Incidental Mutation 'IGL03048:Or11j4'
ID 391831
Institutional Source Beutler Lab
Gene Symbol Or11j4
Ensembl Gene ENSMUSG00000047716
Gene Name olfactory receptor family 11 subfamily J member 4
Synonyms GA_x6K02T2PMLR-6089963-6090901, MOR106-5, Olfr736
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL03048 (G1)
Quality Score 213
Status Validated
Chromosome 14
Chromosomal Location 50630215-50631153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 50630245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 11 (V11L)
Ref Sequence ENSEMBL: ENSMUSP00000149654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058965] [ENSMUST00000213402] [ENSMUST00000213755] [ENSMUST00000215227] [ENSMUST00000215263]
AlphaFold Q8VFT6
Predicted Effect possibly damaging
Transcript: ENSMUST00000058965
AA Change: V11L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062700
Gene: ENSMUSG00000047716
AA Change: V11L

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 1.5e-45 PFAM
Pfam:7TM_GPCR_Srsx 37 175 6.9e-7 PFAM
Pfam:7tm_1 43 294 4.7e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213402
AA Change: V11L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213755
AA Change: V11L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215227
AA Change: V11L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215263
AA Change: V11L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.2141 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (40/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,868,711 (GRCm39) probably null Het
Anapc4 C T 5: 52,997,075 (GRCm39) T116I probably benign Het
Arhgap45 C T 10: 79,852,851 (GRCm39) R14C probably damaging Het
Bysl T C 17: 47,913,560 (GRCm39) probably null Het
Ccdc166 T A 15: 75,854,050 (GRCm39) N10I possibly damaging Het
Chd1l T C 3: 97,505,079 (GRCm39) S163G probably benign Het
Col6a3 A G 1: 90,737,970 (GRCm39) V576A possibly damaging Het
Cpped1 T C 16: 11,646,339 (GRCm39) T162A probably benign Het
Dcbld1 A T 10: 52,180,722 (GRCm39) I200F probably damaging Het
Dock6 T C 9: 21,720,866 (GRCm39) E1713G probably damaging Het
Eif4a3l1 A T 6: 136,306,198 (GRCm39) T220S probably damaging Het
Evx1 T C 6: 52,292,739 (GRCm39) L130P probably benign Het
Fam168a A G 7: 100,484,545 (GRCm39) T228A probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Firrm G A 1: 163,792,094 (GRCm39) A608V probably benign Het
Foxp4 A T 17: 48,191,765 (GRCm39) M124K unknown Het
Gabrr3 A G 16: 59,250,493 (GRCm39) H164R probably benign Het
Gapdhrt T A 14: 11,281,873 (GRCm38) I21F probably benign Het
Greb1 C T 12: 16,783,332 (GRCm39) C134Y probably damaging Het
Hddc2 G A 10: 31,192,332 (GRCm39) V79I possibly damaging Het
Lbr T C 1: 181,666,109 (GRCm39) probably benign Het
Mamdc4 C T 2: 25,459,084 (GRCm39) R229K possibly damaging Het
Mtor T C 4: 148,630,847 (GRCm39) probably benign Het
Ncoa1 T C 12: 4,317,922 (GRCm39) R1137G probably damaging Het
Nlrp4d T C 7: 10,092,881 (GRCm39) noncoding transcript Het
Oasl1 T A 5: 115,075,400 (GRCm39) S487T possibly damaging Het
