Incidental Mutation 'IGL02403:Vmn2r116'
ID291949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn2r116
Ensembl Gene ENSMUSG00000090966
Gene Namevomeronasal 2, receptor 116
SynonymsV2Rp5, EG619697
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02403
Quality Score
Status
Chromosome17
Chromosomal Location23384803-23401864 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 23387364 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 417 (D417Y)
Ref Sequence ENSEMBL: ENSMUSP00000128106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164856]
Predicted Effect probably damaging
Transcript: ENSMUST00000164856
AA Change: D417Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: D417Y

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:ANF_receptor 73 469 4.4e-30 PFAM
Pfam:NCD3G 511 564 1.2e-22 PFAM
low complexity region 589 594 N/A INTRINSIC
Pfam:7tm_3 595 832 8.7e-57 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Female mice homozygous for a knock-out allele stimulated with male pheromone (Gm6084) fail to exhibit an increase in lordosis behavior and successful intromission. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A G 4: 35,205,887 probably benign Het
4932438A13Rik T C 3: 37,030,664 S3922P probably benign Het
Abcc8 A G 7: 46,105,803 probably null Het
Alk C A 17: 71,901,393 G944V probably damaging Het
Alox15 T C 11: 70,345,901 D446G probably damaging Het
Apof A G 10: 128,269,484 probably null Het
Arhgap28 T G 17: 67,873,159 D81A possibly damaging Het
Bms1 T C 6: 118,405,224 E451G possibly damaging Het
Capn13 T A 17: 73,351,426 T216S possibly damaging Het
Ccdc28a A T 10: 18,214,183 probably benign Het
Cdip1 T C 16: 4,768,812 T150A probably damaging Het
Chrnb3 T A 8: 27,393,808 L191Q probably damaging Het
Chst2 G A 9: 95,405,232 Q354* probably null Het
Cldn11 T C 3: 31,150,196 V16A probably benign Het
Cyp4f18 A G 8: 71,998,228 M198T probably damaging Het
Dhx30 A G 9: 110,091,519 L280P probably damaging Het
Disc1 A G 8: 125,135,519 probably benign Het
Dnm1l T C 16: 16,336,976 I172V possibly damaging Het
Edem2 T C 2: 155,709,063 D328G possibly damaging Het
Fbxo10 G A 4: 45,062,517 T3M probably benign Het
Fdxacb1 T A 9: 50,771,563 S275R possibly damaging Het
Gm7275 C A 16: 48,073,628 noncoding transcript Het
Helz2 A T 2: 181,231,022 I2468N probably damaging Het
Ift46 C A 9: 44,786,879 P213Q probably damaging Het
Irf2 G T 8: 46,846,172 V334F probably damaging Het
Lrp4 T A 2: 91,508,582 V1786E probably benign Het
Mfsd5 A G 15: 102,280,538 Y115C probably benign Het
Muc5ac A G 7: 141,803,450 R1154G possibly damaging Het
Nek4 G T 14: 30,964,051 E314* probably null Het
Oas2 C T 5: 120,748,750 G117D possibly damaging Het
Olfr1057 A T 2: 86,374,523 D296E probably benign Het
Pikfyve C T 1: 65,244,504 H767Y probably damaging Het
Pkhd1 T C 1: 20,562,418 H591R probably benign Het
Pygl T A 12: 70,194,258 I672F probably benign Het
Rft1 G T 14: 30,660,321 probably benign Het
Ripor3 A C 2: 167,989,330 L517R probably damaging Het
Serpina3b A G 12: 104,130,462 M1V probably null Het
Sgce C T 6: 4,694,059 R263Q probably damaging Het
Stard6 A T 18: 70,496,112 probably null Het
Them4 T C 3: 94,323,671 F117L probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttc26 A G 6: 38,409,438 M365V possibly damaging Het
Other mutations in Vmn2r116
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Vmn2r116 APN 17 23385995 missense possibly damaging 0.94
IGL00985:Vmn2r116 APN 17 23401515 missense probably damaging 1.00
