Incidental Mutation 'A4554:Vmn2r120'
ID 104
Institutional Source Beutler Lab
Gene Symbol Vmn2r120
Ensembl Gene ENSMUSG00000090655
Gene Name vomeronasal 2, receptor 120
Synonyms EG224916
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # A4554 of strain gemini
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 57815783-57852314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57832715 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Phenylalanine to Leucine at position 155 (F155L)
Ref Sequence ENSEMBL: ENSMUSP00000129296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165781]
AlphaFold A0A3Q4EG79
Predicted Effect probably benign
Transcript: ENSMUST00000165781
AA Change: F155L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000129296
Gene: ENSMUSG00000090655
AA Change: F155L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:ANF_receptor 80 474 5.9e-42 PFAM
Pfam:NCD3G 517 570 7.5e-22 PFAM
Pfam:7tm_3 598 836 1.3e-54 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 63.0%
Validation Efficiency 84% (92/109)
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap1 T C 15: 63,996,560 (GRCm39) probably benign Het
Bpifb5 A T 2: 154,069,100 (GRCm39) Y139F possibly damaging Homo
Chd2 A C 7: 73,130,716 (GRCm39) V782G probably benign Homo
Chst4 G T 8: 110,756,520 (GRCm39) Q448K probably benign Homo
Dido1 T C 2: 180,317,164 (GRCm39) K8E probably damaging Homo
Evpl A G 11: 116,111,660 (GRCm39) L2010P probably damaging Homo
Fgl2 A G 5: 21,577,776 (GRCm39) E21G probably benign Homo
Greb1l A T 18: 10,532,862 (GRCm39) M919L possibly damaging Homo
Kel T A 6: 41,674,353 (GRCm39) D359V possibly damaging Homo
Lmtk2 A G 5: 144,103,135 (GRCm39) D298G possibly damaging Homo
Masp1 A T 16: 23,273,690 (GRCm39) probably null Homo
Mrgprb8 A T 7: 48,039,156 (GRCm39) I276F probably damaging Homo
Nde1 T C 16: 14,006,274 (GRCm39) probably benign Homo
Rbck1 G T 2: 152,161,092 (GRCm39) N385K probably damaging Homo
Senp6 G T 9: 80,055,740 (GRCm39) probably benign Het
Tm4sf4 T A 3: 57,345,188 (GRCm39) probably null Homo
Ubn2 A T 6: 38,461,045 (GRCm39) H488L probably damaging Homo
Vmn2r65 T A 7: 84,595,791 (GRCm39) T298S probably damaging Homo
Other mutations in Vmn2r120
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Vmn2r120 APN 17 57,832,732 (GRCm39) missense possibly damaging 0.86
IGL01346:Vmn2r120 APN 17 57,852,232 (GRCm39) missense probably benign 0.11
IGL01996:Vmn2r120 APN 17 57,832,222 (GRCm39) missense possibly damaging 0.92
IGL02503:Vmn2r120 APN 17 57,816,385 (GRCm39) missense probably benign 0.40
IGL02582:Vmn2r120 APN 17 57,831,724 (GRCm39) missense probably damaging 0.99
IGL02747:Vmn2r120 APN 17 57,831,719 (GRCm39) missense probably benign 0.19
IGL02896:Vmn2r120 APN 17 57,816,008 (GRCm39) missense probably damaging 1.00
IGL03139:Vmn2r120 APN 17 57,831,742 (GRCm39) missense probably benign 0.39
IGL03342:Vmn2r120 APN 17 57,816,372 (GRCm39) missense probably benign 0.03
R0207:Vmn2r120 UTSW 17 57,832,052 (GRCm39) missense probably benign 0.17
R0472:Vmn2r120 UTSW 17 57,831,518 (GRCm39) missense probably benign 0.03
R0517:Vmn2r120 UTSW 17 57,815,949 (GRCm39) missense probably damaging 1.00
R1109:Vmn2r120 UTSW 17 57,832,829 (GRCm39) missense probably benign 0.09
R1316:Vmn2r120 UTSW 17 57,832,939 (GRCm39) missense probably benign 0.28
R1543:Vmn2r120 UTSW 17 57,829,374 (GRCm39) missense probably benign 0.09
R1795:Vmn2r120 UTSW 17 57,832,038 (GRCm39) missense probably benign 0.35
R1850:Vmn2r120 UTSW 17 57,832,826 (GRCm39) missense probably benign 0.19
R1920:Vmn2r120 UTSW 17 57,831,839 (GRCm39) missense probably benign 0.01
R1921:Vmn2r120 UTSW 17 57,831,839 (GRCm39) missense probably benign 0.01
R1922:Vmn2r120 UTSW 17 57,831,839 (GRCm39) missense probably benign 0.01
R2063:Vmn2r120 UTSW 17 57,831,553 (GRCm39) missense possibly damaging 0.88
R2064:Vmn2r120 UTSW 17 57,831,553 (GRCm39) missense possibly damaging 0.88
R2065:Vmn2r120 UTSW 17 57,831,553 (GRCm39) missense possibly damaging 0.88
R2067:Vmn2r120 UTSW 17 57,831,553 (GRCm39) missense possibly damaging 0.88
