Incidental Mutation 'R4923:Or12j3'
ID 378784
Institutional Source Beutler Lab
Gene Symbol Or12j3
Ensembl Gene ENSMUSG00000060974
Gene Name olfactory receptor family 12 subfamily J member 3
Synonyms Olfr530, GA_x6K02T2PBJ9-42523824-42522901, MOR252-2
MMRRC Submission 042525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4923 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 139952598-139953521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 139952920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 201 (T201K)
Ref Sequence ENSEMBL: ENSMUSP00000149475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074177] [ENSMUST00000216727]
AlphaFold Q8VFE8
Predicted Effect probably benign
Transcript: ENSMUST00000074177
AA Change: T201K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000073808
Gene: ENSMUSG00000060974
AA Change: T201K

DomainStartEndE-ValueType
Pfam:7tm_4 28 307 4.8e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 304 1.8e-6 PFAM
Pfam:7tm_1 41 289 1.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211097
Predicted Effect probably benign
Transcript: ENSMUST00000216727
AA Change: T201K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 98% (107/109)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,287,372 (GRCm39) D124G probably benign Het
Akr1c6 T C 13: 4,504,494 (GRCm39) M293T probably damaging Het
Albfm1 A G 5: 90,709,158 (GRCm39) T23A probably benign Het
Ankhd1 A G 18: 36,722,505 (GRCm39) T343A probably damaging Het
Ano2 T C 6: 125,880,018 (GRCm39) probably benign Het
Arfgap2 G A 2: 91,104,004 (GRCm39) G353R probably damaging Het
Armc3 A G 2: 19,297,791 (GRCm39) probably null Het
Atp11b T C 3: 35,889,528 (GRCm39) probably null Het
Brd4 A G 17: 32,418,214 (GRCm39) M13T probably benign Het
Btd T A 14: 31,384,044 (GRCm39) M10K possibly damaging Het
C1s2 T C 6: 124,602,649 (GRCm39) K515E probably benign Het
Cars1 A T 7: 143,123,587 (GRCm39) Y455N probably damaging Het
Ccdc110 A G 8: 46,396,460 (GRCm39) S784G probably benign Het
Chic2 A G 5: 75,171,872 (GRCm39) probably benign Het
Chka A T 19: 3,942,105 (GRCm39) probably null Het
Chrne A G 11: 70,506,101 (GRCm39) I420T possibly damaging Het
Clstn1 T C 4: 149,729,486 (GRCm39) V747A probably benign Het
Cobll1 A G 2: 64,929,602 (GRCm39) S575P possibly damaging Het
Col6a6 A T 9: 105,666,147 (GRCm39) L3Q probably damaging Het
Comtd1 A T 14: 21,898,813 (GRCm39) probably benign Het
Cpsf2 T C 12: 101,948,243 (GRCm39) V13A probably benign Het
Creb3l4 T A 3: 90,149,521 (GRCm39) I115L probably benign Het
Cyp2j12 C T 4: 95,990,346 (GRCm39) A407T possibly damaging Het
Ddr2 A G 1: 169,825,498 (GRCm39) probably null Het
Dennd4c T C 4: 86,725,775 (GRCm39) L743P probably damaging Het
Egfl8 T C 17: 34,833,171 (GRCm39) T192A probably benign Het
Elapor1 C T 3: 108,379,284 (GRCm39) probably null Het
Elf3 A G 1: 135,184,473 (GRCm39) probably benign Het
Entrep2 A G 7: 64,417,439 (GRCm39) S322P probably benign Het
Etv3 T G 3: 87,443,223 (GRCm39) L269R possibly damaging Het
