Incidental Mutation 'R0615:Or4k47'
ID 54992
Institutional Source Beutler Lab
Gene Symbol Or4k47
Ensembl Gene ENSMUSG00000094858
Gene Name olfactory receptor family 4 subfamily K member 47
Synonyms GA_x6K02T2Q125-72673494-72672556, Olfr1297, MOR248-4
MMRRC Submission 038804-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R0615 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111451479-111452417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111452264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 52 (D52N)
Ref Sequence ENSEMBL: ENSMUSP00000150543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099612] [ENSMUST00000207283] [ENSMUST00000213398]
AlphaFold Q8VGE8
Predicted Effect possibly damaging
Transcript: ENSMUST00000099612
AA Change: D52N

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097207
Gene: ENSMUSG00000094858
AA Change: D52N

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.8e-48 PFAM
Pfam:7tm_1 41 287 6.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207283
AA Change: D52N
Predicted Effect possibly damaging
Transcript: ENSMUST00000213398
AA Change: D52N

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.2311 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (57/57)
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
4933411K16Rik T C 19: 42,040,962 (GRCm39) I31T possibly damaging Het
Abca13 A G 11: 9,206,197 (GRCm39) I166V probably damaging Het
Acaa2 G T 18: 74,931,517 (GRCm39) V238L probably benign Het
Ahsg A T 16: 22,717,805 (GRCm39) I296F possibly damaging Het
Aspm T A 1: 139,415,027 (GRCm39) V1436D probably damaging Het
Ate1 A T 7: 130,115,563 (GRCm39) probably benign Het
Atosa T A 9: 74,911,570 (GRCm39) Y14N probably damaging Het
Atp1a4 A T 1: 172,059,627 (GRCm39) probably benign Het
Aurkc A T 7: 7,005,402 (GRCm39) I223L possibly damaging Het
Bckdha G T 7: 25,341,210 (GRCm39) D50E probably benign Het
Brf2 C T 8: 27,614,059 (GRCm39) E376K probably benign Het
Cdk9 C A 2: 32,599,813 (GRCm39) L141F possibly damaging Het
Cgn A C 3: 94,678,024 (GRCm39) probably benign Het
Clcn1 G A 6: 42,282,509 (GRCm39) V526I probably damaging Het
Cnot2 A G 10: 116,334,141 (GRCm39) V343A possibly damaging Het
Commd2 A T 3: 57,554,116 (GRCm39) V195D possibly damaging Het
Cubn C T 2: 13,365,063 (GRCm39) probably null Het
Eif2ak4 C T 2: 118,266,666 (GRCm39) T729M probably damaging Het
Elac1 A T 18: 73,871,954 (GRCm39) V347E probably damaging Het
Fam209 T C 2: 172,316,053 (GRCm39) S143P probably benign Het
Fam20c G A 5: 138,793,241 (GRCm39) R454Q probably damaging Het
Faxc C T 4: 21,958,608 (GRCm39) S255L probably benign Het
Fem1al C A 11: 29,774,515 (GRCm39) R314L probably damaging Het
Foxj1 T C 11: 116,224,908 (GRCm39) D153G possibly damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Lmo7 T A 14: 102,114,295 (GRCm39) Y12* probably null Het
Matn3 T G 12: 9,013,594 (GRCm39) C425W probably damaging Het
Mmd2 A T 5: 142,550,668 (GRCm39) M190K probably benign Het
Morn2 A T 17: 80,603,026 (GRCm39) T102S probably damaging Het
Nr3c2 A C 8: 77,912,518 (GRCm39) T710P probably benign Het
Nrros C A 16: 31,962,903 (GRCm39) L343F probably damaging Het
Ntrk2 C T 13: 59,276,000 (GRCm39) Q767* probably null Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Plekhf2 C T 4: 10,991,330 (GRCm39) R4H probably benign Het
Ppox A G 1: 171,105,387 (GRCm39) probably benign Het
Qprt T A 7: 126,708,248 (GRCm39) D61V probably damaging Het
Reln A G 5: 22,215,148 (GRCm39) V1101A probably benign Het
Sbno1 T C 5: 124,548,202 (GRCm39) N124D probably damaging Het
