Incidental Mutation 'R7268:Or52ac1'
ID 565077
Institutional Source Beutler Lab
Gene Symbol Or52ac1
Ensembl Gene ENSMUSG00000051182
Gene Name olfactory receptor family 52 subfamily AC member 1
Synonyms GA_x6K02T2PBJ9-7224628-7223702, Olfr655, MOR38-1
MMRRC Submission 045319-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R7268 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 104245460-104246386 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 104246284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 35 (L35F)
Ref Sequence ENSEMBL: ENSMUSP00000150891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057385] [ENSMUST00000215538] [ENSMUST00000216750]
AlphaFold E9Q252
Predicted Effect probably benign
Transcript: ENSMUST00000057385
AA Change: L35F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054108
Gene: ENSMUSG00000051182
AA Change: L35F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.4e-95 PFAM
Pfam:7TM_GPCR_Srsx 35 305 5e-10 PFAM
Pfam:7tm_1 41 291 1.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215538
AA Change: L35F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216750
AA Change: L35F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (72/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,461,509 (GRCm39) probably null Het
Acsf3 A G 8: 123,517,401 (GRCm39) Y399C probably benign Het
Acsm5 A T 7: 119,136,511 (GRCm39) T361S probably benign Het
Agap1 T G 1: 89,694,070 (GRCm39) I456S probably benign Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Alb T A 5: 90,610,575 (GRCm39) S52T probably benign Het
Ankle1 A G 8: 71,860,189 (GRCm39) T256A probably damaging Het
Armt1 G A 10: 4,400,855 (GRCm39) V201M possibly damaging Het
Atp2a2 T C 5: 122,605,792 (GRCm39) T388A probably benign Het
Atp6v0a2 T C 5: 124,796,930 (GRCm39) L770P probably damaging Het
B4galnt3 A T 6: 120,192,003 (GRCm39) W578R possibly damaging Het
Babam2 T C 5: 31,859,197 (GRCm39) S2P probably damaging Het
Baz2a A G 10: 127,960,090 (GRCm39) H1459R possibly damaging Het
Bbs7 C T 3: 36,658,575 (GRCm39) R233Q probably benign Het
Cacna2d1 G A 5: 16,575,586 (GRCm39) G1076R probably damaging Het
Camsap2 C T 1: 136,201,483 (GRCm39) probably null Het
Car10 A G 11: 93,490,077 (GRCm39) N273D probably benign Het
Ccdc66 T C 14: 27,208,880 (GRCm39) D458G probably benign Het
Ccdc7a T A 8: 129,607,633 (GRCm39) H982L possibly damaging Het
Col9a1 A G 1: 24,246,479 (GRCm39) K386E possibly damaging Het
Ctcfl A G 2: 172,949,588 (GRCm39) I415T probably benign Het
Cyp3a16 G C 5: 145,404,280 (GRCm39) Y54* probably null Het
Dact2 T C 17: 14,416,797 (GRCm39) T468A probably benign Het
Dgkb T A 12: 38,197,554 (GRCm39) L355* probably null Het
Dhx40 A T 11: 86,697,442 (GRCm39) C42S possibly damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dop1a G T 9: 86,394,830 (GRCm39) E637* probably null Het
Dpp4 G T 2: 62,178,186 (GRCm39) P649T probably damaging Het
Eri3 T A 4: 117,506,580 (GRCm39) I303K probably benign Het
Foxi1 A T 11: 34,155,783 (GRCm39) Y282* probably null Het
Gdi2 T A 13: 3,606,363 (GRCm39) Y146* probably null Het
Gns A G 10: 121,212,557 (GRCm39) Y173C probably damaging Het
Gpc1 C A 1: 92,786,093 (GRCm39) P494Q possibly damaging Het
Habp2 G T 19: 56,302,518 (GRCm39) G274V probably damaging Het
Hcfc2 T A 10: 82,544,846 (GRCm39) Y159* probably null Het
Hmcn2 T A 2: 31,347,978 (GRCm39) S4875T possibly damaging Het
Hmgcs2 A G 3: 98,204,796 (GRCm39) N318S probably benign Het
Lnpep A T 17: 17,758,803 (GRCm39) M847K probably benign Het
