Incidental Mutation 'R5577:Vmn2r43'
ID 457965
Institutional Source Beutler Lab
Gene Symbol Vmn2r43
Ensembl Gene ENSMUSG00000053720
Gene Name vomeronasal 2, receptor 43
Synonyms EC2-V2R
MMRRC Submission 043132-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R5577 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 8247347-8263598 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8247811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 784 (H784R)
Ref Sequence ENSEMBL: ENSMUSP00000069647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066317]
AlphaFold Q80Z08
Predicted Effect probably damaging
Transcript: ENSMUST00000066317
AA Change: H784R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069647
Gene: ENSMUSG00000053720
AA Change: H784R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:ANF_receptor 73 453 5.1e-35 PFAM
Pfam:NCD3G 496 549 7.7e-21 PFAM
Pfam:7tm_3 582 817 3e-56 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,835,826 (GRCm39) Y256D probably damaging Het
Acr C A 15: 89,458,441 (GRCm39) T374K probably benign Het
Akt2 G A 7: 27,335,731 (GRCm39) G335R probably damaging Het
Ccn3 T A 15: 54,615,897 (GRCm39) I354N possibly damaging Het
Cd177 A T 7: 24,444,562 (GRCm39) F673Y probably damaging Het
Clmn G T 12: 104,743,329 (GRCm39) S879R probably damaging Het
Csrp3 T C 7: 48,489,225 (GRCm39) H19R possibly damaging Het
Dmkn T C 7: 30,463,971 (GRCm39) S137P probably damaging Het
Eno1 C A 4: 150,331,067 (GRCm39) Y236* probably null Het
Enpp7 T A 11: 118,882,953 (GRCm39) N342K probably benign Het
Fancm T A 12: 65,177,185 (GRCm39) probably benign Het
Fshr A T 17: 89,293,351 (GRCm39) D442E probably benign Het
Gm3898 T A 9: 43,741,362 (GRCm39) noncoding transcript Het
Hdac7 A T 15: 97,709,336 (GRCm39) S43T probably benign Het
Herc1 T C 9: 66,389,263 (GRCm39) C3927R probably damaging Het
Klc4 G T 17: 46,946,355 (GRCm39) A490D probably damaging Het
Lcn9 T A 2: 25,713,663 (GRCm39) I63N probably damaging Het
Lgalsl G A 11: 20,779,316 (GRCm39) Q110* probably null Het
Lrp1b A T 2: 40,765,135 (GRCm39) M2783K possibly damaging Het
Lrrk2 A T 15: 91,649,948 (GRCm39) Y1695F probably damaging Het
Myo1e G A 9: 70,277,753 (GRCm39) E817K probably benign Het
Nav3 A T 10: 109,605,264 (GRCm39) D936E probably damaging Het
Necab3 T C 2: 154,387,076 (GRCm39) probably null Het
Nlrp1a T A 11: 70,990,400 (GRCm39) I951F probably damaging Het
Or5v1 T A 17: 37,810,493 (GRCm39) I317K probably benign Het
Or8b52 A G 9: 38,576,297 (GRCm39) I281T possibly damaging Het
Ppp2r5d T C 17: 46,998,901 (GRCm39) S54G probably benign Het
Prdx6 A G 1: 161,071,255 (GRCm39) S146P probably damaging Het
Sec24a A T 11: 51,625,448 (GRCm39) H258Q probably benign Het
Sec31a T C 5: 100,550,133 (GRCm39) T194A possibly damaging Het
Sqstm1 T C 11: 50,098,266 (GRCm39) I167V probably benign Het
Tas1r3 T C 4: 155,946,522 (GRCm39) E361G probably benign Het
Tlr1 T A 5: 65,083,428 (GRCm39) Q383L possibly damaging Het
Trappc8 G C 18: 20,969,836 (GRCm39) Y1051* probably null Het
Vmn2r2 T A 3: 64,024,416 (GRCm39) M722L probably benign Het
Zfp534 T G 4: 147,759,173 (GRCm39) K499Q probably damaging Het
Other mutations in Vmn2r43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01756:Vmn2r43 APN 7 8,258,583 (GRCm39) missense probably benign 0.00
IGL01777:Vmn2r43 APN 7 8,258,272 (GRCm39) missense probably damaging 1.00
IGL02096:Vmn2r43 APN 7 8,260,512 (GRCm39) splice site probably benign
IGL02429:Vmn2r43 APN 7 8,258,551 (GRCm39) missense probably benign 0.00
IGL03026:Vmn2r43 APN 7 8,258,096 (GRCm39) missense probably benign 0.05
IGL03155:Vmn2r43 APN 7 8,258,068 (GRCm39) missense possibly damaging 0.91
R1722:Vmn2r43 UTSW 7 8,258,067 (GRCm39) missense probably damaging 0.99
R1813:Vmn2r43 UTSW 7 8,258,055 (GRCm39) missense possibly damaging 0.81
R1896:Vmn2r43 UTSW 7 8,258,055 (GRCm39) missense possibly damaging 0.81
R1975:Vmn2r43 UTSW 7 8,258,550 (GRCm39) missense possibly damaging 0.91
R3951:Vmn2r43 UTSW 7 8,258,319 (GRCm39) missense probably benign 0.00
R4658:Vmn2r43 UTSW 7 8,258,070 (GRCm39) missense probably benign 0.01
R4879:Vmn2r43 UTSW 7 8,258,102 (GRCm39) missense probably benign 0.01
R4896:Vmn2r43 UTSW 7 8,247,848 (GRCm39) missense probably damaging 1.00
R5004:Vmn2r43 UTSW 7 8,247,848 (GRCm39) missense probably damaging 1.00
R5041:Vmn2r43 UTSW 7 8,247,806 (GRCm39) missense probably damaging 1.00
R6073:Vmn2r43 UTSW 7 8,258,184 (GRCm39) missense probably benign 0.13
R6133:Vmn2r43 UTSW 7 8,247,970 (GRCm39) missense probably damaging 1.00
R6867:Vmn2r43 UTSW 7 8,258,125 (GRCm39) missense probably benign 0.00
R7214:Vmn2r43 UTSW 7 8,256,379 (GRCm39) critical splice donor site probably null
R7339:Vmn2r43 UTSW 7 8,258,306 (GRCm39) nonsense probably null
R7424:Vmn2r43 UTSW 7 8,258,328 (GRCm39) missense probably damaging 0.99
R7534:Vmn2r43 UTSW 7 8,258,230 (GRCm39) nonsense probably null
R7542:Vmn2r43 UTSW 7 8,258,488 (GRCm39) missense probably benign 0.00
R7757:Vmn2r43 UTSW 7 8,258,253 (GRCm39) missense possibly damaging 0.77
R8131:Vmn2r43 UTSW 7 8,258,326 (GRCm39) missense probably benign 0.00
R8345:Vmn2r43 UTSW 7 8,256,601 (GRCm39) missense possibly damaging 0.69
R8418:Vmn2r43 UTSW 7 8,258,583 (GRCm39) nonsense probably null
R9691:Vmn2r43 UTSW 7 8,247,787 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-02-16