Incidental Mutation 'IGL02338:Or1j19'
ID 288926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1j19
Ensembl Gene ENSMUSG00000049315
Gene Name olfactory receptor family 1 subfamily J member 19
Synonyms GA_x6K02T2NLDC-33481050-33481991, Olfr348, MOR136-8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02338
Quality Score
Status
Chromosome 2
Chromosomal Location 36676539-36677480 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 36676557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 7 (Q7*)
Ref Sequence ENSEMBL: ENSMUSP00000150343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056865] [ENSMUST00000112950] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]
AlphaFold Q8VGK3
Predicted Effect probably null
Transcript: ENSMUST00000056865
AA Change: Q7*
SMART Domains Protein: ENSMUSP00000054037
Gene: ENSMUSG00000049315
AA Change: Q7*

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-56 PFAM
Pfam:7TM_GPCR_Srsx 36 306 3e-6 PFAM
Pfam:7tm_1 42 291 2.7e-24 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112950
AA Change: Q7*
SMART Domains Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: Q7*

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 36 306 3e-6 PFAM
Pfam:7tm_1 42 291 3.5e-34 PFAM
Pfam:7tm_4 140 284 3.9e-40 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000213498
AA Change: Q7*
Predicted Effect probably null
Transcript: ENSMUST00000214909
AA Change: Q7*
Predicted Effect probably null
Transcript: ENSMUST00000215199
AA Change: Q7*
Predicted Effect probably benign
Transcript: ENSMUST00000216753
Predicted Effect probably benign
Transcript: ENSMUST00000217041
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 132,789,860 (GRCm39) C367Y possibly damaging Het
AI182371 T A 2: 34,975,728 (GRCm39) I279L probably benign Het
Ambp A T 4: 63,061,934 (GRCm39) C332S probably damaging Het
App T C 16: 84,970,407 (GRCm39) T14A probably benign Het
Asap1 A T 15: 63,995,519 (GRCm39) probably null Het
Aurka T C 2: 172,201,778 (GRCm39) R242G probably benign Het
BC034090 G A 1: 155,093,217 (GRCm39) P747L probably damaging Het
Bcl6b T C 11: 70,119,918 (GRCm39) D23G probably damaging Het
Cabp2 A C 19: 4,134,154 (GRCm39) E42A possibly damaging Het
Ccdc14 G A 16: 34,542,173 (GRCm39) S557N probably benign Het
Ccdc146 G T 5: 21,524,604 (GRCm39) probably benign Het
Cenpf T A 1: 189,412,615 (GRCm39) Q216L probably damaging Het
Ces1b G A 8: 93,783,675 (GRCm39) P515L possibly damaging Het
Col6a5 A T 9: 105,755,829 (GRCm39) N2198K probably damaging Het
Csmd2 A G 4: 128,288,859 (GRCm39) S1133G possibly damaging Het
Cspg5 G A 9: 110,085,335 (GRCm39) R502H probably benign Het
Cyp2g1 A G 7: 26,514,229 (GRCm39) probably benign Het
Dnajc27 A G 12: 4,146,229 (GRCm39) Y86C probably damaging Het
Dnm1 T C 2: 32,202,783 (GRCm39) D715G probably damaging Het
Dock1 G T 7: 134,734,804 (GRCm39) L1317F possibly damaging Het
Fanci T A 7: 79,083,279 (GRCm39) Y727* probably null Het
Fbxw20 T A 9: 109,055,046 (GRCm39) T168S probably benign Het
Folh1 A T 7: 86,385,723 (GRCm39) probably benign Het
Gas7 A T 11: 67,573,557 (GRCm39) S379C probably damaging Het
Gbp2b A G 3: 142,309,987 (GRCm39) E259G probably benign Het
Gm8325 T C 3: 60,784,805 (GRCm39) noncoding transcript Het
Gpr75 A T 11: 30,841,730 (GRCm39) T212S probably benign Het
Itgb4 A G 11: 115,898,795 (GRCm39) T1711A probably damaging Het
Ly75 T C 2: 60,184,796 (GRCm39) S453G probably benign Het
