Incidental Mutation 'R6745:Or14j9'
ID 530553
Institutional Source Beutler Lab
Gene Symbol Or14j9
Ensembl Gene ENSMUSG00000051611
Gene Name olfactory receptor family 14 subfamily J member 9
Synonyms GA_x6K02T2PSCP-2023769-2022807, Olfr112, MOR218-4, 4930580F03Rik
MMRRC Submission 044862-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6745 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 37874031-37880342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37874470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 244 (H244L)
Ref Sequence ENSEMBL: ENSMUSP00000150904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085548] [ENSMUST00000174798] [ENSMUST00000208832] [ENSMUST00000213274]
AlphaFold Q8C0S2
Predicted Effect probably damaging
Transcript: ENSMUST00000085548
AA Change: H244L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082684
Gene: ENSMUSG00000051611
AA Change: H244L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.3e-45 PFAM
Pfam:7TM_GPCR_Srsx 35 305 5.3e-7 PFAM
Pfam:7tm_1 41 290 8.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173676
Predicted Effect probably damaging
Transcript: ENSMUST00000174798
AA Change: H244L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133654
Gene: ENSMUSG00000051611
AA Change: H244L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 296 3.2e-7 PFAM
Pfam:7tm_1 41 290 8.2e-30 PFAM
Pfam:7tm_4 139 283 1.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208832
AA Change: H244L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213274
AA Change: H244L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7437 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb G T 10: 10,265,941 (GRCm39) T1040K probably damaging Het
Adgrf3 A G 5: 30,408,601 (GRCm39) V59A probably benign Het
Ankk1 G T 9: 49,327,480 (GRCm39) H566Q probably benign Het
Avil A C 10: 126,849,988 (GRCm39) D613A probably benign Het
Bbs9 A G 9: 22,582,132 (GRCm39) N613S probably benign Het
Chd1 A G 17: 17,607,429 (GRCm39) T326A probably benign Het
Clasp2 A T 9: 113,704,338 (GRCm39) R558* probably null Het
Cmbl A G 15: 31,589,933 (GRCm39) D221G possibly damaging Het
Col3a1 G T 1: 45,377,782 (GRCm39) probably benign Het
Creb5 A T 6: 53,581,517 (GRCm39) M172L probably benign Het
Crybg3 A G 16: 59,372,607 (GRCm39) V2291A possibly damaging Het
Cyp2g1 T G 7: 26,513,604 (GRCm39) V181G probably damaging Het
Dclk1 T A 3: 55,385,229 (GRCm39) S40T probably damaging Het
Dnah10 G T 5: 124,885,876 (GRCm39) M3053I probably damaging Het
Dnah12 T A 14: 26,428,383 (GRCm39) I268K probably damaging Het
Dock2 C G 11: 34,596,669 (GRCm39) D396H probably damaging Het
Dock2 T A 11: 34,596,670 (GRCm39) K395N probably damaging Het
Gpbp1 G A 13: 111,589,919 (GRCm39) R59C probably benign Het
Ifi47 T G 11: 48,986,329 (GRCm39) I32S probably benign Het
Ighg3 A G 12: 113,323,890 (GRCm39) V166A unknown Het
Katnip T C 7: 125,369,822 (GRCm39) S137P probably benign Het
Kdm5d T A Y: 927,112 (GRCm39) C617S probably benign Homo
Kif20b T G 19: 34,906,276 (GRCm39) S55A possibly damaging Het
Klhl1 C T 14: 96,517,438 (GRCm39) probably null Het
Kndc1 C T 7: 139,500,892 (GRCm39) T727I probably benign Het
Lrrk1 A T 7: 65,922,749 (GRCm39) I298N probably damaging Het
Ly75 C A 2: 60,138,523 (GRCm39) R1448L probably damaging Het
Mup4 C T 4: 59,960,091 (GRCm39) V58M possibly damaging Het
Nr2c1 T C 10: 94,026,526 (GRCm39) F467S probably damaging Het
Pla2g4a G T 1: 149,761,981 (GRCm39) Q151K probably benign Het
Pom121l2 A T 13: 22,167,868 (GRCm39) Q713L probably benign Het
Pomgnt1 T A 4: 116,011,080 (GRCm39) S210T probably damaging Het
Prb1a T C 6: 132,186,383 (GRCm39) probably null Het
Pyroxd2 T C 19: 42,735,799 (GRCm39) D101G probably damaging Het
Ranbp3 A G 17: 57,016,308 (GRCm39) D359G probably benign Het
Rgsl1 T A 1: 153,698,063 (GRCm39) I531F probably benign Het
Serpina1b T C 12: 103,696,614 (GRCm39) N265S possibly damaging Het
Slc51b T C 9: 65,320,212 (GRCm39) E85G possibly damaging Het
Stk32c T A 7: 138,702,809 (GRCm39) R195W probably damaging Het
Uggt2 T C 14: 119,280,022 (GRCm39) T819A possibly damaging Het
Ugt1a9 A T 1: 87,998,898 (GRCm39) E116V probably benign Het
Zswim5 C G 4: 116,832,401 (GRCm39) P543A probably damaging Het
Other mutations in Or14j9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02270:Or14j9 APN 17 37,874,471 (GRCm39) missense possibly damaging 0.94
IGL02900:Or14j9 APN 17 37,874,740 (GRCm39) missense possibly damaging 0.72
IGL03352:Or14j9 APN 17 37,874,681 (GRCm39) missense probably damaging 1.00
R0945:Or14j9 UTSW 17 37,874,278 (GRCm39) missense probably benign 0.00
R2475:Or14j9 UTSW 17 37,874,602 (GRCm39) missense probably benign
R4459:Or14j9 UTSW 17 37,874,365 (GRCm39) missense probably damaging 0.99
R4601:Or14j9 UTSW 17 37,875,076 (GRCm39) missense probably damaging 1.00
R5126:Or14j9 UTSW 17 37,874,719 (GRCm39) missense probably benign 0.22
R7806:Or14j9 UTSW 17 37,875,112 (GRCm39) missense probably damaging 1.00
R9309:Or14j9 UTSW 17 37,875,049 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTCAACAGTAACTTCCTTACAAC -3'
(R):5'- TGGGGACAAAATTATTCACCAGTTC -3'

Sequencing Primer
(F):5'- ACTTCCTTACAACATTCTTTATCGTC -3'
(R):5'- GATGTCCCCCAGTTGCTCAAG -3'
Posted On 2018-08-01