Incidental Mutation 'R6270:Or51f1d'
ID 507271
Institutional Source Beutler Lab
Gene Symbol Or51f1d
Ensembl Gene ENSMUSG00000073960
Gene Name olfactory receptor family 51 subfamily F member 1D
Synonyms Olfr583, GA_x6K02T2PBJ9-5762668-5763618, MOR14-6
MMRRC Submission 044441-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R6270 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102700507-102701466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102700538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 11 (L11P)
Ref Sequence ENSEMBL: ENSMUSP00000095812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098211]
AlphaFold Q8VG25
Predicted Effect probably benign
Transcript: ENSMUST00000098211
AA Change: L11P

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095812
Gene: ENSMUSG00000073960
AA Change: L11P

DomainStartEndE-ValueType
Pfam:7tm_4 40 319 9.1e-107 PFAM
Pfam:7TM_GPCR_Srsx 45 316 1.4e-5 PFAM
Pfam:7tm_1 50 301 9.6e-20 PFAM
Meta Mutation Damage Score 0.1043 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (51/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,242,933 (GRCm39) E648G probably benign Het
Ak7 A G 12: 105,734,960 (GRCm39) H642R probably benign Het
Akap11 T C 14: 78,756,239 (GRCm39) E53G probably damaging Het
Ark2n T C 18: 77,762,117 (GRCm39) D65G probably damaging Het
Ddr2 T G 1: 169,816,109 (GRCm39) T533P probably benign Het
Dhx40 A G 11: 86,690,431 (GRCm39) S197P possibly damaging Het
Dolpp1 C A 2: 30,282,281 (GRCm39) probably benign Het
Eng A G 2: 32,563,655 (GRCm39) D347G probably benign Het
Esrra C T 19: 6,891,488 (GRCm39) probably null Het
Fap T C 2: 62,378,132 (GRCm39) I159V probably damaging Het
Fn1 C T 1: 71,676,434 (GRCm39) C599Y probably damaging Het
Fnbp4 T C 2: 90,587,807 (GRCm39) V395A probably damaging Het
Foxn3 T C 12: 99,354,676 (GRCm39) R163G probably damaging Het
Gphn T G 12: 78,569,724 (GRCm39) L306R probably benign Het
Gse1 T C 8: 121,295,902 (GRCm39) probably benign Het
Habp2 A G 19: 56,295,295 (GRCm39) D62G possibly damaging Het
Hdac7 AGGG AGGGG 15: 97,706,376 (GRCm39) probably null Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Kit A G 5: 75,770,169 (GRCm39) T194A probably benign Het
Krt16 C A 11: 100,138,029 (GRCm39) A316S possibly damaging Het
Krt7 A G 15: 101,317,439 (GRCm39) D244G probably damaging Het
Lhfpl3 T A 5: 23,478,349 (GRCm39) Y77* probably null Het
Lrrc18 A T 14: 32,731,078 (GRCm39) M206L probably benign Het
Magel2 C A 7: 62,030,406 (GRCm39) C1103* probably null Het
Mcf2l T C 8: 13,068,701 (GRCm39) V1058A probably damaging Het
Nbas G A 12: 13,374,294 (GRCm39) A541T probably damaging Het
Nrap C T 19: 56,308,630 (GRCm39) M1485I probably benign Het
Nudt18 T C 14: 70,816,830 (GRCm39) Y145H probably benign Het
Or51b6b T C 7: 103,309,620 (GRCm39) Y279C possibly damaging Het
Or5k8 A T 16: 58,644,782 (GRCm39) C97S probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb12 A T 18: 37,569,838 (GRCm39) Q328L possibly damaging Het
Pde6c T C 19: 38,146,884 (GRCm39) W431R probably damaging Het
Pga5 T C 19: 10,652,225 (GRCm39) E139G probably benign Het
Pkdrej G T 15: 85,705,306 (GRCm39) S210* probably null Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Sema3d A T 5: 12,498,074 (GRCm39) M27L probably benign Het
