Submission 068693-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8889 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 61431271-61464344 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61449939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 71 (N71S)
Ref Sequence ENSEMBL: ENSMUSP00000020287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020287]
AlphaFold E9Q468
Predicted Effect possibly damaging
Transcript: ENSMUST00000020287
AA Change: N71S

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020287
Gene: ENSMUSG00000020090
AA Change: N71S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,815,606 (GRCm39) L285I probably damaging Het
Abcc2 T G 19: 43,795,571 (GRCm39) S442R possibly damaging Het
Adgrl3 A T 5: 81,874,516 (GRCm39) I938F probably damaging Het
Ank1 T C 8: 23,606,990 (GRCm39) L1297P probably damaging Het
Ap3b1 G A 13: 94,679,348 (GRCm39) V997M unknown Het
Ash2l T C 8: 26,313,247 (GRCm39) K413R probably benign Het
Cacnb1 A T 11: 97,901,192 (GRCm39) V220E probably damaging Het
Cacul1 A T 19: 60,568,960 (GRCm39) L66Q probably damaging Het
Camkv C T 9: 107,823,333 (GRCm39) R120* probably null Het
Ccny T G 18: 9,345,235 (GRCm39) S180R probably damaging Het
Cdh23 G T 10: 60,143,284 (GRCm39) H3012Q probably damaging Het
Clasp2 T A 9: 113,709,251 (GRCm39) L680Q probably damaging Het
Clip1 A T 5: 123,717,565 (GRCm39) S1241R probably benign Het
Cthrc1 T A 15: 38,940,445 (GRCm39) L16H probably damaging Het
Ctnna1 G A 18: 35,372,586 (GRCm39) V514I possibly damaging Het
Ddr1 A C 17: 35,993,556 (GRCm39) I852S probably benign Het
Echs1 A C 7: 139,688,031 (GRCm39) L258R probably damaging Het
Epha8 G T 4: 136,661,850 (GRCm39) H582N probably benign Het
Exph5 G T 9: 53,287,955 (GRCm39) G1679W probably damaging Het
Fhod3 G A 18: 25,189,452 (GRCm39) probably null Het
Gm10803 G A 2: 93,394,281 (GRCm39) D18N unknown Het
Gpr152 T A 19: 4,192,723 (GRCm39) I88N probably damaging Het
Gpr179 T C 11: 97,226,590 (GRCm39) D1855G possibly damaging Het
H2al2a T A 2: 18,001,599 (GRCm39) D29V probably damaging Het
Hnrnpf T G 6: 117,901,753 (GRCm39) S346A probably benign Het
Hsd11b2 C T 8: 106,249,263 (GRCm39) R213C probably damaging Het
Il17rd A G 14: 26,821,930 (GRCm39) D552G possibly damaging Het
Ipo9 T C 1: 135,314,544 (GRCm39) N904S possibly damaging Het
Klhl14 T G 18: 21,691,220 (GRCm39) T437P possibly damaging Het
Krt5 T C 15: 101,619,185 (GRCm39) M268V probably benign Het
Lhx4 T C 1: 155,581,013 (GRCm39) T171A possibly damaging Het
Ltn1 A T 16: 87,229,230 (GRCm39) probably benign Het
Macf1 A G 4: 123,249,036 (GRCm39) L7165P probably damaging Het
Micall2 T A 5: 139,703,254 (GRCm39) H194L probably damaging Het
Mmp16 T A 4: 18,051,820 (GRCm39) Y270N probably damaging Het
Nme6 T G 9: 109,668,706 (GRCm39) F41V probably damaging Het
Or1p4-ps1 T C 11: 74,207,949 (GRCm39) W33R probably damaging Het
