Incidental Mutation 'R7374:Vmn1r52'
ID 572268
Institutional Source Beutler Lab
Gene Symbol Vmn1r52
Ensembl Gene ENSMUSG00000060816
Gene Name vomeronasal 1 receptor 52
Synonyms V1ra7, VN3
MMRRC Submission 045457-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R7374 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 90155698-90156627 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90156118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 141 (I141F)
Ref Sequence ENSEMBL: ENSMUSP00000078760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079832] [ENSMUST00000226520] [ENSMUST00000227100] [ENSMUST00000227578] [ENSMUST00000227893] [ENSMUST00000228385] [ENSMUST00000228394] [ENSMUST00000228665]
AlphaFold Q9EP79
Predicted Effect probably benign
Transcript: ENSMUST00000079832
AA Change: I141F

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000078760
Gene: ENSMUSG00000060816
AA Change: I141F

DomainStartEndE-ValueType
Pfam:V1R 38 302 1e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226520
AA Change: I141F

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000227100
Predicted Effect probably benign
Transcript: ENSMUST00000227578
Predicted Effect probably benign
Transcript: ENSMUST00000227893
AA Change: I141F

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000228385
Predicted Effect probably benign
Transcript: ENSMUST00000228394
AA Change: I141F

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000228665
AA Change: I141F

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,242,136 (GRCm39) T1333I possibly damaging Het
Abcd4 A T 12: 84,653,017 (GRCm39) L395* probably null Het
Cdh23 G A 10: 60,153,679 (GRCm39) R2304W probably damaging Het
Ckap2l T C 2: 129,126,883 (GRCm39) T432A probably damaging Het
Cplane1 T A 15: 8,276,731 (GRCm39) W2792R unknown Het
Cyp2c68 T C 19: 39,727,648 (GRCm39) probably null Het
Ddx51 C A 5: 110,804,998 (GRCm39) T580K probably damaging Het
Fbxo44 T A 4: 148,241,094 (GRCm39) D112V probably benign Het
Ffar2 T C 7: 30,519,465 (GRCm39) N25S probably damaging Het
Gas6 A T 8: 13,524,802 (GRCm39) V330D probably damaging Het
Gfpt1 A G 6: 87,027,959 (GRCm39) T22A probably benign Het
Gm3371 A G 14: 44,641,240 (GRCm39) V108A Het
Gm8257 T C 14: 44,887,740 (GRCm39) E215G probably benign Het
Gria1 T A 11: 57,080,634 (GRCm39) S206T probably benign Het
Gria2 T C 3: 80,648,383 (GRCm39) T118A probably benign Het
Hfe T G 13: 23,890,030 (GRCm39) T248P probably damaging Het
Kdm5d T C Y: 941,491 (GRCm39) W1231R probably benign Het
Ltbp2 C T 12: 84,876,949 (GRCm39) D419N probably damaging Het
Mei1 G A 15: 81,980,109 (GRCm39) A232T Het
Mgam G A 6: 40,734,373 (GRCm39) E1473K possibly damaging Het
Mtbp A C 15: 55,426,355 (GRCm39) E99A possibly damaging Het
Muc5b A T 7: 141,416,863 (GRCm39) T3270S probably benign Het
Myl2 A G 5: 122,239,726 (GRCm39) Y28C Het
Nrxn1 A G 17: 90,896,097 (GRCm39) probably null Het
Ntn4 A G 10: 93,518,434 (GRCm39) H247R probably benign Het
Numa1 T C 7: 101,658,335 (GRCm39) V1568A probably benign Het
