Incidental Mutation 'R4778:Or5p60'
ID 368087
Institutional Source Beutler Lab
Gene Symbol Or5p60
Ensembl Gene ENSMUSG00000110171
Gene Name olfactory receptor family 5 subfamily P member 60
Synonyms GA_x6K02T2PBJ9-10454128-10453163, MOR204-16, Olfr484
MMRRC Submission 042414-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R4778 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 107723503-107724468 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107723687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 261 (I261N)
Ref Sequence ENSEMBL: ENSMUSP00000150774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000210881] [ENSMUST00000214722]
AlphaFold Q8VFD3
Predicted Effect possibly damaging
Transcript: ENSMUST00000073580
AA Change: I261N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073267
Gene: ENSMUSG00000059996
AA Change: I261N

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 2.5e-53 PFAM
Pfam:7tm_1 44 293 4.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157612
Predicted Effect possibly damaging
Transcript: ENSMUST00000210881
AA Change: I261N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214722
AA Change: I261N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.5570 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,615,342 (GRCm39) N1349S probably damaging Het
Ahnak T C 19: 8,989,339 (GRCm39) V3541A possibly damaging Het
Arhgap33 T A 7: 30,231,518 (GRCm39) T156S probably benign Het
Bltp1 T A 3: 36,991,214 (GRCm39) M897K possibly damaging Het
Card11 G T 5: 140,869,537 (GRCm39) probably null Het
Cdh3 T A 8: 107,270,458 (GRCm39) I445N probably damaging Het
Csrp3 T G 7: 48,482,311 (GRCm39) K169N probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Czib T C 4: 107,749,195 (GRCm39) V64A probably damaging Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Erc1 A T 6: 119,774,298 (GRCm39) probably null Het
Fat1 T C 8: 45,491,363 (GRCm39) V3808A probably benign Het
Fbxw19 T C 9: 109,323,714 (GRCm39) D87G probably damaging Het
Gm1123 T C 9: 98,900,560 (GRCm39) I99V probably benign Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Hand1 T C 11: 57,722,449 (GRCm39) D55G possibly damaging Het
Lrguk T A 6: 34,033,015 (GRCm39) I227K probably damaging Het
Mdn1 C T 4: 32,683,583 (GRCm39) R726* probably null Het
Minar1 T A 9: 89,485,155 (GRCm39) I81F probably damaging Het
Myo16 T A 8: 10,619,694 (GRCm39) V1415E probably damaging Het
Myof T C 19: 37,938,011 (GRCm39) D901G probably damaging Het
Naip1 A G 13: 100,563,156 (GRCm39) Y670H probably damaging Het
Nmd3 T A 3: 69,638,924 (GRCm39) Y171* probably null Het
Notch4 C T 17: 34,801,485 (GRCm39) A1111V possibly damaging Het
Nphp4 T A 4: 152,640,748 (GRCm39) D1038E probably benign Het
Or2ag1b A C 7: 106,288,874 (GRCm39) S21R probably damaging Het
Osbpl10 C T 9: 114,938,598 (GRCm39) S86L probably damaging Het
Pcsk6 G A 7: 65,608,893 (GRCm39) G252R probably damaging Het
Pole T G 5: 110,478,698 (GRCm39) H15Q probably benign Het
Pstpip1 A G 9: 56,035,904 (GRCm39) D383G possibly damaging Het
Ptprq T C 10: 107,426,883 (GRCm39) T1551A probably benign Het
Rasgrf2 A G 13: 92,131,780 (GRCm39) F626L probably damaging Het
Retreg1 C A 15: 25,971,871 (GRCm39) N394K possibly damaging Het
