Incidental Mutation 'R9396:Or1d2'
ID 710845
Institutional Source Beutler Lab
Gene Symbol Or1d2
Ensembl Gene ENSMUSG00000058275
Gene Name olfactory receptor family 1 subfamily D member 2
Synonyms Olfr412, GA_x6K02T2P1NL-4500587-4501525, MOR127-5P
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # R9396 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 74255497-74256435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74256089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 198 (M198K)
Ref Sequence ENSEMBL: ENSMUSP00000149922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077794] [ENSMUST00000216362]
AlphaFold Q7TRW7
Predicted Effect probably benign
Transcript: ENSMUST00000077794
AA Change: M198K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000076967
Gene: ENSMUSG00000058275
AA Change: M198K

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.7e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 172 1.8e-8 PFAM
Pfam:7tm_1 41 289 3.8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216362
AA Change: M198K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (56/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T A 17: 85,000,282 (GRCm39) F281I probably damaging Het
Acad8 A G 9: 26,887,041 (GRCm39) M402T probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Apol7a T C 15: 77,273,925 (GRCm39) E179G possibly damaging Het
Asmt A G X: 169,110,141 (GRCm39) T217A probably benign Het
Cadm2 T C 16: 66,544,102 (GRCm39) Y318C probably damaging Het
Cckar G A 5: 53,864,623 (GRCm39) T26M probably damaging Het
Cd300ld G A 11: 114,878,230 (GRCm39) T94I probably damaging Het
Cdk5rap2 A G 4: 70,172,903 (GRCm39) Y1390H possibly damaging Het
Cdk5rap2 C T 4: 70,182,895 (GRCm39) S1268N probably damaging Het
Csrnp3 C T 2: 65,832,841 (GRCm39) R127C probably damaging Het
Dsc2 T A 18: 20,174,773 (GRCm39) R501* probably null Het
Dusp2 C T 2: 127,179,638 (GRCm39) R294C probably damaging Het
Edrf1 A G 7: 133,261,838 (GRCm39) K878E possibly damaging Het
Evc T C 5: 37,476,434 (GRCm39) T372A possibly damaging Het
Fcgr1 T A 3: 96,194,390 (GRCm39) K166* probably null Het
Fstl4 C A 11: 52,664,778 (GRCm39) P36Q probably benign Het
Gas2l2 A T 11: 83,313,659 (GRCm39) I551N probably benign Het
Hc G T 2: 34,927,615 (GRCm39) S333* probably null Het
Ibsp A G 5: 104,458,297 (GRCm39) Y278C probably damaging Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Kcnc3 T C 7: 44,240,937 (GRCm39) S210P possibly damaging Het
Klhl3 T G 13: 58,161,662 (GRCm39) T531P probably damaging Het
Mapt C A 11: 104,189,555 (GRCm39) P191Q possibly damaging Het
Myh9 T C 15: 77,647,496 (GRCm39) T1840A probably benign Het
Myof A T 19: 37,923,294 (GRCm39) C1320S probably damaging Het
Myom3 G T 4: 135,513,199 (GRCm39) V626L probably benign Het
Nalf2 C T X: 98,889,097 (GRCm39) R321W probably damaging Het
Ndor1 A G 2: 25,138,921 (GRCm39) L321P probably benign Het
Nhsl1 T A 10: 18,399,749 (GRCm39) M291K probably damaging Het
Nubp2 C T 17: 25,103,476 (GRCm39) V134I probably benign Het
Nuf2 T C 1: 169,337,917 (GRCm39) I287V probably benign Het
Or2n1 T A 17: 38,486,421 (GRCm39) W149R probably damaging Het
Or4k42 A G 2: 111,319,864 (GRCm39) L213P probably benign Het
Or51i2 A G 7: 103,689,720 (GRCm39) N239S probably benign Het