Nyap1 C T 5: 137,733,791 (GRCm39) G414D probably damaging Het
Or5p68 A G 7: 107,946,095 (GRCm39) F31S probably damaging Het
Or8k25 C A 2: 86,244,196 (GRCm39) A67S probably benign Het
Pdgfrb G A 18: 61,204,780 (GRCm39) V547I possibly damaging Het
Pom121l12 A T 11: 14,549,962 (GRCm39) M223L probably benign Het
Prps1l1 T C 12: 35,035,424 (GRCm39) S180P possibly damaging Het
Ptprf A G 4: 118,114,689 (GRCm39) S189P probably damaging Het
Radil G A 5: 142,471,235 (GRCm39) R1014W probably damaging Het
Rfx5 C T 3: 94,866,053 (GRCm39) P451S unknown Het
Rhbdl2 G C 4: 123,711,658 (GRCm39) V132L probably benign Het
Slc15a2 G T 16: 36,572,207 (GRCm39) T719K probably benign Het
Slc9a9 A G 9: 94,937,542 (GRCm39) T465A possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Sv2a A T 3: 96,095,525 (GRCm39) Y306F probably benign Het
Sv2c A T 13: 96,125,644 (GRCm39) H364Q probably damaging Het
Tmem181a T A 17: 6,354,533 (GRCm39) L401Q possibly damaging Het
Trav9d-4 A G 14: 53,221,300 (GRCm39) Y98C probably damaging Het
Trim33 T A 3: 103,217,639 (GRCm39) C195S probably damaging Het
Uroc1 T C 6: 90,315,815 (GRCm39) Y191H probably damaging Het
Usp9y T C Y: 1,381,305 (GRCm39) I839V probably benign Het
Vmn1r59 T C 7: 5,457,160 (GRCm39) H200R probably damaging Het
Vmn2r68 A T 7: 84,881,607 (GRCm39) M491K possibly damaging Het
Vmn2r74 T C 7: 85,606,630 (GRCm39) I239V probably benign Het
Wrn A C 8: 33,758,939 (GRCm39) C1006W probably damaging Het
Other mutations in Vmn1r52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:Vmn1r52 APN 6 90,155,905 (GRCm39) missense probably benign
IGL02102:Vmn1r52 APN 6 90,156,189 (GRCm39) missense possibly damaging 0.92
IGL02583:Vmn1r52 APN 6 90,156,126 (GRCm39) nonsense probably null
IGL02938:Vmn1r52 APN 6 90,156,295 (GRCm39) missense possibly damaging 0.58
R0233:Vmn1r52 UTSW 6 90,156,593 (GRCm39) missense possibly damaging 0.96
R0233:Vmn1r52 UTSW 6 90,156,593 (GRCm39) missense possibly damaging 0.96
R0904:Vmn1r52 UTSW 6 90,156,446 (GRCm39) missense probably damaging 0.98
R2190:Vmn1r52 UTSW 6 90,156,151 (GRCm39) missense probably benign 0.12
R4184:Vmn1r52 UTSW 6 90,156,219 (GRCm39) missense probably benign 0.00
R4906:Vmn1r52 UTSW 6 90,155,930 (GRCm39) missense possibly damaging 0.63
R5475:Vmn1r52 UTSW 6 90,155,894 (GRCm39) missense probably benign 0.04
R5689:Vmn1r52 UTSW 6 90,156,232 (GRCm39) missense possibly damaging 0.95
R5740:Vmn1r52 UTSW 6 90,156,176 (GRCm39) missense probably benign 0.02
R7263:Vmn1r52 UTSW 6 90,156,535 (GRCm39) missense probably benign 0.00
R7337:Vmn1r52 UTSW 6 90,156,605 (GRCm39) missense probably benign 0.31
R8161:Vmn1r52 UTSW 6 90,156,239 (GRCm39) missense possibly damaging 0.73
R8699:Vmn1r52 UTSW 6 90,155,742 (GRCm39) missense probably benign 0.02
R8747:Vmn1r52 UTSW 6 90,156,451 (GRCm39) missense probably benign 0.36
R9721:Vmn1r52 UTSW 6 90,156,008 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTTCAGGAGGATGGGATGAC -3'
(R):5'- TAGCCATGTAGCATGTCGAGAG -3'

Sequencing Primer
(F):5'- GGGATGACATCACATGTAAACTAGTC -3'
(R):5'- TAGCATGTCGAGAGGCCCATG -3'
Posted On 2019-09-13