Serinc5 T C 13: 92,825,170 (GRCm39) S200P probably damaging Het
Sf3b3 T C 8: 111,568,452 (GRCm39) D174G probably damaging Het
Sult1b1 A T 5: 87,665,413 (GRCm39) probably null Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcaf3 T C 6: 42,570,725 (GRCm39) I342M probably benign Het
Tenm3 G A 8: 48,820,429 (GRCm39) T136M probably damaging Het
Tet3 T C 6: 83,352,773 (GRCm39) T1008A possibly damaging Het
Tgif1 T C 17: 71,151,861 (GRCm39) probably null Het
Trav15-2-dv6-2 A G 14: 53,887,323 (GRCm39) D81G probably benign Het
Trpv5 T A 6: 41,651,293 (GRCm39) H251L possibly damaging Het
Ttc14 C A 3: 33,854,537 (GRCm39) T37K possibly damaging Het
Vmn2r80 A T 10: 79,030,159 (GRCm39) I662L probably benign Het
Vmn2r81 A G 10: 79,129,649 (GRCm39) I847V probably benign Het
Zfp474 A G 18: 52,771,436 (GRCm39) T30A probably benign Het
Zswim4 C T 8: 84,957,580 (GRCm39) V163M probably damaging Het
Other mutations in Or51f1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Or51f1d APN 7 102,700,582 (GRCm39) missense probably benign 0.02
IGL02200:Or51f1d APN 7 102,701,000 (GRCm39) missense probably benign
IGL02412:Or51f1d APN 7 102,701,359 (GRCm39) missense probably benign 0.01
IGL02452:Or51f1d APN 7 102,701,138 (GRCm39) missense probably benign 0.00
IGL02859:Or51f1d APN 7 102,701,345 (GRCm39) missense probably benign 0.00
IGL03078:Or51f1d APN 7 102,701,036 (GRCm39) missense probably damaging 1.00
R0675:Or51f1d UTSW 7 102,700,909 (GRCm39) missense probably benign 0.22
R1474:Or51f1d UTSW 7 102,701,288 (GRCm39) missense probably damaging 1.00
R1531:Or51f1d UTSW 7 102,700,795 (GRCm39) missense probably benign 0.00
R1535:Or51f1d UTSW 7 102,700,576 (GRCm39) missense probably benign 0.14
R1777:Or51f1d UTSW 7 102,700,583 (GRCm39) missense probably benign 0.41
R1883:Or51f1d UTSW 7 102,701,189 (GRCm39) missense probably benign 0.00
R1884:Or51f1d UTSW 7 102,701,189 (GRCm39) missense probably benign 0.00
R2265:Or51f1d UTSW 7 102,701,344 (GRCm39) missense probably benign 0.00
R2267:Or51f1d UTSW 7 102,701,344 (GRCm39) missense probably benign 0.00
R2269:Or51f1d UTSW 7 102,701,344 (GRCm39) missense probably benign 0.00
R2299:Or51f1d UTSW 7 102,700,789 (GRCm39) missense probably damaging 0.99
R3802:Or51f1d UTSW 7 102,701,372 (GRCm39) missense probably benign 0.05
R4239:Or51f1d UTSW 7 102,701,003 (GRCm39) missense probably benign 0.17
R4426:Or51f1d UTSW 7 102,701,018 (GRCm39) missense probably damaging 1.00
R5335:Or51f1d UTSW 7 102,700,742 (GRCm39) missense probably damaging 1.00
R6048:Or51f1d UTSW 7 102,700,526 (GRCm39) missense probably benign 0.00
R6837:Or51f1d UTSW 7 102,700,929 (GRCm39) nonsense probably null
R7257:Or51f1d UTSW 7 102,700,837 (GRCm39) missense probably benign 0.39
R8506:Or51f1d UTSW 7 102,700,709 (GRCm39) missense probably damaging 1.00
R8947:Or51f1d UTSW 7 102,701,315 (GRCm39) missense probably damaging 0.99
R9638:Or51f1d UTSW 7 102,701,018 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCTCTCACACTGGAAGATTC -3'
(R):5'- ACATAGGTTCATGCAGGCTATG -3'

Sequencing Primer
(F):5'- CTCTCACACTGGAAGATTCTTATTG -3'
(R):5'- CAGGCTATGCTGGGTCACAATG -3'
Posted On 2018-03-15