Incidental Mutation 'R2475:Or14j9'
ID 253362
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 040406-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R2475 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37874031-37880342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37874602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 200 (V200A)
Ref Sequence ENSEMBL: ENSMUSP00000150904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085548] [ENSMUST00000174798] [ENSMUST00000208832] [ENSMUST00000213274]
AlphaFold Q8C0S2
Predicted Effect probably benign
Transcript: ENSMUST00000085548
AA Change: V200A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082684
Gene: ENSMUSG00000051611
AA Change: V200A

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 benign
Transcript: ENSMUST00000174798
AA Change: V200A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133654
Gene: ENSMUSG00000051611
AA Change: V200A

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 benign
Transcript: ENSMUST00000208832
AA Change: V200A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213274
AA Change: V200A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (32/32)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 T A 19: 20,617,442 (GRCm39) M458K probably benign Het
Atic C T 1: 71,598,428 (GRCm39) R64C probably damaging Het
Atp7b C T 8: 22,484,792 (GRCm39) V1307M possibly damaging Het
Bbx C A 16: 50,040,882 (GRCm39) R707L probably damaging Het
Ccdc28b A T 4: 129,514,445 (GRCm39) probably null Het
Gm21136 T A 7: 38,567,258 (GRCm39) T57S probably damaging Het
Gm5862 G A 5: 26,224,490 (GRCm39) L160F probably damaging Het
Gpsm3 A G 17: 34,809,534 (GRCm39) T47A possibly damaging Het
Grip1 T C 10: 119,814,401 (GRCm39) Y311H probably benign Het
Inpp4b T A 8: 82,768,607 (GRCm39) N705K probably benign Het
Lingo1 T A 9: 56,526,910 (GRCm39) I560F probably benign Het
Man2b2 A G 5: 36,965,219 (GRCm39) V958A probably benign Het
Mavs G T 2: 131,082,370 (GRCm39) A85S probably damaging Het
Nipbl A T 15: 8,364,490 (GRCm39) C1305S probably benign Het
Phf19 C T 2: 34,785,807 (GRCm39) R554Q probably benign Het
Pramel24 T A 4: 143,453,395 (GRCm39) Y168N probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Trpm8 A G 1: 88,282,171 (GRCm39) D689G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttn A G 2: 76,703,094 (GRCm39) probably benign Het
Wrnip1 G A 13: 32,990,941 (GRCm39) R400H probably benign 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
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
R6745:Or14j9 UTSW 17 37,874,470 (GRCm39) missense probably damaging 1.00
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'- AGATATGCAAAGGCGCCTG -3'
(R):5'- GCCTCCCATTGCACTATGAG -3'

Sequencing Primer
(F):5'- TATGCAAAGGCGCCTGTAGAAAG -3'
(R):5'- TGAGGTCATCATGAGTCCCAG -3'
Posted On 2014-12-04