Scx C T 15: 76,342,295 (GRCm39) P165L probably benign Het
Sema6d T C 2: 124,496,055 (GRCm39) probably benign Het
Serf2 T C 2: 121,281,336 (GRCm39) F92L probably benign Het
Synpo2 A T 3: 122,910,936 (GRCm39) N236K probably damaging Het
Tbc1d32 C A 10: 56,100,736 (GRCm39) D81Y probably benign Het
Terf2 G A 8: 107,809,622 (GRCm39) T232I possibly damaging Het
Tpd52l2 A G 2: 181,143,744 (GRCm39) E50G probably damaging Het
Tprn A G 2: 25,154,210 (GRCm39) E504G probably damaging Het
Tufm G T 7: 126,086,654 (GRCm39) R12L probably benign Het
Vmn2r8 A G 5: 108,947,195 (GRCm39) F519S probably damaging Het
Vwa8 T C 14: 79,145,590 (GRCm39) V89A probably benign Het
Wnt3 T C 11: 103,703,207 (GRCm39) I230T possibly damaging Het
Zan A T 5: 137,466,693 (GRCm39) F388Y probably damaging Het
Zfp474 C T 18: 52,771,421 (GRCm39) L25F probably benign Het
Other mutations in Or4k47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Or4k47 APN 2 111,451,685 (GRCm39) missense probably damaging 1.00
IGL01305:Or4k47 APN 2 111,451,546 (GRCm39) missense probably damaging 1.00
IGL01903:Or4k47 APN 2 111,452,003 (GRCm39) missense probably benign 0.01
IGL01984:Or4k47 APN 2 111,451,927 (GRCm39) missense probably benign 0.34
IGL03065:Or4k47 APN 2 111,451,535 (GRCm39) missense probably damaging 0.98
ANU22:Or4k47 UTSW 2 111,451,546 (GRCm39) missense probably damaging 1.00
R0313:Or4k47 UTSW 2 111,451,945 (GRCm39) missense possibly damaging 0.77
R1028:Or4k47 UTSW 2 111,451,870 (GRCm39) missense probably damaging 1.00
R1078:Or4k47 UTSW 2 111,451,690 (GRCm39) missense probably damaging 1.00
R1158:Or4k47 UTSW 2 111,452,086 (GRCm39) missense probably damaging 1.00
R1419:Or4k47 UTSW 2 111,451,640 (GRCm39) missense probably benign 0.05
R1980:Or4k47 UTSW 2 111,451,586 (GRCm39) missense probably benign 0.00
R1981:Or4k47 UTSW 2 111,451,586 (GRCm39) missense probably benign 0.00
R2044:Or4k47 UTSW 2 111,452,159 (GRCm39) missense probably benign 0.02
R2080:Or4k47 UTSW 2 111,452,084 (GRCm39) missense probably benign
R2170:Or4k47 UTSW 2 111,451,945 (GRCm39) missense possibly damaging 0.77
R4494:Or4k47 UTSW 2 111,451,493 (GRCm39) nonsense probably null
R4965:Or4k47 UTSW 2 111,451,879 (GRCm39) missense probably damaging 1.00
R5175:Or4k47 UTSW 2 111,451,771 (GRCm39) missense possibly damaging 0.78
R5891:Or4k47 UTSW 2 111,451,778 (GRCm39) missense probably damaging 1.00
R6192:Or4k47 UTSW 2 111,451,520 (GRCm39) missense possibly damaging 0.91
R6383:Or4k47 UTSW 2 111,451,531 (GRCm39) missense probably benign 0.10
R6730:Or4k47 UTSW 2 111,452,080 (GRCm39) missense probably damaging 0.96
R7189:Or4k47 UTSW 2 111,451,538 (GRCm39) missense probably benign 0.03
R7193:Or4k47 UTSW 2 111,451,600 (GRCm39) missense probably damaging 1.00
R7199:Or4k47 UTSW 2 111,451,538 (GRCm39) missense probably benign 0.01
R7735:Or4k47 UTSW 2 111,451,819 (GRCm39) missense probably damaging 1.00
R8017:Or4k47 UTSW 2 111,452,412 (GRCm39) missense probably benign 0.00
R8019:Or4k47 UTSW 2 111,452,412 (GRCm39) missense probably benign 0.00
R8285:Or4k47 UTSW 2 111,452,390 (GRCm39) missense probably benign 0.32
R8419:Or4k47 UTSW 2 111,451,849 (GRCm39) missense probably benign 0.10
R9258:Or4k47 UTSW 2 111,452,329 (GRCm39) missense possibly damaging 0.77
X0063:Or4k47 UTSW 2 111,451,726 (GRCm39) missense probably benign 0.04
Z1176:Or4k47 UTSW 2 111,451,606 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCAGTGCATGTGGACAGAG -3'
(R):5'- ATGGAGACAATCAGACTGTTGTGTCAG -3'

Sequencing Primer
(F):5'- CTAGCTTGATTACCAGGGGC -3'
(R):5'- CAGAATTTGTACTCTTGGGACTTTC -3'
Posted On 2013-07-11