Incidental Mutation 'R6886:Vmn2r54'
ID 536949
Institutional Source Beutler Lab
Gene Symbol Vmn2r54
Ensembl Gene ENSMUSG00000096593
Gene Name vomeronasal 2, receptor 54
Synonyms
MMRRC Submission 044980-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R6886 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 12349160-12374167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12366080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 285 (F285L)
Ref Sequence ENSEMBL: ENSMUSP00000083386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086210]
AlphaFold A0A3B2W422
Predicted Effect probably benign
Transcript: ENSMUST00000086210
AA Change: F285L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: F285L

DomainStartEndE-ValueType
Pfam:ANF_receptor 5 397 4.3e-58 PFAM
Pfam:NCD3G 442 495 2.2e-19 PFAM
Pfam:7tm_3 526 763 1.2e-54 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,518,706 (GRCm39) M44K probably benign Het
Bad T C 19: 6,928,702 (GRCm39) probably benign Het
Bbs12 A G 3: 37,373,390 (GRCm39) D61G probably damaging Het
Bcr C T 10: 74,989,769 (GRCm39) R722C probably damaging Het
Carf C A 1: 60,175,413 (GRCm39) probably null Het
Ccdc181 A G 1: 164,107,665 (GRCm39) E116G probably damaging Het
Celsr1 A G 15: 85,915,855 (GRCm39) V706A probably benign Het
Col9a1 T A 1: 24,224,426 (GRCm39) S203T unknown Het
Ctsl T C 13: 64,512,961 (GRCm39) probably null Het
Exosc7 A T 9: 122,965,023 (GRCm39) E277D probably benign Het
Fam20b A T 1: 156,518,081 (GRCm39) W238R probably damaging Het
Fanci A T 7: 79,070,090 (GRCm39) H430L possibly damaging Het
Fstl4 A G 11: 53,077,277 (GRCm39) D678G probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gm11569 T A 11: 99,689,247 (GRCm39) probably benign Het
Igfn1 G A 1: 135,901,198 (GRCm39) R306W probably damaging Het
Il6 C T 5: 30,223,201 (GRCm39) probably benign Het
Khdc1c T C 1: 21,439,749 (GRCm39) L100P possibly damaging Het
Kif18a G A 2: 109,127,008 (GRCm39) R314H probably damaging Het
Kif26b A C 1: 178,701,703 (GRCm39) K694T probably damaging Het
Kndc1 A G 7: 139,493,485 (GRCm39) T484A probably benign Het
Lonrf1 T C 8: 36,696,191 (GRCm39) probably null Het
Man1a2 C T 3: 100,563,387 (GRCm39) G169D probably benign Het
Med6 G T 12: 81,638,159 (GRCm39) D17E probably damaging Het
Neb T C 2: 52,110,236 (GRCm39) K204R probably damaging Het
Nhlrc1 T A 13: 47,167,252 (GRCm39) N335I possibly damaging Het
Nlrp12 T C 7: 3,289,313 (GRCm39) M400V probably benign Het
Or7e173 G T 9: 19,938,428 (GRCm39) H269N probably benign Het
Or8k22 A T 2: 86,163,408 (GRCm39) C97* probably null Het
Pkhd1 C T 1: 20,417,504 (GRCm39) S2549N probably benign Het
Pramel26 A G 4: 143,539,332 (GRCm39) F54L probably benign Het
Rab4b A C 7: 26,872,381 (GRCm39) L145R probably damaging Het
Rad50 T C 11: 53,577,011 (GRCm39) I526V probably benign Het
Rel T C 11: 23,694,304 (GRCm39) H309R probably benign Het
Rnf2 G T 1: 151,349,017 (GRCm39) N34K possibly damaging Het
Serpina3m G T 12: 104,355,386 (GRCm39) V18F possibly damaging Het
Serpinb9c T C 13: 33,334,310 (GRCm39) K244R probably benign Het
Setbp1 T A 18: 78,900,715 (GRCm39) Y984F probably damaging Het
