Incidental Mutation 'IGL01610:Vmn1r80'
ID91970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r80
Ensembl Gene ENSMUSG00000115744
Gene Namevomeronasal 1 receptor 80
SynonymsV1rg3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #IGL01610
Quality Score
Status
Chromosome7
Chromosomal Location12189286-12203313 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 12193380 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 139 (H139R)
Ref Sequence ENSEMBL: ENSMUSP00000153967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075053] [ENSMUST00000227205] [ENSMUST00000227471] [ENSMUST00000227755] [ENSMUST00000228028] [ENSMUST00000228578]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075053
AA Change: H139R

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074564
Gene: ENSMUSG00000115744
AA Change: H139R

DomainStartEndE-ValueType
Pfam:TAS2R 1 301 5.4e-11 PFAM
Pfam:7tm_1 23 290 5.3e-7 PFAM
Pfam:V1R 31 298 3e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000227205
AA Change: H139R

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227240
Predicted Effect possibly damaging
Transcript: ENSMUST00000227471
AA Change: H139R

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227755
AA Change: H139R

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228028
AA Change: H139R

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228563
Predicted Effect possibly damaging
Transcript: ENSMUST00000228578
AA Change: H139R

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018A14Rik T C 18: 46,199,566 probably benign Het
2810474O19Rik C T 6: 149,328,951 T1165M probably benign Het
4921524J17Rik T C 8: 85,412,242 I73V probably benign Het
4930562C15Rik T A 16: 4,851,565 probably benign Het
Abca15 T A 7: 120,340,644 V323D probably damaging Het
Acot10 T C 15: 20,665,695 Y320C probably damaging Het
Acp6 T A 3: 97,175,720 V349D possibly damaging Het
Adcy9 G T 16: 4,418,114 Q478K probably damaging Het
Akap13 A G 7: 75,720,180 I1843V possibly damaging Het
Akap13 A T 7: 75,747,605 I2528F probably damaging Het
Akap9 G A 5: 4,032,839 A1988T possibly damaging Het
Alox5 C T 6: 116,413,547 V490M probably damaging Het
Aspm C T 1: 139,489,670 R1537* probably null Het
Bmf G A 2: 118,549,158 P46S probably benign Het
Brf1 T A 12: 112,988,083 H92L probably benign Het
Chchd1 A G 14: 20,703,177 N35S probably benign Het
Cntnap3 C T 13: 64,757,301 G889S probably damaging Het
Col6a4 T C 9: 106,047,707 probably benign Het
Crispld1 A G 1: 17,746,725 probably null Het
Ddx27 T C 2: 167,022,044 probably benign Het
Dennd1b A G 1: 139,169,766 probably benign Het
Dennd4a T C 9: 64,906,884 V1461A probably damaging Het
Drc7 C T 8: 95,077,802 R843W probably damaging Het
Dync2li1 A G 17: 84,628,314 E13G probably damaging Het
Egf A G 3: 129,706,260 probably benign Het
Hpse2 T C 19: 43,384,789 S134G probably benign Het
Hydin A G 8: 110,557,713 T3206A probably benign Het
Ier5l T A 2: 30,473,954 S20C probably damaging Het
Il1r1 A G 1: 40,302,400 E324G probably benign Het
Kdm4b C T 17: 56,353,522 probably benign Het
Lztfl1 T A 9: 123,700,091 E298D probably benign Het
Myo1b A T 1: 51,776,246 M647K probably damaging Het
Olfr1106 G T 2: 87,048,288 probably benign Het
Olfr539 C T 7: 140,667,671 A128V probably damaging Het
Olfr619 A T 7: 103,604,067 T138S probably benign Het
Parvb A T 15: 84,303,465 K258M probably damaging Het
Pcdhb11 T G 18: 37,423,359 S581A probably benign Het
Pcnx2 C A 8: 125,839,633 A1024S possibly damaging Het
Pde4a T C 9: 21,211,350 probably benign Het
Pgr A T 9: 8,903,691 H571L possibly damaging Het
Phf20 G T 2: 156,302,889 E806* probably null Het
Pilra T A 5: 137,835,541 I85F probably damaging Het
Pla2g2f C T 4: 138,753,311 V125M probably damaging Het
Rb1cc1 A G 1: 6,248,481 N708S probably benign Het
Rnase4 A T 14: 51,104,921 Y34F probably damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpl9-ps6 T A 19: 32,466,299 T85S probably benign Het
Scaf8 C T 17: 3,195,849 P738S probably damaging Het
Sec31a A T 5: 100,402,358 probably benign Het
Sel1l C T 12: 91,817,290 V459I probably damaging Het
Senp7 A T 16: 56,175,823 D755V possibly damaging Het
Serpinb9d A T 13: 33,198,002 K151N probably benign Het
Slc8a3 A G 12: 81,315,802 F81S probably damaging Het
Spire2 T A 8: 123,356,763 L162Q probably damaging Het
Syt17 A G 7: 118,433,993 I264T possibly damaging Het
Tbl3 A T 17: 24,704,044 V379D probably damaging Het
Tenm3 A T 8: 48,254,477 L1762Q probably damaging Het
Trerf1 A T 17: 47,319,575 noncoding transcript Het
Ttc13 T C 8: 124,676,344 D552G probably damaging Het
Tuba3a G T 6: 125,278,566 T382K possibly damaging Het
Vmn1r210 A T 13: 22,827,807 V103E probably damaging Het
Xpo7 A T 14: 70,703,230 F141Y probably damaging Het
Zfp143 T A 7: 110,074,126 Y143* probably null Het
Zfp207 T A 11: 80,385,970 C26S probably damaging Het
Other mutations in Vmn1r80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01652:Vmn1r80 APN 7 12193136 missense probably benign 0.19
IGL02102:Vmn1r80 APN 7 12193691 missense probably damaging 1.00
IGL02165:Vmn1r80 APN 7 12193452 missense probably benign 0.31
IGL02328:Vmn1r80 APN 7 12193478 missense probably benign 0.12
IGL02336:Vmn1r80 APN 7 12193254 missense probably benign 0.23
IGL02606:Vmn1r80 APN 7 12193032 missense probably damaging 1.00
R0310:Vmn1r80 UTSW 7 12193848 missense probably benign 0.00
R0399:Vmn1r80 UTSW 7 12193317 missense possibly damaging 0.88
R1983:Vmn1r80 UTSW 7 12193661 missense probably benign 0.01
R2079:Vmn1r80 UTSW 7 12193194 missense probably damaging 1.00
R4278:Vmn1r80 UTSW 7 12193527 missense probably benign 0.00
R4501:Vmn1r80 UTSW 7 12193391 missense probably benign 0.39
R5894:Vmn1r80 UTSW 7 12193727 missense probably damaging 0.99
R5991:Vmn1r80 UTSW 7 12193496 missense probably benign 0.09
R6552:Vmn1r80 UTSW 7 12193757 missense probably damaging 0.98
R7560:Vmn1r80 UTSW 7 12193823 missense probably damaging 0.98
R7659:Vmn1r80 UTSW 7 12193050 missense probably damaging 1.00
R8313:Vmn1r80 UTSW 7 12193067 missense probably benign 0.00
Z1189:Vmn1r80 UTSW 7 12193433 missense probably damaging 0.99
Posted On2013-12-09