Incidental Mutation 'H8786:Or12k7'
ID 44423
Institutional Source Beutler Lab
Gene Symbol Or12k7
Ensembl Gene ENSMUSG00000083361
Gene Name olfactory receptor family 12 subfamily K member 7
Synonyms MOR159-1, Olfr360, GA_x6K02T2NLDC-33760081-33761034
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # H8786 (G3) of strain 617
Quality Score 207
Status Not validated
Chromosome 2
Chromosomal Location 36958319-36959272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36958341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 8 (E8G)
Ref Sequence ENSEMBL: ENSMUSP00000149581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120704] [ENSMUST00000216706]
AlphaFold Q8VFP3
Predicted Effect probably benign
Transcript: ENSMUST00000120505
AA Change: E8G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112456
Gene: ENSMUSG00000083361
AA Change: E8G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 206 6e-7 PFAM
Pfam:7tm_1 41 289 1.1e-25 PFAM
Pfam:7tm_4 139 282 6.6e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120704
AA Change: E8G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114121
Gene: ENSMUSG00000083361
AA Change: E8G

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2e-45 PFAM
Pfam:7TM_GPCR_Srsx 35 206 6e-7 PFAM
Pfam:7tm_1 41 289 5.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216706
AA Change: E8G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,498,905 (GRCm39) Y363H probably benign Het
4933402N03Rik T A 7: 130,740,906 (GRCm39) R103S probably damaging Het
Aars1 A G 8: 111,772,187 (GRCm39) D459G probably benign Het
Adam25 A T 8: 41,207,261 (GRCm39) M176L probably benign Het
Adcy5 A G 16: 35,087,551 (GRCm39) I471V probably damaging Het
Ano8 A T 8: 71,931,388 (GRCm39) probably benign Het
Arhgef28 T A 13: 98,083,461 (GRCm39) Q1136L probably damaging Het
Atp13a3 A T 16: 30,178,543 (GRCm39) C164* probably null Het
Avl9 G A 6: 56,734,295 (GRCm39) A625T probably damaging Het
Avpr1a A T 10: 122,285,373 (GRCm39) M222L probably benign Het
B4galnt4 A T 7: 140,651,235 (GRCm39) M939L probably damaging Het
B4galt6 A G 18: 20,822,001 (GRCm39) F331S probably benign Het
C2cd2 G T 16: 97,680,840 (GRCm39) Q325K possibly damaging Het
Caml T G 13: 55,776,409 (GRCm39) L216R probably damaging Het
Cd200r4 A G 16: 44,653,736 (GRCm39) T132A possibly damaging Het
Ces1h A C 8: 94,089,550 (GRCm39) V283G probably damaging Het
Clptm1 A T 7: 19,369,629 (GRCm39) V427D possibly damaging Het
Drd1 T A 13: 54,207,122 (GRCm39) N357I possibly damaging Het
Foxq1 C G 13: 31,743,441 (GRCm39) S181W probably damaging Het
Gfra2 C T 14: 71,215,818 (GRCm39) T169M possibly damaging Het
Gm42542 T C 6: 68,872,634 (GRCm39) probably null Het
Hoxa13 CGG CGNGG 6: 52,260,636 (GRCm38) probably null Het
Hsd11b1 C A 1: 192,922,560 (GRCm39) A166S probably benign Het
Kcnab3 T A 11: 69,219,093 (GRCm39) F101L probably damaging Het
Klf6 C A 13: 5,911,790 (GRCm39) H51Q probably damaging Het
Krtap4-8 G A 11: 99,670,898 (GRCm39) P191L unknown Het
Lrrk2 T A 15: 91,557,561 (GRCm39) N26K probably benign Het
Mrgprd T C 7: 144,876,004 (GRCm39) S292P probably benign Het