Slc12a5 T A 2: 164,824,825 (GRCm39) M410K probably benign Het
Smarca4 C T 9: 21,570,127 (GRCm39) A710V probably damaging Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Ssrp1 T A 2: 84,870,280 (GRCm39) D101E probably benign Het
Tax1bp1 A T 6: 52,710,208 (GRCm39) E162D probably benign Het
Tenm4 T A 7: 96,446,599 (GRCm39) M823K possibly damaging Het
Tesk1 A G 4: 43,443,592 (GRCm39) D53G possibly damaging Het
Tnrc6a T A 7: 122,786,668 (GRCm39) S1577T probably benign Het
Tpr A G 1: 150,299,716 (GRCm39) I1270V probably benign Het
Trp53bp2 T C 1: 182,256,608 (GRCm39) probably null Het
Ube4a A T 9: 44,860,141 (GRCm39) I307N probably damaging Het
Unc13b A G 4: 43,170,156 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,166,927 (GRCm39) K735E probably damaging Het
Vmn2r81 T G 10: 79,103,988 (GRCm39) S204A possibly damaging Het
Washc1 A G 17: 66,426,061 (GRCm39) D453G probably damaging Het
Zfp329 T A 7: 12,544,025 (GRCm39) I500L probably benign Het
Zfp516 A G 18: 82,975,125 (GRCm39) D441G probably benign Het
Zfp644 T C 5: 106,785,777 (GRCm39) T257A possibly damaging Het
Other mutations in Vmn2r54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Vmn2r54 APN 7 12,365,840 (GRCm39) splice site probably benign
IGL01778:Vmn2r54 APN 7 12,366,009 (GRCm39) missense probably benign 0.07
IGL01998:Vmn2r54 APN 7 12,349,227 (GRCm39) missense probably benign
IGL02028:Vmn2r54 APN 7 12,366,088 (GRCm39) missense probably damaging 1.00
IGL02064:Vmn2r54 APN 7 12,349,533 (GRCm39) missense probably benign 0.02
IGL02238:Vmn2r54 APN 7 12,369,910 (GRCm39) missense probably damaging 1.00
IGL03062:Vmn2r54 APN 7 12,366,355 (GRCm39) missense probably damaging 0.98
IGL03120:Vmn2r54 APN 7 12,349,314 (GRCm39) missense probably damaging 1.00
PIT4453001:Vmn2r54 UTSW 7 12,363,669 (GRCm39) missense probably benign 0.06
R0212:Vmn2r54 UTSW 7 12,366,424 (GRCm39) missense probably benign
R0360:Vmn2r54 UTSW 7 12,349,576 (GRCm39) missense probably damaging 1.00
R1646:Vmn2r54 UTSW 7 12,366,434 (GRCm39) missense probably damaging 1.00
R1673:Vmn2r54 UTSW 7 12,350,138 (GRCm39) critical splice acceptor site probably null
R1738:Vmn2r54 UTSW 7 12,369,815 (GRCm39) missense probably benign 0.00
R1856:Vmn2r54 UTSW 7 12,366,238 (GRCm39) missense probably benign
R2012:Vmn2r54 UTSW 7 12,349,804 (GRCm39) missense probably damaging 1.00
R2038:Vmn2r54 UTSW 7 12,363,637 (GRCm39) missense possibly damaging 0.94
R2160:Vmn2r54 UTSW 7 12,349,420 (GRCm39) missense probably benign 0.29
R2397:Vmn2r54 UTSW 7 12,349,578 (GRCm39) missense probably damaging 0.98
R2430:Vmn2r54 UTSW 7 12,365,933 (GRCm39) missense probably damaging 0.99
R2829:Vmn2r54 UTSW 7 12,349,617 (GRCm39) missense possibly damaging 0.62
R2975:Vmn2r54 UTSW 7 12,369,919 (GRCm39) missense possibly damaging 0.92
R3005:Vmn2r54 UTSW 7 12,349,221 (GRCm39) missense probably benign 0.28
R3725:Vmn2r54 UTSW 7 12,366,223 (GRCm39) missense probably benign 0.42
R4486:Vmn2r54 UTSW 7 12,366,199 (GRCm39) nonsense probably null
R4881:Vmn2r54 UTSW 7 12,363,598 (GRCm39) missense probably benign 0.00
R4907:Vmn2r54 UTSW 7 12,350,150 (GRCm39) splice site probably null
