Incidental Mutation 'R5193:Or51a7'
ID 399839
Institutional Source Beutler Lab
Gene Symbol Or51a7
Ensembl Gene ENSMUSG00000073962
Gene Name olfactory receptor family 51 subfamily A member 7
Synonyms GA_x6K02T2PBJ9-5676385-5677371, MOR8-5, Olfr576
MMRRC Submission 042769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R5193 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102614309-102615247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102615143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 279 (F279I)
Ref Sequence ENSEMBL: ENSMUSP00000143172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098213] [ENSMUST00000185326]
AlphaFold A0A0G2JFH3
Predicted Effect possibly damaging
Transcript: ENSMUST00000098213
AA Change: F279I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143172
Gene: ENSMUSG00000073962
AA Change: F279I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 301 6.2e-12 PFAM
Pfam:7tm_1 41 291 2.5e-29 PFAM
Pfam:7tm_4 140 284 3.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185326
AA Change: F279I

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962
AA Change: F279I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 300 9.7e-12 PFAM
Pfam:7tm_1 41 291 1.8e-29 PFAM
Pfam:7tm_4 140 284 2.6e-28 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A T 2: 150,677,226 (GRCm39) *56R probably null Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgap3 C T 15: 83,216,898 (GRCm39) A156T probably benign Het
Bpifc T C 10: 85,836,497 (GRCm39) T3A probably benign Het
Ccdc7a T A 8: 129,715,278 (GRCm39) I269L probably benign Het
Cd151 A G 7: 141,050,606 (GRCm39) Y253C probably damaging Het
Cenpl C A 1: 160,911,037 (GRCm39) S328* probably null Het
Cfl1 T A 19: 5,542,580 (GRCm39) V20D probably damaging Het
Clec14a A G 12: 58,315,400 (GRCm39) L74P probably damaging Het
Cnn1 A T 9: 22,019,132 (GRCm39) D196V probably damaging Het
Cst13 C A 2: 148,670,143 (GRCm39) C104* probably null Het
Det1 A G 7: 78,493,302 (GRCm39) V234A probably damaging Het
Efnb2 A G 8: 8,673,162 (GRCm39) M165T probably damaging Het
Fbxo10 T A 4: 45,051,573 (GRCm39) K339* probably null Het
Fnta A T 8: 26,501,246 (GRCm39) probably null Het
Fsip2 A T 2: 82,813,338 (GRCm39) Y3219F possibly damaging Het
Gprin2 C T 14: 33,916,832 (GRCm39) V313M possibly damaging Het
Hars1 A G 18: 36,900,358 (GRCm39) L448S possibly damaging Het
Hipk3 A G 2: 104,260,345 (GRCm39) I1166T possibly damaging Het
Il31ra T C 13: 112,660,864 (GRCm39) E602G probably benign Het
Kctd15 A G 7: 34,344,282 (GRCm39) L123P probably damaging Het
Kifbp T C 10: 62,395,175 (GRCm39) D489G possibly damaging Het
Krt1 C A 15: 101,754,357 (GRCm39) S631I unknown Het
Lancl1 T A 1: 67,060,173 (GRCm39) Y84F probably benign Het
Lcor A G 19: 41,570,969 (GRCm39) D54G probably damaging Het
Mafa G T 15: 75,619,666 (GRCm39) P36T unknown Het
Magi2 G A 5: 20,563,970 (GRCm39) probably null Het
Mcm9 T A 10: 53,492,134 (GRCm39) I396F probably damaging Het
Mrgprh T C 17: 13,095,942 (GRCm39) F61L probably damaging Het
Or10g1b A G 14: 52,628,069 (GRCm39) W54R probably benign Het
Or1e16 TAGCGGTCGTA T 11: 73,286,479 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5w17 A T 2: 87,583,448 (GRCm39) D296E possibly damaging Het
Pcsk5 T A 19: 17,542,174 (GRCm39) T806S possibly damaging Het
Pigc T C 1: 161,798,465 (GRCm39) I149T possibly damaging Het
Pou5f2 C A 13: 78,173,083 (GRCm39) N8K probably benign Het
Pou6f2 T C 13: 18,300,129 (GRCm39) probably benign Het
Prl3d2 T A 13: 27,306,312 (GRCm39) M13K possibly damaging Het
Pzp T C 6: 128,479,297 (GRCm39) N619D probably benign Het
Rnps1 G A 17: 24,637,517 (GRCm39) S53N probably benign Het
Scaf8 C G 17: 3,240,440 (GRCm39) A604G probably benign Het
Scn10a T C 9: 119,438,721 (GRCm39) N1716S probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc34a1 A G 13: 24,003,845 (GRCm39) probably null Het
Syne2 A G 12: 76,141,194 (GRCm39) D6102G probably damaging Het
Tbc1d16 A T 11: 119,049,646 (GRCm39) D283E probably benign Het
Tet1 T C 10: 62,674,026 (GRCm39) D1350G probably benign Het
Trpa1 A G 1: 14,946,141 (GRCm39) Y997H possibly damaging Het
Tyro3 T C 2: 119,640,998 (GRCm39) L494P probably damaging Het
Uba6 G T 5: 86,272,281 (GRCm39) Q803K probably benign Het
Vgll2 T A 10: 51,904,088 (GRCm39) L317Q possibly damaging Het
Wdr62 A T 7: 29,964,592 (GRCm39) I384N probably damaging Het
Wdtc1 G A 4: 133,021,678 (GRCm39) R619* probably null Het
Xkr6 A G 14: 64,056,356 (GRCm39) D89G possibly damaging Het
Other mutations in Or51a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Or51a7 APN 7 102,615,235 (GRCm39) splice site probably benign
IGL01695:Or51a7 APN 7 102,614,790 (GRCm39) missense probably damaging 0.97
IGL01707:Or51a7 APN 7 102,615,126 (GRCm39) missense probably damaging 0.97
IGL02637:Or51a7 APN 7 102,622,250 (GRCm39) utr 3 prime probably benign
R1636:Or51a7 UTSW 7 102,614,898 (GRCm39) missense possibly damaging 0.94
R3077:Or51a7 UTSW 7 102,615,223 (GRCm39) missense probably benign 0.06
R3079:Or51a7 UTSW 7 102,622,254 (GRCm39) splice site probably null
R3803:Or51a7 UTSW 7 102,615,228 (GRCm39) critical splice donor site probably null
R4342:Or51a7 UTSW 7 102,615,231 (GRCm39) missense probably benign 0.03
R4866:Or51a7 UTSW 7 102,614,927 (GRCm39) missense probably benign 0.01
R5194:Or51a7 UTSW 7 102,615,071 (GRCm39) missense probably benign 0.01
R9002:Or51a7 UTSW 7 102,614,618 (GRCm39) missense probably damaging 1.00
R9590:Or51a7 UTSW 7 102,614,553 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- ATGCTGGACTTTGCCTTGATTC -3'
(R):5'- ACCATGATGCTGAGCACAG -3'

Sequencing Primer
(F):5'- GCTGATCTTGAAGACAGTTCTCAG -3'
(R):5'- GTGAGTCCTTATCTCACAC -3'
Posted On 2016-07-06