Incidental Mutation 'R6753:Or5ak4'
ID 530873
Institutional Source Beutler Lab
Gene Symbol Or5ak4
Ensembl Gene ENSMUSG00000075223
Gene Name olfactory receptor family 5 subfamily AK member 4
Synonyms Olfr987, MOR203-7P, GA_x6K02T2Q125-46808500-46807571
MMRRC Submission 044870-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6753 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85161311-85162240 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85162142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 33 (M33I)
Ref Sequence ENSEMBL: ENSMUSP00000150619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099929] [ENSMUST00000111598] [ENSMUST00000216347]
AlphaFold Q7TRA2
Predicted Effect probably benign
Transcript: ENSMUST00000099929
AA Change: M33I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097513
Gene: ENSMUSG00000075223
AA Change: M33I

Pfam:7tm_4 31 307 1.4e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 254 5.9e-6 PFAM
Pfam:7tm_1 41 290 1.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111598
AA Change: M33I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107225
Gene: ENSMUSG00000075223
AA Change: M33I

Pfam:7TM_GPCR_Srsx 35 254 5.9e-6 PFAM
Pfam:7tm_1 41 290 1.7e-31 PFAM
Pfam:7tm_4 139 283 6.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216347
AA Change: M33I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (68/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 119,900,977 (GRCm39) P1083S probably benign Het
Abcb5 T A 12: 118,908,641 (GRCm39) N101I possibly damaging Het
Adrb2 A G 18: 62,312,624 (GRCm39) V67A possibly damaging Het
Agk T A 6: 40,345,504 (GRCm39) probably null Het
Akap10 A T 11: 61,777,603 (GRCm39) M586K probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Armc1 A G 3: 19,198,562 (GRCm39) F133L possibly damaging Het
Bank1 T C 3: 135,799,069 (GRCm39) E424G probably damaging Het
Cacna1a A G 8: 85,306,834 (GRCm39) E1363G probably damaging Het
Cacna1d C A 14: 29,764,743 (GRCm39) A2076S probably damaging Het
Ccdc73 T A 2: 104,821,869 (GRCm39) L606* probably null Het
Ccdc8 C T 7: 16,730,562 (GRCm39) Q684* probably null Het
Ces1b T A 8: 93,793,648 (GRCm39) K314* probably null Het
Ces1e T A 8: 93,941,756 (GRCm39) N238I probably damaging Het
Chd4 A G 6: 125,091,263 (GRCm39) N1238S probably benign Het
Cmtr2 T A 8: 110,949,611 (GRCm39) D640E probably damaging Het
Col7a1 C T 9: 108,787,196 (GRCm39) T559I unknown Het
Comt T C 16: 18,226,771 (GRCm39) K205R probably benign Het
Dbp A T 7: 45,357,828 (GRCm39) E232V probably damaging Het
Dcbld2 A G 16: 58,276,493 (GRCm39) T470A possibly damaging Het
Eml6 T A 11: 29,704,987 (GRCm39) D1519V probably damaging Het
Evpl T A 11: 116,128,732 (GRCm39) H31L possibly damaging Het
Exoc1 T A 5: 76,711,186 (GRCm39) I86N probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fgfr3 T C 5: 33,889,503 (GRCm39) S301P probably benign Het
Gas2l1 C T 11: 5,014,254 (GRCm39) V69I probably damaging Het
Gm2042 T A 12: 87,924,854 (GRCm39) I107K probably damaging Het
Gucy1b1 T C 3: 81,947,054 (GRCm39) D385G probably null Het
Ints1 T A 5: 139,750,930 (GRCm39) E824D probably damaging Het
Itfg1 T C 8: 86,561,707 (GRCm39) D142G probably benign Het