Or4k41 A G 2: 111,279,967 (GRCm39) I161V probably benign Het
Pard3b T A 1: 62,677,026 (GRCm39) Y1186N probably damaging Het
Pate5 T A 9: 35,750,682 (GRCm39) T47S probably damaging Het
Pcca A G 14: 122,795,123 (GRCm39) probably benign Het
Plekha8 A G 6: 54,592,540 (GRCm39) probably benign Het
Ptpn14 T A 1: 189,554,872 (GRCm39) L144* probably null Het
Rad52 C T 6: 119,890,041 (GRCm39) R56C probably damaging Het
Rdx C T 9: 51,997,753 (GRCm39) R576C probably damaging Het
Rnf135 C T 11: 80,074,957 (GRCm39) T72I probably benign Het
Robo4 G T 9: 37,314,601 (GRCm39) R196L probably benign Het
Rsf1 G GACGTCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Rsf1 A T 7: 97,328,171 (GRCm39) I1058F Het
Ryr2 A T 13: 11,799,990 (GRCm39) V919E probably damaging Het
Slc39a6 A T 18: 24,729,386 (GRCm39) Y442* probably null Het
Slc4a11 T G 2: 130,529,140 (GRCm39) S437R probably damaging Het
Slc7a6 T A 8: 106,922,534 (GRCm39) V440E probably damaging Het
Sox2 A T 3: 34,705,129 (GRCm39) N189Y possibly damaging Het
Spata13 A T 14: 60,994,030 (GRCm39) M1161L probably benign Het
Spock3 T A 8: 63,404,986 (GRCm39) Y51* probably null Het
Sptbn1 A G 11: 30,067,800 (GRCm39) Y1805H probably benign Het
Tcerg1l C T 7: 137,999,260 (GRCm39) W41* probably null Het
Tdrd9 A G 12: 111,979,718 (GRCm39) Y401C probably benign Het
Tex47 A T 5: 7,355,115 (GRCm39) I99F probably damaging Het
Tlr9 G A 9: 106,099,834 (GRCm39) probably benign Het
Tmem209 T A 6: 30,497,942 (GRCm39) S276C possibly damaging Het
Tmprss11f A C 5: 86,687,618 (GRCm39) S97A possibly damaging Het
Tnfaip8 ACACACTC AC 18: 50,179,908 (GRCm39) probably benign Het
Ttc7 T A 17: 87,637,520 (GRCm39) M425K probably damaging Het
Ttn C T 2: 76,739,466 (GRCm39) G3737D unknown Het
Unc13b A T 4: 43,176,484 (GRCm39) R2437S unknown Het
Uqcrc1 C T 9: 108,766,186 (GRCm39) R58C probably damaging Het
Vmn1r128 A G 7: 21,083,740 (GRCm39) Y148C possibly damaging Het
Vmn1r193 T C 13: 22,403,839 (GRCm39) Y51C probably benign Het
Vmn2r112 A G 17: 22,837,612 (GRCm39) Y691C probably damaging Het
Vmn2r25 T A 6: 123,800,569 (GRCm39) D591V probably damaging Het
Vmn2r94 A G 17: 18,464,335 (GRCm39) S652P possibly damaging Het
Vps50 T A 6: 3,536,967 (GRCm39) C313S probably damaging Het
Vwa5b1 A G 4: 138,338,041 (GRCm39) V93A probably benign Het
Xrcc5 T G 1: 72,382,190 (GRCm39) D455E possibly damaging Het
Zdhhc6 T A 19: 55,290,987 (GRCm39) probably benign Het
Zfp964 G A 8: 70,116,405 (GRCm39) G335D probably damaging Het
Other mutations in Npffr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Npffr1 APN 10 61,449,987 (GRCm39) missense probably damaging 0.97
IGL02971:Npffr1 APN 10 61,449,918 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTGGTGAAAAGCCCGTTAACTC -3'
(R):5'- TCCGCGTCAGTCTTTAGCTG -3'

Sequencing Primer
(F):5'- GGTGAAAAGCCCGTTAACTCTTCTTC -3'
(R):5'- CGCGTCAGTCTTTAGCTGGAAAG -3'
Posted On 2021-08-02