Incidental Mutation 'R2392:Or12d17'
ID 247838
Institutional Source Beutler Lab
Gene Symbol Or12d17
Ensembl Gene ENSMUSG00000029184
Gene Name olfactory receptor family 12 subfamily D member 17
Synonyms GA_x6K02T2PSCP-1914078-1915022, Olfr109, MOR250-1
MMRRC Submission 040360-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R2392 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37777099-37778043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37777310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 71 (Y71C)
Ref Sequence ENSEMBL: ENSMUSP00000150044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031086] [ENSMUST00000214668] [ENSMUST00000214938] [ENSMUST00000217602]
AlphaFold Q8VG96
Predicted Effect probably damaging
Transcript: ENSMUST00000031086
AA Change: Y71C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031086
Gene: ENSMUSG00000029184
AA Change: Y71C

DomainStartEndE-ValueType
Pfam:7tm_4 29 309 3.4e-54 PFAM
Pfam:7tm_1 39 291 6.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214668
AA Change: Y71C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214938
AA Change: Y71C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217602
AA Change: Y71C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3306 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 96% (53/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,297,264 (GRCm39) S2409T probably damaging Het
Acap2 A G 16: 30,958,458 (GRCm39) F120S probably damaging Het
Akr1c6 A G 13: 4,484,477 (GRCm39) probably null Het
Bptf C A 11: 106,963,573 (GRCm39) A1874S probably damaging Het
Ccnl1 A G 3: 65,856,173 (GRCm39) V244A probably damaging Het
Cenpe T G 3: 134,953,874 (GRCm39) L1628R probably damaging Het
Cfap54 A G 10: 92,860,873 (GRCm39) probably null Het
Chchd7 T A 4: 3,943,381 (GRCm39) probably null Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crybg2 G T 4: 133,799,925 (GRCm39) V362L probably benign Het
Ddx11 T A 17: 66,456,968 (GRCm39) V791E probably damaging Het
Disp1 G A 1: 182,868,731 (GRCm39) P1230S probably benign Het
Elp5 T C 11: 69,865,928 (GRCm39) H116R probably benign Het
Epb42 T C 2: 120,860,468 (GRCm39) E177G possibly damaging Het
F13a1 T A 13: 37,127,971 (GRCm39) I336F possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcsk A G 8: 111,616,356 (GRCm39) M453T probably benign Het
Hacd2 A T 16: 34,926,748 (GRCm39) E249V probably benign Het
Hnrnpf C A 6: 117,901,829 (GRCm39) A371D possibly damaging Het
Jmjd1c A G 10: 67,065,683 (GRCm39) T1703A probably damaging Het
Kcnj13 G A 1: 87,314,622 (GRCm39) T200I possibly damaging Het
Kif1b G A 4: 149,305,077 (GRCm39) T949M possibly damaging Het
Klhl35 G A 7: 99,123,031 (GRCm39) A552T possibly damaging Het
Krt74 A G 15: 101,665,236 (GRCm39) noncoding transcript Het
Krtap14 T A 16: 88,622,597 (GRCm39) probably null Het
Lrrc45 A G 11: 120,610,365 (GRCm39) N492S probably benign Het
Lrrcc1 T A 3: 14,601,580 (GRCm39) N114K probably damaging Het
Mfsd2b T C 12: 4,915,164 (GRCm39) D375G possibly damaging Het
Mgat4a A G 1: 37,537,785 (GRCm39) L44P probably damaging Het
Mttp A C 3: 137,800,782 (GRCm39) D774E probably damaging Het
Myo5a T C 9: 75,116,521 (GRCm39) V1554A probably benign Het
Nes C T 3: 87,883,250 (GRCm39) A503V probably benign Het
Nme8 A G 13: 19,873,113 (GRCm39) probably null Het
Nr4a1 A G 15: 101,172,075 (GRCm39) D583G possibly damaging Het
Or5k14 A G 16: 58,692,797 (GRCm39) S239P probably damaging Het
