Incidental Mutation 'R2517:Or1x6'
ID 253954
Institutional Source Beutler Lab
Gene Symbol Or1x6
Ensembl Gene ENSMUSG00000057890
Gene Name olfactory receptor family 1 subfamily X member 6
Synonyms MOR126-2, Olfr1375, Olfr1375-ps1, GA_x6K02T2QP88-4389999-4389056
MMRRC Submission 040421-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R2517 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 50938936-50939877 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50939300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 122 (L122Q)
Ref Sequence ENSEMBL: ENSMUSP00000144756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073543]
AlphaFold A0A0N4SUP0
Predicted Effect probably damaging
Transcript: ENSMUST00000073543
AA Change: L122Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000073233
Gene: ENSMUSG00000057890
AA Change: L122Q

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 6.4e-60 PFAM
Pfam:7TM_GPCR_Srsx 37 306 3.9e-6 PFAM
Pfam:7tm_1 43 291 9.5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000073543
AA Change: L122Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144756
Gene: ENSMUSG00000057890
AA Change: L122Q

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 6.4e-60 PFAM
Pfam:7TM_GPCR_Srsx 37 306 3.9e-6 PFAM
Pfam:7tm_1 43 291 9.5e-26 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 C A 14: 56,019,403 (GRCm39) E82D probably damaging Het
Ago1 G A 4: 126,333,732 (GRCm39) R486* probably null Het
Ago2 T A 15: 72,996,091 (GRCm39) N346I possibly damaging Het
Apol11a A T 15: 77,401,395 (GRCm39) D294V probably benign Het
Atp13a5 A G 16: 29,116,215 (GRCm39) F634L possibly damaging Het
Atp2a2 G A 5: 122,595,576 (GRCm39) P953L probably damaging Het
Brca2 A G 5: 150,463,137 (GRCm39) D967G probably benign Het
Bud13 A T 9: 46,199,446 (GRCm39) H269L probably benign Het
Cachd1 A T 4: 100,838,079 (GRCm39) probably null Het
Cog3 T C 14: 75,979,182 (GRCm39) D188G probably benign Het
Col15a1 T C 4: 47,208,492 (GRCm39) S20P probably damaging Het
Col4a3 A G 1: 82,658,431 (GRCm39) D838G unknown Het
Cwh43 A T 5: 73,578,886 (GRCm39) T298S probably benign Het
Dip2c A G 13: 9,659,041 (GRCm39) R847G probably damaging Het
Dnah2 C T 11: 69,407,470 (GRCm39) D438N probably damaging Het
Drg2 T C 11: 60,358,954 (GRCm39) V358A probably damaging Het
Eif4enif1 T A 11: 3,171,168 (GRCm39) W220R probably damaging Het
Enpp2 A T 15: 54,783,090 (GRCm39) I75K probably damaging Het
Fam110c T C 12: 31,125,238 (GRCm39) I400T probably damaging Het
Fam193b C A 13: 55,690,629 (GRCm39) R711L probably damaging Het
Fgfr1 T C 8: 26,053,462 (GRCm39) Y246H probably damaging Het
Frs3 G A 17: 48,013,997 (GRCm39) R230Q probably benign Het
Galnt5 A G 2: 57,889,425 (GRCm39) K342E probably benign Het
Glrb A T 3: 80,769,054 (GRCm39) L189Q probably damaging Het
Gmeb2 T C 2: 180,900,819 (GRCm39) T193A probably benign Het
Gnl3 A G 14: 30,736,120 (GRCm39) S307P probably damaging Het
Golim4 A T 3: 75,800,166 (GRCm39) F443I probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Klf10 A C 15: 38,297,357 (GRCm39) Y228D probably benign Het
Klrc3 A T 6: 129,616,520 (GRCm39) W166R probably damaging Het
Kng2 A T 16: 22,807,065 (GRCm39) I378N probably benign Het
Map3k10 T C 7: 27,362,688 (GRCm39) K466R possibly damaging Het
Mrrf C T 2: 36,079,109 (GRCm39) T245M probably benign Het
Msi1 A G 5: 115,583,517 (GRCm39) Y239C probably damaging Het
Nfasc A G 1: 132,525,501 (GRCm39) probably null Het
Or7g25 A T 9: 19,160,357 (GRCm39) C113S probably benign Het
P3r3urf A G 4: 116,030,791 (GRCm39) D65G probably benign Het
Pkd1l1 T C 11: 8,908,900 (GRCm39) E368G unknown Het
Polq G A 16: 36,909,687 (GRCm39) G2078D probably damaging Het
