Incidental Mutation 'R4422:Or51l14'
ID 327148
Institutional Source Beutler Lab
Gene Symbol Or51l14
Ensembl Gene ENSMUSG00000073949
Gene Name olfactory receptor family 51 subfamily L member 14
Synonyms Olfr606, GA_x6K02T2PBJ9-6173009-6173968, MOR17-2
MMRRC Submission 041695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R4422 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103100546-103101505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 103101450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 302 (R302L)
Ref Sequence ENSEMBL: ENSMUSP00000151177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098200] [ENSMUST00000214347] [ENSMUST00000214631] [ENSMUST00000217250]
AlphaFold Q8VGZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000098200
AA Change: R302L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095802
Gene: ENSMUSG00000073949
AA Change: R302L

DomainStartEndE-ValueType
low complexity region 4 12 N/A INTRINSIC
Pfam:7tm_4 33 312 7.1e-116 PFAM
Pfam:7TM_GPCR_Srsx 37 307 9e-8 PFAM
Pfam:7tm_1 43 294 7.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214347
Predicted Effect probably damaging
Transcript: ENSMUST00000214631
AA Change: R302L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217250
AA Change: R302L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.6151 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (67/70)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,895,412 (GRCm39) S1168P probably benign Het
Adgrf2 T C 17: 43,024,046 (GRCm39) M142V probably benign Het
Akna G T 4: 63,305,330 (GRCm39) Q479K possibly damaging Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
AW551984 A T 9: 39,511,373 (GRCm39) C111S probably null Het
Bak1 C A 17: 27,240,298 (GRCm39) G130W probably damaging Het
Bank1 T A 3: 135,788,972 (GRCm39) Q441L probably damaging Het
C030034I22Rik T C 17: 69,725,153 (GRCm39) noncoding transcript Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cct7 A G 6: 85,444,127 (GRCm39) R355G probably damaging Het
Cd19 C T 7: 126,012,578 (GRCm39) V272I probably benign Het
Cenpf A G 1: 189,390,547 (GRCm39) L1095S probably damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Chrm3 A T 13: 9,928,591 (GRCm39) Y148* probably null Het
Chrnb3 T C 8: 27,886,761 (GRCm39) V445A possibly damaging Het
Col4a4 T A 1: 82,467,559 (GRCm39) M852L unknown Het
Dhx29 T C 13: 113,083,781 (GRCm39) L612P probably damaging Het
Dlgap2 T C 8: 14,793,463 (GRCm39) probably null Het
Dnah17 T C 11: 117,972,799 (GRCm39) T2045A possibly damaging Het
Dync1li1 A G 9: 114,538,377 (GRCm39) T245A probably damaging Het
Epha4 T C 1: 77,488,354 (GRCm39) E42G probably damaging Het
Fam120b C A 17: 15,622,445 (GRCm39) T141K probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gcnt2 T G 13: 41,014,001 (GRCm39) Y57* probably null Het
Gm5409 C T 6: 41,396,519 (GRCm39) noncoding transcript Het
Hip1r A G 5: 124,135,069 (GRCm39) K402E possibly damaging Het
Hlcs G A 16: 93,939,819 (GRCm39) P506L possibly damaging Het
Itih4 T A 14: 30,611,821 (GRCm39) F142I probably damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lamb2 A G 9: 108,360,754 (GRCm39) D518G probably damaging Het
Ldlr G A 9: 21,649,248 (GRCm39) C341Y probably damaging Het
Lsr G T 7: 30,665,422 (GRCm39) N177K probably benign Het