Ms4a8a A G 19: 11,053,725 (GRCm39) I127T possibly damaging Het
Myo7a T G 7: 97,744,985 (GRCm39) N280T possibly damaging Het
Nipal4 A G 11: 46,041,304 (GRCm39) F297S probably damaging Het
Npas1 A G 7: 16,195,275 (GRCm39) I351T possibly damaging Het
Or4a72 C A 2: 89,405,623 (GRCm39) G149V probably damaging Het
Or9e1 A T 11: 58,732,146 (GRCm39) I69F probably benign Het
Parp11 A G 6: 127,448,598 (GRCm39) T72A probably damaging Het
Pik3c3 T C 18: 30,427,396 (GRCm39) V300A probably damaging Het
Pik3cb T C 9: 98,928,612 (GRCm39) E881G possibly damaging Het
Polr2h T A 16: 20,539,281 (GRCm39) L57* probably null Het
Rela T A 19: 5,697,046 (GRCm39) S418T probably benign Het
Rptn A G 3: 93,305,180 (GRCm39) T838A possibly damaging Het
Sez6l2 T A 7: 126,560,955 (GRCm39) N413K possibly damaging Het
Slc6a2 A G 8: 93,721,268 (GRCm39) I466V probably benign Het
Slco4c1 A T 1: 96,768,876 (GRCm39) C329S probably damaging Het
Sppl2c A G 11: 104,077,691 (GRCm39) M164V probably benign Het
Spta1 G A 1: 174,007,405 (GRCm39) V212M probably damaging Het
Sqor A C 2: 122,634,288 (GRCm39) I142L probably benign Het
Suco T C 1: 161,680,420 (GRCm39) E317G probably damaging Het
Tlk2 T A 11: 105,145,805 (GRCm39) I337N possibly damaging Het
Tln1 A T 4: 43,544,589 (GRCm39) N1113K probably damaging Het
Tmc2 A G 2: 130,068,182 (GRCm39) Y234C probably damaging Het
Tmem167 A C 13: 90,246,585 (GRCm39) K36N probably damaging Het
Trim72 T C 7: 127,603,963 (GRCm39) L103P probably damaging Het
Tut4 T C 4: 108,408,012 (GRCm39) probably null Het
Urb1 T A 16: 90,566,357 (GRCm39) M1477L probably benign Het
Vwa2 T A 19: 56,898,164 (GRCm39) M721K possibly damaging Het
Zfp143 T G 7: 109,693,575 (GRCm39) D636E probably damaging Het
Other mutations in Or12k7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02394:Or12k7 APN 2 36,958,497 (GRCm39) missense probably damaging 1.00
R4551:Or12k7 UTSW 2 36,958,355 (GRCm39) missense probably benign 0.03
R4896:Or12k7 UTSW 2 36,958,422 (GRCm39) missense probably damaging 1.00
R5004:Or12k7 UTSW 2 36,958,422 (GRCm39) missense probably damaging 1.00
R5828:Or12k7 UTSW 2 36,959,001 (GRCm39) missense probably benign 0.00
R6173:Or12k7 UTSW 2 36,959,091 (GRCm39) missense possibly damaging 0.78
R6802:Or12k7 UTSW 2 36,958,427 (GRCm39) missense probably benign
R6859:Or12k7 UTSW 2 36,958,794 (GRCm39) missense probably damaging 0.98
R7171:Or12k7 UTSW 2 36,958,400 (GRCm39) missense possibly damaging 0.91
R7712:Or12k7 UTSW 2 36,958,916 (GRCm39) missense probably damaging 1.00
R7798:Or12k7 UTSW 2 36,959,186 (GRCm39) missense probably damaging 1.00
R8492:Or12k7 UTSW 2 36,958,695 (GRCm39) missense probably damaging 1.00
R8815:Or12k7 UTSW 2 36,958,429 (GRCm39) missense probably benign
R8870:Or12k7 UTSW 2 36,958,982 (GRCm39) missense probably benign
R9115:Or12k7 UTSW 2 36,959,052 (GRCm39) missense probably damaging 0.96
T0722:Or12k7 UTSW 2 36,958,449 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGAGCCCTACATGCTGGAGATTC -3'
(R):5'- TCCATGCTGCCCACTGCCATAAAG -3'

Sequencing Primer
(F):5'- ggaaaggggatagcatttgaac -3'
(R):5'- CAACGATTATAGGAAATGCTCCG -3'
Posted On 2013-06-11