Incidental Mutation 'IGL02640:Or14j2'
ID 301682
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 # IGL02640
Quality Score
Status
Chromosome 17
Chromosomal Location 37885374-37886312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37885912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 134 (V134A)
Ref Sequence ENSEMBL: ENSMUSP00000149739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174139] [ENSMUST00000216181]
AlphaFold Q8VEU4
Predicted Effect possibly damaging
Transcript: ENSMUST00000174139
AA Change: V134A

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: V134A

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 possibly damaging
Transcript: ENSMUST00000216181
AA Change: V134A

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh3 C A 2: 93,826,706 (GRCm39) R165L possibly damaging Het
Arap3 A G 18: 38,120,855 (GRCm39) V730A possibly damaging Het
Arcn1 A C 9: 44,662,614 (GRCm39) I344S probably damaging Het
Ascc3 A C 10: 50,643,470 (GRCm39) D1807A possibly damaging Het
Atp2b3 A G X: 72,585,811 (GRCm39) S615G probably benign Het
Ccdc40 A G 11: 119,128,904 (GRCm39) N450S probably benign Het
Cep41 T C 6: 30,658,867 (GRCm39) E160G probably benign Het
Cxxc1 T C 18: 74,354,254 (GRCm39) L654P probably damaging Het
Dusp29 T A 14: 21,753,123 (GRCm39) T8S probably damaging Het
Gnb4 C T 3: 32,645,374 (GRCm39) A106T probably benign Het
Gosr1 T C 11: 76,645,603 (GRCm39) N59S probably benign Het
Itgav A G 2: 83,622,283 (GRCm39) T622A probably benign Het
Lamc2 A G 1: 153,027,803 (GRCm39) I207T probably damaging Het
Lce1c C A 3: 92,587,845 (GRCm39) probably benign Het
Mcm3ap G T 10: 76,342,255 (GRCm39) D1583Y probably damaging Het
Mphosph9 A T 5: 124,453,563 (GRCm39) F220I possibly damaging Het
Or2ag16 A T 7: 106,352,559 (GRCm39) F12Y probably damaging Het
Plcb1 T G 2: 135,062,779 (GRCm39) probably benign Het
Polr3c G A 3: 96,624,002 (GRCm39) T312M probably damaging Het
Ppp4r3c2 T C X: 88,796,210 (GRCm39) V14A probably benign Het
Ptpn12 G T 5: 21,224,244 (GRCm39) D116E probably damaging Het
Ptprb A G 10: 116,174,569 (GRCm39) D747G probably damaging Het
Scn9a A G 2: 66,366,440 (GRCm39) probably null Het
Slit3 T C 11: 35,591,172 (GRCm39) V1328A probably benign Het
Sucla2 C A 14: 73,819,246 (GRCm39) S264Y probably benign Het
Tagln3 T C 16: 45,544,596 (GRCm39) D25G probably benign Het
Tbck A G 3: 132,480,247 (GRCm39) T709A probably benign Het
Tead1 C T 7: 112,460,663 (GRCm39) A189V probably benign Het
Tmem234 A G 4: 129,494,896 (GRCm39) Q46R probably damaging Het
Trpm1 T A 7: 63,868,881 (GRCm39) L395Q probably damaging Het
Tti2 T A 8: 31,645,942 (GRCm39) W419R probably damaging Het
Vmn2r3 A T 3: 64,194,816 (GRCm39) M34K probably benign Het
Vps13c G T 9: 67,793,530 (GRCm39) probably benign Het
Zfp521 A T 18: 13,977,987 (GRCm39) Y809N probably benign 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
IGL01293:Or14j2 APN 17 37,886,308 (GRCm39) missense probably benign
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
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 2015-04-16