Pnpla8 T A 12: 44,358,287 (GRCm39) L746I probably damaging Het
Ppp1r7 A T 1: 93,282,063 (GRCm39) I205F probably benign Het
Psd4 C A 2: 24,284,679 (GRCm39) P181Q probably damaging Het
Ripor2 G A 13: 24,890,206 (GRCm39) V694I probably benign Het
Scn10a A G 9: 119,456,268 (GRCm39) S1185P possibly damaging Het
Sec23b T A 2: 144,427,507 (GRCm39) probably null Het
Slfn2 A G 11: 82,956,154 (GRCm39) N12S possibly damaging Het
Slfn4 A G 11: 83,076,248 (GRCm39) K38R possibly damaging Het
Smarca2 G T 19: 26,618,050 (GRCm39) probably null Het
Taar4 A G 10: 23,837,172 (GRCm39) T261A possibly damaging Het
Tbl2 A G 5: 135,185,368 (GRCm39) D159G probably benign Het
Tmem120a T C 5: 135,770,892 (GRCm39) E55G probably damaging Het
Ttc21b A G 2: 66,037,794 (GRCm39) probably null Het
Vill A T 9: 118,896,628 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,487,130 (GRCm39) M511K probably damaging Het
Vmn2r81 A T 10: 79,110,516 (GRCm39) D543V probably damaging Het
Wdr95 A G 5: 149,504,135 (GRCm39) T314A probably benign Het
Zbtb8b A G 4: 129,326,982 (GRCm39) I61T probably damaging Het
Other mutations in Or12d17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01813:Or12d17 APN 17 37,777,649 (GRCm39) missense probably damaging 1.00
IGL02039:Or12d17 APN 17 37,777,340 (GRCm39) missense possibly damaging 0.49
IGL02391:Or12d17 APN 17 37,777,477 (GRCm39) missense probably damaging 1.00
IGL02730:Or12d17 APN 17 37,777,750 (GRCm39) missense probably damaging 1.00
IGL02751:Or12d17 APN 17 37,777,306 (GRCm39) missense probably damaging 0.98
IGL02891:Or12d17 APN 17 37,777,835 (GRCm39) missense probably damaging 1.00
IGL03023:Or12d17 APN 17 37,777,885 (GRCm39) missense probably benign
IGL03343:Or12d17 APN 17 37,777,300 (GRCm39) missense probably damaging 1.00
R0026:Or12d17 UTSW 17 37,777,694 (GRCm39) missense probably damaging 0.99
R0579:Or12d17 UTSW 17 37,777,238 (GRCm39) missense probably benign 0.01
R1751:Or12d17 UTSW 17 37,777,792 (GRCm39) missense probably benign 0.00
R1848:Or12d17 UTSW 17 37,777,938 (GRCm39) missense probably damaging 0.99
R4249:Or12d17 UTSW 17 37,777,715 (GRCm39) missense probably damaging 0.98
R4464:Or12d17 UTSW 17 37,777,742 (GRCm39) missense probably damaging 1.00
R4857:Or12d17 UTSW 17 37,777,714 (GRCm39) missense possibly damaging 0.80
R4947:Or12d17 UTSW 17 37,777,634 (GRCm39) missense probably damaging 1.00
R5107:Or12d17 UTSW 17 37,777,144 (GRCm39) missense probably damaging 0.97
R5526:Or12d17 UTSW 17 37,778,003 (GRCm39) missense unknown
R6147:Or12d17 UTSW 17 37,777,430 (GRCm39) missense probably benign 0.00
R6416:Or12d17 UTSW 17 37,777,971 (GRCm39) nonsense probably null
R7450:Or12d17 UTSW 17 37,777,507 (GRCm39) missense probably benign 0.00
R7487:Or12d17 UTSW 17 37,777,457 (GRCm39) missense probably damaging 0.96
R7822:Or12d17 UTSW 17 37,777,994 (GRCm39) missense probably benign 0.00
R8041:Or12d17 UTSW 17 37,777,540 (GRCm39) missense probably benign
R8051:Or12d17 UTSW 17 37,777,213 (GRCm39) missense probably damaging 1.00
R9013:Or12d17 UTSW 17 37,777,441 (GRCm39) missense probably benign 0.13
X0063:Or12d17 UTSW 17 37,777,415 (GRCm39) missense probably damaging 1.00
X0065:Or12d17 UTSW 17 37,777,209 (GRCm39) missense probably damaging 1.00
Z1176:Or12d17 UTSW 17 37,777,552 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CTGACCAGTGTTCAAAAGCTG -3'
(R):5'- AGAAGCTTGTGAACCAGGCC -3'

Sequencing Primer
(F):5'- GTGTTCAAAAGCTGCAGCC -3'
(R):5'- TGCACAACTGAGGATTCATGATAGC -3'
Posted On 2014-11-11