Incidental Mutation 'R6156:Or12j4'
ID 489587
Institutional Source Beutler Lab
Gene Symbol Or12j4
Ensembl Gene ENSMUSG00000056883
Gene Name olfactory receptor family 12 subfamily J member 4
Synonyms MOR252-3P, Olfr533, GA_x6K02T2PBJ9-42615403-42616365
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140046116-140047078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140046758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 215 (T215A)
Ref Sequence ENSEMBL: ENSMUSP00000150653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071755] [ENSMUST00000211093] [ENSMUST00000215308] [ENSMUST00000216258] [ENSMUST00000217179]
AlphaFold Q7TRT7
Predicted Effect probably benign
Transcript: ENSMUST00000071755
AA Change: T215A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071667
Gene: ENSMUSG00000056883
AA Change: T215A

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 7.3e-49 PFAM
Pfam:7TM_GPCR_Srsx 35 304 3e-6 PFAM
Pfam:7tm_1 41 289 5.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211093
AA Change: T215A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215308
AA Change: T215A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216258
AA Change: T215A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216292
Predicted Effect probably benign
Transcript: ENSMUST00000217179
AA Change: T215A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign Het
Other mutations in Or12j4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Or12j4 APN 7 140,046,292 (GRCm39) missense probably damaging 0.99
IGL02582:Or12j4 APN 7 140,046,560 (GRCm39) missense probably benign
IGL02954:Or12j4 APN 7 140,046,353 (GRCm39) nonsense probably null
R0790:Or12j4 UTSW 7 140,046,962 (GRCm39) missense possibly damaging 0.79
R1754:Or12j4 UTSW 7 140,046,773 (GRCm39) missense probably damaging 1.00
R1965:Or12j4 UTSW 7 140,046,574 (GRCm39) missense probably benign
R2155:Or12j4 UTSW 7 140,046,504 (GRCm39) missense probably benign 0.13
R4613:Or12j4 UTSW 7 140,046,981 (GRCm39) missense probably damaging 1.00
R4836:Or12j4 UTSW 7 140,046,989 (GRCm39) missense probably damaging 1.00
R5493:Or12j4 UTSW 7 140,046,720 (GRCm39) missense probably damaging 1.00
R5694:Or12j4 UTSW 7 140,046,644 (GRCm39) missense probably benign 0.28
R6101:Or12j4 UTSW 7 140,046,432 (GRCm39) missense probably benign 0.31
R6519:Or12j4 UTSW 7 140,046,458 (GRCm39) missense probably benign 0.01
R6672:Or12j4 UTSW 7 140,046,648 (GRCm39) missense probably damaging 1.00
R6736:Or12j4 UTSW 7 140,046,834 (GRCm39) missense probably damaging 1.00
R6736:Or12j4 UTSW 7 140,046,800 (GRCm39) missense probably damaging 1.00
R7086:Or12j4 UTSW 7 140,046,341 (GRCm39) missense possibly damaging 0.89
R7174:Or12j4 UTSW 7 140,047,076 (GRCm39) makesense probably null
R7465:Or12j4 UTSW 7 140,046,711 (GRCm39) missense probably damaging 0.99
R7486:Or12j4 UTSW 7 140,045,947 (GRCm39) start gained probably benign
R7872:Or12j4 UTSW 7 140,046,696 (GRCm39) missense probably damaging 1.00
R9013:Or12j4 UTSW 7 140,046,179 (GRCm39) missense probably benign
R9014:Or12j4 UTSW 7 140,045,883 (GRCm39) start gained probably benign
R9255:Or12j4 UTSW 7 140,046,423 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCCTTGCAACCTTTGTGTGG -3'
(R):5'- ACAGCAATGAGTTTGTCCAGGAAC -3'

Sequencing Primer
(F):5'- CACTGGAGCTTTCAATTCATTGG -3'
(R):5'- ATGAGTTTGTCCAGGAACCCAGC -3'
Posted On 2017-10-10