Mmp16 A C 4: 18,093,366 (GRCm39) M374L probably benign Het
Mrpl38 A G 11: 116,029,396 (GRCm39) I40T possibly damaging Het
Ncstn T C 1: 171,908,830 (GRCm39) T46A possibly damaging Het
Nlrp1a C T 11: 71,015,068 (GRCm39) V61I probably benign Het
Npas2 G T 1: 39,326,658 (GRCm39) V48L probably damaging Het
Or13p5 A G 4: 118,592,605 (GRCm39) Y293C probably damaging Het
Or6c6 C T 10: 129,187,263 (GRCm39) T277I possibly damaging Het
Pcyox1 A T 6: 86,368,713 (GRCm39) N268K possibly damaging Het
Pramel14 A T 4: 143,720,090 (GRCm39) probably null Het
Prr27 T C 5: 87,991,135 (GRCm39) L249P probably damaging Het
Psat1 A T 19: 15,894,508 (GRCm39) V168D probably damaging Het
Psg17 G T 7: 18,548,586 (GRCm39) T395K possibly damaging Het
Ptgis A G 2: 167,048,676 (GRCm39) Y447H probably benign Het
Rad50 T A 11: 53,575,102 (GRCm39) N607I probably benign Het
Rps6ka2 T C 17: 7,562,662 (GRCm39) Y602H possibly damaging Het
Senp6 G A 9: 80,049,406 (GRCm39) R1010H probably damaging Het
Slc8a3 C A 12: 81,361,827 (GRCm39) D331Y probably damaging Het
Slc9c1 G A 16: 45,370,479 (GRCm39) S240N probably damaging Het
Slf1 A G 13: 77,214,826 (GRCm39) L620P probably damaging Het
Snx19 A G 9: 30,351,473 (GRCm39) E847G probably damaging Het
Spaca6 T C 17: 18,052,369 (GRCm39) V103A probably benign Het
Tbk1 A G 10: 121,388,404 (GRCm39) Y591H probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tfap2a G A 13: 40,882,236 (GRCm39) T15I possibly damaging Het
Tgm2 G A 2: 157,962,188 (GRCm39) R544* probably null Het
Tmem116 T A 5: 121,605,918 (GRCm39) I90K Het
Tmem30c A C 16: 57,086,777 (GRCm39) L342R probably damaging Het
Trpm6 C T 19: 18,755,949 (GRCm39) T64I probably benign Het
Ttll8 A G 15: 88,819,159 (GRCm39) probably null Het
Vcpip1 A G 1: 9,816,307 (GRCm39) I692T probably damaging Het
Vmn1r169 T G 7: 23,276,853 (GRCm39) F82V probably benign Het
Vmn1r178 G A 7: 23,593,378 (GRCm39) C142Y probably benign Het
Vmn2r16 T A 5: 109,488,331 (GRCm39) Y401* probably null Het
Wdr91 A G 6: 34,869,375 (GRCm39) V383A probably benign Het
Other mutations in Or52ac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02151:Or52ac1 APN 7 104,245,741 (GRCm39) missense probably damaging 1.00
IGL03309:Or52ac1 APN 7 104,246,248 (GRCm39) missense probably benign
R0421:Or52ac1 UTSW 7 104,245,929 (GRCm39) missense probably benign 0.00
R1966:Or52ac1 UTSW 7 104,246,008 (GRCm39) missense probably damaging 1.00
R4452:Or52ac1 UTSW 7 104,245,846 (GRCm39) missense probably damaging 0.98
R4566:Or52ac1 UTSW 7 104,245,823 (GRCm39) nonsense probably null
R5445:Or52ac1 UTSW 7 104,246,028 (GRCm39) missense probably damaging 1.00
R5494:Or52ac1 UTSW 7 104,245,932 (GRCm39) missense probably damaging 0.97
R5838:Or52ac1 UTSW 7 104,246,104 (GRCm39) missense probably benign
R6015:Or52ac1 UTSW 7 104,245,915 (GRCm39) missense probably damaging 1.00
R6928:Or52ac1 UTSW 7 104,245,796 (GRCm39) nonsense probably null
R6996:Or52ac1 UTSW 7 104,246,018 (GRCm39) missense probably benign 0.10
R7250:Or52ac1 UTSW 7 104,245,738 (GRCm39) missense probably damaging 1.00
R8195:Or52ac1 UTSW 7 104,246,133 (GRCm39) missense probably damaging 1.00
R9198:Or52ac1 UTSW 7 104,245,635 (GRCm39) missense probably damaging 1.00
X0027:Or52ac1 UTSW 7 104,246,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTATGACTCGATCATCAAACC -3'
(R):5'- TGGGCTGTGCATTACATGAC -3'

Sequencing Primer
(F):5'- TGACTCGATCATCAAACCAGAAGAGG -3'
(R):5'- GGGCTGTGCATTACATGACTATAAG -3'
Posted On 2019-06-26