Incidental Mutation 'R0091:Or1j18'
ID 20187
Institutional Source Beutler Lab
Gene Symbol Or1j18
Ensembl Gene ENSMUSG00000111863
Gene Name olfactory receptor family 1 subfamily J member 18
Synonyms MOR136-9, Olfr347, GA_x6K02T2NLDC-33428755-33429693
MMRRC Submission 038378-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R0091 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 36624335-36625273 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36624917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 195 (N195D)
Ref Sequence ENSEMBL: ENSMUSP00000151158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078761] [ENSMUST00000216882]
AlphaFold Q8VGK2
Predicted Effect probably damaging
Transcript: ENSMUST00000078761
AA Change: N195D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077819
Gene: ENSMUSG00000111863
AA Change: N195D

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.2e-58 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.3e-5 PFAM
Pfam:7tm_1 41 290 1.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216882
AA Change: N195D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4033 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.9%
  • 10x: 94.4%
  • 20x: 84.5%
Validation Efficiency 98% (86/88)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,932,179 (GRCm39) S278P possibly damaging Het
Adam11 A G 11: 102,663,665 (GRCm39) Y281C probably damaging Het
Adam6a G T 12: 113,507,849 (GRCm39) R74L possibly damaging Het
Adcy5 T C 16: 35,091,368 (GRCm39) probably null Het
Adrb2 A G 18: 62,312,090 (GRCm39) L245P probably benign Het
Aebp2 T C 6: 140,589,800 (GRCm39) probably null Het
Arhgap23 A G 11: 97,343,070 (GRCm39) T240A probably benign Het
Atp10a T C 7: 58,423,794 (GRCm39) probably benign Het
Atp13a4 T A 16: 29,274,213 (GRCm39) Y416F probably damaging Het
Atp5mc2 A C 15: 102,571,492 (GRCm39) L133R probably damaging Het
Bicral A T 17: 47,136,233 (GRCm39) Y326N probably damaging Het
Chst4 T C 8: 110,757,297 (GRCm39) S189G probably damaging Het
Cnot1 A T 8: 96,489,772 (GRCm39) I477N probably damaging Het
Col7a1 G T 9: 108,796,574 (GRCm39) probably benign Het
Dchs1 A G 7: 105,415,301 (GRCm39) probably benign Het
Dcn A G 10: 97,342,551 (GRCm39) N169S probably benign Het
Dnajc6 T C 4: 101,473,974 (GRCm39) probably benign Het
Egln3 A G 12: 54,228,432 (GRCm39) F225L probably benign Het
Erap1 G A 13: 74,816,171 (GRCm39) R100Q possibly damaging Het
Erc2 A T 14: 27,498,781 (GRCm39) probably null Het
Fto G A 8: 92,168,435 (GRCm39) probably null Het
Gdap1l1 C T 2: 163,288,011 (GRCm39) P80S probably damaging Het
Gm1123 T C 9: 98,905,405 (GRCm39) E35G possibly damaging Het
Hhipl1 A G 12: 108,288,156 (GRCm39) probably benign Het
Ift80 A T 3: 68,822,008 (GRCm39) L679Q probably damaging Het
Il18 A G 9: 50,488,013 (GRCm39) probably benign Het
Inhbb T C 1: 119,345,125 (GRCm39) Y388C probably damaging Het
Kmt2d G T 15: 98,742,360 (GRCm39) probably benign Het
Krt20 A G 11: 99,328,640 (GRCm39) V95A probably damaging Het
Lck A T 4: 129,449,474 (GRCm39) S274R possibly damaging Het
Lrp1 T A 10: 127,376,848 (GRCm39) N4243I probably damaging Het
Lrrfip2 G A 9: 111,043,311 (GRCm39) V506I probably damaging Het
Ltbp2 A G 12: 84,840,507 (GRCm39) C1000R probably damaging Het
Matn3 G A 12: 9,002,105 (GRCm39) D106N probably damaging Het
Mical2 A G 7: 111,980,503 (GRCm39) E49G probably benign Het
Mmadhc A G 2: 50,182,869 (GRCm39) S36P probably damaging Het
Morn1 T C 4: 155,229,629 (GRCm39) Y433H probably damaging Het
Mpo A G 11: 87,692,436 (GRCm39) M525V probably benign Het
Myo5a C T 9: 75,068,774 (GRCm39) R659C probably damaging Het
Obox6 T C 7: 15,568,364 (GRCm39) S171G probably benign Het
Or4k36 T A 2: 111,146,518 (GRCm39) D231E probably benign Het
Or5g29 A T 2: 85,421,696 (GRCm39) N271Y probably benign Het
P2ry14 A G 3: 59,023,314 (GRCm39) Y49H probably benign Het
Papss2 C T 19: 32,611,302 (GRCm39) T17I possibly damaging Het
Pcid2 T C 8: 13,135,392 (GRCm39) T206A probably benign Het
Pex6 A G 17: 47,022,844 (GRCm39) E140G probably damaging Het
Ppp1r3b A G 8: 35,851,821 (GRCm39) Y220C probably damaging Het
