Incidental Mutation 'IGL01293:Or14j2'
ID 72966
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14j2
Ensembl Gene ENSMUSG00000092292
Gene Name olfactory receptor family 14 subfamily J member 2
Synonyms Olfr113, GA_x6K02T2PSCP-2034880-2033942, MOR218-9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL01293
Quality Score
Status
Chromosome 17
Chromosomal Location 37885374-37886312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37886308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 2 (I2T)
Ref Sequence ENSEMBL: ENSMUSP00000149739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174139] [ENSMUST00000216181]
AlphaFold Q8VEU4
Predicted Effect probably benign
Transcript: ENSMUST00000174139
AA Change: I2T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: I2T

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.7e-46 PFAM
Pfam:7TM_GPCR_Srx 32 307 3.4e-7 PFAM
Pfam:7TM_GPCR_Srsx 35 305 4.2e-6 PFAM
Pfam:7tm_1 41 290 2.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216181
AA Change: I2T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Or14j2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Or14j2 APN 17 37,885,808 (GRCm39) missense probably damaging 0.98
IGL01061:Or14j2 APN 17 37,885,795 (GRCm39) missense possibly damaging 0.47
IGL01370:Or14j2 APN 17 37,885,412 (GRCm39) splice site probably null
IGL01535:Or14j2 APN 17 37,885,679 (GRCm39) missense possibly damaging 0.90
IGL02134:Or14j2 APN 17 37,886,249 (GRCm39) missense probably benign 0.01
IGL02536:Or14j2 APN 17 37,885,817 (GRCm39) missense probably damaging 1.00
IGL02640:Or14j2 APN 17 37,885,912 (GRCm39) missense possibly damaging 0.73
IGL02652:Or14j2 APN 17 37,885,836 (GRCm39) nonsense probably null
IGL02963:Or14j2 APN 17 37,885,745 (GRCm39) missense probably benign 0.09
R0104:Or14j2 UTSW 17 37,885,817 (GRCm39) missense probably damaging 1.00
R1662:Or14j2 UTSW 17 37,886,164 (GRCm39) missense probably damaging 1.00
R2904:Or14j2 UTSW 17 37,885,705 (GRCm39) missense possibly damaging 0.95
R5129:Or14j2 UTSW 17 37,886,071 (GRCm39) missense probably damaging 1.00
R5197:Or14j2 UTSW 17 37,886,111 (GRCm39) missense probably benign 0.00
R5347:Or14j2 UTSW 17 37,885,618 (GRCm39) missense probably damaging 0.97
R6044:Or14j2 UTSW 17 37,885,426 (GRCm39) missense probably damaging 0.96
R7048:Or14j2 UTSW 17 37,886,114 (GRCm39) missense probably damaging 1.00
R7064:Or14j2 UTSW 17 37,885,634 (GRCm39) missense probably damaging 1.00
R8123:Or14j2 UTSW 17 37,885,653 (GRCm39) missense probably benign 0.05
R8205:Or14j2 UTSW 17 37,885,892 (GRCm39) missense probably damaging 1.00
R8710:Or14j2 UTSW 17 37,885,540 (GRCm39) missense probably benign 0.00
R8989:Or14j2 UTSW 17 37,885,542 (GRCm39) missense probably benign 0.01
R9323:Or14j2 UTSW 17 37,886,135 (GRCm39) missense probably damaging 1.00
R9439:Or14j2 UTSW 17 37,885,825 (GRCm39) missense probably benign 0.00
X0062:Or14j2 UTSW 17 37,885,388 (GRCm39) missense probably benign 0.01
Posted On 2013-10-07