Incidental Mutation 'IGL02851:Npvf'
ID 361897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npvf
Ensembl Gene ENSMUSG00000029831
Gene Name neuropeptide VF precursor
Synonyms NPVF, Rfrp
Accession Numbers
Essential gene? Not available question?
Stock # IGL02851
Quality Score
Status
Chromosome 6
Chromosomal Location 50627652-50631419 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50629670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 107 (R107W)
Ref Sequence ENSEMBL: ENSMUSP00000031853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031853]
AlphaFold Q9ESQ8
Predicted Effect probably benign
Transcript: ENSMUST00000031853
AA Change: R107W

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000031853
Gene: ENSMUSG00000029831
AA Change: R107W

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 T C 12: 112,623,518 (GRCm39) E314G probably damaging Het
Amtn C A 5: 88,529,481 (GRCm39) Q106K probably benign Het
Birc6 T C 17: 74,916,184 (GRCm39) F1700S probably damaging Het
Brdt T C 5: 107,525,861 (GRCm39) S905P possibly damaging Het
Ccdc68 C T 18: 70,080,236 (GRCm39) Q194* probably null Het
Cdc27 A G 11: 104,417,807 (GRCm39) probably benign Het
Cdh13 A G 8: 119,401,897 (GRCm39) T100A probably benign Het
Cdsn A G 17: 35,866,791 (GRCm39) H440R possibly damaging Het
Cenpf C A 1: 189,390,227 (GRCm39) D1202Y probably damaging Het
Chat C A 14: 32,180,570 (GRCm39) V21L probably benign Het
Clca4c-ps T A 3: 144,585,493 (GRCm39) noncoding transcript Het
Cst9 A G 2: 148,677,203 (GRCm39) I25V probably benign Het
Dennd1b C A 1: 139,096,705 (GRCm39) probably benign Het
Dnah9 A G 11: 65,928,570 (GRCm39) probably benign Het
Dpp3 T G 19: 4,973,159 (GRCm39) Q145P probably benign Het
Elovl5 C T 9: 77,888,784 (GRCm39) T217M probably damaging Het
Etl4 T C 2: 20,812,840 (GRCm39) V906A possibly damaging Het
Gm10647 C T 9: 66,705,543 (GRCm39) probably benign Het
Grm5 A G 7: 87,723,918 (GRCm39) N736S probably damaging Het
Hectd1 A G 12: 51,814,423 (GRCm39) S1638P possibly damaging Het
Hsd3b2 T G 3: 98,623,740 (GRCm39) E46A possibly damaging Het
Igkv15-103 A G 6: 68,414,674 (GRCm39) T38A probably benign Het
Itpr2 C A 6: 146,287,477 (GRCm39) V450L probably damaging Het
Kbtbd12 T C 6: 88,595,311 (GRCm39) H173R probably benign Het
Man1a G A 10: 53,795,340 (GRCm39) R638W probably damaging Het
Mterf2 A T 10: 84,955,878 (GRCm39) S249T probably damaging Het
Muc6 T C 7: 141,234,627 (GRCm39) D700G probably damaging Het
Myh13 A G 11: 67,239,742 (GRCm39) H764R possibly damaging Het
Myh7b A G 2: 155,470,747 (GRCm39) D1065G probably damaging Het
Naip1 C A 13: 100,569,770 (GRCm39) W288L probably damaging Het
Naip6 C A 13: 100,437,168 (GRCm39) A452S probably benign Het
Nop2 A C 6: 125,121,048 (GRCm39) K610T possibly damaging Het
Nop2 G T 6: 125,121,033 (GRCm39) G605V probably benign Het
Or10h28 T A 17: 33,488,328 (GRCm39) I210K probably benign Het
Or2h2 T C 17: 37,397,048 (GRCm39) probably null Het
Os9 G A 10: 126,935,262 (GRCm39) probably benign Het
Parp4 T C 14: 56,886,326 (GRCm39) S1802P unknown Het
Piezo2 G A 18: 63,153,704 (GRCm39) S2547F probably benign Het
Plekha7 G T 7: 115,734,413 (GRCm39) A1024E probably damaging Het
R3hdm1 T C 1: 128,102,677 (GRCm39) probably benign Het
Robo4 T C 9: 37,324,678 (GRCm39) S1022P probably damaging Het
Sc5d T C 9: 42,166,690 (GRCm39) N283S probably benign Het
Scn10a C T 9: 119,500,674 (GRCm39) V202M probably damaging Het
Slco1a8 C T 6: 141,949,197 (GRCm39) G60R probably damaging Het
Spag16 T C 1: 70,304,067 (GRCm39) I366T possibly damaging Het
Sptbn4 G A 7: 27,126,258 (GRCm39) R222C possibly damaging Het
Tlr9 C T 9: 106,101,929 (GRCm39) Q407* probably null Het
Trappc12 G A 12: 28,741,405 (GRCm39) S768L probably damaging Het
Vmn2r44 A T 7: 8,386,050 (GRCm39) L63Q probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L probably benign Het
Other mutations in Npvf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Npvf APN 6 50,627,865 (GRCm39) missense probably damaging 0.99
IGL02850:Npvf APN 6 50,629,670 (GRCm39) missense probably benign 0.01
IGL03194:Npvf APN 6 50,627,878 (GRCm39) missense possibly damaging 0.80
R1878:Npvf UTSW 6 50,631,303 (GRCm39) missense probably benign
R8073:Npvf UTSW 6 50,631,349 (GRCm39) missense probably damaging 0.96
Posted On 2015-12-18