IGL00990:Vmn2r116 APN 17 23397727 missense probably damaging 1.00
IGL00990:Vmn2r116 APN 17 23387236 missense probably benign 0.12
IGL01383:Vmn2r116 APN 17 23401601 missense probably damaging 1.00
IGL01459:Vmn2r116 APN 17 23384929 missense probably damaging 1.00
IGL01725:Vmn2r116 APN 17 23386645 missense probably damaging 1.00
IGL02125:Vmn2r116 APN 17 23397627 splice site probably benign
IGL02170:Vmn2r116 APN 17 23384933 missense probably benign
IGL02209:Vmn2r116 APN 17 23388787 missense probably damaging 1.00
IGL02226:Vmn2r116 APN 17 23384834 missense probably null
IGL02272:Vmn2r116 APN 17 23385999 missense probably benign 0.06
IGL02272:Vmn2r116 APN 17 23386004 missense probably damaging 1.00
IGL02686:Vmn2r116 APN 17 23388793 missense probably damaging 0.99
IGL02750:Vmn2r116 APN 17 23397634 splice site probably benign
IGL02977:Vmn2r116 APN 17 23388774 missense possibly damaging 0.90
PIT4449001:Vmn2r116 UTSW 17 23388947 missense probably benign 0.41
R0015:Vmn2r116 UTSW 17 23401849 missense probably benign 0.03
R0219:Vmn2r116 UTSW 17 23386098 nonsense probably null
R0281:Vmn2r116 UTSW 17 23401413 missense possibly damaging 0.90
R0415:Vmn2r116 UTSW 17 23387279 missense possibly damaging 0.55
R0592:Vmn2r116 UTSW 17 23386915 missense probably damaging 0.99
R0610:Vmn2r116 UTSW 17 23387312 missense probably damaging 1.00
R0635:Vmn2r116 UTSW 17 23386887 missense possibly damaging 0.95
R0843:Vmn2r116 UTSW 17 23400960 missense probably benign 0.01
R1329:Vmn2r116 UTSW 17 23387188 missense possibly damaging 0.89
R1396:Vmn2r116 UTSW 17 23386141 missense probably benign
R1401:Vmn2r116 UTSW 17 23386596 splice site probably benign
R1574:Vmn2r116 UTSW 17 23387089 missense probably damaging 0.99
R1574:Vmn2r116 UTSW 17 23387089 missense probably damaging 0.99
R1766:Vmn2r116 UTSW 17 23401766 missense probably damaging 0.98
R2157:Vmn2r116 UTSW 17 23401469 missense probably damaging 1.00
R3622:Vmn2r116 UTSW 17 23386051 missense probably benign 0.11
R3690:Vmn2r116 UTSW 17 23384824 missense unknown
R4298:Vmn2r116 UTSW 17 23401827 missense possibly damaging 0.69
R4373:Vmn2r116 UTSW 17 23401421 missense probably benign 0.01
R4860:Vmn2r116 UTSW 17 23401803 missense probably benign
R4941:Vmn2r116 UTSW 17 23401142 missense probably damaging 1.00
R5119:Vmn2r116 UTSW 17 23387164 missense probably benign 0.01
R5503:Vmn2r116 UTSW 17 23386804 missense probably benign 0.07
R5510:Vmn2r116 UTSW 17 23386121 missense probably damaging 1.00
R5538:Vmn2r116 UTSW 17 23401067 missense probably benign 0.00
R5689:Vmn2r116 UTSW 17 23397719 missense probably benign 0.30
R5765:Vmn2r116 UTSW 17 23401404 missense probably damaging 0.99
R5794:Vmn2r116 UTSW 17 23385968 missense probably damaging 0.99
R5807:Vmn2r116 UTSW 17 23387307 missense probably damaging 1.00
R5837:Vmn2r116 UTSW 17 23387080 missense probably damaging 1.00
R6262:Vmn2r116 UTSW 17 23387377 missense probably benign 0.03
R6298:Vmn2r116 UTSW 17 23386762 missense probably damaging 1.00
R6651:Vmn2r116 UTSW 17 23388831 nonsense probably null
R6667:Vmn2r116 UTSW 17 23401092 missense probably damaging 1.00
R7393:Vmn2r116 UTSW 17 23386125 missense probably benign 0.14
R7571:Vmn2r116 UTSW 17 23384856 splice site probably null
R7940:Vmn2r116 UTSW 17 23386972 missense probably damaging 0.99
R8510:Vmn2r116 UTSW 17 23385931 nonsense probably null
S24628:Vmn2r116 UTSW 17 23387279 missense possibly damaging 0.55
Z1176:Vmn2r116 UTSW 17 23401428 missense probably damaging 1.00
Z1177:Vmn2r116 UTSW 17 23388892 missense probably benign
Posted On2015-04-16