Incidental Mutation 'R6518:Or11a4'
ID 520929
Institutional Source Beutler Lab
Gene Symbol Or11a4
Ensembl Gene ENSMUSG00000064121
Gene Name olfactory receptor family 11 subfamily A member 4
Synonyms MOR121-1, Olfr96, GA_x6K02T2PSCP-1665046-1665987
MMRRC Submission 044645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R6518 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 37535982-37537032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37536159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 48 (A48S)
Ref Sequence ENSEMBL: ENSMUSP00000151151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078209] [ENSMUST00000213475] [ENSMUST00000214482]
AlphaFold Q8VFE3
Predicted Effect probably benign
Transcript: ENSMUST00000078209
AA Change: A48S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000077338
Gene: ENSMUSG00000064121
AA Change: A48S

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 6.6e-53 PFAM
Pfam:7tm_1 43 291 6.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213475
AA Change: A48S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000214482
AA Change: A48S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 98% (48/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,123,608 (GRCm39) D88G probably damaging Het
Abcc12 A G 8: 87,235,718 (GRCm39) Het
Angptl6 T C 9: 20,786,656 (GRCm39) H330R probably damaging Het
Asxl3 T A 18: 22,649,397 (GRCm39) V462E probably damaging Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
C1ra T A 6: 124,498,534 (GRCm39) probably null Het
C2 T A 17: 35,083,094 (GRCm39) I426F probably damaging Het
C4b A T 17: 34,953,179 (GRCm39) Y1049N probably damaging Het
Cdkn1b T A 6: 134,898,283 (GRCm39) M134K probably benign Het
Cenpn A G 8: 117,663,904 (GRCm39) D145G possibly damaging Het
Ckap2 A T 8: 22,663,319 (GRCm39) I492K probably benign Het
Cog2 G A 8: 125,253,842 (GRCm39) W67* probably null Het
Col7a1 T C 9: 108,784,595 (GRCm39) F172L unknown Het
Dcaf1 T C 9: 106,712,788 (GRCm39) I112T probably damaging Het
Ddx4 T C 13: 112,741,081 (GRCm39) I518V probably benign Het
Dnah10 T C 5: 124,835,419 (GRCm39) L908P probably damaging Het
Dsg3 T C 18: 20,666,479 (GRCm39) Y563H probably benign Het
Gm16686 A C 4: 88,673,725 (GRCm39) probably benign Het
Gpr139 A T 7: 118,743,734 (GRCm39) F284I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Ice1 A T 13: 70,754,428 (GRCm39) F553I possibly damaging Het
Igkv6-29 T A 6: 70,115,497 (GRCm39) Q99L probably damaging Het
Lipt1 A G 1: 37,914,856 (GRCm39) N304S probably benign Het
Lmo1 A C 7: 108,742,783 (GRCm39) L39R probably damaging Het
Mcc T A 18: 44,794,878 (GRCm39) probably benign Het
Mindy3 T C 2: 12,386,940 (GRCm39) T74A probably damaging Het
Obi1 A T 14: 104,716,501 (GRCm39) L624H probably damaging Het
Or13j1 A G 4: 43,706,334 (GRCm39) V78A probably benign Het
Or4e5 T C 14: 52,728,077 (GRCm39) I115V probably damaging Het
Ormdl1 T C 1: 53,348,116 (GRCm39) Y153H probably benign Het
Pdzrn3 A T 6: 101,127,475 (GRCm39) *1064K probably null Het
Pias1 A G 9: 62,859,142 (GRCm39) L113P probably damaging Het
Piezo2 A T 18: 63,239,342 (GRCm39) I514N probably damaging Het
Prkd1 T C 12: 50,472,278 (GRCm39) T212A probably benign Het
Rsph10b A G 5: 143,900,691 (GRCm39) Y151C probably damaging Het
Samhd1 G A 2: 156,956,217 (GRCm39) T325M possibly damaging Het
Seh1l A G 18: 67,922,519 (GRCm39) T291A probably damaging Het
Smim24 A G 10: 81,229,695 (GRCm39) M1V probably null Het
Sp140 TTTTTTTTTTTT TTTTTTTTTTTTTTTTT 1: 85,572,291 (GRCm39) probably benign Het
Spata31f1e A G 4: 42,791,750 (GRCm39) I794T probably benign Het
Speer3 T G 5: 13,845,462 (GRCm39) I165S possibly damaging Het
Timm23 A G 14: 31,923,594 (GRCm39) probably null Het
Tmem17 A T 11: 22,467,427 (GRCm39) Y75F possibly damaging Het
Tmem86b A T 7: 4,632,608 (GRCm39) C85* probably null Het
Try5 A G 6: 41,291,613 (GRCm39) F6S probably benign Het
Vmn2r71 G T 7: 85,270,436 (GRCm39) C534F probably damaging Het
Vmn2r85 A T 10: 130,265,281 (GRCm39) D67E probably benign Het
Wars2 A T 3: 99,124,116 (GRCm39) M326L probably benign Het
Wdr70 A T 15: 8,108,821 (GRCm39) S108R unknown Het
Zfp677 A G 17: 21,618,392 (GRCm39) H483R probably damaging Het
Other mutations in Or11a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Or11a4 APN 17 37,536,043 (GRCm39) missense probably benign 0.05
IGL02151:Or11a4 APN 17 37,536,057 (GRCm39) missense probably damaging 1.00
IGL02335:Or11a4 APN 17 37,536,217 (GRCm39) missense probably damaging 0.97
R0360:Or11a4 UTSW 17 37,536,934 (GRCm39) missense possibly damaging 0.49
R0364:Or11a4 UTSW 17 37,536,934 (GRCm39) missense possibly damaging 0.49
R1763:Or11a4 UTSW 17 37,536,321 (GRCm39) missense probably benign 0.02
R3977:Or11a4 UTSW 17 37,536,049 (GRCm39) missense probably benign 0.24
R6116:Or11a4 UTSW 17 37,536,459 (GRCm39) missense probably benign 0.00
R6248:Or11a4 UTSW 17 37,536,451 (GRCm39) nonsense probably null
R6378:Or11a4 UTSW 17 37,536,688 (GRCm39) missense probably benign 0.21
R6614:Or11a4 UTSW 17 37,536,790 (GRCm39) missense probably benign 0.01
R6798:Or11a4 UTSW 17 37,536,697 (GRCm39) missense probably damaging 1.00
R6874:Or11a4 UTSW 17 37,536,238 (GRCm39) missense probably benign 0.00
R7468:Or11a4 UTSW 17 37,536,276 (GRCm39) missense probably benign 0.01
R7820:Or11a4 UTSW 17 37,536,786 (GRCm39) missense probably benign 0.00
R7852:Or11a4 UTSW 17 37,536,163 (GRCm39) missense probably benign 0.01
R8322:Or11a4 UTSW 17 37,536,241 (GRCm39) missense probably damaging 0.99
R8481:Or11a4 UTSW 17 37,536,295 (GRCm39) missense probably damaging 1.00
R8933:Or11a4 UTSW 17 37,536,346 (GRCm39) missense possibly damaging 0.96
X0027:Or11a4 UTSW 17 37,536,634 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TGTCAAGCCAAGCAGAAAACTG -3'
(R):5'- TATCGATCATATGCCATCACAGCC -3'

Sequencing Primer
(F):5'- GCAGAAAACTGAATATCCCATGG -3'
(R):5'- GCAGAAAACACTCATCTGTGG -3'
Posted On 2018-06-06