Incidental Mutation 'R6038:Or10ag54'
ID 486660
Institutional Source Beutler Lab
Gene Symbol Or10ag54
Ensembl Gene ENSMUSG00000070855
Gene Name olfactory receptor family 10 subfamily AG member 54
Synonyms MOR264-21P, Olfr1116-ps, Olfr1521-ps1, GA_x6K02T2Q125-48753766-48754734, MOR264-8P, Olfr1116
MMRRC Submission 044208-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6038 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87099190-87100113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87099611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 141 (I141N)
Ref Sequence ENSEMBL: ENSMUSP00000132837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090717] [ENSMUST00000121296] [ENSMUST00000216364]
AlphaFold A0A1L1SRZ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000090717
AA Change: I141N

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132837
Gene: ENSMUSG00000070855
AA Change: I141N

DomainStartEndE-ValueType
Pfam:7tm_4 22 298 1.1e-53 PFAM
Pfam:7tm_1 32 281 1.1e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117753
Predicted Effect possibly damaging
Transcript: ENSMUST00000121296
AA Change: I141N

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144143
Gene: ENSMUSG00000083706
AA Change: I141N

DomainStartEndE-ValueType
Pfam:7tm_4 22 298 1.2e-51 PFAM
Pfam:7tm_1 32 281 7.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216364
AA Change: I162N

