Incidental Mutation 'R9261:Or51k1'
ID 702248
Institutional Source Beutler Lab
Gene Symbol Or51k1
Ensembl Gene ENSMUSG00000066263
Gene Name olfactory receptor family 51 subfamily K member 1
Synonyms GA_x6K02T2PBJ9-6747143-6746193, MOR12-1, Olfr639
MMRRC Submission 068990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R9261 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103660957-103661907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103661336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 191 (C191Y)
Ref Sequence ENSEMBL: ENSMUSP00000149743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106862] [ENSMUST00000138055] [ENSMUST00000215653]
AlphaFold Q8VGY8
Predicted Effect probably damaging
Transcript: ENSMUST00000106862
AA Change: C191Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: C191Y

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.4e-120 PFAM
Pfam:7TM_GPCR_Srsx 37 173 3.6e-9 PFAM
Pfam:7tm_1 43 294 4.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000215653
AA Change: C191Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,075,397 (GRCm39) E1043G probably benign Het
Agps T G 2: 75,684,850 (GRCm39) probably benign Het
Ahnak A G 19: 8,993,503 (GRCm39) E4929G possibly damaging Het
Arl6ip4 T A 5: 124,256,146 (GRCm39) probably benign Het
Cdhr17 T C 5: 17,006,547 (GRCm39) L88P possibly damaging Het
Clca3a2 G T 3: 144,525,158 (GRCm39) H25N probably benign Het
Cubn C T 2: 13,283,262 (GRCm39) D3559N probably damaging Het
Dmac2 T A 7: 25,320,345 (GRCm39) W15R probably benign Het
Dzank1 T C 2: 144,355,344 (GRCm39) E117G probably benign Het
Eml2 A G 7: 18,913,743 (GRCm39) T187A probably benign Het
Eml5 A G 12: 98,822,287 (GRCm39) V747A probably damaging Het
Esr1 T A 10: 4,919,271 (GRCm39) S454T probably damaging Het
Evc2 A G 5: 37,537,895 (GRCm39) T528A probably benign Het
Fbxo5 T C 10: 5,752,325 (GRCm39) N96S probably damaging Het
Fcnb T C 2: 27,969,636 (GRCm39) T144A probably damaging Het
Fgf20 T A 8: 40,739,951 (GRCm39) probably benign Het
Gcg T C 2: 62,306,408 (GRCm39) probably benign Het
Gfm2 T A 13: 97,299,369 (GRCm39) Y363* probably null Het
Grwd1 C T 7: 45,475,381 (GRCm39) R387Q probably benign Het
Gstt2 C T 10: 75,669,511 (GRCm39) D59N possibly damaging Het
Herc1 A G 9: 66,412,129 (GRCm39) N4783S probably damaging Het
Hydin C A 8: 110,994,047 (GRCm39) A27E unknown Het
Iigp1c T A 18: 60,353,820 (GRCm39) probably benign Het
Ikbip A G 10: 90,932,249 (GRCm39) T298A possibly damaging Het
Il1rap A G 16: 26,541,724 (GRCm39) N655S possibly damaging Het
Kif21b C T 1: 136,077,162 (GRCm39) R395C probably damaging Het
Kif3a ATTGACG A 11: 53,484,248 (GRCm39) probably benign Het
Klhl40 A G 9: 121,609,002 (GRCm39) D389G probably benign Het
Ly6g A G 15: 75,030,529 (GRCm39) T116A probably damaging Het
Mast2 A G 4: 116,165,900 (GRCm39) L1276P probably damaging Het
Mitf A G 6: 97,990,704 (GRCm39) Q369R possibly damaging Het
Mtus2 T A 5: 148,243,453 (GRCm39) Y192* probably null Het
Nav1 T A 1: 135,388,095 (GRCm39) E1109D unknown Het
Nav2 A G 7: 49,246,904 (GRCm39) E2143G probably damaging Het
Nedd4 A G 9: 72,584,656 (GRCm39) Q119R possibly damaging Het
Nek9 A G 12: 85,359,841 (GRCm39) V537A probably damaging Het
Notum G T 11: 120,550,974 (GRCm39) T64K Het
Nudcd2 A G 11: 40,630,026 (GRCm39) N144S probably damaging Het
Nup205 A G 6: 35,176,792 (GRCm39) E596G probably benign Het
Olfml1 T A 7: 107,167,007 (GRCm39) L12Q possibly damaging Het
Or4f60 T A 2: 111,902,718 (GRCm39) D70V probably damaging Het
Or52n2c A T 7: 104,574,305 (GRCm39) M222K probably benign Het
Or56b2 T A 7: 104,337,260 (GRCm39) F13I probably benign Het
Or6b13 A G 7: 139,782,563 (GRCm39) V40A probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Padi4 T C 4: 140,479,926 (GRCm39) N409S probably damaging Het
Pam T A 1: 97,903,620 (GRCm39) T38S probably benign Het
Piezo2 T C 18: 63,208,868 (GRCm39) I1382V possibly damaging Het
Pla2g12a A T 3: 129,684,080 (GRCm39) Q153L possibly damaging Het
Pla2g4e T A 2: 120,019,910 (GRCm39) H180L probably benign Het
