Incidental Mutation 'IGL02742:Vmn1r123'
ID 305931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r123
Ensembl Gene ENSMUSG00000094385
Gene Name vomeronasal 1 receptor 123
Synonyms LOC384695, Gm1446
Accession Numbers
Essential gene? Not available question?
Stock # IGL02742
Quality Score
Status
Chromosome 7
Chromosomal Location 20896110-20897033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20896968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 287 (I287F)
Ref Sequence ENSEMBL: ENSMUSP00000125823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166948]
AlphaFold L7N270
Predicted Effect possibly damaging
Transcript: ENSMUST00000166948
AA Change: I287F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125823
Gene: ENSMUSG00000094385
AA Change: I287F

DomainStartEndE-ValueType
Pfam:TAS2R 8 299 7e-18 PFAM
Pfam:7tm_1 31 291 2.1e-8 PFAM
Pfam:V1R 41 298 1.9e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 103,972,824 (GRCm39) T506A probably damaging Het
Ankib1 A C 5: 3,743,479 (GRCm39) D845E probably benign Het
Atxn2 T C 5: 121,919,399 (GRCm39) V369A possibly damaging Het
Ccdc50 T A 16: 27,225,534 (GRCm39) probably benign Het
Clec2g A G 6: 128,957,224 (GRCm39) I61V possibly damaging Het
Col16a1 G A 4: 129,955,172 (GRCm39) probably benign Het
Dapk2 A G 9: 66,139,096 (GRCm39) Y139C probably damaging Het
Ecpas A G 4: 58,840,757 (GRCm39) V667A probably damaging Het
Fnip1 T C 11: 54,384,177 (GRCm39) L334P probably damaging Het
Igf1r A G 7: 67,839,739 (GRCm39) E682G possibly damaging Het
Ints8 T C 4: 11,241,627 (GRCm39) E272G possibly damaging Het
Jph2 G A 2: 163,217,699 (GRCm39) P326S probably damaging Het
Krtap1-4 T C 11: 99,473,940 (GRCm39) probably benign Het
Lrp5 A G 19: 3,654,022 (GRCm39) I1135T probably damaging Het
Lrrk1 A G 7: 65,958,439 (GRCm39) V320A probably benign Het
Myh6 A C 14: 55,191,381 (GRCm39) I820S possibly damaging Het
Napg A T 18: 63,119,319 (GRCm39) T110S probably damaging Het
Nova1 G A 12: 46,767,475 (GRCm39) Q56* probably null Het
Phyhip A G 14: 70,699,367 (GRCm39) probably null Het
Pkd2l2 C A 18: 34,549,970 (GRCm39) S205* probably null Het
Ppp2r1a G T 17: 21,179,265 (GRCm39) C101F probably benign Het
Serpinb3c G A 1: 107,200,872 (GRCm39) R182* probably null Het
St18 A C 1: 6,872,540 (GRCm39) probably benign Het
St6galnac4 C T 2: 32,487,096 (GRCm39) R264C possibly damaging Het
Tmem168 T C 6: 13,603,261 (GRCm39) Y35C probably benign Het
Tmem219 A G 7: 126,496,220 (GRCm39) L74P probably damaging Het
Trpc4 T A 3: 54,206,667 (GRCm39) N622K probably damaging Het
Trpm6 A C 19: 18,807,376 (GRCm39) probably benign Het
Ttl C A 2: 128,908,213 (GRCm39) F49L possibly damaging Het
Tut7 C T 13: 59,964,156 (GRCm39) D250N probably damaging Het
Vmn2r97 T G 17: 19,149,432 (GRCm39) I273M probably damaging Het
Wdr5 C A 2: 27,410,437 (GRCm39) probably benign Het
Zfp37 C A 4: 62,110,548 (GRCm39) C172F possibly damaging Het
Other mutations in Vmn1r123
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Vmn1r123 APN 7 20,896,216 (GRCm39) missense possibly damaging 0.93
IGL02330:Vmn1r123 APN 7 20,896,969 (GRCm39) missense probably damaging 0.99
IGL03240:Vmn1r123 APN 7 20,896,282 (GRCm39) missense possibly damaging 0.94
R1173:Vmn1r123 UTSW 7 20,896,257 (GRCm39) missense probably damaging 0.99
R6278:Vmn1r123 UTSW 7 20,896,774 (GRCm39) missense possibly damaging 0.78
R6610:Vmn1r123 UTSW 7 20,896,515 (GRCm39) missense probably benign 0.00
R6679:Vmn1r123 UTSW 7 20,896,868 (GRCm39) nonsense probably null
R7241:Vmn1r123 UTSW 7 20,896,537 (GRCm39) missense possibly damaging 0.95
R7642:Vmn1r123 UTSW 7 20,896,795 (GRCm39) missense probably benign 0.11
R7702:Vmn1r123 UTSW 7 20,896,302 (GRCm39) missense probably damaging 0.99
R7870:Vmn1r123 UTSW 7 20,896,192 (GRCm39) missense probably damaging 1.00
R7981:Vmn1r123 UTSW 7 20,896,914 (GRCm39) missense probably damaging 0.98
R8554:Vmn1r123 UTSW 7 20,896,971 (GRCm39) missense probably benign
R9079:Vmn1r123 UTSW 7 20,896,979 (GRCm39) missense probably benign 0.01
R9090:Vmn1r123 UTSW 7 20,896,794 (GRCm39) missense probably benign
R9271:Vmn1r123 UTSW 7 20,896,794 (GRCm39) missense probably benign
R9544:Vmn1r123 UTSW 7 20,896,987 (GRCm39) missense probably benign 0.30
R9779:Vmn1r123 UTSW 7 20,896,111 (GRCm39) start codon destroyed probably null 0.99
Posted On 2015-04-16