Macf1 G A 4: 123,359,839 (GRCm39) S1815F probably damaging Het
Mms22l T C 4: 24,503,008 (GRCm39) S95P probably damaging Het
Mon2 A G 10: 122,878,887 (GRCm39) L218P probably damaging Het
Nlrp4f C T 13: 65,332,776 (GRCm39) probably null Het
Nrde2 G A 12: 100,112,286 (GRCm39) Q137* probably null Het
Or12e10 C A 2: 87,640,989 (GRCm39) T275K probably damaging Het
Or6z7 G T 7: 6,484,037 (GRCm39) Y39* probably null Het
Phf24 G A 4: 42,934,817 (GRCm39) C151Y probably damaging Het
Pik3r1 T G 13: 101,830,892 (GRCm39) N3T probably benign Het
Plcb2 T C 2: 118,542,484 (GRCm39) K821E probably benign Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Prelid2 T C 18: 42,045,461 (GRCm39) T150A probably benign Het
Psg21 A G 7: 18,381,257 (GRCm39) S429P probably damaging Het
Reg4 T C 3: 98,140,360 (GRCm39) Y114H possibly damaging Het
Rsbn1l G T 5: 21,101,544 (GRCm39) H665Q probably damaging Het
Rspo2 T C 15: 43,033,150 (GRCm39) N24S probably benign Het
Ryr2 G T 13: 11,731,952 (GRCm39) C2329* probably null Het
Skint2 T A 4: 112,441,785 (GRCm39) probably benign Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tmem53 T C 4: 117,123,149 (GRCm39) Y37H probably damaging Het
Tmem59l G A 8: 70,938,749 (GRCm39) R111W probably damaging Het
Tnks2 G A 19: 36,823,053 (GRCm39) V107I probably damaging Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Tubgcp4 T A 2: 121,019,882 (GRCm39) L404* probably null Het
Vmn2r86 T C 10: 130,288,845 (GRCm39) I219V possibly damaging Het
Vsig10 T C 5: 117,462,986 (GRCm39) S71P probably benign Het
Wnk1 T C 6: 119,930,856 (GRCm39) N896S probably benign Het
Zfp871 T A 17: 32,993,808 (GRCm39) S437C probably benign Het
Zfp871 C A 17: 32,993,807 (GRCm39) S456I probably benign Het
Zfp873 A G 10: 81,896,708 (GRCm39) T480A probably benign Het
Other mutations in Or51l14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Or51l14 APN 7 103,101,002 (GRCm39) missense probably damaging 1.00
IGL01608:Or51l14 APN 7 103,101,011 (GRCm39) missense probably benign 0.00
IGL02251:Or51l14 APN 7 103,100,978 (GRCm39) nonsense probably null
IGL02319:Or51l14 APN 7 103,101,474 (GRCm39) missense probably benign 0.01
R0369:Or51l14 UTSW 7 103,101,423 (GRCm39) missense probably damaging 1.00
R0480:Or51l14 UTSW 7 103,100,835 (GRCm39) missense probably benign 0.07
R1759:Or51l14 UTSW 7 103,101,356 (GRCm39) missense probably benign 0.11
R1858:Or51l14 UTSW 7 103,101,332 (GRCm39) missense probably benign 0.16
R2156:Or51l14 UTSW 7 103,101,371 (GRCm39) missense probably benign 0.01
R4226:Or51l14 UTSW 7 103,100,784 (GRCm39) missense probably benign 0.31
R5071:Or51l14 UTSW 7 103,100,617 (GRCm39) missense probably benign
R5074:Or51l14 UTSW 7 103,100,617 (GRCm39) missense probably benign
R5137:Or51l14 UTSW 7 103,100,920 (GRCm39) nonsense probably null
R5137:Or51l14 UTSW 7 103,100,919 (GRCm39) missense probably damaging 1.00
R8914:Or51l14 UTSW 7 103,101,090 (GRCm39) missense probably damaging 1.00
R9457:Or51l14 UTSW 7 103,100,618 (GRCm39) missense probably benign 0.00
X0018:Or51l14 UTSW 7 103,101,005 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- GTGTTAAGAATTGCATCCCGGG -3'
(R):5'- TGTCAGTAACTGAGTTGCCTC -3'

Sequencing Primer
(F):5'- GGCTTAAGGCACTCAACACATGTG -3'
(R):5'- GTAACTGAGTTGCCTCTAATTTTGC -3'
Posted On 2015-07-07