Incidental Mutation 'R1966:Or51l4'
ID 218956
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 039979-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R1966 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103403357-103406557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 103404375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 139 (T139K)
Ref Sequence ENSEMBL: ENSMUSP00000102493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106880]
AlphaFold Q9EQQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000052826
AA Change: T139K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: T139K

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: T139K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: T139K

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: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,650 (GRCm39) V185E probably benign Het
Abca1 A C 4: 53,050,409 (GRCm39) V1608G probably damaging Het
Ap2b1 T C 11: 83,237,721 (GRCm39) I557T probably benign Het
Arhgef15 G T 11: 68,845,501 (GRCm39) P117Q probably damaging Het
Arhgef39 T C 4: 43,496,710 (GRCm39) S335G probably benign Het
Blm A T 7: 80,162,934 (GRCm39) F139Y possibly damaging Het
Cacna2d1 C T 5: 16,538,783 (GRCm39) R581* probably null Het
Cadps C A 14: 12,822,450 (GRCm38) E97* probably null Het
Cavin2 T A 1: 51,328,801 (GRCm39) L86Q probably damaging Het
Ccdc136 A G 6: 29,418,091 (GRCm39) E787G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cdh23 T C 10: 60,159,361 (GRCm39) Y2138C probably damaging Het
Cdk12 T A 11: 98,094,916 (GRCm39) Y241* probably null Het
Clcn4 T A 7: 7,287,184 (GRCm39) *688L probably null Het
Cntnap1 T C 11: 101,071,212 (GRCm39) V375A possibly damaging Het
Coq5 T A 5: 115,432,890 (GRCm39) probably null Het
Cyp4b1 A G 4: 115,483,076 (GRCm39) I405T probably benign Het
Det1 T C 7: 78,492,966 (GRCm39) Y346C probably damaging Het
Enpp3 A T 10: 24,683,389 (GRCm39) V276E probably damaging Het
Epb41l2 G A 10: 25,317,666 (GRCm39) R61Q probably benign Het
Fam76b G A 9: 13,739,362 (GRCm39) probably null Het
Fbxo45 A T 16: 32,052,048 (GRCm39) D238E probably benign Het
Fnip2 G A 3: 79,400,779 (GRCm39) T314I probably benign Het
Fsip2 T C 2: 82,823,124 (GRCm39) S6286P possibly damaging Het
Gbf1 T C 19: 46,260,003 (GRCm39) F999L probably damaging Het
Gnao1 C A 8: 94,670,827 (GRCm39) T102K probably benign Het
Gpatch2 T A 1: 187,054,498 (GRCm39) D76E probably damaging Het
Gpd1l A G 9: 114,743,462 (GRCm39) I146T probably benign Het
Grik2 A T 10: 49,232,005 (GRCm39) H508Q probably damaging Het
Hapstr1 A G 16: 8,648,445 (GRCm39) E41G possibly damaging Het
Hk3 A T 13: 55,162,268 (GRCm39) F112Y probably damaging Het
Hmcn2 T G 2: 31,279,341 (GRCm39) I1781S probably damaging Het
Inhba A T 13: 16,201,221 (GRCm39) K261M probably damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcna2 T C 3: 107,011,946 (GRCm39) S176P probably damaging Het
Kcnj3 A T 2: 55,327,343 (GRCm39) Q44L probably damaging Het
Kcns1 G T 2: 164,010,455 (GRCm39) F101L probably damaging Het
Kdm5b T A 1: 134,541,611 (GRCm39) probably null Het
Klhl14 C T 18: 21,687,730 (GRCm39) G564D probably damaging Het
Klhl18 A T 9: 110,305,658 (GRCm39) V2E probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Krt1 T C 15: 101,757,427 (GRCm39) D261G probably benign Het
Lama5 C A 2: 179,830,145 (GRCm39) C1896F probably damaging Het
Lrba A G 3: 86,513,175 (GRCm39) probably null Het
Lrch3 A G 16: 32,734,755 (GRCm39) T82A possibly damaging Het
Maml3 C G 3: 52,011,560 (GRCm39) G2A unknown Het
