Incidental Mutation 'R6565:Or51a5'
ID 522623
Institutional Source Beutler Lab
Gene Symbol Or51a5
Ensembl Gene ENSMUSG00000066268
Gene Name olfactory receptor family 51 subfamily A member 5
Synonyms MOR8-7, MOR8-2, GA_x6K02T2PBJ9-5836380-5835439, Olfr586
MMRRC Submission 044689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R6565 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102771036-102771989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102771445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 178 (H178R)
Ref Sequence ENSEMBL: ENSMUSP00000149226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084811] [ENSMUST00000211075] [ENSMUST00000213281] [ENSMUST00000215304]
AlphaFold Q8VH13
Predicted Effect probably damaging
Transcript: ENSMUST00000084811
AA Change: H182R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081872
Gene: ENSMUSG00000066268
AA Change: H182R

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 6.1e-111 PFAM
Pfam:7TM_GPCR_Srsx 41 312 1.6e-11 PFAM
Pfam:7tm_1 47 297 1.7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211075
AA Change: H178R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000213281
AA Change: H178R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215304
AA Change: H178R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg C A 15: 60,792,659 (GRCm39) C96F probably damaging Het
Abca7 C T 10: 79,847,622 (GRCm39) P1764L probably damaging Het
Acvr1 G A 2: 58,369,769 (GRCm39) T80M probably damaging Het
Adgrb2 T C 4: 129,913,069 (GRCm39) L1398P probably damaging Het
B4galnt3 G A 6: 120,194,440 (GRCm39) Q362* probably null Het
Cadm3 G T 1: 173,169,276 (GRCm39) Q246K possibly damaging Het
Cdc14b T C 13: 64,373,444 (GRCm39) T110A probably benign Het
Cyp2c55 A C 19: 39,030,566 (GRCm39) D466A probably benign Het
Dmrtb1 T C 4: 107,536,542 (GRCm39) Y308C probably damaging Het
Fat3 T C 9: 15,826,623 (GRCm39) D4443G probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Grin2d A G 7: 45,484,179 (GRCm39) L772P probably damaging Het
Gsdme T C 6: 50,206,429 (GRCm39) N138S probably damaging Het
Hmgb4 T A 4: 128,154,388 (GRCm39) Y60F probably benign Het
Ift172 G A 5: 31,433,227 (GRCm39) A554V possibly damaging Het
Iigp1 T A 18: 60,523,839 (GRCm39) V319E probably damaging Het
Kit A G 5: 75,806,513 (GRCm39) T673A probably damaging Het
Lilra6 A T 7: 3,918,019 (GRCm39) W42R probably benign Het
Mia3 A T 1: 183,112,340 (GRCm39) H477Q probably damaging Het
Oas1b C A 5: 120,952,611 (GRCm39) Q101K possibly damaging Het
Or2v1 A G 11: 49,025,639 (GRCm39) M207V probably damaging Het
Plcl1 T A 1: 55,737,117 (GRCm39) C819* probably null Het
Pmfbp1 C T 8: 110,252,060 (GRCm39) Q402* probably null Het
Rps19bp1 CCTTCTTCTTCTTCTTCTTCTT CCTTCTTCTTCTTCTTCTT 15: 80,145,250 (GRCm39) probably benign Het
Skor2 C G 18: 76,947,607 (GRCm39) A443G possibly damaging Het
Tapbpl A G 6: 125,205,307 (GRCm39) V213A probably benign Het
Trim52 G A 14: 106,344,653 (GRCm39) D104N probably damaging Het
Other mutations in Or51a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02708:Or51a5 APN 7 102,771,027 (GRCm39) utr 3 prime probably benign
R0502:Or51a5 UTSW 7 102,771,643 (GRCm39) missense possibly damaging 0.94
R0503:Or51a5 UTSW 7 102,771,643 (GRCm39) missense possibly damaging 0.94
R0508:Or51a5 UTSW 7 102,771,193 (GRCm39) missense possibly damaging 0.93
R0882:Or51a5 UTSW 7 102,771,782 (GRCm39) missense probably benign 0.09
R0962:Or51a5 UTSW 7 102,771,217 (GRCm39) missense possibly damaging 0.50
R1112:Or51a5 UTSW 7 102,771,611 (GRCm39) missense probably damaging 1.00
R2226:Or51a5 UTSW 7 102,771,115 (GRCm39) missense probably benign 0.06
R4285:Or51a5 UTSW 7 102,771,867 (GRCm39) nonsense probably null
R5817:Or51a5 UTSW 7 102,771,115 (GRCm39) missense possibly damaging 0.94
R6342:Or51a5 UTSW 7 102,771,563 (GRCm39) missense probably damaging 0.99
R6380:Or51a5 UTSW 7 102,771,136 (GRCm39) missense probably benign 0.02
R7861:Or51a5 UTSW 7 102,771,899 (GRCm39) missense probably benign 0.03
R7921:Or51a5 UTSW 7 102,771,635 (GRCm39) missense probably damaging 0.99
RF020:Or51a5 UTSW 7 102,771,098 (GRCm39) missense probably benign 0.05
Z1177:Or51a5 UTSW 7 102,771,598 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAGTACTGAGGACCTTGAGTC -3'
(R):5'- CTCAGCTATGGAGTCATCTGTG -3'

Sequencing Primer
(F):5'- AAGTACTGAGGACCTTGAGTCTTTCC -3'
(R):5'- AGCTATGGAGTCATCTGTGCTTCTC -3'
Posted On 2018-06-06