Incidental Mutation 'R5536:Or4x6'
ID 434808
Institutional Source Beutler Lab
Gene Symbol Or4x6
Ensembl Gene ENSMUSG00000084336
Gene Name olfactory receptor family 4 subfamily X member 6
Synonyms GA_x6K02T2Q125-51551618-51550689, Olfr1269, MOR228-3
MMRRC Submission 043094-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R5536 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89949011-89949940 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89949183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 253 (V253A)
Ref Sequence ENSEMBL: ENSMUSP00000150470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099756] [ENSMUST00000117787] [ENSMUST00000214404] [ENSMUST00000216493]
AlphaFold Q8VEZ2
Predicted Effect probably benign
Transcript: ENSMUST00000099756
AA Change: V253A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000097345
Gene: ENSMUSG00000084336
AA Change: V253A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3.8e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.2e-5 PFAM
Pfam:7tm_1 39 285 5.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117787
Predicted Effect probably benign
Transcript: ENSMUST00000214404
AA Change: V253A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000216493
AA Change: V253A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,772,149 (GRCm39) G446V possibly damaging Het
Aadac T G 3: 59,946,984 (GRCm39) N227K probably benign Het
Acap1 C T 11: 69,780,133 (GRCm39) G74R probably benign Het
Adrm1 A G 2: 179,813,981 (GRCm39) probably benign Het
Appl1 G C 14: 26,645,737 (GRCm39) S691* probably null Het
Atp2a2 T C 5: 122,595,245 (GRCm39) D1035G probably benign Het
AW551984 A G 9: 39,504,169 (GRCm39) I599T probably benign Het
Col23a1 C A 11: 51,458,776 (GRCm39) D304E probably damaging Het
Csmd1 T C 8: 16,338,674 (GRCm39) R478G probably damaging Het
Dnah7a T C 1: 53,464,412 (GRCm39) N3660D probably benign Het
Drosha T A 15: 12,929,797 (GRCm39) Y1331N possibly damaging Het
E2f6 T G 12: 16,874,685 (GRCm39) S256A probably benign Het
Evc A G 5: 37,483,927 (GRCm39) probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Galnt2 T C 8: 125,050,412 (GRCm39) C91R probably damaging Het
Gm3095 G T 14: 15,170,371 (GRCm39) M73I probably benign Het
Gpr179 T A 11: 97,234,641 (GRCm39) Q480L probably damaging Het
Gucy2g T A 19: 55,226,359 (GRCm39) I186F probably benign Het
Hmcn1 T A 1: 150,631,042 (GRCm39) I919F probably benign Het
Kdm3a A C 6: 71,588,920 (GRCm39) V363G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lama5 C T 2: 179,831,142 (GRCm39) R1839H probably damaging Het
Lpo T C 11: 87,707,389 (GRCm39) D208G probably damaging Het
Lpp A G 16: 24,663,956 (GRCm39) D411G possibly damaging Het
Marco T C 1: 120,432,464 (GRCm39) S8G possibly damaging Het
Mthfr T C 4: 148,128,940 (GRCm39) F171S probably damaging Het
Nlrx1 A T 9: 44,175,183 (GRCm39) S198T probably damaging Het
Nol10 C A 12: 17,466,138 (GRCm39) S511* probably null Het
Nup153 T C 13: 46,836,485 (GRCm39) T1375A probably benign Het
Obscn A G 11: 58,998,697 (GRCm39) S1367P probably damaging Het
Pcdha7 G A 18: 37,108,303 (GRCm39) V443M probably damaging Het
Plekha1 G T 7: 130,511,331 (GRCm39) R305I probably damaging Het
Psmb2 T A 4: 126,578,002 (GRCm39) I60N probably damaging Het
Rad17 C A 13: 100,767,612 (GRCm39) G330C probably damaging Het
Slc5a6 A G 5: 31,200,446 (GRCm39) S80P probably damaging Het
Srgap2 T A 1: 131,228,128 (GRCm39) probably null Het
Taf8 C A 17: 47,805,407 (GRCm39) R164L possibly damaging Het
Tmem87a C A 2: 120,227,911 (GRCm39) D79Y probably damaging Het
Tmtc4 G A 14: 123,170,291 (GRCm39) R574W probably benign Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Usf3 A G 16: 44,037,733 (GRCm39) T738A probably benign Het
Vmn2r54 A C 7: 12,366,343 (GRCm39) V197G probably benign Het
Zbtb40 G T 4: 136,714,642 (GRCm39) P1049Q probably damaging Het
Zfp551 A T 7: 12,149,488 (GRCm39) S640R possibly damaging Het
Zfp932 T A 5: 110,157,713 (GRCm39) C470* probably null Het
Zkscan8 T C 13: 21,710,838 (GRCm39) I91V probably damaging Het
Zmat4 T C 8: 24,238,508 (GRCm39) V30A probably damaging Het
Other mutations in Or4x6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Or4x6 APN 2 89,949,412 (GRCm39) missense probably damaging 1.00
IGL01518:Or4x6 APN 2 89,949,315 (GRCm39) missense possibly damaging 0.95
IGL01889:Or4x6 APN 2 89,949,309 (GRCm39) missense possibly damaging 0.84
IGL02629:Or4x6 APN 2 89,949,201 (GRCm39) nonsense probably null
R0732:Or4x6 UTSW 2 89,949,666 (GRCm39) missense probably benign 0.20
R1446:Or4x6 UTSW 2 89,949,202 (GRCm39) missense probably damaging 0.98
R1938:Or4x6 UTSW 2 89,949,427 (GRCm39) missense probably damaging 0.97
R4526:Or4x6 UTSW 2 89,949,016 (GRCm39) missense probably benign 0.01
R4786:Or4x6 UTSW 2 89,949,351 (GRCm39) missense possibly damaging 0.95
R4792:Or4x6 UTSW 2 89,949,174 (GRCm39) missense possibly damaging 0.95
R4925:Or4x6 UTSW 2 89,949,121 (GRCm39) missense probably damaging 1.00
R5152:Or4x6 UTSW 2 89,949,465 (GRCm39) missense probably damaging 0.98
R5296:Or4x6 UTSW 2 89,949,043 (GRCm39) missense probably damaging 0.97
R5450:Or4x6 UTSW 2 89,949,013 (GRCm39) makesense probably null
R7572:Or4x6 UTSW 2 89,949,087 (GRCm39) missense probably damaging 1.00
R7695:Or4x6 UTSW 2 89,949,207 (GRCm39) missense probably benign 0.08
R7879:Or4x6 UTSW 2 89,949,185 (GRCm39) nonsense probably null
R7938:Or4x6 UTSW 2 89,949,173 (GRCm39) nonsense probably null
R8280:Or4x6 UTSW 2 89,949,742 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- TTTGGACTCAGCAGCATTCC -3'
(R):5'- AAACTTGCCTGCTCAGACAC -3'

Sequencing Primer
(F):5'- GGACTCAGCAGCATTCCAATCC -3'
(R):5'- GCTCAGACACCTTCCTCATTGG -3'
Posted On 2016-10-24