Incidental Mutation 'R2696:Or51l4'
ID 251065
Institutional Source Beutler Lab
Gene Symbol Or51l4
Ensembl Gene ENSMUSG00000050281
Gene Name olfactory receptor family 51 subfamily L member 4
Synonyms Olfr630, MOR17-1, GA_x6K02T2PBJ9-6483085-6482126
MMRRC Submission 040434-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2696 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103403357-103406557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103404735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 19 (I19T)
Ref Sequence ENSEMBL: ENSMUSP00000102493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106880]
AlphaFold Q9EQQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000052826
AA Change: I19T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: I19T

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 3.4e-120 PFAM
Pfam:7TM_GPCR_Srsx 37 305 3.7e-8 PFAM
Pfam:7tm_1 43 294 1.1e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106880
AA Change: I19T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: I19T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 305 3.7e-8 PFAM
Pfam:7tm_1 43 294 8.4e-25 PFAM
Pfam:7tm_4 144 287 9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217072
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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
4930562C15Rik A T 16: 4,668,228 (GRCm39) T540S probably benign Het
Acp7 G T 7: 28,314,001 (GRCm39) H369Q probably benign Het
Adgrg3 A G 8: 95,747,702 (GRCm39) N65S probably benign Het
Anln A G 9: 22,272,259 (GRCm39) V620A probably benign Het
Atp10a T A 7: 58,463,366 (GRCm39) S966R probably benign Het
Atp8b3 T A 10: 80,370,017 (GRCm39) Q132L possibly damaging Het
Col4a1 T A 8: 11,285,092 (GRCm39) probably null Het
Ddx21 T C 10: 62,429,871 (GRCm39) H291R possibly damaging Het
Dlgap3 A G 4: 127,088,416 (GRCm39) Y4C probably damaging Het
Dnah5 A G 15: 28,278,722 (GRCm39) N1106D probably benign Het
Esyt1 T C 10: 128,352,914 (GRCm39) D662G probably damaging Het
F830016B08Rik T A 18: 60,433,808 (GRCm39) V297E possibly damaging Het
Faf1 T A 4: 109,698,525 (GRCm39) N328K possibly damaging Het
Gdf3 A C 6: 122,583,859 (GRCm39) F169L probably benign Het
Ifi213 G A 1: 173,417,590 (GRCm39) T274I probably benign Het
Igf2r T C 17: 12,914,231 (GRCm39) D1746G possibly damaging Het
Ighv1-75 T C 12: 115,797,826 (GRCm39) K32R probably benign Het
Ipo8 T A 6: 148,698,239 (GRCm39) Q594L probably benign Het
Krt87 A T 15: 101,384,890 (GRCm39) I402N probably benign Het
Med18 G A 4: 132,187,281 (GRCm39) R118W probably damaging Het
Mmrn2 A G 14: 34,120,372 (GRCm39) E414G probably damaging Het
Myo6 A G 9: 80,168,176 (GRCm39) T447A probably benign Het
Ncoa6 T C 2: 155,279,935 (GRCm39) E27G probably benign Het
Ngly1 T C 14: 16,283,439 (GRCm38) L406S possibly damaging Het
Or14j1 T C 17: 38,145,998 (GRCm39) I36T probably benign Het
Phldb1 T C 9: 44,629,585 (GRCm39) Y156C probably damaging Het
Pkd2l1 T A 19: 44,145,708 (GRCm39) T172S probably benign Het
Pknox2 G A 9: 36,820,987 (GRCm39) R292* probably null Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Polr3e T C 7: 120,532,600 (GRCm39) L212P probably damaging Het
Ppp4r4 A G 12: 103,547,653 (GRCm39) I215M possibly damaging Het
Psmg2 T C 18: 67,781,288 (GRCm39) Y127H possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptp4a1 A T 1: 30,985,213 (GRCm39) M4K probably benign Het
R3hcc1l A T 19: 42,552,427 (GRCm39) I475L possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rsf1 GGC GGCGGCGGCGGC 7: 97,229,140 (GRCm39) probably benign Het
Sec63 T A 10: 42,659,522 (GRCm39) I70N probably benign Het
Slc2a5 A C 4: 150,205,203 (GRCm39) K4T probably benign Het
Slc4a3 A G 1: 75,532,119 (GRCm39) Y939C possibly damaging Het
Slc7a15 T C 12: 8,579,345 (GRCm39) *229W probably null Het
Slco1a6 C A 6: 142,058,662 (GRCm39) G206C probably damaging Het
Spata9 A G 13: 76,125,895 (GRCm39) Q126R probably benign Het
Speg A T 1: 75,383,570 (GRCm39) D1186V probably benign Het
Spink5 T G 18: 44,115,359 (GRCm39) M197R probably damaging Het
Stab2 T C 10: 86,697,363 (GRCm39) D1975G probably benign Het
Syngap1 T A 17: 27,176,385 (GRCm39) C224* probably null Het
Ttn T C 2: 76,698,807 (GRCm39) probably benign Het
Txnrd1 G A 10: 82,721,116 (GRCm39) E397K probably benign Het
Ugt2b36 A T 5: 87,237,344 (GRCm39) M313K probably damaging Het
Ulk3 A G 9: 57,497,724 (GRCm39) I74V possibly damaging Het
Zcchc4 T C 5: 52,953,573 (GRCm39) V194A probably damaging Het
Zfp27 C T 7: 29,595,792 (GRCm39) A58T possibly damaging Het
Zfp398 T G 6: 47,843,879 (GRCm39) *512E probably null Het
Other mutations in Or51l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Or51l4 APN 7 103,404,213 (GRCm39) missense probably damaging 1.00
IGL01111:Or51l4 APN 7 103,404,580 (GRCm39) missense probably benign 0.07
IGL02456:Or51l4 APN 7 103,404,700 (GRCm39) missense possibly damaging 0.94
IGL03173:Or51l4 APN 7 103,404,183 (GRCm39) missense probably benign 0.00
R1104:Or51l4 UTSW 7 103,404,183 (GRCm39) missense probably benign 0.00
R1507:Or51l4 UTSW 7 103,404,228 (GRCm39) missense probably benign 0.00
R1695:Or51l4 UTSW 7 103,404,131 (GRCm39) nonsense probably null
R1966:Or51l4 UTSW 7 103,404,375 (GRCm39) missense probably damaging 1.00
R1971:Or51l4 UTSW 7 103,404,527 (GRCm39) nonsense probably null
R4943:Or51l4 UTSW 7 103,404,503 (GRCm39) missense probably benign 0.12
R5622:Or51l4 UTSW 7 103,404,376 (GRCm39) missense probably damaging 0.99
R6365:Or51l4 UTSW 7 103,404,402 (GRCm39) missense probably benign 0.00
R7592:Or51l4 UTSW 7 103,404,279 (GRCm39) missense probably damaging 1.00
R8146:Or51l4 UTSW 7 103,404,510 (GRCm39) missense probably damaging 1.00
R8283:Or51l4 UTSW 7 103,404,019 (GRCm39) missense possibly damaging 0.51
R8867:Or51l4 UTSW 7 103,403,893 (GRCm39) nonsense probably null
R8875:Or51l4 UTSW 7 103,404,462 (GRCm39) missense probably damaging 1.00
R9658:Or51l4 UTSW 7 103,404,028 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGGCCATGTCAGTGAGTG -3'
(R):5'- CCTTGATGGCAGTAAAGGGC -3'

Sequencing Primer
(F):5'- CATGTCAGTGAGTGAAAGCATAGCC -3'
(R):5'- GGCTTTTAAAAATTATTGCTGCCC -3'
Posted On 2014-12-04