Mapkap1 T A 2: 34,408,691 (GRCm39) N34K probably damaging Het
Muc13 A T 16: 33,634,909 (GRCm39) I488F probably damaging Het
Muc5ac A G 7: 141,357,113 (GRCm39) D1129G possibly damaging Het
Nacc1 A T 8: 85,403,010 (GRCm39) N288K probably damaging Het
Nek1 T G 8: 61,469,330 (GRCm39) I129R probably damaging Het
Nf1 T A 11: 79,302,390 (GRCm39) S319R possibly damaging Het
Nle1 C T 11: 82,792,614 (GRCm39) G432D probably damaging Het
Nol4l A G 2: 153,371,375 (GRCm39) V103A probably benign Het
Oca2 A G 7: 56,064,215 (GRCm39) I737V probably damaging Het
Or12k5 A T 2: 36,894,960 (GRCm39) F222Y possibly damaging Het
Or1j17 G A 2: 36,578,796 (GRCm39) V261I probably benign Het
Or4b1 T C 2: 89,979,748 (GRCm39) S201G probably damaging Het
Or52ac1 A G 7: 104,246,008 (GRCm39) C127R probably damaging Het
Or6k6 G T 1: 173,944,817 (GRCm39) S255* probably null Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Orc1 T A 4: 108,469,414 (GRCm39) I746N probably damaging Het
Pbxip1 A G 3: 89,352,795 (GRCm39) D147G probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plin5 T A 17: 56,419,186 (GRCm39) D412V probably damaging Het
Plxna2 A T 1: 194,327,008 (GRCm39) Y314F possibly damaging Het
Ppid A T 3: 79,509,606 (GRCm39) K308* probably null Het
Prss38 T C 11: 59,264,310 (GRCm39) Y219C probably damaging Het
Ptx3 C T 3: 66,132,042 (GRCm39) R188C probably damaging Het
Ralgds T A 2: 28,435,887 (GRCm39) V504E probably damaging Het
Rere T C 4: 150,701,330 (GRCm39) Y1237H probably damaging Het
Rpp30 C T 19: 36,066,549 (GRCm39) S94L probably damaging Het
Rrp15 C T 1: 186,468,402 (GRCm39) V205I possibly damaging Het
Scpep1 A G 11: 88,843,240 (GRCm39) W73R probably damaging Het
Sec23ip A G 7: 128,357,077 (GRCm39) H376R probably damaging Het
Serping1 G T 2: 84,596,072 (GRCm39) T454K probably damaging Het
Shtn1 T G 19: 58,963,470 (GRCm39) Y615S probably benign Het
Slc20a2 C A 8: 23,035,553 (GRCm39) P184T probably damaging Het
Slc22a29 C A 19: 8,195,772 (GRCm39) R89L probably damaging Het
Slc2a2 A G 3: 28,773,634 (GRCm39) Q313R probably damaging Het
Tas2r122 A T 6: 132,688,157 (GRCm39) Y245* probably null Het
Ticrr C A 7: 79,344,483 (GRCm39) C1449* probably null Het
Tmem181a T C 17: 6,353,501 (GRCm39) V412A probably benign Het
Tmtc4 T A 14: 123,165,011 (GRCm39) E616V probably benign Het
Tnrc6b A G 15: 80,764,640 (GRCm39) K714R probably damaging Het
Trpm8 T A 1: 88,260,470 (GRCm39) probably null Het
Ubr2 T C 17: 47,265,845 (GRCm39) T1163A probably benign Het
Ubr4 A G 4: 139,178,555 (GRCm39) probably null Het
Ulk2 A T 11: 61,710,297 (GRCm39) probably null Het
Ulk4 T A 9: 121,086,182 (GRCm39) M350L probably benign Het
Vmn1r185 T C 7: 26,310,956 (GRCm39) E183G probably benign Het
Vmn1r76 T A 7: 11,664,441 (GRCm39) I223F probably damaging Het
Wdr27 T C 17: 15,154,861 (GRCm39) T19A possibly damaging Het
Wdr59 T G 8: 112,177,535 (GRCm39) T973P possibly damaging Het
Wnk2 A G 13: 49,192,487 (GRCm39) S664P probably damaging Het
Zfp1004 T A 2: 150,033,827 (GRCm39) D49E probably benign Het
Zfp120 A T 2: 149,959,318 (GRCm39) C335S probably damaging Het
Zfp30 C A 7: 29,491,877 (GRCm39) Q44K probably benign Het
Zfp541 T C 7: 15,812,996 (GRCm39) S550P probably benign Het
Zw10 C A 9: 48,980,133 (GRCm39) N421K probably damaging 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
R1971:Or51l4 UTSW 7 103,404,527 (GRCm39) nonsense probably null
R2696:Or51l4 UTSW 7 103,404,735 (GRCm39) missense probably damaging 0.96
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

Sequencing Primer
Posted On 2014-08-25