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (65/65)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,615,286 (GRCm39) C1327R probably damaging Het
Adcy7 A G 8: 89,049,608 (GRCm39) T704A probably benign Het
Adgra3 A T 5: 50,156,487 (GRCm39) Y414* probably null Het
Adgrf1 T C 17: 43,606,100 (GRCm39) S75P probably benign Het
Akirin1 A G 4: 123,643,956 (GRCm39) M1T probably null Het
Antxr1 C A 6: 87,263,982 (GRCm39) probably null Het
Arid1b A T 17: 5,386,957 (GRCm39) Y1470F probably benign Het
Baiap3 T C 17: 25,465,308 (GRCm39) D649G probably damaging Het
Cabin1 A G 10: 75,575,200 (GRCm39) V615A probably benign Het
Cntnap1 G A 11: 101,075,462 (GRCm39) R880Q probably benign Het
Col28a1 T C 6: 8,013,140 (GRCm39) T971A probably benign Het
Coro7 A T 16: 4,497,414 (GRCm39) probably null Het
Cspg4b G A 13: 113,455,153 (GRCm39) V400M possibly damaging Het
Defb19 T G 2: 152,418,187 (GRCm39) probably null Het
Dnah17 T C 11: 117,946,715 (GRCm39) D3045G probably benign Het
Dock4 A T 12: 40,783,350 (GRCm39) probably null Het
Egln3 A G 12: 54,228,476 (GRCm39) V210A probably damaging Het
Epb41l4a T C 18: 33,987,388 (GRCm39) S330G probably benign Het
Epha7 G A 4: 28,821,521 (GRCm39) E229K probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Garin4 C T 1: 190,894,919 (GRCm39) E575K probably damaging Het
Garin5a C T 7: 44,149,719 (GRCm39) R147W probably damaging Het
Garin5b T C 7: 4,756,594 (GRCm39) probably null Het
Gm29587 G A 12: 74,269,309 (GRCm39) probably null Het
Gxylt2 T A 6: 100,781,555 (GRCm39) L410Q probably damaging Het
H2-M10.3 C A 17: 36,679,287 (GRCm39) C6F probably benign Het
Hecw1 G T 13: 14,520,647 (GRCm39) Q197K probably benign Het
Hk3 T C 13: 55,154,373 (GRCm39) M778V probably benign Het
Hydin A G 8: 111,325,663 (GRCm39) T4691A probably benign Het
Larp1 A G 11: 57,932,431 (GRCm39) E204G possibly damaging Het
Lrp12 A C 15: 39,735,776 (GRCm39) W738G probably damaging Het
Mdga2 A T 12: 66,676,827 (GRCm39) D488E probably damaging Het
Mrc1 G C 2: 14,261,882 (GRCm39) W290C probably damaging Het
Mtrex A T 13: 113,027,824 (GRCm39) S679T probably benign Het
Nhp2 T C 11: 51,510,912 (GRCm39) V55A probably benign Het
Nrm T C 17: 36,172,397 (GRCm39) S41P possibly damaging Het
Or11g25 T C 14: 50,723,677 (GRCm39) L254P probably damaging Het
Or7e165 A G 9: 19,694,858 (GRCm39) Y143C probably benign Het
Osbpl7 C T 11: 96,941,542 (GRCm39) P22S probably benign Het
Pebp1 A T 5: 117,422,170 (GRCm39) L124Q probably benign Het
Pfkp G T 13: 6,648,005 (GRCm39) H524N probably benign Het
Pnmt G A 11: 98,278,594 (GRCm39) D187N probably damaging Het
Ppl A T 16: 4,920,445 (GRCm39) I355K possibly damaging Het
Prom1 A T 5: 44,159,135 (GRCm39) Y836N probably damaging Het
Rubcnl T C 14: 75,269,410 (GRCm39) S23P probably benign Het
Sap130 T A 18: 31,813,539 (GRCm39) I532N probably damaging Het
Serpina1e A T 12: 103,913,095 (GRCm39) probably null Het
Slc12a3 T G 8: 95,057,100 (GRCm39) S124R probably benign Het
Slc24a5 A G 2: 124,927,651 (GRCm39) T317A probably benign Het
Smarcad1 T C 6: 65,050,232 (GRCm39) S284P possibly damaging Het
Spag9 C G 11: 94,002,918 (GRCm39) R724G probably damaging Het
Speg T C 1: 75,395,103 (GRCm39) probably null Het
Steap3 A G 1: 120,169,371 (GRCm39) Y271H probably damaging Het
Syne2 C T 12: 75,925,158 (GRCm39) Q44* probably null Het
Tas2r114 A T 6: 131,666,444 (GRCm39) C195S possibly damaging Het
Tcl1b4 T C 12: 105,168,766 (GRCm39) M10T possibly damaging Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Vmn2r60 C A 7: 41,844,386 (GRCm39) A583D probably benign Het
Wdhd1 T C 14: 47,501,037 (GRCm39) Q455R possibly damaging Het
Wdr17 A G 8: 55,085,346 (GRCm39) probably null Het
Xbp1 T C 11: 5,474,798 (GRCm39) L233P probably benign Het
Zbtb17 A G 4: 141,191,752 (GRCm39) E288G probably benign Het
Other mutations in Or10ag54
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5427:Or10ag54 UTSW 2 87,099,858 (GRCm39) missense probably benign 0.04
R5557:Or10ag54 UTSW 2 87,099,736 (GRCm39) missense possibly damaging 0.95
R6038:Or10ag54 UTSW 2 87,099,611 (GRCm39) missense possibly damaging 0.80
R7536:Or10ag54 UTSW 2 87,099,943 (GRCm39) nonsense probably null
R7891:Or10ag54 UTSW 2 87,099,421 (GRCm39) missense possibly damaging 0.84
R8230:Or10ag54 UTSW 2 87,099,545 (GRCm39) missense probably benign 0.03
R8832:Or10ag54 UTSW 2 87,099,743 (GRCm39) missense probably benign 0.02
R9004:Or10ag54 UTSW 2 87,099,695 (GRCm39) missense possibly damaging 0.54
R9200:Or10ag54 UTSW 2 87,100,055 (GRCm39) missense probably benign 0.02
R9267:Or10ag54 UTSW 2 87,099,326 (GRCm39) missense possibly damaging 0.95
R9318:Or10ag54 UTSW 2 87,099,271 (GRCm39) missense possibly damaging 0.92
Z1088:Or10ag54 UTSW 2 87,099,919 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAACTGACCCTGCTCTCCAG -3'
(R):5'- AAAGCCTTGGCCATCCCTTTG -3'

Sequencing Primer
(F):5'- GTAACAGCTACTATTCCAAGAATGC -3'
(R):5'- CCATCCCTTTGGCTGAAGATAG -3'
Posted On 2017-08-16