Ppfibp1 A C 6: 146,893,942 (GRCm39) I134L probably damaging Het
Rasip1 A T 7: 45,284,247 (GRCm39) I608F probably damaging Het
Ripk3 A T 14: 56,025,492 (GRCm39) V24E probably damaging Het
Rtkn T A 6: 83,124,526 (GRCm39) I110N probably damaging Het
Scn1a C T 2: 66,104,176 (GRCm39) V1695I probably damaging Het
Shank2 A G 7: 143,606,042 (GRCm39) N75S possibly damaging Het
Snu13 C A 15: 81,928,182 (GRCm39) A14S probably benign Het
Snx27 A C 3: 94,438,541 (GRCm39) D231E probably damaging Het
Spef2 A G 15: 9,725,283 (GRCm39) I158T possibly damaging Het
Sptb A G 12: 76,696,643 (GRCm39) I19T possibly damaging Het
Ssu72 T C 4: 155,817,970 (GRCm39) L175P probably damaging Het
Tcstv2a T A 13: 120,725,475 (GRCm39) C46* probably null Het
Tecr C T 8: 84,299,204 (GRCm39) V248I probably benign Het
Tnfrsf13b T G 11: 61,032,302 (GRCm39) S59A probably benign Het
Tom1l1 T C 11: 90,561,951 (GRCm39) T150A possibly damaging Het
Ubr3 A T 2: 69,766,362 (GRCm39) Y410F probably damaging Het
Vmn2r108 A G 17: 20,692,577 (GRCm39) I93T probably damaging Het
Vmn2r19 A G 6: 123,306,937 (GRCm39) T482A probably benign Het
Vstm4 T A 14: 32,585,664 (GRCm39) M77K probably benign Het
Zbtb17 C T 4: 141,191,896 (GRCm39) T309I probably damaging Het
Zfp957 T C 14: 79,451,494 (GRCm39) T102A probably damaging Het
Other mutations in Or1x6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Or1x6 APN 11 50,939,227 (GRCm39) missense probably benign 0.00
R0268:Or1x6 UTSW 11 50,939,768 (GRCm39) missense probably damaging 1.00
R0462:Or1x6 UTSW 11 50,939,336 (GRCm39) missense probably damaging 1.00
R0478:Or1x6 UTSW 11 50,939,539 (GRCm39) missense probably benign 0.03
R0839:Or1x6 UTSW 11 50,939,254 (GRCm39) missense probably benign 0.06
R4688:Or1x6 UTSW 11 50,939,815 (GRCm39) missense probably damaging 1.00
R4781:Or1x6 UTSW 11 50,939,307 (GRCm39) missense probably damaging 1.00
R5396:Or1x6 UTSW 11 50,939,297 (GRCm39) missense probably damaging 1.00
R6163:Or1x6 UTSW 11 50,939,595 (GRCm39) nonsense probably null
R6739:Or1x6 UTSW 11 50,939,564 (GRCm39) missense probably damaging 0.97
R7344:Or1x6 UTSW 11 50,939,122 (GRCm39) missense probably damaging 1.00
R7994:Or1x6 UTSW 11 50,938,967 (GRCm39) missense probably benign 0.31
R8054:Or1x6 UTSW 11 50,939,090 (GRCm39) missense probably benign 0.22
R8129:Or1x6 UTSW 11 50,939,210 (GRCm39) missense probably benign 0.00
R8940:Or1x6 UTSW 11 50,939,455 (GRCm39) missense probably benign 0.01
R9005:Or1x6 UTSW 11 50,938,938 (GRCm39) start codon destroyed probably null 0.18
R9008:Or1x6 UTSW 11 50,938,938 (GRCm39) start codon destroyed probably null 0.18
R9016:Or1x6 UTSW 11 50,938,938 (GRCm39) start codon destroyed probably null 0.18
R9018:Or1x6 UTSW 11 50,938,938 (GRCm39) start codon destroyed probably null 0.18
R9028:Or1x6 UTSW 11 50,939,660 (GRCm39) missense probably damaging 1.00
R9051:Or1x6 UTSW 11 50,938,938 (GRCm39) start codon destroyed probably null 0.18
R9052:Or1x6 UTSW 11 50,938,938 (GRCm39) start codon destroyed probably null 0.18
R9203:Or1x6 UTSW 11 50,939,161 (GRCm39) missense possibly damaging 0.82
R9364:Or1x6 UTSW 11 50,939,223 (GRCm39) nonsense probably null
R9376:Or1x6 UTSW 11 50,939,662 (GRCm39) missense probably damaging 1.00
R9554:Or1x6 UTSW 11 50,939,223 (GRCm39) nonsense probably null
R9641:Or1x6 UTSW 11 50,939,207 (GRCm39) missense probably benign 0.34
Z1176:Or1x6 UTSW 11 50,939,662 (GRCm39) missense probably damaging 1.00
Z1177:Or1x6 UTSW 11 50,939,353 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGAACACACTCATCTTCCTG -3'
(R):5'- AGGCCAACTTCATGAGCAGG -3'

Sequencing Primer
(F):5'- GGCCATCATCTCCGACCC -3'
(R):5'- TTCATGAGCAGGTAAGCATCAC -3'
Posted On 2014-12-04