Incidental Mutation 'R8489:Or51k2'
ID 657889
Institutional Source Beutler Lab
Gene Symbol Or51k2
Ensembl Gene ENSMUSG00000073937
Gene Name olfactory receptor family 51 subfamily K member 2
Synonyms MOR12-5, GA_x6K02T2PBJ9-6681230-6682168, Olfr633
MMRRC Submission 067932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R8489 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103595775-103596713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103596328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 185 (I185T)
Ref Sequence ENSEMBL: ENSMUSP00000149105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098188] [ENSMUST00000216006]
AlphaFold Q8VF02
Predicted Effect probably damaging
Transcript: ENSMUST00000098188
AA Change: I185T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095790
Gene: ENSMUSG00000073937
AA Change: I185T

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 1.3e-120 PFAM
Pfam:7TM_GPCR_Srsx 35 158 7e-10 PFAM
Pfam:7tm_1 41 292 2.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216006
AA Change: I185T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI661453 C A 17: 47,777,254 (GRCm39) probably benign Het
Apc2 T G 10: 80,143,298 (GRCm39) L466R probably damaging Het
Baz1b C A 5: 135,245,709 (GRCm39) P386H probably damaging Het
Ccdc149 T C 5: 52,533,999 (GRCm39) D389G probably benign Het
Cit T A 5: 116,083,962 (GRCm39) probably null Het
Cmas C A 6: 142,702,596 (GRCm39) A33E probably benign Het
Dcaf7 A G 11: 105,942,743 (GRCm39) N230S probably damaging Het
Dcun1d5 C A 9: 7,206,837 (GRCm39) probably benign Het
Dennd5b T A 6: 148,986,389 (GRCm39) D58V probably benign Het
Dmrt2 C A 19: 25,655,831 (GRCm39) Q477K probably damaging Het
Eva1c A G 16: 90,672,999 (GRCm39) N90S probably damaging Het
Fcgbp A T 7: 27,804,435 (GRCm39) I1848F possibly damaging Het
Fgfr2 T G 7: 129,769,534 (GRCm39) M522L probably benign Het
Fshr C A 17: 89,293,795 (GRCm39) K294N probably benign Het
Gja10 T C 4: 32,601,866 (GRCm39) I173V probably benign Het
Gmnn A G 13: 24,941,614 (GRCm39) S32P probably damaging Het
Hdac9 T C 12: 34,487,180 (GRCm39) N95D probably damaging Het
Ipo13 T C 4: 117,758,219 (GRCm39) T715A probably damaging Het
Klrc2 A G 6: 129,635,787 (GRCm39) S97P probably benign Het
Lrrn4 G A 2: 132,721,364 (GRCm39) S151L probably benign Het
Man2a1 G T 17: 64,908,765 (GRCm39) S12I possibly damaging Het
Mplkipl1 T C 19: 61,164,085 (GRCm39) T117A probably damaging Het
Mrgprb8 T A 7: 48,038,701 (GRCm39) V124E possibly damaging Het
Myo5c T C 9: 75,180,128 (GRCm39) W690R probably damaging Het
Ncapd2 T C 6: 125,150,745 (GRCm39) K817E probably damaging Het
Or5h27 A G 16: 59,006,400 (GRCm39) *149Q probably null Het
Or5p60 T A 7: 107,724,372 (GRCm39) I33F probably benign Het
Or8b50 T C 9: 38,518,232 (GRCm39) M157T probably benign Het
Pcdh18 A T 3: 49,709,038 (GRCm39) I759N probably damaging Het
Pcdhac2 A T 18: 37,278,207 (GRCm39) N396Y probably damaging Het
Pcm1 T A 8: 41,766,437 (GRCm39) C1542S probably benign Het
Pcsk1 T A 13: 75,274,121 (GRCm39) V450E probably damaging Het
Pld2 A G 11: 70,445,121 (GRCm39) K574E probably damaging Het
Pramel52-ps T C 5: 94,531,551 (GRCm39) L145P probably damaging Het
Psmc1 C T 12: 100,089,356 (GRCm39) R410C probably benign Het
Rad51b C T 12: 79,374,024 (GRCm39) S201L probably benign Het
Rgs3 T A 4: 62,544,733 (GRCm39) L200Q probably damaging Het
Rims2 A G 15: 39,479,846 (GRCm39) M1293V probably damaging Het
Scin C T 12: 40,131,019 (GRCm39) G298D probably damaging Het
Scn8a C A 15: 100,867,014 (GRCm39) F123L probably damaging Het
Snapc3 G A 4: 83,369,531 (GRCm39) C353Y probably damaging Het
Sned1 C A 1: 93,210,978 (GRCm39) S231* probably null Het
Tex15 A G 8: 34,067,574 (GRCm39) T2335A probably benign Het
Tigd4 G A 3: 84,502,526 (GRCm39) G481D probably benign Het
Trank1 T G 9: 111,219,343 (GRCm39) F2027V probably benign Het
Ubr1 C T 2: 120,711,548 (GRCm39) A1449T probably benign Het
Ulk1 G T 5: 110,947,002 (GRCm39) Y89* probably null Het
Usp54 A G 14: 20,611,604 (GRCm39) F1071L probably benign Het
Utrn C T 10: 12,587,190 (GRCm39) E949K probably benign Het
Vmn2r65 T A 7: 84,589,964 (GRCm39) T651S possibly damaging Het
Wdfy1 A G 1: 79,739,368 (GRCm39) L17P probably damaging Het
Zfp672 G A 11: 58,220,681 (GRCm39) probably benign Het
Other mutations in Or51k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Or51k2 APN 7 103,596,204 (GRCm39) missense probably benign 0.03
IGL01728:Or51k2 APN 7 103,595,959 (GRCm39) missense probably damaging 1.00
IGL02125:Or51k2 APN 7 103,596,279 (GRCm39) missense probably damaging 1.00
IGL02332:Or51k2 APN 7 103,596,127 (GRCm39) missense probably damaging 0.98
IGL03336:Or51k2 APN 7 103,596,616 (GRCm39) missense probably damaging 1.00
R0611:Or51k2 UTSW 7 103,596,400 (GRCm39) missense probably damaging 1.00
R1341:Or51k2 UTSW 7 103,596,589 (GRCm39) missense possibly damaging 0.95
R1971:Or51k2 UTSW 7 103,596,150 (GRCm39) missense probably damaging 1.00
R2171:Or51k2 UTSW 7 103,595,992 (GRCm39) missense probably damaging 1.00
R4958:Or51k2 UTSW 7 103,595,808 (GRCm39) missense probably damaging 1.00
R6700:Or51k2 UTSW 7 103,596,531 (GRCm39) missense probably damaging 1.00
R7585:Or51k2 UTSW 7 103,596,607 (GRCm39) missense probably benign 0.01
R7640:Or51k2 UTSW 7 103,596,150 (GRCm39) missense probably damaging 1.00
R8330:Or51k2 UTSW 7 103,596,610 (GRCm39) missense possibly damaging 0.56
R8463:Or51k2 UTSW 7 103,595,834 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GCTTTGTCGCCATCTACAAC -3'
(R):5'- CAGAGCCACGCTGATCATAG -3'

Sequencing Primer
(F):5'- TGTCGCCATCTACAACCCACTC -3'
(R):5'- CGCTGATCATAGGCACATAGTAC -3'
Posted On 2021-01-18