Or55b4 A C 7: 102,134,180 (GRCm39) V49G possibly damaging Het
Or5k3 G A 16: 58,969,302 (GRCm39) V30M probably damaging Het
Or8k28 A T 2: 86,285,845 (GRCm39) C257S probably benign Het
Pals1 G T 12: 78,871,521 (GRCm39) R367L possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp1r12a A G 10: 108,100,571 (GRCm39) E863G probably damaging Het
Pskh1 C T 8: 106,640,091 (GRCm39) T257M possibly damaging Het
Rasgef1b T C 5: 99,377,188 (GRCm39) I334V probably benign Het
Rnf180 T A 13: 105,318,027 (GRCm39) K462* probably null Het
Sin3a A G 9: 57,008,445 (GRCm39) D455G probably benign Het
Slc15a4 A G 5: 127,694,463 (GRCm39) probably benign Het
Slc2a13 T C 15: 91,227,915 (GRCm39) T426A probably benign Het
Smarca5 T C 8: 81,463,358 (GRCm39) K70R probably benign Het
Smg1 A G 7: 117,807,303 (GRCm39) V182A unknown Het
Stim1 G A 7: 102,064,592 (GRCm39) V221I possibly damaging Het
Tbx18 T C 9: 87,609,432 (GRCm39) D201G probably damaging Het
Tcf25 A G 8: 124,127,831 (GRCm39) E630G probably benign Het
Tm7sf3 T C 6: 146,523,472 (GRCm39) N135S possibly damaging Het
Togaram1 A G 12: 65,014,429 (GRCm39) N560S probably damaging Het
Unc13d A G 11: 115,966,529 (GRCm39) probably null Het
Zfp445 A C 9: 122,681,581 (GRCm39) S787A probably benign Het
Zfp949 T C 9: 88,449,260 (GRCm39) W22R probably damaging Het
Other mutations in Or1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Or1d2 APN 11 74,255,738 (GRCm39) missense possibly damaging 0.82
IGL01395:Or1d2 APN 11 74,255,713 (GRCm39) missense probably damaging 1.00
IGL01418:Or1d2 APN 11 74,255,810 (GRCm39) missense possibly damaging 0.85
IGL01645:Or1d2 APN 11 74,256,359 (GRCm39) missense possibly damaging 0.95
IGL02421:Or1d2 APN 11 74,256,017 (GRCm39) missense probably damaging 1.00
IGL02424:Or1d2 APN 11 74,256,299 (GRCm39) missense probably benign 0.09
R0206:Or1d2 UTSW 11 74,255,968 (GRCm39) missense probably benign 0.00
R0206:Or1d2 UTSW 11 74,255,968 (GRCm39) missense probably benign 0.00
R0278:Or1d2 UTSW 11 74,256,028 (GRCm39) missense probably damaging 1.00
R0698:Or1d2 UTSW 11 74,255,968 (GRCm39) missense probably benign 0.00
R1424:Or1d2 UTSW 11 74,255,780 (GRCm39) missense probably benign 0.05
R1549:Or1d2 UTSW 11 74,256,076 (GRCm39) missense probably benign 0.00
R1659:Or1d2 UTSW 11 74,255,759 (GRCm39) missense probably benign 0.01
R1755:Or1d2 UTSW 11 74,255,819 (GRCm39) missense probably damaging 1.00
R2031:Or1d2 UTSW 11 74,255,777 (GRCm39) missense probably damaging 1.00
R2185:Or1d2 UTSW 11 74,255,572 (GRCm39) missense probably benign
R3620:Or1d2 UTSW 11 74,256,050 (GRCm39) missense probably damaging 1.00
R4568:Or1d2 UTSW 11 74,256,035 (GRCm39) missense probably damaging 0.99
R4878:Or1d2 UTSW 11 74,255,674 (GRCm39) missense probably damaging 1.00
R7779:Or1d2 UTSW 11 74,255,771 (GRCm39) missense probably damaging 1.00
R8086:Or1d2 UTSW 11 74,255,780 (GRCm39) missense probably benign 0.05
R9155:Or1d2 UTSW 11 74,255,791 (GRCm39) missense probably benign 0.03
R9750:Or1d2 UTSW 11 74,255,858 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TATGTGGCCATCTGTCACCC -3'
(R):5'- TACACAGTGTCCCATAGAAGAGG -3'

Sequencing Primer
(F):5'- AGCCATGAGTCCCAAGCTCTG -3'
(R):5'- TGTCCCATAGAAGAGGGCCAC -3'
Posted On 2022-04-18