Prdx2 T G 8: 85,698,330 (GRCm39) probably benign Het
Ptbp2 A T 3: 119,514,310 (GRCm39) L471Q probably damaging Het
Rbm33 T A 5: 28,557,604 (GRCm39) D232E possibly damaging Het
Rnf214 T A 9: 45,809,791 (GRCm39) probably null Het
Rora G A 9: 69,281,330 (GRCm39) R314H probably damaging Het
Rufy4 T C 1: 74,168,095 (GRCm39) probably benign Het
Sag T C 1: 87,742,402 (GRCm39) V58A probably damaging Het
Serpina3i C T 12: 104,231,423 (GRCm39) T20M probably damaging Het
Slc4a5 A G 6: 83,254,537 (GRCm39) N578S probably benign Het
Soat2 A G 15: 102,066,574 (GRCm39) Y285C probably damaging Het
Syk A G 13: 52,794,769 (GRCm39) Y478C probably damaging Het
Syne4 G A 7: 30,018,344 (GRCm39) G362E probably damaging Het
Tas2r126 A T 6: 42,412,036 (GRCm39) M190L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ttc19 A G 11: 62,199,910 (GRCm39) D218G probably damaging Het
Tut1 T C 19: 8,942,800 (GRCm39) V629A probably damaging Het
Txndc11 T C 16: 10,905,968 (GRCm39) N521D probably benign Het
Ushbp1 T C 8: 71,841,614 (GRCm39) E405G possibly damaging Het
Usp46 C T 5: 74,163,918 (GRCm39) R246Q probably benign Het
Utrn T C 10: 12,610,948 (GRCm39) D469G probably damaging Het
Vmn2r104 T A 17: 20,262,075 (GRCm39) I352F possibly damaging Het
Wdr4 G A 17: 31,715,890 (GRCm39) T398I probably benign Het
Ythdc1 T A 5: 86,968,560 (GRCm39) probably benign Het
Other mutations in Or1j18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02190:Or1j18 APN 2 36,624,591 (GRCm39) missense probably benign 0.03
IGL02417:Or1j18 APN 2 36,624,356 (GRCm39) missense probably benign 0.13
IGL02488:Or1j18 APN 2 36,624,362 (GRCm39) missense probably benign 0.36
IGL02878:Or1j18 APN 2 36,624,489 (GRCm39) missense probably damaging 1.00
IGL03354:Or1j18 APN 2 36,624,525 (GRCm39) missense possibly damaging 0.89
IGL03354:Or1j18 APN 2 36,624,524 (GRCm39) missense possibly damaging 0.87
PIT4403001:Or1j18 UTSW 2 36,624,930 (GRCm39) missense probably damaging 0.99
R0107:Or1j18 UTSW 2 36,624,730 (GRCm39) nonsense probably null
R0457:Or1j18 UTSW 2 36,624,545 (GRCm39) missense probably benign 0.18
R0563:Or1j18 UTSW 2 36,625,013 (GRCm39) nonsense probably null
R1205:Or1j18 UTSW 2 36,624,767 (GRCm39) missense probably benign 0.16
R1599:Or1j18 UTSW 2 36,625,001 (GRCm39) missense probably benign 0.01
R1668:Or1j18 UTSW 2 36,625,204 (GRCm39) nonsense probably null
R1845:Or1j18 UTSW 2 36,624,854 (GRCm39) missense probably damaging 0.99
R1856:Or1j18 UTSW 2 36,624,357 (GRCm39) missense probably benign
R2165:Or1j18 UTSW 2 36,624,713 (GRCm39) missense probably damaging 0.97
R4399:Or1j18 UTSW 2 36,625,242 (GRCm39) missense probably benign 0.00
R4657:Or1j18 UTSW 2 36,624,415 (GRCm39) nonsense probably null
R4684:Or1j18 UTSW 2 36,624,686 (GRCm39) missense probably damaging 1.00
R4767:Or1j18 UTSW 2 36,624,335 (GRCm39) start codon destroyed probably benign 0.02
R4988:Or1j18 UTSW 2 36,624,996 (GRCm39) missense possibly damaging 0.94
R5058:Or1j18 UTSW 2 36,625,011 (GRCm39) missense possibly damaging 0.52
R5103:Or1j18 UTSW 2 36,624,680 (GRCm39) missense probably benign 0.23
R5140:Or1j18 UTSW 2 36,624,510 (GRCm39) missense possibly damaging 0.59
R5587:Or1j18 UTSW 2 36,624,633 (GRCm39) missense probably damaging 1.00
R5591:Or1j18 UTSW 2 36,625,244 (GRCm39) missense probably benign
R6738:Or1j18 UTSW 2 36,624,444 (GRCm39) missense probably benign 0.26
R7097:Or1j18 UTSW 2 36,624,436 (GRCm39) missense probably benign 0.02
R7122:Or1j18 UTSW 2 36,624,436 (GRCm39) missense probably benign 0.02
R7330:Or1j18 UTSW 2 36,625,057 (GRCm39) nonsense probably null
R7485:Or1j18 UTSW 2 36,624,650 (GRCm39) missense probably benign 0.01
R7792:Or1j18 UTSW 2 36,624,342 (GRCm39) missense probably benign 0.01
R7812:Or1j18 UTSW 2 36,624,737 (GRCm39) missense probably benign
R8303:Or1j18 UTSW 2 36,624,467 (GRCm39) missense probably damaging 1.00
R8824:Or1j18 UTSW 2 36,625,203 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTGTGTCCTGGACCTTATCCACTG -3'
(R):5'- TGTGACCACATTGTACATCACAGCC -3'

Sequencing Primer
(F):5'- GGACCTTATCCACTGCCAATG -3'
(R):5'- AGTCCAATGATGGCTCCATAG -3'
Posted On 2013-04-11