R2286:Vmn2r120 UTSW 17 57,815,958 (GRCm39) missense probably damaging 1.00
R2291:Vmn2r120 UTSW 17 57,816,479 (GRCm39) missense probably damaging 1.00
R3416:Vmn2r120 UTSW 17 57,816,241 (GRCm39) missense possibly damaging 0.89
R3874:Vmn2r120 UTSW 17 57,831,954 (GRCm39) missense probably benign 0.40
R4023:Vmn2r120 UTSW 17 57,843,718 (GRCm39) missense possibly damaging 0.92
R4024:Vmn2r120 UTSW 17 57,843,718 (GRCm39) missense possibly damaging 0.92
R4348:Vmn2r120 UTSW 17 57,829,466 (GRCm39) missense possibly damaging 0.47
R4409:Vmn2r120 UTSW 17 57,816,477 (GRCm39) missense probably damaging 1.00
R4610:Vmn2r120 UTSW 17 57,816,120 (GRCm39) missense probably damaging 1.00
R4771:Vmn2r120 UTSW 17 57,831,887 (GRCm39) missense probably damaging 1.00
R4786:Vmn2r120 UTSW 17 57,829,048 (GRCm39) missense probably benign 0.14
R4927:Vmn2r120 UTSW 17 57,816,125 (GRCm39) missense probably damaging 1.00
R5285:Vmn2r120 UTSW 17 57,843,703 (GRCm39) missense probably damaging 1.00
R5566:Vmn2r120 UTSW 17 57,852,290 (GRCm39) missense possibly damaging 0.95
R5578:Vmn2r120 UTSW 17 57,829,514 (GRCm39) missense probably benign 0.01
R5643:Vmn2r120 UTSW 17 57,831,977 (GRCm39) missense probably benign 0.01
R5644:Vmn2r120 UTSW 17 57,831,977 (GRCm39) missense probably benign 0.01
R5781:Vmn2r120 UTSW 17 57,831,938 (GRCm39) missense probably benign 0.00
R6084:Vmn2r120 UTSW 17 57,832,721 (GRCm39) missense probably benign 0.15
R6120:Vmn2r120 UTSW 17 57,832,973 (GRCm39) missense probably benign 0.02
R6160:Vmn2r120 UTSW 17 57,816,418 (GRCm39) missense probably benign 0.03
R6248:Vmn2r120 UTSW 17 57,852,287 (GRCm39) missense probably benign 0.03
R6256:Vmn2r120 UTSW 17 57,831,700 (GRCm39) nonsense probably null
R6730:Vmn2r120 UTSW 17 57,832,012 (GRCm39) missense probably benign 0.03
R6821:Vmn2r120 UTSW 17 57,843,659 (GRCm39) missense probably benign 0.00
R6868:Vmn2r120 UTSW 17 57,852,218 (GRCm39) missense probably benign 0.00
R6880:Vmn2r120 UTSW 17 57,816,187 (GRCm39) missense probably damaging 1.00
R6986:Vmn2r120 UTSW 17 57,816,340 (GRCm39) missense probably damaging 1.00
R7276:Vmn2r120 UTSW 17 57,831,881 (GRCm39) missense probably benign 0.11
R7373:Vmn2r120 UTSW 17 57,816,406 (GRCm39) missense probably benign 0.35
R7653:Vmn2r120 UTSW 17 57,816,258 (GRCm39) missense possibly damaging 0.93
R7667:Vmn2r120 UTSW 17 57,843,657 (GRCm39) missense probably benign 0.04
R7775:Vmn2r120 UTSW 17 57,832,942 (GRCm39) missense probably damaging 1.00
R7778:Vmn2r120 UTSW 17 57,832,942 (GRCm39) missense probably damaging 1.00
R7797:Vmn2r120 UTSW 17 57,815,874 (GRCm39) missense probably damaging 1.00
R7824:Vmn2r120 UTSW 17 57,832,942 (GRCm39) missense probably damaging 1.00
R7902:Vmn2r120 UTSW 17 57,816,244 (GRCm39) missense possibly damaging 0.87
R7922:Vmn2r120 UTSW 17 57,831,683 (GRCm39) missense probably damaging 0.99
R8508:Vmn2r120 UTSW 17 57,832,843 (GRCm39) missense probably benign 0.03
R8847:Vmn2r120 UTSW 17 57,816,217 (GRCm39) missense probably benign 0.01
R8882:Vmn2r120 UTSW 17 57,852,229 (GRCm39) missense probably benign 0.01
R9134:Vmn2r120 UTSW 17 57,832,093 (GRCm39) missense probably damaging 1.00
R9161:Vmn2r120 UTSW 17 57,831,864 (GRCm39) missense
R9336:Vmn2r120 UTSW 17 57,832,201 (GRCm39) missense possibly damaging 0.91
RF005:Vmn2r120 UTSW 17 57,828,991 (GRCm39) missense possibly damaging 0.65
Z1177:Vmn2r120 UTSW 17 57,816,245 (GRCm39) missense probably benign 0.00
Z1188:Vmn2r120 UTSW 17 57,829,436 (GRCm39) missense probably damaging 1.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 463 of the Evpl transcript in exon 3 of 7 total exons. The mutated nucleotide causes a phenylalanine to leucine substitution at amino acid 176 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Vmn2r120 gene encodes a encodes a 2571 amino acid protein that belongs to the G-protein coupled receptor (GPCR) 3 family, and is predicted to be a pheromone receptor (SMART). 
 
The F176L change is located in the ligand-binding domain, and is predicted to be probably damaging by the PolyPhen program.
Posted On 2010-03-16