Incidental Mutation 'R2038:Vmn2r54'
ID 225295
Institutional Source Beutler Lab
Gene Symbol Vmn2r54
Ensembl Gene ENSMUSG00000096593
Gene Name vomeronasal 2, receptor 54
Synonyms
MMRRC Submission 040045-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R2038 (G1)
Quality Score 82
Status Not validated
Chromosome 7
Chromosomal Location 12349160-12374167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12363637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 419 (G419R)
Ref Sequence ENSEMBL: ENSMUSP00000083386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086210]
AlphaFold A0A3B2W422
Predicted Effect possibly damaging
Transcript: ENSMUST00000086210
AA Change: G419R

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: G419R

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,389,762 (GRCm39) Y54C probably damaging Het
Adgrf4 A T 17: 42,978,754 (GRCm39) H196Q probably damaging Het
Astn1 T G 1: 158,484,690 (GRCm39) S918A probably benign Het
Cd79a A T 7: 24,598,782 (GRCm39) K110N probably benign Het
Cdc34b C T 11: 94,633,114 (GRCm39) Q105* probably null Het
Cdh23 T C 10: 60,148,366 (GRCm39) D2667G probably damaging Het
Clpx G A 9: 65,224,775 (GRCm39) G168R probably damaging Het
Col8a2 T C 4: 126,205,108 (GRCm39) probably benign Het
Ddx27 G A 2: 166,875,675 (GRCm39) E669K probably damaging Het
Dnah8 A T 17: 30,977,255 (GRCm39) I2898F probably damaging Het
Dus2 T C 8: 106,775,294 (GRCm39) Y274H probably damaging Het
Dync2h1 A G 9: 6,967,226 (GRCm39) S4073P probably damaging Het
Dynlrb2 G A 8: 117,241,549 (GRCm39) R31Q possibly damaging Het
Esyt1 C T 10: 128,347,820 (GRCm39) V957I probably benign Het
Fhdc1 A T 3: 84,351,868 (GRCm39) L1119Q probably benign Het
H2-T10 T C 17: 36,430,317 (GRCm39) K212E probably benign Het
H60b A T 10: 22,162,114 (GRCm39) N113I probably benign Het
Hace1 A C 10: 45,576,721 (GRCm39) K798Q probably benign Het
Hdac7 C T 15: 97,696,151 (GRCm39) R631H probably damaging Het
Kat7 T A 11: 95,190,928 (GRCm39) I153F probably benign Het
Lman1 T C 18: 66,131,681 (GRCm39) T101A probably benign Het
Mapk8 A T 14: 33,110,893 (GRCm39) C245* probably null Het
Mfhas1 T A 8: 36,058,431 (GRCm39) W969R probably damaging Het
Mlxipl A T 5: 135,135,853 (GRCm39) D26V probably damaging Het
Msh5 A G 17: 35,265,016 (GRCm39) V53A probably benign Het
Msl2 C A 9: 100,979,183 (GRCm39) A519D probably damaging Het
Nbeal1 A G 1: 60,245,503 (GRCm39) S176G probably benign Het
Ninl T A 2: 150,817,763 (GRCm39) K134* probably null Het
Or10d1 A G 9: 39,484,283 (GRCm39) S91P probably damaging Het
Or1e25 T A 11: 73,494,239 (GRCm39) Y278N probably damaging Het
Or4a68 C A 2: 89,269,689 (GRCm39) M311I probably benign Het
Pabpn1 T G 14: 55,134,609 (GRCm39) I250S probably damaging Het
Ppp4r4 G A 12: 103,542,539 (GRCm39) probably null Het
Rad51ap2 T C 12: 11,507,025 (GRCm39) S316P possibly damaging Het
Scn7a C A 2: 66,567,780 (GRCm39) W271C probably damaging Het
Set T C 2: 29,960,212 (GRCm39) S182P probably benign Het
Sez6l T C 5: 112,620,618 (GRCm39) T321A possibly damaging Het
Sfpq A T 4: 126,915,295 (GRCm39) H29L unknown Het
Slc33a1 A G 3: 63,855,577 (GRCm39) L356P probably damaging Het
Sptbn1 C G 11: 30,109,293 (GRCm39) probably null Het
Srrd C T 5: 112,486,316 (GRCm39) G179D probably benign Het
Taf4b T C 18: 14,940,456 (GRCm39) S312P probably damaging Het
Tgfbrap1 A T 1: 43,093,794 (GRCm39) L566* probably null Het
Tln2 T A 9: 67,304,935 (GRCm39) M1L probably benign Het
Ttc27 T C 17: 75,163,497 (GRCm39) F702L probably benign Het
Vps13b A G 15: 35,884,887 (GRCm39) S3187G probably damaging Het
Vps13d C A 4: 144,907,685 (GRCm39) probably null Het
Vps35l T C 7: 118,411,097 (GRCm39) F677L probably damaging Het
Zfp568 A T 7: 29,688,507 (GRCm39) E23V probably null 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
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
R6886:Vmn2r54 UTSW 7 12,366,080 (GRCm39) missense probably benign 0.02
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'- TCTCTTGTAAGGTAAAGAGCATGG -3'
(R):5'- GAACAGTCCCTGGACAGTCAAC -3'

Sequencing Primer
(F):5'- GGTAAAGAGCATGGTCAGTTATAAC -3'
(R):5'- GTCCCTGGACAGTCAACAATATTTC -3'
Posted On 2014-08-25