Incidental Mutation 'IGL02390:Or13d1'
ID 294218
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: 0.082) question?
Stock # IGL02390
Quality Score
Status
Chromosome 4
Chromosomal Location 52970629-52971567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52971263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 214 (I214N)
Ref Sequence ENSEMBL: ENSMUSP00000150038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095084] [ENSMUST00000172257] [ENSMUST00000215010] [ENSMUST00000215127]
AlphaFold Q7TS19
Predicted Effect probably damaging
Transcript: ENSMUST00000095084
AA Change: I214N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092699
Gene: ENSMUSG00000070983
AA Change: I214N

DomainStartEndE-ValueType
Pfam:7tm_4 30 308 7.8e-54 PFAM
Pfam:7tm_1 41 290 1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172257
AA Change: I212N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133100
Gene: ENSMUSG00000070983
AA Change: I212N

DomainStartEndE-ValueType
Pfam:7tm_1 39 288 7.3e-34 PFAM
Pfam:7tm_4 137 281 1.3e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215010
AA Change: I214N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215127
AA Change: I214N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,187,377 (GRCm39) K894R probably benign Het
Ampd1 C T 3: 102,986,357 (GRCm39) A12V probably benign Het
Ano4 T A 10: 88,860,843 (GRCm39) D345V possibly damaging Het
Arl6 A G 16: 59,441,580 (GRCm39) probably null Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atrn C T 2: 130,862,897 (GRCm39) P1326S possibly damaging Het
Btbd9 A G 17: 30,743,788 (GRCm39) V238A probably benign Het
Cdh16 T C 8: 105,348,606 (GRCm39) T141A probably damaging Het
Cetn4 T C 3: 37,363,305 (GRCm39) D102G probably damaging Het
Col5a3 T A 9: 20,688,292 (GRCm39) N1256I unknown Het
Cyfip2 A G 11: 46,112,225 (GRCm39) F993L possibly damaging Het
Dcaf6 T A 1: 165,250,490 (GRCm39) I125F possibly damaging Het
Dclk2 A C 3: 86,731,990 (GRCm39) S336A probably damaging Het
Dnah8 G A 17: 31,049,819 (GRCm39) V4327I probably benign Het
Ebna1bp2 T C 4: 118,478,694 (GRCm39) V59A possibly damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
F2 A T 2: 91,463,332 (GRCm39) V184D possibly damaging Het
Fbxo38 C T 18: 62,666,660 (GRCm39) R171H probably damaging Het
Fhod3 A C 18: 25,199,332 (GRCm39) S668R probably benign Het
Fkbp10 T A 11: 100,306,843 (GRCm39) F78L probably damaging Het
Garre1 T C 7: 33,947,643 (GRCm39) D455G probably damaging Het
Hyi C T 4: 118,219,810 (GRCm39) R254C probably benign Het
Igfl3 A T 7: 17,915,659 (GRCm39) probably benign Het
Lgals9 T A 11: 78,854,361 (GRCm39) I308F probably damaging Het
Lrrc8a C A 2: 30,146,713 (GRCm39) P509Q probably damaging Het
Mapkap1 T A 2: 34,322,101 (GRCm39) N6K probably damaging Het
Mdh1b T A 1: 63,760,716 (GRCm39) H115L probably benign Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mrpl15 T C 1: 4,855,837 (GRCm39) S22G probably benign Het
Nf1 T C 11: 79,456,761 (GRCm39) Y616H possibly damaging Het
Nf1 T A 11: 79,302,502 (GRCm39) probably benign Het
Olig1 C A 16: 91,067,041 (GRCm39) Q93K probably damaging Het
Or1o1 A T 17: 37,716,986 (GRCm39) L182F probably benign Het
Or4f59 A T 2: 111,873,056 (GRCm39) V107E possibly damaging Het
Otoa C A 7: 120,730,590 (GRCm39) L597M possibly damaging Het
Parp16 C T 9: 65,141,051 (GRCm39) P207L possibly damaging Het
Pbrm1 T A 14: 30,754,467 (GRCm39) D162E probably benign Het
Pramel21 T A 4: 143,341,895 (GRCm39) M108K probably benign Het
Prdm10 A G 9: 31,264,685 (GRCm39) I658V possibly damaging Het
Psg21 A T 7: 18,386,556 (GRCm39) H143Q probably benign Het
Rfx4 C T 10: 84,676,014 (GRCm39) R28W probably damaging Het
Sart1 T G 19: 5,430,489 (GRCm39) M753L possibly damaging Het
Smcr8 T A 11: 60,670,548 (GRCm39) D565E probably benign Het
Smyd4 T A 11: 75,278,332 (GRCm39) probably null Het
Sned1 T C 1: 93,189,386 (GRCm39) V274A probably benign Het
Tbc1d13 T C 2: 30,027,399 (GRCm39) probably benign Het
Tox A T 4: 6,697,534 (GRCm39) I423N possibly damaging Het
Tsc2 A T 17: 24,819,427 (GRCm39) V1232D probably damaging Het
Uckl1 C T 2: 181,216,212 (GRCm39) V178I possibly damaging Het
Usp13 T A 3: 32,985,865 (GRCm39) Y175* probably null Het
Vwde A G 6: 13,190,684 (GRCm39) V469A probably damaging Het
Other mutations in Or13d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Or13d1 APN 4 52,971,058 (GRCm39) missense possibly damaging 0.76
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
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 2015-04-16