Incidental Mutation 'R6327:Or2y1d'
ID 510481
Institutional Source Beutler Lab
Gene Symbol Or2y1d
Ensembl Gene ENSMUSG00000107573
Gene Name olfactory receptor family 2 subfamily Y member 1D
Synonyms Olfr1389, MOR256-1, GA_x6K02T2QP88-6004387-6003452
MMRRC Submission 044481-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R6327 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 49321254-49322326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 49321828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 175 (H175P)
Ref Sequence ENSEMBL: ENSMUSP00000149222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000203369] [ENSMUST00000216641] [ENSMUST00000217595]
AlphaFold Q8VGX0
Predicted Effect probably damaging
Transcript: ENSMUST00000203369
AA Change: H175P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145461
Gene: ENSMUSG00000107573
AA Change: H175P

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 1.9e-49 PFAM
Pfam:7tm_1 41 289 6.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216641
AA Change: H175P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217595
AA Change: H175P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2555 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,655 (GRCm39) probably null Het
Birc6 C A 17: 74,969,774 (GRCm39) H383Q probably damaging Het
C2 C A 17: 35,083,079 (GRCm39) A431S probably benign Het
C3ar1 C T 6: 122,827,105 (GRCm39) V371M probably damaging Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Ckap2l A G 2: 129,127,414 (GRCm39) S255P probably damaging Het
Clca3a1 T A 3: 144,436,558 (GRCm39) I842F probably benign Het
Cmc2 G T 8: 117,620,896 (GRCm39) H28Q probably damaging Het
Col11a2 C T 17: 34,262,291 (GRCm39) P176L probably benign Het
Csmd3 T C 15: 47,744,783 (GRCm39) D1404G probably damaging Het
Dld G A 12: 31,382,190 (GRCm39) P506S probably benign Het
Dsg3 T C 18: 20,672,927 (GRCm39) M866T probably benign Het
Ehd1 T C 19: 6,348,375 (GRCm39) I451T possibly damaging Het
Fosb T C 7: 19,041,152 (GRCm39) T114A probably benign Het
Foxd4 T A 19: 24,878,198 (GRCm39) M1L possibly damaging Het
Fstl5 T A 3: 76,615,108 (GRCm39) I723N probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Hdlbp A G 1: 93,357,186 (GRCm39) S299P possibly damaging Het
Mast4 G A 13: 102,897,890 (GRCm39) R650C probably damaging Het
Micu3 A G 8: 40,819,238 (GRCm39) T306A probably benign Het
Mylk2 A G 2: 152,755,613 (GRCm39) Q259R possibly damaging Het
Nfkbiz T C 16: 55,642,325 (GRCm39) N31S probably damaging Het
Nisch A T 14: 30,893,444 (GRCm39) probably benign Het
Nudt17 T C 3: 96,615,080 (GRCm39) probably benign Het
Oprm1 A C 10: 6,780,063 (GRCm39) I242L probably damaging Het
Or13a26 T C 7: 140,284,616 (GRCm39) W151R probably damaging Het
Or14c39 T C 7: 86,343,760 (GRCm39) V32A probably benign Het
Otud6b A G 4: 14,826,496 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,519 (GRCm39) D606V probably damaging Het
Pcf11 T C 7: 92,308,817 (GRCm39) probably benign Het
Pom121l2 T C 13: 22,166,502 (GRCm39) S258P probably damaging Het
Rcsd1 T A 1: 165,483,403 (GRCm39) D196V possibly damaging Het
Sbf2 C T 7: 110,040,759 (GRCm39) R356Q probably damaging Het
Serpinf1 A G 11: 75,304,731 (GRCm39) probably null Het
Slc22a30 T G 19: 8,313,086 (GRCm39) probably benign Het
Strn4 G T 7: 16,550,384 (GRCm39) S36I probably benign Het
Taar6 A G 10: 23,861,177 (GRCm39) L123P probably damaging Het
Thbs1 G T 2: 117,943,137 (GRCm39) R5L unknown Het
Timp3 T C 10: 86,181,650 (GRCm39) Y174H probably benign Het
Trpm2 C T 10: 77,768,061 (GRCm39) V813M probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vcan A T 13: 89,852,951 (GRCm39) S670T probably damaging Het
Vmn1r65 A T 7: 6,011,651 (GRCm39) N194K possibly damaging Het
Other mutations in Or2y1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Or2y1d APN 11 49,321,859 (GRCm39) missense probably damaging 1.00
IGL02468:Or2y1d APN 11 49,321,941 (GRCm39) missense probably damaging 0.99
IGL02607:Or2y1d APN 11 49,321,339 (GRCm39) missense probably damaging 1.00
IGL02721:Or2y1d APN 11 49,321,468 (GRCm39) nonsense probably null
IGL02812:Or2y1d APN 11 49,321,749 (GRCm39) missense probably damaging 1.00
IGL03086:Or2y1d APN 11 49,321,632 (GRCm39) missense probably benign 0.03
IGL03047:Or2y1d UTSW 11 49,321,794 (GRCm39) missense probably benign 0.10
PIT4531001:Or2y1d UTSW 11 49,321,753 (GRCm39) missense probably benign 0.01
R0413:Or2y1d UTSW 11 49,322,212 (GRCm39) missense possibly damaging 0.82
R0598:Or2y1d UTSW 11 49,322,230 (GRCm39) missense probably benign 0.00
R0653:Or2y1d UTSW 11 49,322,078 (GRCm39) nonsense probably null
R1654:Or2y1d UTSW 11 49,321,329 (GRCm39) missense probably benign 0.00
R2321:Or2y1d UTSW 11 49,322,107 (GRCm39) missense probably benign 0.00
R4995:Or2y1d UTSW 11 49,321,482 (GRCm39) missense probably damaging 1.00
R5670:Or2y1d UTSW 11 49,322,035 (GRCm39) missense probably damaging 1.00
R6127:Or2y1d UTSW 11 49,321,633 (GRCm39) missense probably damaging 0.97
R6935:Or2y1d UTSW 11 49,321,825 (GRCm39) missense probably damaging 0.97
R7726:Or2y1d UTSW 11 49,321,727 (GRCm39) nonsense probably null
R7923:Or2y1d UTSW 11 49,321,432 (GRCm39) missense probably benign 0.01
R8960:Or2y1d UTSW 11 49,321,543 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TTGCCTTGGTCTCCACAGAG -3'
(R):5'- CAAGTTCCAAAGGCCTTTCTTC -3'

Sequencing Primer
(F):5'- CAGAGTGTCTGCTCCTGGG -3'
(R):5'- AAAGGCCTTTCTTCGTCCAG -3'
Posted On 2018-04-02