Incidental Mutation 'IGL03384:Vmn1r78'
ID420793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r78
Ensembl Gene ENSMUSG00000061602
Gene Namevomeronasal 1 receptor 78
SynonymsV1rg7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL03384
Quality Score
Status
Chromosome7
Chromosomal Location12150257-12159959 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12153209 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 249 (Y249F)
Ref Sequence ENSEMBL: ENSMUSP00000154797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078039] [ENSMUST00000228244] [ENSMUST00000228664]
Predicted Effect possibly damaging
Transcript: ENSMUST00000078039
AA Change: Y249F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077186
Gene: ENSMUSG00000061602
AA Change: Y249F

DomainStartEndE-ValueType
Pfam:TAS2R 3 304 5.7e-8 PFAM
Pfam:V1R 12 301 1.5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209489
Predicted Effect possibly damaging
Transcript: ENSMUST00000228244
AA Change: Y249F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228664
AA Change: Y249F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A G 11: 72,195,847 I246T possibly damaging Het
Ablim2 C T 5: 35,874,872 R614C probably damaging Het
B230118H07Rik G T 2: 101,585,263 T115N probably benign Het
B4galt7 T C 13: 55,609,289 L265P probably damaging Het
Col4a4 C T 1: 82,484,438 C1072Y probably benign Het
Cxcr2 T C 1: 74,158,791 V148A probably damaging Het
Dnah14 G A 1: 181,745,949 V2942M probably benign Het
Fam124b T A 1: 80,199,956 H442L probably benign Het
Haus6 T C 4: 86,583,525 H703R probably benign Het
Ice1 T C 13: 70,603,249 T1573A probably benign Het
Ighv1-31 A G 12: 114,829,473 F48L probably benign Het
Iws1 C A 18: 32,093,150 A697D probably damaging Het
Jhy T A 9: 40,960,932 N94Y probably benign Het
Kank2 C T 9: 21,774,578 V667M possibly damaging Het
Mcam G A 9: 44,140,512 probably benign Het
Muc5ac A T 7: 141,812,403 I2099F possibly damaging Het
Myo7a T C 7: 98,093,593 I410V probably damaging Het
Nub1 A T 5: 24,697,427 probably benign Het
Nub1 A T 5: 24,697,426 probably null Het
Olfr980 T C 9: 40,006,470 T160A probably benign Het
Panx2 C T 15: 89,068,119 A271V possibly damaging Het
Papss1 T A 3: 131,579,352 H13Q probably damaging Het
Pkd1 A G 17: 24,565,897 T438A probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Ptchd4 T A 17: 42,502,590 C461S probably damaging Het
Rapgef2 A G 3: 79,083,546 F985S probably damaging Het
Rbm25 T C 12: 83,659,523 I214T probably benign Het
Sgpp1 T C 12: 75,716,106 probably benign Het
Slc22a20 A T 19: 5,980,374 C343* probably null Het
Slc22a22 T C 15: 57,254,216 I310V probably benign Het
Slc6a13 T C 6: 121,332,391 F287S probably damaging Het
Usp30 A G 5: 114,121,574 D447G probably damaging Het
Vmn2r106 T C 17: 20,268,143 T665A probably damaging Het
Vps37b A G 5: 124,007,607 probably null Het
Wfdc1 T A 8: 119,686,277 N198K probably benign Het
Other mutations in Vmn1r78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Vmn1r78 APN 7 12153238 missense probably benign 0.10
IGL02019:Vmn1r78 APN 7 12152707 missense probably damaging 0.99
IGL02143:Vmn1r78 APN 7 12152480 missense probably benign
IGL02154:Vmn1r78 APN 7 12152545 missense probably benign 0.22
IGL02290:Vmn1r78 APN 7 12153155 missense probably damaging 1.00
IGL03012:Vmn1r78 APN 7 12153364 missense probably benign 0.32
IGL03256:Vmn1r78 APN 7 12152798 missense probably damaging 1.00
IGL03373:Vmn1r78 APN 7 12153343 missense possibly damaging 0.86
R0016:Vmn1r78 UTSW 7 12153352 missense probably benign 0.02
R1445:Vmn1r78 UTSW 7 12152581 missense possibly damaging 0.64
R1748:Vmn1r78 UTSW 7 12153323 missense probably damaging 1.00
R2017:Vmn1r78 UTSW 7 12153343 missense possibly damaging 0.86
R2032:Vmn1r78 UTSW 7 12153283 missense probably benign 0.00
R2198:Vmn1r78 UTSW 7 12152560 missense probably benign 0.06
R4330:Vmn1r78 UTSW 7 12152459 splice site probably null
R4564:Vmn1r78 UTSW 7 12152558 missense probably damaging 1.00
R4769:Vmn1r78 UTSW 7 12152798 missense probably damaging 1.00
R4801:Vmn1r78 UTSW 7 12152964 nonsense probably null
R4802:Vmn1r78 UTSW 7 12152964 nonsense probably null
R4860:Vmn1r78 UTSW 7 12152756 missense probably damaging 1.00
R4860:Vmn1r78 UTSW 7 12152756 missense probably damaging 1.00
R5648:Vmn1r78 UTSW 7 12152766 missense possibly damaging 0.92
R6561:Vmn1r78 UTSW 7 12152899 missense probably damaging 1.00
R6869:Vmn1r78 UTSW 7 12152749 missense probably benign 0.01
R6945:Vmn1r78 UTSW 7 12152905 missense probably benign 0.01
R7793:Vmn1r78 UTSW 7 12153314 missense probably benign 0.01
R7954:Vmn1r78 UTSW 7 12153300 nonsense probably null
Z1088:Vmn1r78 UTSW 7 12152714 missense probably damaging 1.00
Posted On2016-08-02