Incidental Mutation 'R8798:Or13d1'
ID 671354
Institutional Source Beutler Lab
Gene Symbol Or13d1
Ensembl Gene ENSMUSG00000070983
Gene Name olfactory receptor family 13 subfamily D member 1
Synonyms GA_x6K02T2N78B-7025964-7025020, Olfr270, MOR262-9
MMRRC Submission 068724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R8798 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 52970629-52971567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 52970790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 56 (H56Q)
Ref Sequence ENSEMBL: ENSMUSP00000092699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095084] [ENSMUST00000172257] [ENSMUST00000215010] [ENSMUST00000215127]
AlphaFold Q7TS19
Predicted Effect possibly damaging
Transcript: ENSMUST00000095084
AA Change: H56Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092699
Gene: ENSMUSG00000070983
AA Change: H56Q

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: H54Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133100
Gene: ENSMUSG00000070983
AA Change: H54Q

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: H56Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215127
AA Change: H56Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (74/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik G A 8: 79,937,380 (GRCm39) R176* probably null Het
4921539E11Rik A C 4: 103,123,574 (GRCm39) probably benign Het
Abcc2 A G 19: 43,797,105 (GRCm39) N492S probably benign Het
Acox1 T C 11: 116,065,183 (GRCm39) Y624C probably damaging Het
Aff4 T C 11: 53,291,335 (GRCm39) probably benign Het
Ak9 T A 10: 41,258,847 (GRCm39) D781E Het
Arfgef3 T C 10: 18,522,799 (GRCm39) D409G probably damaging Het
Arhgef18 T A 8: 3,414,645 (GRCm39) Y8N probably benign Het
Blnk A G 19: 40,950,795 (GRCm39) Y119H probably damaging Het
Brsk2 T C 7: 141,541,601 (GRCm39) L310P probably damaging Het
Cgas G A 9: 78,350,348 (GRCm39) R5C probably benign Het
Cit T A 5: 116,107,102 (GRCm39) L1078Q probably damaging Het
Cpn1 A T 19: 43,974,675 (GRCm39) V18D possibly damaging Het
Csmd3 A T 15: 47,595,382 (GRCm39) Y1115N Het
Dnah9 A C 11: 65,796,057 (GRCm39) V3589G probably damaging Het
Dpp9 T C 17: 56,506,037 (GRCm39) Y454C probably damaging Het
Eif3i A G 4: 129,490,717 (GRCm39) V67A probably benign Het
Eif6 T C 2: 155,664,886 (GRCm39) N200S probably damaging Het
Fbxo10 T C 4: 45,051,605 (GRCm39) H502R possibly damaging Het
Fcer1a A G 1: 173,053,047 (GRCm39) Y50H probably benign Het
Filip1 G A 9: 79,727,372 (GRCm39) H416Y possibly damaging Het
Frmpd1 A T 4: 45,285,424 (GRCm39) N1415I possibly damaging Het
Gdpgp1 C T 7: 79,888,725 (GRCm39) P252L probably damaging Het
Gsap T C 5: 21,476,248 (GRCm39) probably null Het
Hgs T C 11: 120,370,938 (GRCm39) V598A probably benign Het
Irf2 G T 8: 47,260,349 (GRCm39) V94L probably benign Het
Kalrn G T 16: 33,803,225 (GRCm39) H2675Q possibly damaging Het
Klhl33 C A 14: 51,130,565 (GRCm39) A50S possibly damaging Het