Jaml A G 9: 45,018,677 (GRCm39) N359D probably benign Het
Kcnh7 T A 2: 62,680,721 (GRCm39) I289L probably benign Het
Klf12 G A 14: 100,347,212 (GRCm39) Q40* probably null Het
Mcm4 A C 16: 15,447,226 (GRCm39) N579K possibly damaging Het
Mfsd2b A T 12: 4,917,358 (GRCm39) F179I possibly damaging Het
Mmp11 C T 10: 75,764,208 (GRCm39) V86M probably damaging Het
Mogs T C 6: 83,092,863 (GRCm39) V101A probably damaging Het
Narf T A 11: 121,133,452 (GRCm39) H84Q probably benign Het
Otog A C 7: 45,898,495 (GRCm39) E204D probably benign Het
Parp8 G A 13: 117,031,651 (GRCm39) H354Y possibly damaging Het
Pcnx1 C A 12: 82,011,254 (GRCm39) D1238E probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pkd1l3 C T 8: 110,351,081 (GRCm39) T642I probably damaging Het
Pkhd1l1 G A 15: 44,453,059 (GRCm39) E3995K probably benign Het
Prdm9 A T 17: 15,765,218 (GRCm39) Y521N probably benign Het
Prex2 A G 1: 11,254,680 (GRCm39) S1105G probably damaging Het
Prss35 T A 9: 86,638,153 (GRCm39) F308I probably damaging Het
Rab22a C T 2: 173,542,848 (GRCm39) A167V probably benign Het
Rims2 A G 15: 39,430,369 (GRCm39) Q871R possibly damaging Het
Rorb A T 19: 18,934,611 (GRCm39) M253K probably benign Het
Ryr3 T C 2: 112,482,955 (GRCm39) D4269G probably damaging Het
Snx11 T C 11: 96,660,732 (GRCm39) probably benign Het
Son A G 16: 91,454,076 (GRCm39) Q941R probably damaging Het
Sptbn2 G T 19: 4,797,813 (GRCm39) R1880L probably benign Het
Sun1 G A 5: 139,201,014 (GRCm39) probably null Het
Tprn A G 2: 25,154,050 (GRCm39) R451G probably benign Het
Trbv30 T A 6: 41,258,311 (GRCm39) M1K probably null Het
Ttn C A 2: 76,568,565 (GRCm39) G25697W probably damaging Het
Ubb T G 11: 62,442,353 (GRCm39) probably null Het
Unc13b C T 4: 43,239,331 (GRCm39) R1038C probably damaging Het
Usp7 T C 16: 8,514,775 (GRCm39) M687V probably benign Het
Zfp160 G A 17: 21,240,996 (GRCm39) M21I probably benign Het
Zfp868 T C 8: 70,064,747 (GRCm39) N196S probably benign Het
Zup1 A T 10: 33,804,025 (GRCm39) I483N probably damaging Het
Other mutations in Or5ak4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Or5ak4 APN 2 85,161,945 (GRCm39) missense probably benign 0.37
IGL02267:Or5ak4 APN 2 85,161,465 (GRCm39) missense probably damaging 1.00
IGL03167:Or5ak4 APN 2 85,161,664 (GRCm39) missense probably benign 0.01
IGL03195:Or5ak4 APN 2 85,161,864 (GRCm39) missense probably damaging 1.00
R0918:Or5ak4 UTSW 2 85,162,276 (GRCm39) intron probably benign
R1573:Or5ak4 UTSW 2 85,161,687 (GRCm39) missense probably damaging 1.00
R1956:Or5ak4 UTSW 2 85,161,444 (GRCm39) missense probably benign 0.00
R2165:Or5ak4 UTSW 2 85,161,446 (GRCm39) missense probably benign
R4086:Or5ak4 UTSW 2 85,162,170 (GRCm39) missense probably benign 0.35
R5386:Or5ak4 UTSW 2 85,161,979 (GRCm39) missense probably benign 0.00
R5652:Or5ak4 UTSW 2 85,161,717 (GRCm39) missense probably damaging 1.00
R6755:Or5ak4 UTSW 2 85,162,142 (GRCm39) missense probably benign
R8347:Or5ak4 UTSW 2 85,162,047 (GRCm39) missense probably damaging 0.99
R9158:Or5ak4 UTSW 2 85,161,348 (GRCm39) missense probably benign 0.00
R9470:Or5ak4 UTSW 2 85,161,673 (GRCm39) missense probably damaging 1.00
Z1176:Or5ak4 UTSW 2 85,162,237 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-08-01