Fah C A 7: 84,251,260 (GRCm39) probably benign Het
Fbll1 C A 11: 35,688,407 (GRCm39) L285F probably benign Het
Fcrla A T 1: 170,748,682 (GRCm39) F154I probably damaging Het
Fnip2 T A 3: 79,396,701 (GRCm39) probably null Het
Focad T C 4: 88,115,083 (GRCm39) probably benign Het
Gabrr1 T A 4: 33,162,820 (GRCm39) I462N possibly damaging Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
Gnptab A G 10: 88,265,485 (GRCm39) T366A probably benign Het
Hnrnpu G A 1: 178,159,017 (GRCm39) probably benign Het
Il17ra T A 6: 120,454,406 (GRCm39) V299E possibly damaging Het
Impg1 G A 9: 80,252,360 (GRCm39) Q607* probably null Het
Impg1 T A 9: 80,252,827 (GRCm39) E374V probably damaging Het
Itgax C T 7: 127,747,700 (GRCm39) L1039F probably benign Het
Kcnk2 A T 1: 189,072,133 (GRCm39) V65D probably damaging Het
Kif20b A C 19: 34,918,611 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lama5 T G 2: 179,825,942 (GRCm39) I2372L probably benign Het
Lilrb4a A G 10: 51,368,139 (GRCm39) T85A possibly damaging Het
Mapk13 C A 17: 28,997,197 (GRCm39) H330N probably benign Het
Mars1 C A 10: 127,132,549 (GRCm39) probably benign Het
Mdga1 C A 17: 30,057,052 (GRCm39) R818L probably damaging Het
Mdn1 T A 4: 32,671,608 (GRCm39) L476Q possibly damaging Het
Mup21 T C 4: 62,066,202 (GRCm39) E178G probably benign Het
Myg1 A G 15: 102,240,288 (GRCm39) N38S probably benign Het
Ncam1 A T 9: 49,416,779 (GRCm39) D837E probably benign Het
Ncam2 C T 16: 81,386,679 (GRCm39) P686L possibly damaging Het
Nck2 T C 1: 43,500,231 (GRCm39) probably benign Het
Nfya T C 17: 48,707,563 (GRCm39) probably benign Het
Npat A G 9: 53,482,330 (GRCm39) K1346R probably damaging Het
Odad2 C G 18: 7,181,787 (GRCm39) D846H probably damaging Het
Or4a72 T C 2: 89,406,023 (GRCm39) T16A probably damaging Het
Or6c212 A G 10: 129,558,681 (GRCm39) V244A probably benign Het
Pde7b G T 10: 20,288,873 (GRCm39) Q325K probably damaging Het
Pla2r1 A T 2: 60,253,056 (GRCm39) M1345K probably benign Het
Prkcz T C 4: 155,441,946 (GRCm39) D62G probably damaging Het
Pros1 T A 16: 62,723,935 (GRCm39) C228S possibly damaging Het
Ptprc A G 1: 138,006,236 (GRCm39) M782T possibly damaging Het
Rcn1 T C 2: 105,219,518 (GRCm39) D225G probably benign Het
Recql4 G A 15: 76,594,381 (GRCm39) R46C probably damaging Het
Rnf220 C T 4: 117,346,797 (GRCm39) R205Q possibly damaging Het
Samd13 T C 3: 146,368,502 (GRCm39) D11G probably benign Het
Scp2d1 T A 2: 144,666,030 (GRCm39) I123K probably benign Het
Skap1 A T 11: 96,644,870 (GRCm39) Y311F probably damaging Het
Slc2a10 T C 2: 165,356,676 (GRCm39) I112T possibly damaging Het
Slc34a1 G A 13: 24,003,078 (GRCm39) V243M probably benign Het
Slc39a2 G A 14: 52,132,711 (GRCm39) G218D probably damaging Het
Sos1 T C 17: 80,742,381 (GRCm39) N382S probably benign Het
Spam1 C T 6: 24,796,655 (GRCm39) T202I probably damaging Het
Tas2r138 T A 6: 40,589,820 (GRCm39) Q142L possibly damaging Het
Tec T A 5: 72,939,365 (GRCm39) R217* probably null Het
