Incidental Mutation 'R0207:Olfr1247'
ID33369
Institutional Source Beutler Lab
Gene Symbol Olfr1247
Ensembl Gene ENSMUSG00000075081
Gene Nameolfactory receptor 1247
SynonymsMOR231-6, GA_x6K02T2Q125-51051555-51050611
MMRRC Submission 038460-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R0207 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location89604959-89614130 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 89609863 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 80 (L80F)
Ref Sequence ENSEMBL: ENSMUSP00000149408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099771] [ENSMUST00000111532] [ENSMUST00000216424]
Predicted Effect probably damaging
Transcript: ENSMUST00000099771
AA Change: L80F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097359
Gene: ENSMUSG00000075081
AA Change: L80F

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: L80F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081
AA Change: L80F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.2e-48 PFAM
Pfam:7tm_1 39 285 1.6e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000129804
AA Change: L80F

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120099
Gene: ENSMUSG00000075081
AA Change: L80F

DomainStartEndE-ValueType
Blast:CLECT 7 62 1e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000216424
AA Change: L80F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.5%
Validation Efficiency 95% (76/80)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,086,039 F488S probably damaging Het
Acap3 C T 4: 155,899,424 R116W probably damaging Het
Adamts10 C A 17: 33,545,390 P663T possibly damaging Het
Akap12 G A 10: 4,353,333 G48S probably damaging Het
Ankrd7 T A 6: 18,870,031 M261K probably benign Het
Ankzf1 C A 1: 75,198,304 D599E possibly damaging Het
Aox1 T C 1: 58,105,014 I1278T possibly damaging Het
Apcdd1 T C 18: 62,950,079 Y327H probably benign Het
Asxl3 T A 18: 22,411,496 probably benign Het
Birc6 C A 17: 74,662,832 probably benign Het
Btaf1 T A 19: 37,009,648 L1714* probably null Het
Cacng6 T A 7: 3,425,004 probably benign Het
Cdc20b A G 13: 113,078,612 D238G probably damaging Het
Celf5 T A 10: 81,470,698 R113W probably null Het
Cfap70 C A 14: 20,412,347 E659D probably damaging Het
Clspn T A 4: 126,590,598 M1183K possibly damaging Het
Dpy19l1 G A 9: 24,453,891 R275C probably damaging Het
Dst C T 1: 34,186,935 S1721L probably benign Het
Faap100 T C 11: 120,374,365 T562A probably damaging Het
Fam168b T C 1: 34,819,688 M133V probably damaging Het
Farp2 T C 1: 93,569,087 I172T probably damaging Het
Fer T G 17: 63,896,278 S68A probably damaging Het
Fmo5 A G 3: 97,645,681 E315G probably damaging Het
Gpr89 A T 3: 96,871,480 F426I probably damaging Het
Hinfp T C 9: 44,296,327 I461V possibly damaging Het
Hsd11b1 A T 1: 193,240,248 V167D probably damaging Het
Htt A G 5: 34,896,908 K2574E probably benign Het
I830077J02Rik A G 3: 105,926,505 S112P probably benign Het
Igf2bp3 T A 6: 49,105,617 M344L probably benign Het
Itch A T 2: 155,202,257 Q494L probably benign Het
Itga9 T C 9: 118,769,253 probably benign Het
Jaml T A 9: 45,093,767 D152E probably benign Het
Kif22 A C 7: 127,042,400 M1R probably null Het
Kifap3 T C 1: 163,883,386 Y663H probably benign Het
Letm2 T A 8: 25,578,770 N472I probably damaging Het
Mthfr T G 4: 148,052,224 V446G probably damaging Het
Myh11 T C 16: 14,211,260 E1206G possibly damaging Het
Myo6 G A 9: 80,288,056 V903I probably damaging Het
Myo9b C T 8: 71,355,225 probably benign Het
Nr2f2 G C 7: 70,360,175 P52R probably damaging Het
Nsd3 A G 8: 25,683,257 N859S probably benign Het
Nucb2 C A 7: 116,536,010 A384E probably damaging Het
Ogdhl C A 14: 32,342,037 probably null Het
Olfr119 C A 17: 37,701,058 C129* probably null Het
Olfr1357 T C 10: 78,611,871 T257A probably benign Het
Olfr1458 G A 19: 13,103,278 R3C possibly damaging Het
Olfr381 A T 11: 73,486,575 L83Q probably benign Het
Parp10 C T 15: 76,242,633 S145N probably benign Het
Pigh A G 12: 79,083,709 probably benign Het
Pigo A G 4: 43,023,824 probably benign Het
Pkp4 T A 2: 59,305,488 V199D possibly damaging Het
Polr1e C A 4: 45,025,143 probably null Het
Ppfia3 C A 7: 45,348,534 R723L probably damaging Het
Prex1 C A 2: 166,585,898 A945S possibly damaging Het
Prrt3 A T 6: 113,495,840 V457E probably damaging Het
Rab39 A G 9: 53,705,971 F49L possibly damaging Het
Rrs1 C A 1: 9,545,762 probably null Het
Rrs1 G A 1: 9,545,767 E82K probably damaging Het
Serpinb3c T C 1: 107,276,992 D8G probably benign Het
Slc17a6 A G 7: 51,646,180 probably benign Het
Slc24a4 T A 12: 102,228,951 probably null Het
Smc1b C T 15: 85,123,759 M272I probably benign Het
Smc6 T C 12: 11,283,178 probably benign Het
Tcf20 T C 15: 82,855,085 T722A probably benign Het
Tesmin A T 19: 3,404,088 M141L probably benign Het
Tmprss5 T A 9: 49,113,160 H274Q possibly damaging Het
Tns1 C T 1: 73,937,318 probably null Het
Tpr T C 1: 150,417,427 S868P possibly damaging Het
Trank1 C T 9: 111,366,253 T1115I probably damaging Het
Trmt44 A T 5: 35,572,917 I203K possibly damaging Het
Ulk2 A T 11: 61,777,785 V1037E probably benign Het
Usp43 A G 11: 67,876,499 Y682H probably damaging Het
Vipr2 A T 12: 116,142,882 Q366L probably damaging Het
Vmn1r185 C A 7: 26,611,589 V164L possibly damaging Het
Vmn2r120 C T 17: 57,525,052 V246I probably benign Het
Wdr66 T C 5: 123,283,447 V182A probably damaging Het
Wiz C T 17: 32,357,033 G790R probably damaging Het
Wnk1 A T 6: 119,952,733 S1016R probably damaging Het
Zc3hav1 A G 6: 38,311,174 L909S probably benign Het
Zfp236 T A 18: 82,640,227 I637F probably damaging Het
Zfp788 G A 7: 41,649,596 G532D probably damaging Het
Zranb1 T C 7: 132,950,385 I255T probably damaging 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
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
R5128:Olfr1247 UTSW 2 89609303 missense probably damaging 1.00
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'- TGGCTCCATTATTGGCAACTACCG -3'
(R):5'- CAGAATTTGTCCTTCTGGGCCTCAC -3'

Sequencing Primer
(F):5'- CATTATTGGCAACTACCGTGAGG -3'
(R):5'- TCCTACTGGGCAAAAAGCATTG -3'
Posted On2013-05-09