Klk1b11 T C 7: 43,645,372 (GRCm39) I15T probably benign Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Lrrn3 A G 12: 41,503,174 (GRCm39) M381T possibly damaging Het
Ltbr A G 6: 125,284,258 (GRCm39) Y395H probably benign Het
Ltf A G 9: 110,852,828 (GRCm39) probably benign Het
Ly75 A G 2: 60,154,270 (GRCm39) F1059S probably benign Het
Lypd6 T A 2: 50,078,774 (GRCm39) I90N possibly damaging Het
Map1a G A 2: 121,132,768 (GRCm39) V1195M probably benign Het
Mroh2b A T 15: 4,978,191 (GRCm39) I1320F probably damaging Het
Mug2 A G 6: 122,058,569 (GRCm39) T1324A probably damaging Het
Mylk G A 16: 34,719,772 (GRCm39) V562M possibly damaging Het
Myo15b G A 11: 115,754,232 (GRCm39) G911R Het
Neo1 A G 9: 58,820,449 (GRCm39) Y825H probably damaging Het
Nfat5 T G 8: 108,074,321 (GRCm39) V343G probably damaging Het
Nlrp2 A T 7: 5,330,887 (GRCm39) I503K possibly damaging Het
Or10d5 G A 9: 39,862,013 (GRCm39) T18I probably benign Het
Or5k16 A T 16: 58,736,307 (GRCm39) D232E probably benign Het
Or8d2 G A 9: 38,760,213 (GRCm39) E268K probably benign Het
Pdcl2 T C 5: 76,472,947 (GRCm39) D7G probably damaging Het
Phyh C T 2: 4,923,893 (GRCm39) R5C probably damaging Het
Prr11 A C 11: 86,996,881 (GRCm39) S28A unknown Het
Psmd13 T A 7: 140,477,663 (GRCm39) L190* probably null Het
Ptx4 A G 17: 25,343,716 (GRCm39) D322G probably damaging Het
Rnf40 T C 7: 127,188,954 (GRCm39) L109P probably damaging Het
Rrp1 T C 10: 78,245,024 (GRCm39) T102A probably damaging Het
Sema4a T G 3: 88,344,004 (GRCm39) D749A possibly damaging Het
Serpina3f A T 12: 104,183,702 (GRCm39) D188V probably benign Het
Smarca5 C A 8: 81,443,137 (GRCm39) A570S probably damaging Het
Spocd1 G C 4: 129,823,997 (GRCm39) probably null Het
Stard9 G A 2: 120,535,212 (GRCm39) G3823D probably benign Het
Suco A G 1: 161,648,004 (GRCm39) L1094S probably damaging Het
Tcf7 T C 11: 52,151,421 (GRCm39) D79G probably damaging Het
Tdrd12 A G 7: 35,228,605 (GRCm39) M39T probably damaging Het
Thnsl1 A G 2: 21,217,209 (GRCm39) N321S probably benign Het
Tmem132c T A 5: 127,437,217 (GRCm39) Y235* probably null Het
Tnfaip6 T C 2: 51,933,824 (GRCm39) F60L probably benign Het
Tnpo3 T C 6: 29,572,620 (GRCm39) I411V probably benign Het
Trio A C 15: 27,851,923 (GRCm39) V856G possibly damaging Het
Trpc2 C G 7: 101,733,767 (GRCm39) R239G probably benign Het
Ttn C T 2: 76,656,476 (GRCm39) V12502I unknown Het
Usf3 A G 16: 44,040,536 (GRCm39) D1672G probably damaging Het
Usp24 A G 4: 106,236,436 (GRCm39) N1011S probably benign Het
Vac14 A G 8: 111,446,519 (GRCm39) E756G probably benign Het
Vmn2r41 A G 7: 8,164,522 (GRCm39) L10P probably damaging Het
Xrcc5 T C 1: 72,353,337 (GRCm39) M115T probably damaging Het
Zfp1006 G A 8: 129,945,779 (GRCm39) H349Y probably damaging Het
Zfp827 G A 8: 79,916,463 (GRCm39) probably benign Het
Zmym1 A T 4: 126,943,664 (GRCm39) N241K possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- AGAACCTAAGTTTCCTTGACTCAC -3'
(R):5'- GGAGGACACACTCTGTAGAACC -3'

Sequencing Primer
(F):5'- ACATCCTTGTATGAATTCTGCTGG -3'
(R):5'- CCAAGCCAAGGGAGATAACCATTTG -3'
Posted On 2021-04-30