Pou2af2 T A 9: 51,202,998 (GRCm39) H52L probably benign Het
Pprc1 A G 19: 46,050,868 (GRCm39) T169A unknown Het
Prrc2c A G 1: 162,505,622 (GRCm39) I2592T possibly damaging Het
Ptchd3 T A 11: 121,722,956 (GRCm39) I348N probably damaging Het
Ralgps1 T C 2: 33,226,571 (GRCm39) D40G probably damaging Het
Rbm19 T C 5: 120,256,810 (GRCm39) F41S probably damaging Het
Rbsn T C 6: 92,166,797 (GRCm39) M616V probably benign Het
Ryr1 A T 7: 28,751,813 (GRCm39) M3660K possibly damaging Het
Sidt2 A T 9: 45,861,396 (GRCm39) V246E probably damaging Het
Slc4a4 T C 5: 89,347,568 (GRCm39) W770R probably damaging Het
Spata31d1c T A 13: 65,184,680 (GRCm39) S741T probably damaging Het
Stk19 T G 17: 35,051,432 (GRCm39) Y108S possibly damaging Het
Stox2 T C 8: 47,645,441 (GRCm39) E673G possibly damaging Het
Tax1bp1 T A 6: 52,714,116 (GRCm39) C271S probably benign Het
Tmem161a C A 8: 70,631,572 (GRCm39) R167S probably damaging Het
Tnrc6c T A 11: 117,605,105 (GRCm39) V80E probably damaging Het
Trpa1 G A 1: 14,963,465 (GRCm39) H586Y probably damaging Het
Tsr1 A G 11: 74,799,056 (GRCm39) T746A probably damaging Het
Uqcrfs1 T C 13: 30,724,794 (GRCm39) I249V probably damaging Het
Vmn2r84 C A 10: 130,229,976 (GRCm39) E45D probably benign Het
Vnn3 A G 10: 23,741,607 (GRCm39) E304G probably damaging Het
Zfp541 G A 7: 15,816,029 (GRCm39) V839M possibly damaging Het
Zfp62 A G 11: 49,108,350 (GRCm39) K814E probably benign Het
Other mutations in Or51k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Or51k1 APN 7 103,661,321 (GRCm39) missense probably damaging 1.00
IGL01547:Or51k1 APN 7 103,661,867 (GRCm39) missense probably benign 0.43
IGL02173:Or51k1 APN 7 103,661,037 (GRCm39) missense probably damaging 1.00
IGL02707:Or51k1 APN 7 103,661,609 (GRCm39) missense probably damaging 1.00
IGL03124:Or51k1 APN 7 103,661,001 (GRCm39) missense probably benign
R0004:Or51k1 UTSW 7 103,661,638 (GRCm39) missense probably benign 0.02
R0086:Or51k1 UTSW 7 103,661,261 (GRCm39) missense probably benign 0.23
R0370:Or51k1 UTSW 7 103,661,266 (GRCm39) missense probably damaging 0.99
R0599:Or51k1 UTSW 7 103,661,395 (GRCm39) nonsense probably null
R1351:Or51k1 UTSW 7 103,661,523 (GRCm39) missense possibly damaging 0.81
R1604:Or51k1 UTSW 7 103,661,162 (GRCm39) missense probably damaging 1.00
R2314:Or51k1 UTSW 7 103,661,436 (GRCm39) missense probably benign 0.09
R2656:Or51k1 UTSW 7 103,661,072 (GRCm39) missense probably damaging 0.96
R4594:Or51k1 UTSW 7 103,661,624 (GRCm39) missense probably benign 0.01
R4774:Or51k1 UTSW 7 103,661,795 (GRCm39) missense probably benign 0.00
R4945:Or51k1 UTSW 7 103,661,585 (GRCm39) missense possibly damaging 0.85
R4968:Or51k1 UTSW 7 103,661,777 (GRCm39) missense probably damaging 1.00
R4981:Or51k1 UTSW 7 103,661,312 (GRCm39) missense probably damaging 0.97
R5072:Or51k1 UTSW 7 103,661,325 (GRCm39) missense probably damaging 0.97
R5982:Or51k1 UTSW 7 103,661,117 (GRCm39) missense probably damaging 1.00
R6303:Or51k1 UTSW 7 103,661,238 (GRCm39) missense probably damaging 1.00
R6304:Or51k1 UTSW 7 103,661,238 (GRCm39) missense probably damaging 1.00
R6332:Or51k1 UTSW 7 103,660,980 (GRCm39) missense probably benign 0.00
R7107:Or51k1 UTSW 7 103,661,489 (GRCm39) missense probably benign 0.16
R7152:Or51k1 UTSW 7 103,661,226 (GRCm39) missense probably benign
R7456:Or51k1 UTSW 7 103,661,045 (GRCm39) missense possibly damaging 0.83
R7849:Or51k1 UTSW 7 103,661,510 (GRCm39) missense possibly damaging 0.56
R8023:Or51k1 UTSW 7 103,661,006 (GRCm39) missense probably damaging 0.97
R8082:Or51k1 UTSW 7 103,661,897 (GRCm39) missense probably benign 0.04
R8215:Or51k1 UTSW 7 103,661,330 (GRCm39) missense possibly damaging 0.85
R8428:Or51k1 UTSW 7 103,661,632 (GRCm39) nonsense probably null
R8985:Or51k1 UTSW 7 103,661,367 (GRCm39) missense probably damaging 1.00
Z1177:Or51k1 UTSW 7 103,661,357 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTGATGCATGCTTGGCAAC -3'
(R):5'- ACAGCCATTCTAACTCTGCC -3'

Sequencing Primer
(F):5'- AGGCACATAATATATAAGCACTGC -3'
(R):5'- AACTCTGCCTCGGATCATATC -3'
Posted On 2022-03-25