Tmeff2 T A 1: 50,969,804 (GRCm39) V90D probably benign Het
Tmem119 T C 5: 113,933,405 (GRCm39) Y132C probably damaging Het
Topbp1 A G 9: 103,190,035 (GRCm39) I204V probably benign Het
Trappc14 A T 5: 138,260,641 (GRCm39) probably benign Het
Ttn A T 2: 76,601,232 (GRCm39) I17001N probably damaging Het
Vit T A 17: 78,894,270 (GRCm39) M224K probably benign Het
Vmn1r179 T G 7: 23,628,491 (GRCm39) H227Q possibly damaging Het
Vmn1r84 T C 7: 12,095,743 (GRCm39) N305D probably benign Het
Vmn2r61 A G 7: 41,916,520 (GRCm39) N378D probably damaging Het
Vmn2r87 A G 10: 130,314,435 (GRCm39) Y384H probably damaging Het
Wiz C T 17: 32,580,570 (GRCm39) A294T probably benign Het
Xdh C A 17: 74,231,931 (GRCm39) V260L possibly damaging Het
Xirp2 A G 2: 67,343,237 (GRCm39) K1826R probably benign Het
Zfp445 A C 9: 122,681,358 (GRCm39) I861R probably benign Het
Zfp691 T C 4: 119,027,999 (GRCm39) T78A probably benign Het
Other mutations in Or12j3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Or12j3 APN 7 139,953,098 (GRCm39) missense probably benign 0.01
IGL01785:Or12j3 APN 7 139,953,038 (GRCm39) missense probably benign
IGL01786:Or12j3 APN 7 139,953,038 (GRCm39) missense probably benign
IGL03087:Or12j3 APN 7 139,953,005 (GRCm39) missense probably damaging 1.00
R0543:Or12j3 UTSW 7 139,953,307 (GRCm39) missense probably benign 0.07
R0634:Or12j3 UTSW 7 139,953,310 (GRCm39) missense possibly damaging 0.88
R1470:Or12j3 UTSW 7 139,953,026 (GRCm39) missense probably benign 0.03
R1470:Or12j3 UTSW 7 139,953,026 (GRCm39) missense probably benign 0.03
R1553:Or12j3 UTSW 7 139,952,951 (GRCm39) missense probably damaging 1.00
R1702:Or12j3 UTSW 7 139,952,655 (GRCm39) nonsense probably null
R1767:Or12j3 UTSW 7 139,953,389 (GRCm39) missense possibly damaging 0.95
R2379:Or12j3 UTSW 7 139,952,748 (GRCm39) nonsense probably null
R4243:Or12j3 UTSW 7 139,952,857 (GRCm39) missense probably benign 0.01
R4281:Or12j3 UTSW 7 139,953,385 (GRCm39) missense probably benign 0.10
R4717:Or12j3 UTSW 7 139,953,328 (GRCm39) missense probably damaging 0.99
R5763:Or12j3 UTSW 7 139,953,568 (GRCm39) critical splice acceptor site probably null
R6126:Or12j3 UTSW 7 139,953,166 (GRCm39) missense probably damaging 1.00
R6528:Or12j3 UTSW 7 139,953,354 (GRCm39) missense possibly damaging 0.81
R7469:Or12j3 UTSW 7 139,953,050 (GRCm39) missense possibly damaging 0.93
R8081:Or12j3 UTSW 7 139,952,972 (GRCm39) missense probably damaging 1.00
R8881:Or12j3 UTSW 7 139,952,698 (GRCm39) missense probably benign 0.01
R8922:Or12j3 UTSW 7 139,953,389 (GRCm39) missense possibly damaging 0.88
R9161:Or12j3 UTSW 7 139,952,989 (GRCm39) missense probably damaging 1.00
R9389:Or12j3 UTSW 7 139,952,930 (GRCm39) missense probably benign 0.02
Z1177:Or12j3 UTSW 7 139,952,716 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GCTGGCCGGACATAAGTATAG -3'
(R):5'- TGCACTATGGCACCCTCATG -3'

Sequencing Primer
(F):5'- CTGGCCGGACATAAGTATAGAGAAC -3'
(R):5'- TCATGAGCGGCAAGGTCTG -3'
Posted On 2016-04-15