Incidental Mutation 'IGL02014:Vmn1r218'
ID183436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r218
Ensembl Gene ENSMUSG00000115020
Gene Namevomeronasal 1 receptor 218
SynonymsV1ri5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.237) question?
Stock #IGL02014
Quality Score
Status
Chromosome13
Chromosomal Location23133155-23146112 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 23136831 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 36 (T36I)
Ref Sequence ENSEMBL: ENSMUSP00000154303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074992] [ENSMUST00000226692] [ENSMUST00000227050] [ENSMUST00000227160] [ENSMUST00000227741]
Predicted Effect probably damaging
Transcript: ENSMUST00000074992
AA Change: T116I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074519
Gene: ENSMUSG00000115020
AA Change: T116I

DomainStartEndE-ValueType
Pfam:TAS2R 1 288 2e-7 PFAM
Pfam:V1R 33 297 5.4e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226692
AA Change: T116I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000227050
AA Change: T116I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000227160
AA Change: T36I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000227741
AA Change: T36I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228348
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd44 C T 1: 54,657,620 G654S possibly damaging Het
Arl14ep C T 2: 106,967,113 A180T probably benign Het
Btbd9 A C 17: 30,517,150 S330A probably damaging Het
Cep78 T C 19: 15,984,738 D48G probably damaging Het
Col4a4 C T 1: 82,523,960 probably benign Het
Ctdsp1 C T 1: 74,394,016 probably benign Het
Gapvd1 G A 2: 34,704,191 P949L probably damaging Het
Gas6 T C 8: 13,468,359 T492A possibly damaging Het
Igbp1b A T 6: 138,657,603 V281D probably benign Het
Mapk8ip3 G A 17: 24,903,280 probably benign Het
Met T C 6: 17,527,257 probably benign Het
Mmachc A G 4: 116,703,710 F196S probably damaging Het
Olfr618 T A 7: 103,597,730 I138N probably damaging Het
Pah A T 10: 87,581,927 T427S probably benign Het
Pcdh7 C A 5: 57,719,703 P200Q probably benign Het
Pde3a C A 6: 141,459,144 P365Q probably null Het
Pkm A G 9: 59,668,961 T143A possibly damaging Het
Plppr4 A G 3: 117,335,573 S82P probably damaging Het
Rnf165 A T 18: 77,468,359 V167E probably damaging Het
Ryr3 T C 2: 112,946,915 E299G possibly damaging Het
Sdk2 G A 11: 113,838,494 P1086S probably damaging Het
Spats1 G A 17: 45,461,240 R81C probably benign Het
Tbc1d2 T C 4: 46,649,778 N86S possibly damaging Het
Thegl T A 5: 77,047,155 F59I probably damaging Het
Vezt T A 10: 93,996,949 Y10F probably benign Het
Vmn1r174 C A 7: 23,754,158 P83H probably damaging Het
Zmym4 A T 4: 126,900,669 N889K possibly damaging Het
Other mutations in Vmn1r218
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02670:Vmn1r218 APN 13 23137004 missense probably benign 0.01
IGL03085:Vmn1r218 APN 13 23137311 missense possibly damaging 0.76
IGL03334:Vmn1r218 APN 13 23136618 missense probably damaging 1.00
R0049:Vmn1r218 UTSW 13 23137055 nonsense probably null
R0049:Vmn1r218 UTSW 13 23137055 nonsense probably null
R1387:Vmn1r218 UTSW 13 23137308 missense probably damaging 1.00
R1959:Vmn1r218 UTSW 13 23136513 missense probably damaging 0.96
R3713:Vmn1r218 UTSW 13 23136911 missense probably damaging 1.00
R3714:Vmn1r218 UTSW 13 23136911 missense probably damaging 1.00
R4037:Vmn1r218 UTSW 13 23136801 missense possibly damaging 0.91
R4038:Vmn1r218 UTSW 13 23136801 missense possibly damaging 0.91
R4039:Vmn1r218 UTSW 13 23136801 missense possibly damaging 0.91
R4432:Vmn1r218 UTSW 13 23137242 missense possibly damaging 0.87
R5255:Vmn1r218 UTSW 13 23136711 missense possibly damaging 0.92
R5521:Vmn1r218 UTSW 13 23136573 missense probably benign 0.01
R7384:Vmn1r218 UTSW 13 23136725 missense probably benign 0.00
R7565:Vmn1r218 UTSW 13 23136660 missense probably benign 0.05
Posted On2014-05-07