R5536:Vmn2r54 UTSW 7 12,366,343 (GRCm39) missense probably benign 0.03
R5637:Vmn2r54 UTSW 7 12,349,296 (GRCm39) missense probably benign 0.41
R5703:Vmn2r54 UTSW 7 12,363,594 (GRCm39) missense probably benign 0.22
R5769:Vmn2r54 UTSW 7 12,349,209 (GRCm39) missense possibly damaging 0.73
R5972:Vmn2r54 UTSW 7 12,369,874 (GRCm39) missense probably damaging 1.00
R5972:Vmn2r54 UTSW 7 12,349,279 (GRCm39) missense probably damaging 1.00
R5977:Vmn2r54 UTSW 7 12,366,143 (GRCm39) missense probably damaging 1.00
R6084:Vmn2r54 UTSW 7 12,366,205 (GRCm39) missense probably damaging 0.98
R6176:Vmn2r54 UTSW 7 12,349,908 (GRCm39) missense probably damaging 1.00
R6229:Vmn2r54 UTSW 7 12,365,883 (GRCm39) missense probably benign 0.00
R6371:Vmn2r54 UTSW 7 12,349,362 (GRCm39) missense probably damaging 1.00
R6374:Vmn2r54 UTSW 7 12,349,420 (GRCm39) missense probably damaging 1.00
R6804:Vmn2r54 UTSW 7 12,363,792 (GRCm39) missense probably benign
R7041:Vmn2r54 UTSW 7 12,363,751 (GRCm39) missense probably damaging 0.99
R7058:Vmn2r54 UTSW 7 12,349,722 (GRCm39) missense possibly damaging 0.70
R7113:Vmn2r54 UTSW 7 12,350,001 (GRCm39) missense probably damaging 1.00
R7124:Vmn2r54 UTSW 7 12,356,078 (GRCm39) missense probably benign 0.00
R7126:Vmn2r54 UTSW 7 12,366,088 (GRCm39) missense possibly damaging 0.91
R7236:Vmn2r54 UTSW 7 12,365,917 (GRCm39) missense possibly damaging 0.84
R7337:Vmn2r54 UTSW 7 12,356,044 (GRCm39) missense probably benign 0.00
R7406:Vmn2r54 UTSW 7 12,350,150 (GRCm39) splice site probably null
R7634:Vmn2r54 UTSW 7 12,349,630 (GRCm39) missense probably damaging 1.00
R7793:Vmn2r54 UTSW 7 12,366,196 (GRCm39) missense probably damaging 0.98
R8139:Vmn2r54 UTSW 7 12,349,743 (GRCm39) missense possibly damaging 0.92
R8158:Vmn2r54 UTSW 7 12,349,888 (GRCm39) missense probably damaging 1.00
R8179:Vmn2r54 UTSW 7 12,366,018 (GRCm39) nonsense probably null
R8440:Vmn2r54 UTSW 7 12,350,013 (GRCm39) missense possibly damaging 0.72
R8712:Vmn2r54 UTSW 7 12,369,877 (GRCm39) missense probably benign 0.22
R8853:Vmn2r54 UTSW 7 12,349,782 (GRCm39) missense probably damaging 1.00
R8859:Vmn2r54 UTSW 7 12,363,702 (GRCm39) missense possibly damaging 0.70
R9146:Vmn2r54 UTSW 7 12,366,647 (GRCm39) missense probably benign 0.05
R9157:Vmn2r54 UTSW 7 12,366,055 (GRCm39) missense possibly damaging 0.93
R9344:Vmn2r54 UTSW 7 12,366,283 (GRCm39) missense probably benign
R9423:Vmn2r54 UTSW 7 12,349,441 (GRCm39) missense probably damaging 1.00
R9534:Vmn2r54 UTSW 7 12,366,093 (GRCm39) missense probably benign 0.03
R9632:Vmn2r54 UTSW 7 12,363,753 (GRCm39) missense possibly damaging 0.74
R9661:Vmn2r54 UTSW 7 12,349,166 (GRCm39) missense probably benign
R9710:Vmn2r54 UTSW 7 12,363,753 (GRCm39) missense possibly damaging 0.74
U24488:Vmn2r54 UTSW 7 12,349,356 (GRCm39) missense possibly damaging 0.84
X0066:Vmn2r54 UTSW 7 12,349,297 (GRCm39) missense probably damaging 1.00
Z1177:Vmn2r54 UTSW 7 12,366,035 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CATATTGTGCAGAGCATGGGC -3'
(R):5'- AGCTCATCCTACGTGGTTTACTG -3'

Sequencing Primer
(F):5'- CATGGGCAATGCTGTAGACAG -3'
(R):5'- TGGGTCAGCAAAGGCACTCTG -3'
Posted On 2018-10-18