Incidental Mutation 'IGL00163:Or13d1'
ID 1733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or13d1
Ensembl Gene ENSMUSG00000070983
Gene Name olfactory receptor family 13 subfamily D member 1
Synonyms GA_x6K02T2N78B-7025964-7025020, Olfr270, MOR262-9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL00163
Quality Score
Status
Chromosome 4
Chromosomal Location 52970629-52971567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52971058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 146 (V146M)
Ref Sequence ENSEMBL: ENSMUSP00000150038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095084] [ENSMUST00000172257] [ENSMUST00000215010] [ENSMUST00000215127]
AlphaFold Q7TS19
Predicted Effect possibly damaging
Transcript: ENSMUST00000095084
AA Change: V146M

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092699
Gene: ENSMUSG00000070983
AA Change: V146M

DomainStartEndE-ValueType
Pfam:7tm_4 30 308 7.8e-54 PFAM
Pfam:7tm_1 41 290 1e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172257
AA Change: V144M

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133100
Gene: ENSMUSG00000070983
AA Change: V144M

DomainStartEndE-ValueType
Pfam:7tm_1 39 288 7.3e-34 PFAM
Pfam:7tm_4 137 281 1.3e-44 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215010
AA Change: V146M

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215127
AA Change: V146M

PolyPhen 2 Score 0.762 (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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik G A 4: 88,786,310 (GRCm39) Q103* probably null Het
4933406P04Rik C A 10: 20,186,970 (GRCm39) probably benign Het
Adgrg6 T C 10: 14,343,194 (GRCm39) E251G probably damaging Het
Ago2 T C 15: 72,998,302 (GRCm39) H292R probably benign Het
Akr1c6 T C 13: 4,498,977 (GRCm39) probably benign Het
Arhgap24 T A 5: 103,008,265 (GRCm39) M62K possibly damaging Het
Bicd1 A G 6: 149,451,888 (GRCm39) H834R possibly damaging Het
Ccdc77 G T 6: 120,306,045 (GRCm39) probably benign Het
Cdadc1 G T 14: 59,818,818 (GRCm39) H337N probably damaging Het
Cep192 A G 18: 68,013,871 (GRCm39) T2424A possibly damaging Het
Cep78 T C 19: 15,946,504 (GRCm39) T443A probably benign Het
Chrna1 T A 2: 73,400,986 (GRCm39) E181D probably benign Het
Dmxl1 G A 18: 49,984,534 (GRCm39) D177N probably damaging Het
Eif3h T A 15: 51,650,195 (GRCm39) I330F probably damaging Het
Fam184b T C 5: 45,697,091 (GRCm39) E691G probably benign Het
Fastkd1 T A 2: 69,537,893 (GRCm39) S230C probably benign Het
Gipc2 T C 3: 151,843,215 (GRCm39) I141V probably damaging Het
Hsd17b2 A T 8: 118,485,410 (GRCm39) D291V probably damaging Het
Itpr2 G A 6: 146,292,334 (GRCm39) A420V possibly damaging Het
Jag1 C T 2: 136,927,952 (GRCm39) probably null Het
Minar1 A T 9: 89,473,150 (GRCm39) probably benign Het
Mmp1b T A 9: 7,387,946 (GRCm39) Y16F probably benign Het
Muc4 G T 16: 32,754,090 (GRCm38) R1322M probably benign Het
Myo9b T C 8: 71,801,379 (GRCm39) I1179T probably benign Het
Nos1ap A G 1: 170,342,175 (GRCm39) probably benign Het
Npc1l1 A T 11: 6,174,199 (GRCm39) V702E probably damaging Het
Or1j21 A G 2: 36,684,012 (GRCm39) I255V probably benign Het
Or2ag17 T A 7: 106,389,796 (GRCm39) R137S probably benign Het
Or2y10 A C 11: 49,454,747 (GRCm39) probably benign Het
Or4c31 A T 2: 88,291,696 (GRCm39) Y4F probably benign Het
Or4f7 A C 2: 111,644,126 (GRCm39) probably benign Het
Osmr A T 15: 6,873,926 (GRCm39) L157* probably null Het
Pdzph1 T C 17: 59,281,791 (GRCm39) T164A possibly damaging Het
Ptn T C 6: 36,720,424 (GRCm39) K43E probably benign Het
Rbm45 T C 2: 76,209,051 (GRCm39) V340A probably damaging Het
Rnf5 C T 17: 34,821,083 (GRCm39) G83E probably damaging Het
Scin G T 12: 40,126,971 (GRCm39) Q459K probably benign Het
Serpina5 C A 12: 104,071,479 (GRCm39) A362D probably damaging Het
Tex47 T A 5: 7,355,468 (GRCm39) Y216* probably null Het
Tll1 A T 8: 64,469,170 (GRCm39) H984Q probably benign Het
Tmem259 A G 10: 79,815,568 (GRCm39) V81A probably benign Het
Tns3 A T 11: 8,401,066 (GRCm39) S1077R probably benign Het
Trgv3 G A 13: 19,427,381 (GRCm39) S88N probably benign Het
Ttc17 A G 2: 94,153,428 (GRCm39) probably benign Het
Tubgcp2 T C 7: 139,610,935 (GRCm39) T149A possibly damaging Het
Ulk1 G A 5: 110,935,738 (GRCm39) A25V probably damaging Het
Vps13d T C 4: 144,895,110 (GRCm39) E378G probably damaging Het
Vsig10 A G 5: 117,476,479 (GRCm39) N311S probably benign Het
Zfp511 T C 7: 139,617,429 (GRCm39) Y144H possibly damaging Het
Other mutations in Or13d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01888:Or13d1 APN 4 52,970,974 (GRCm39) missense probably damaging 1.00
IGL02160:Or13d1 APN 4 52,971,194 (GRCm39) missense probably damaging 1.00
IGL02390:Or13d1 APN 4 52,971,263 (GRCm39) missense probably damaging 1.00
R0148:Or13d1 UTSW 4 52,971,232 (GRCm39) missense probably benign 0.01
R4967:Or13d1 UTSW 4 52,970,960 (GRCm39) missense possibly damaging 0.85
R5721:Or13d1 UTSW 4 52,971,068 (GRCm39) missense probably damaging 1.00
R7089:Or13d1 UTSW 4 52,971,470 (GRCm39) missense probably damaging 1.00
R7151:Or13d1 UTSW 4 52,970,665 (GRCm39) missense probably benign 0.04
R7448:Or13d1 UTSW 4 52,971,207 (GRCm39) missense probably damaging 1.00
R7772:Or13d1 UTSW 4 52,970,713 (GRCm39) missense probably damaging 1.00
R8058:Or13d1 UTSW 4 52,971,106 (GRCm39) missense probably benign 0.11
R8150:Or13d1 UTSW 4 52,970,788 (GRCm39) missense probably damaging 0.97
R8318:Or13d1 UTSW 4 52,971,104 (GRCm39) missense probably benign 0.00
R8798:Or13d1 UTSW 4 52,970,790 (GRCm39) missense possibly damaging 0.95
R9157:Or13d1 UTSW 4 52,971,419 (GRCm39) missense possibly damaging 0.73
X0027:Or13d1 UTSW 4 52,971,241 (GRCm39) missense probably damaging 1.00
Posted On 2011-07-12