Incidental Mutation 'R4456:Or51a42'
ID 329189
Institutional Source Beutler Lab
Gene Symbol Or51a42
Ensembl Gene ENSMUSG00000109824
Gene Name olfactory receptor family 51 subfamily A member 42
Synonyms MOR13-2, Olfr643, GA_x6K02T2PBJ9-6793628-6792684
MMRRC Submission 041716-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4456 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103707863-103708807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103708507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 101 (S101P)
Ref Sequence ENSEMBL: ENSMUSP00000150133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074064] [ENSMUST00000138055] [ENSMUST00000217217]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000074064
AA Change: S101P

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
AA Change: S101P

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2.6e-124 PFAM
Pfam:7TM_GPCR_Srsx 37 255 3.1e-7 PFAM
Pfam:7tm_1 43 294 3.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000217217
AA Change: S101P

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 93% (42/45)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,833,071 (GRCm39) F1210L probably benign Het
Amfr C T 8: 94,711,568 (GRCm39) A323T possibly damaging Het
Apob T A 12: 8,065,445 (GRCm39) I4105N probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Cdc42ep1 A G 15: 78,734,091 (GRCm39) E397G possibly damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Dnmt1 T C 9: 20,821,138 (GRCm39) T1250A probably damaging Het
Dst A T 1: 34,229,800 (GRCm39) K2642N probably benign Het
Emcn A T 3: 137,085,608 (GRCm39) K69* probably null Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fbxo38 G T 18: 62,659,320 (GRCm39) R326S probably damaging Het
Fcer1g A G 1: 171,061,808 (GRCm39) S3P probably benign Het
Glp1r G T 17: 31,137,949 (GRCm39) E127* probably null Het
Gnmt G T 17: 47,039,910 (GRCm39) H56Q probably benign Het
Hectd4 C T 5: 121,446,334 (GRCm39) T1513I possibly damaging Het
Hsd3b1 G A 3: 98,763,459 (GRCm39) T48I probably benign Het
Kmt2c A T 5: 25,515,210 (GRCm39) C2878S probably benign Het
Loxhd1 A G 18: 77,486,785 (GRCm39) Y1290C probably damaging Het
Mkln1 A G 6: 31,403,707 (GRCm39) Y76C probably damaging Het
Mri1 C A 8: 84,983,035 (GRCm39) A129S probably benign Het
Mroh2b A T 15: 4,977,407 (GRCm39) H1253L probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mthfsd C T 8: 121,832,504 (GRCm39) V63I possibly damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Nbea A G 3: 55,551,205 (GRCm39) V2653A probably benign Het
Nckap5 A T 1: 125,842,472 (GRCm39) probably benign Het
Notch4 G A 17: 34,802,807 (GRCm39) V1378M probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rasl12 A G 9: 65,305,866 (GRCm39) K7R probably null Het
Rnf4 A G 5: 34,508,705 (GRCm39) Y189C probably benign Het
Shroom3 A G 5: 93,088,858 (GRCm39) H536R probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Tbc1d5 A C 17: 51,089,369 (GRCm39) S604A probably damaging Het
Tcp11l1 A T 2: 104,514,567 (GRCm39) V400E probably damaging Het
Tom1l2 G T 11: 60,243,641 (GRCm39) probably benign Het
Ttc28 AC A 5: 111,371,924 (GRCm39) probably null Het
Txndc15 A G 13: 55,865,977 (GRCm39) D147G possibly damaging Het
Other mutations in Or51a42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Or51a42 APN 7 103,708,623 (GRCm39) missense probably damaging 1.00
IGL00958:Or51a42 APN 7 103,708,620 (GRCm39) missense probably benign 0.14
IGL02319:Or51a42 APN 7 103,708,140 (GRCm39) missense probably damaging 1.00
IGL03184:Or51a42 APN 7 103,708,054 (GRCm39) missense probably damaging 0.97
R0254:Or51a42 UTSW 7 103,708,728 (GRCm39) missense probably benign 0.00
R0850:Or51a42 UTSW 7 103,708,252 (GRCm39) missense probably benign
R1443:Or51a42 UTSW 7 103,707,930 (GRCm39) missense probably damaging 1.00
R1544:Or51a42 UTSW 7 103,708,431 (GRCm39) missense probably damaging 0.99
R1669:Or51a42 UTSW 7 103,708,516 (GRCm39) missense probably benign 0.32
R1990:Or51a42 UTSW 7 103,708,335 (GRCm39) missense possibly damaging 0.96
R2207:Or51a42 UTSW 7 103,708,612 (GRCm39) missense probably damaging 1.00
R4719:Or51a42 UTSW 7 103,707,940 (GRCm39) missense probably damaging 1.00
R5519:Or51a42 UTSW 7 103,708,504 (GRCm39) nonsense probably null
Z1088:Or51a42 UTSW 7 103,708,523 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- AAGCACATTAGCCTTGCAGAAG -3'
(R):5'- GCAATGCCCTGATCCTGTTC -3'

Sequencing Primer
(F):5'- CAACCTCTTCAGAAGGAAAGGTAATG -3'
(R):5'- CTGATCCTGTTCATCATCAAGGAGG -3'
Posted On 2015-07-21