Incidental Mutation 'R6979:Vmn1r51'
ID 542612
Institutional Source Beutler Lab
Gene Symbol Vmn1r51
Ensembl Gene ENSMUSG00000062818
Gene Name vomeronasal 1 receptor 51
Synonyms VN12, V1ra1, V1r1
MMRRC Submission 045087-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6979 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 90099625-90107627 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90106186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 34 (H34L)
Ref Sequence ENSEMBL: ENSMUSP00000154676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072859] [ENSMUST00000174204] [ENSMUST00000226542] [ENSMUST00000226977] [ENSMUST00000227109] [ENSMUST00000227766] [ENSMUST00000227876] [ENSMUST00000227911] [ENSMUST00000228880]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000072859
AA Change: H34L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072637
Gene: ENSMUSG00000062818
AA Change: H34L

DomainStartEndE-ValueType
transmembrane domain 41 63 N/A INTRINSIC
Pfam:V1R 64 328 1.5e-138 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000174204
AA Change: H34L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133870
Gene: ENSMUSG00000062818
AA Change: H34L

DomainStartEndE-ValueType
transmembrane domain 41 63 N/A INTRINSIC
Pfam:V1R 64 328 1.5e-138 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000226542
AA Change: H34L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226977
AA Change: H34L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227109
AA Change: H34L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227766
AA Change: H34L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227876
AA Change: H34L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227911
AA Change: H34L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228880
AA Change: H34L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (50/50)
MGI Phenotype PHENOTYPE: Homozygotes and heterozygotes for a null mutation exhibit axons that fail to converge on multiple discrete glomeruli, but rather, appear widely distributed throughout the glomerular layer of the accessory olfactory bulb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,947,424 (GRCm39) T374M probably benign Het
Aspg A G 12: 112,087,378 (GRCm39) D278G possibly damaging Het
Aspm C A 1: 139,408,223 (GRCm39) A2370E probably damaging Het
Ccnt2 T C 1: 127,702,873 (GRCm39) M65T probably damaging Het
Cd163 A G 6: 124,294,945 (GRCm39) T670A probably benign Het
Cpne3 G A 4: 19,533,098 (GRCm39) T279I probably benign Het
Ctdspl G A 9: 118,869,598 (GRCm39) V227M probably damaging Het
Ctnnd2 A G 15: 30,619,376 (GRCm39) E99G probably damaging Het
Dapk1 T C 13: 60,896,095 (GRCm39) S728P probably damaging Het
Dmxl2 A G 9: 54,358,163 (GRCm39) I512T possibly damaging Het
Dop1a A T 9: 86,403,695 (GRCm39) T1630S possibly damaging Het
Dqx1 A G 6: 83,037,992 (GRCm39) D460G probably damaging Het
Foxg1 T C 12: 49,431,567 (GRCm39) probably benign Het
H2-Q2 T A 17: 35,564,623 (GRCm39) probably null Het
Hes6 T C 1: 91,340,810 (GRCm39) E17G possibly damaging Het
Ighv1-42 T C 12: 114,900,848 (GRCm39) Y79C possibly damaging Het
Itfg2 T C 6: 128,388,554 (GRCm39) D311G probably damaging Het
Itgb5 T A 16: 33,740,356 (GRCm39) C489S probably damaging Het
Map4k5 A T 12: 69,869,622 (GRCm39) C488S probably damaging Het
Mark1 C T 1: 184,644,825 (GRCm39) G377D possibly damaging Het
Mat2a A G 6: 72,412,096 (GRCm39) V318A probably damaging Het
Mpp7 T G 18: 7,355,049 (GRCm39) N459T possibly damaging Het
Mrc2 C A 11: 105,239,461 (GRCm39) N1348K probably damaging Het
Mroh5 T C 15: 73,664,978 (GRCm39) K264R probably benign Het
Mtor A G 4: 148,608,930 (GRCm39) M1529V possibly damaging Het
Mtrr C T 13: 68,718,122 (GRCm39) probably null Het
Nwd1 C T 8: 73,394,288 (GRCm39) P517L probably damaging Het
Or4a27 T A 2: 88,559,528 (GRCm39) R138S probably benign Het
Or8h10 A G 2: 86,808,577 (GRCm39) S188P probably damaging Het
Polr1c A G 17: 46,557,095 (GRCm39) F63L probably damaging Het
Polrmt C T 10: 79,582,400 (GRCm39) probably null Het
Pomt2 T C 12: 87,177,125 (GRCm39) I287M probably damaging Het
Prkar2a T A 9: 108,610,342 (GRCm39) N190K possibly damaging Het
Prl3d3 T A 13: 27,341,545 (GRCm39) Y59N possibly damaging Het
Prl5a1 T A 13: 28,335,189 (GRCm39) F199L probably benign Het
Prpf38b A G 3: 108,818,640 (GRCm39) V40A probably benign Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Ptgs1 A G 2: 36,141,311 (GRCm39) D586G probably benign Het
Slx4 T C 16: 3,802,879 (GRCm39) K1312E probably damaging Het
Smok3c A G 5: 138,062,987 (GRCm39) D158G probably benign Het
Spen A T 4: 141,205,374 (GRCm39) D1084E unknown Het
Tcp11l1 C T 2: 104,536,784 (GRCm39) G27D probably benign Het
Tep1 A G 14: 51,076,094 (GRCm39) S1679P possibly damaging Het
Tmem259 C T 10: 79,814,391 (GRCm39) V322I possibly damaging Het
Tmpo A T 10: 90,988,359 (GRCm39) probably null Het
Ttn C A 2: 76,555,137 (GRCm39) A30623S probably damaging Het
Ube2l3 G A 16: 16,977,841 (GRCm39) probably benign Het
Unkl A G 17: 25,418,890 (GRCm39) D146G probably damaging Het
Vmn2r17 A G 5: 109,576,265 (GRCm39) T379A possibly damaging Het
Zfp35 G T 18: 24,136,927 (GRCm39) G424C probably benign Het
Zfp420 T A 7: 29,575,446 (GRCm39) H555Q probably damaging Het
Other mutations in Vmn1r51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Vmn1r51 APN 6 90,106,386 (GRCm39) missense probably benign 0.07
R3196:Vmn1r51 UTSW 6 90,106,498 (GRCm39) missense probably damaging 1.00
R5611:Vmn1r51 UTSW 6 90,106,692 (GRCm39) missense probably benign 0.04
R6402:Vmn1r51 UTSW 6 90,106,444 (GRCm39) missense probably benign 0.25
R7035:Vmn1r51 UTSW 6 90,106,207 (GRCm39) missense probably benign 0.00
R7074:Vmn1r51 UTSW 6 90,106,654 (GRCm39) missense probably benign 0.01
R7676:Vmn1r51 UTSW 6 90,106,437 (GRCm39) missense probably benign 0.37
R8900:Vmn1r51 UTSW 6 90,106,842 (GRCm39) missense probably damaging 1.00
R9468:Vmn1r51 UTSW 6 90,106,930 (GRCm39) missense probably damaging 1.00
R9672:Vmn1r51 UTSW 6 90,106,549 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGGAGCTCACACACTGATGC -3'
(R):5'- TATGAATGCCATGACCAGTAGC -3'

Sequencing Primer
(F):5'- CTGATGCAGCCACCATAGG -3'
(R):5'- TGCCATGACCAGTAGCATTAG -3'
Posted On 2018-11-28