Incidental Mutation 'R5128:Olfr1247'
ID394848
Institutional Source Beutler Lab
Gene Symbol Olfr1247
Ensembl Gene ENSMUSG00000075081
Gene Nameolfactory receptor 1247
SynonymsMOR231-6, GA_x6K02T2Q125-51051555-51050611
MMRRC Submission 042716-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #R5128 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location89604959-89614130 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89609303 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 266 (D266E)
Ref Sequence ENSEMBL: ENSMUSP00000149408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099771] [ENSMUST00000111532] [ENSMUST00000216424]
Predicted Effect probably damaging
Transcript: ENSMUST00000099771
AA Change: D266E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097359
Gene: ENSMUSG00000075081
AA Change: D266E

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 4.9e-29 PFAM
Pfam:7tm_4 137 278 4.2e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111532
AA Change: D266E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081
AA Change: D266E

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.2e-48 PFAM
Pfam:7tm_1 39 285 1.6e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216424
AA Change: D266E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4616 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (48/48)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik G A 2: 111,164,329 Q251* probably null Het
Abcc6 A G 7: 45,989,646 S958P probably benign Het
Ahnak T C 19: 9,017,087 L5245P probably damaging Het
Alg5 T A 3: 54,742,137 probably null Het
Anapc1 A G 2: 128,659,917 V735A probably benign Het
Arhgap45 A G 10: 80,030,959 T1099A probably benign Het
Cacna1e A C 1: 154,402,021 S2062A probably damaging Het
Chrna9 A G 5: 65,971,222 S258G probably benign Het
Ctcfl T C 2: 173,117,396 E179G probably benign Het
Dcdc2a C A 13: 25,102,529 A145E probably damaging Het
Dgkz A G 2: 91,942,683 I343T probably damaging Het
Dnah1 T C 14: 31,296,195 probably null Het
Dqx1 T C 6: 83,060,567 L374P probably damaging Het
Entpd5 A T 12: 84,394,690 F101L probably benign Het
Esco1 A T 18: 10,567,468 probably benign Het
Fgf1 C A 18: 38,842,025 V124L probably benign Het
Gm16380 C T 9: 53,884,113 noncoding transcript Het
Grid2 G A 6: 64,665,998 A915T probably benign Het
Inhbc A T 10: 127,357,742 M135K probably benign Het
Mertk C A 2: 128,738,247 T207K probably damaging Het
Mroh9 C G 1: 163,060,760 G249R probably damaging Het
Mtmr10 C T 7: 64,333,439 T498I probably damaging Het
Muc3 A G 5: 137,138,186 probably null Het
Nlrp1c-ps G T 11: 71,279,595 noncoding transcript Het
Nphp4 T A 4: 152,502,991 I267N probably benign Het
Obox8 A G 7: 14,332,090 W168R probably damaging Het
Olfr143 T C 9: 38,253,570 L48P probably damaging Het
Olfr330 A T 11: 58,529,422 V188E probably damaging Het
Pafah1b1 A G 11: 74,679,436 probably benign Het
Palld T C 8: 61,720,588 T346A probably damaging Het
Pip4k2b A G 11: 97,718,876 S412P probably benign Het
Scn3a T C 2: 65,508,518 S606G probably benign Het
Slc12a7 G T 13: 73,805,433 S754I probably benign Het
Tep1 A G 14: 50,844,279 *489R probably null Het
Tnn A T 1: 160,122,894 V714E probably damaging Het
Trappc9 A T 15: 73,058,393 I38N probably damaging Het
Ttc16 T A 2: 32,762,997 I550F probably benign Het
Vit T C 17: 78,625,146 S561P probably damaging Het
Zdhhc1 T A 8: 105,483,636 I50F probably benign Het
Zfp451 C T 1: 33,802,933 probably benign Het
Zfp597 G A 16: 3,872,124 probably benign Het
Other mutations in Olfr1247
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Olfr1247 APN 2 89609847 missense probably benign 0.00
IGL01337:Olfr1247 APN 2 89609376 missense probably damaging 0.97
IGL02537:Olfr1247 APN 2 89609395 missense possibly damaging 0.88
IGL02651:Olfr1247 APN 2 89609498 missense possibly damaging 0.67
IGL02734:Olfr1247 APN 2 89609959 missense probably benign 0.04
IGL03177:Olfr1247 APN 2 89609482 missense probably benign 0.03
IGL03184:Olfr1247 APN 2 89609568 missense probably damaging 1.00
R0207:Olfr1247 UTSW 2 89609863 missense probably damaging 0.97
R0278:Olfr1247 UTSW 2 89609763 missense probably damaging 1.00
R0278:Olfr1247 UTSW 2 89609764 missense probably damaging 1.00
R0601:Olfr1247 UTSW 2 89609220 missense probably benign 0.00
R0633:Olfr1247 UTSW 2 89609374 missense probably benign 0.10
R1824:Olfr1247 UTSW 2 89609349 missense probably damaging 1.00
R1863:Olfr1247 UTSW 2 89609709 nonsense probably null
R2073:Olfr1247 UTSW 2 89609478 missense probably benign 0.01
R2074:Olfr1247 UTSW 2 89609478 missense probably benign 0.01
R2075:Olfr1247 UTSW 2 89609478 missense probably benign 0.01
R3921:Olfr1247 UTSW 2 89609509 missense probably benign 0.00
R4559:Olfr1247 UTSW 2 89609699 missense probably damaging 0.99
R5140:Olfr1247 UTSW 2 89609283 missense probably damaging 1.00
R5426:Olfr1247 UTSW 2 89609739 missense probably damaging 1.00
R5896:Olfr1247 UTSW 2 89609323 missense probably damaging 0.98
R5902:Olfr1247 UTSW 2 89609251 missense probably damaging 1.00
R6478:Olfr1247 UTSW 2 89609446 missense probably damaging 1.00
R7143:Olfr1247 UTSW 2 89610019 missense probably benign 0.00
R7221:Olfr1247 UTSW 2 89609928 missense probably damaging 1.00
R7599:Olfr1247 UTSW 2 89609227 missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GCTCACCTTCAATAGTCATAAAGAACG -3'
(R):5'- ATTGGCCTCACGGTAGTTGC -3'

Sequencing Primer
(F):5'- ATCCTGTTATCAACTCAAGAACTTG -3'
(R):5'- GCCTCACGGTAGTTGCCAATAATG -3'
Posted On2016-06-21