Rpl7-ps8 T A 15: 59,083,252 (GRCm39) noncoding transcript Het
Rpp14 T A 14: 8,090,203 (GRCm38) D42E probably benign Het
Rrp8 T A 7: 105,386,481 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Snx1 T C 9: 66,008,698 (GRCm39) probably benign Het
Stau1 A T 2: 166,805,442 (GRCm39) N51K probably benign Het
Tdrd5 T A 1: 156,083,157 (GRCm39) D960V probably damaging Het
Tex10 T C 4: 48,436,468 (GRCm39) D750G probably damaging Het
Tmem43 T C 6: 91,459,237 (GRCm39) V236A probably damaging Het
Tmem89 T C 9: 108,744,443 (GRCm39) V112A probably damaging Het
Traf7 C G 17: 24,729,412 (GRCm39) probably benign Het
Vmn1r41 A C 6: 89,724,257 (GRCm39) K266T probably damaging Het
Vmn2r65 T C 7: 84,592,801 (GRCm39) K469E possibly damaging Het
Zfp831 A G 2: 174,488,600 (GRCm39) T1092A possibly damaging Het
Zfp981 T A 4: 146,622,112 (GRCm39) S346T probably benign Het
Other mutations in Or5p60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01879:Or5p60 APN 7 107,724,371 (GRCm39) missense possibly damaging 0.88
IGL01899:Or5p60 APN 7 107,724,048 (GRCm39) missense probably benign 0.01
IGL02124:Or5p60 APN 7 107,724,249 (GRCm39) missense probably benign 0.01
IGL02622:Or5p60 APN 7 107,723,595 (GRCm39) missense probably damaging 1.00
IGL03188:Or5p60 APN 7 107,723,841 (GRCm39) missense probably benign 0.00
R0389:Or5p60 UTSW 7 107,724,023 (GRCm39) missense probably benign 0.00
R0443:Or5p60 UTSW 7 107,724,023 (GRCm39) missense probably benign 0.00
R0731:Or5p60 UTSW 7 107,723,941 (GRCm39) missense probably benign 0.12
R1061:Or5p60 UTSW 7 107,723,663 (GRCm39) missense probably damaging 1.00
R1505:Or5p60 UTSW 7 107,724,200 (GRCm39) missense probably benign 0.00
R1591:Or5p60 UTSW 7 107,723,571 (GRCm39) missense possibly damaging 0.56
R1789:Or5p60 UTSW 7 107,724,122 (GRCm39) missense probably benign 0.44
R2988:Or5p60 UTSW 7 107,724,045 (GRCm39) nonsense probably null
R5288:Or5p60 UTSW 7 107,724,375 (GRCm39) missense probably benign 0.00
R5644:Or5p60 UTSW 7 107,723,858 (GRCm39) missense probably benign 0.04
R6112:Or5p60 UTSW 7 107,724,369 (GRCm39) missense probably benign 0.01
R6351:Or5p60 UTSW 7 107,723,637 (GRCm39) missense probably damaging 1.00
R6934:Or5p60 UTSW 7 107,724,026 (GRCm39) missense probably benign 0.14
R7094:Or5p60 UTSW 7 107,723,840 (GRCm39) missense probably benign 0.35
R7135:Or5p60 UTSW 7 107,723,781 (GRCm39) missense probably damaging 0.99
R7422:Or5p60 UTSW 7 107,724,068 (GRCm39) missense probably damaging 1.00
R7660:Or5p60 UTSW 7 107,724,041 (GRCm39) missense probably benign 0.04
R7916:Or5p60 UTSW 7 107,724,329 (GRCm39) missense possibly damaging 0.59
R8489:Or5p60 UTSW 7 107,724,372 (GRCm39) missense probably benign 0.03
R9204:Or5p60 UTSW 7 107,723,935 (GRCm39) missense possibly damaging 0.75
R9526:Or5p60 UTSW 7 107,723,801 (GRCm39) missense probably benign 0.06
X0021:Or5p60 UTSW 7 107,724,314 (GRCm39) missense probably damaging 1.00
X0025:Or5p60 UTSW 7 107,723,606 (GRCm39) nonsense probably null
Z1176:Or5p60 UTSW 7 107,724,086 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCCCACTGTCTTGAGTAATTGTC -3'
(R):5'- GCTCTCCTGTTCTGATGTCAGG -3'

Sequencing Primer
(F):5'- AGAGCCCCCTTAATCTCA -3'
(R):5'- ATGTCAGGATCTCTGTACTTGTTAC -3'
Posted On 2015-12-29