Oprm1 T C 10: 6,779,064 (GRCm39) I91T probably damaging Het
Or1e26 G C 11: 73,479,831 (GRCm39) H244Q possibly damaging Het
Or8g33 A G 9: 39,338,065 (GRCm39) F101L probably benign Het
Pdzk1ip1 T A 4: 114,950,181 (GRCm39) D147E probably benign Het
Per1 A G 11: 68,995,552 (GRCm39) K711E probably damaging Het
Rab3gap1 A G 1: 127,865,214 (GRCm39) N734S probably damaging Het
Rapgefl1 T C 11: 98,727,990 (GRCm39) L4P possibly damaging Het
Sgk2 A G 2: 162,837,680 (GRCm39) Y101C probably damaging Het
Tmem129 A G 5: 33,812,811 (GRCm39) V179A possibly damaging Het
Ttn T C 2: 76,719,259 (GRCm39) probably benign Het
Ttyh2 T A 11: 114,587,521 (GRCm39) M174K probably benign Het
Vmn2r13 G A 5: 109,304,151 (GRCm39) A760V probably damaging Het
Vmn2r82 A T 10: 79,232,460 (GRCm39) I820F probably damaging Het
Zswim4 T C 8: 84,938,604 (GRCm39) M1093V possibly damaging Het
Other mutations in Or11j4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Or11j4 APN 14 50,630,291 (GRCm39) missense probably benign 0.33
IGL01952:Or11j4 APN 14 50,630,860 (GRCm39) missense probably benign 0.02
IGL01996:Or11j4 APN 14 50,631,116 (GRCm39) missense probably damaging 0.99
IGL02694:Or11j4 APN 14 50,630,257 (GRCm39) missense probably benign 0.02
IGL02717:Or11j4 APN 14 50,631,104 (GRCm39) missense probably damaging 1.00
IGL03185:Or11j4 APN 14 50,630,855 (GRCm39) missense probably damaging 0.99
IGL03218:Or11j4 APN 14 50,631,115 (GRCm39) missense probably damaging 0.98
R0066:Or11j4 UTSW 14 50,630,659 (GRCm39) missense probably benign 0.08
R0066:Or11j4 UTSW 14 50,630,659 (GRCm39) missense probably benign 0.08
R0089:Or11j4 UTSW 14 50,630,321 (GRCm39) missense probably benign
R0254:Or11j4 UTSW 14 50,630,536 (GRCm39) missense probably damaging 0.99
R0284:Or11j4 UTSW 14 50,630,452 (GRCm39) missense probably damaging 1.00
R1800:Or11j4 UTSW 14 50,630,786 (GRCm39) nonsense probably null
R3885:Or11j4 UTSW 14 50,630,326 (GRCm39) missense probably benign 0.05
R4302:Or11j4 UTSW 14 50,630,903 (GRCm39) missense probably benign 0.23
R4452:Or11j4 UTSW 14 50,630,369 (GRCm39) missense probably benign
R4705:Or11j4 UTSW 14 50,630,257 (GRCm39) missense probably benign 0.02
R5340:Or11j4 UTSW 14 50,630,677 (GRCm39) missense probably damaging 0.98
R6007:Or11j4 UTSW 14 50,630,948 (GRCm39) missense probably damaging 1.00
R6338:Or11j4 UTSW 14 50,630,857 (GRCm39) missense possibly damaging 0.47
R6358:Or11j4 UTSW 14 50,630,845 (GRCm39) missense possibly damaging 0.78
R6521:Or11j4 UTSW 14 50,631,005 (GRCm39) missense possibly damaging 0.95
R6527:Or11j4 UTSW 14 50,630,885 (GRCm39) nonsense probably null
R6777:Or11j4 UTSW 14 50,631,115 (GRCm39) missense probably damaging 0.98
R6903:Or11j4 UTSW 14 50,631,089 (GRCm39) missense possibly damaging 0.48
R8899:Or11j4 UTSW 14 50,630,269 (GRCm39) missense probably damaging 0.99
X0026:Or11j4 UTSW 14 50,630,998 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- AGATTACCCTTGCCAGACATTTC -3'
(R):5'- GCCAGCAGAATGTACATGGG -3'

Sequencing Primer
(F):5'- GACATTTCTCTGGCTACACATTAAG -3'
(R):5'- GTGTATGAAGCCGATGATCCC -3'
Posted On 2016-06-07