Maneal A G 4: 124,754,276 (GRCm39) probably benign Het
Marco A T 1: 120,422,508 (GRCm39) I58N possibly damaging Het
Mtcl1 A G 17: 66,686,965 (GRCm39) I647T probably damaging Het
Mtfr1l A T 4: 134,258,054 (GRCm39) V56D probably damaging Het
Npy1r G A 8: 67,156,954 (GRCm39) V125I probably damaging Het
Or52n20 T C 7: 104,320,888 (GRCm39) probably benign Het
Or7g25 A G 9: 19,159,960 (GRCm39) L245P probably damaging Het
Osmr A T 15: 6,867,210 (GRCm39) L362* probably null Het
Pdlim2 T C 14: 70,411,906 (GRCm39) D42G probably damaging Het
Plcb4 T A 2: 135,842,100 (GRCm39) I89N possibly damaging Het
Prrc2b T A 2: 32,104,047 (GRCm39) M1175K probably benign Het
Pzp T A 6: 128,463,133 (GRCm39) N1423I probably benign Het
Retnla G A 16: 48,664,561 (GRCm39) C105Y probably damaging Het
Samd8 T A 14: 21,825,544 (GRCm39) S167T possibly damaging Het
Scg2 A G 1: 79,414,210 (GRCm39) M171T possibly damaging Het
Slc30a5 A G 13: 100,939,941 (GRCm39) V658A probably damaging Het
Slc41a2 T C 10: 83,152,455 (GRCm39) R7G possibly damaging Het
Slc44a2 A G 9: 21,258,338 (GRCm39) T500A probably damaging Het
Slc44a4 G T 17: 35,142,786 (GRCm39) G396V possibly damaging Het
Smarca5 A G 8: 81,446,199 (GRCm39) probably benign Het
St8sia6 T A 2: 13,798,156 (GRCm39) R34W probably damaging Het
Stk-ps2 T A 1: 46,069,337 (GRCm39) noncoding transcript Het
Stn1 T C 19: 47,502,329 (GRCm39) Y235C probably damaging Het
Tbx15 A G 3: 99,259,800 (GRCm39) Y557C probably damaging Het
Tgfbr1 G A 4: 47,393,490 (GRCm39) probably null Het
Thsd7b G T 1: 129,523,508 (GRCm39) V181L probably damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Trpm4 T G 7: 44,976,422 (GRCm39) R51S probably damaging Het
Vmn1r91 A T 7: 19,835,671 (GRCm39) T197S probably damaging Het
Vmn2r-ps158 T C 7: 42,697,160 (GRCm39) I739T probably damaging Het
Xrn1 A G 9: 95,859,880 (GRCm39) D424G probably benign Het
Yap1 A G 9: 7,962,282 (GRCm39) probably null Het
Zer1 T C 2: 30,003,405 (GRCm39) D4G probably damaging Het
Zfp462 A T 4: 55,010,292 (GRCm39) I753F possibly damaging Het
Other mutations in Or1j19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01388:Or1j19 APN 2 36,677,367 (GRCm39) missense probably benign 0.03
IGL01943:Or1j19 APN 2 36,677,095 (GRCm39) missense probably benign 0.13
IGL02030:Or1j19 APN 2 36,677,410 (GRCm39) missense probably damaging 1.00
IGL02349:Or1j19 APN 2 36,677,058 (GRCm39) missense possibly damaging 0.95
IGL02695:Or1j19 APN 2 36,677,332 (GRCm39) missense possibly damaging 0.72
IGL03004:Or1j19 APN 2 36,677,194 (GRCm39) missense probably damaging 1.00
IGL03007:Or1j19 APN 2 36,676,812 (GRCm39) missense probably damaging 0.99
IGL03024:Or1j19 APN 2 36,676,858 (GRCm39) missense possibly damaging 0.55
R0360:Or1j19 UTSW 2 36,677,452 (GRCm39) missense probably benign 0.03
R0388:Or1j19 UTSW 2 36,676,874 (GRCm39) missense probably benign 0.43
R0614:Or1j19 UTSW 2 36,676,705 (GRCm39) missense probably damaging 1.00
R1498:Or1j19 UTSW 2 36,677,358 (GRCm39) missense probably damaging 1.00
R1562:Or1j19 UTSW 2 36,676,696 (GRCm39) missense probably damaging 1.00
R2882:Or1j19 UTSW 2 36,677,202 (GRCm39) missense probably damaging 1.00
R3731:Or1j19 UTSW 2 36,676,578 (GRCm39) missense possibly damaging 0.53
R4513:Or1j19 UTSW 2 36,676,782 (GRCm39) missense probably benign 0.05
R4899:Or1j19 UTSW 2 36,676,810 (GRCm39) missense probably benign 0.04
R5005:Or1j19 UTSW 2 36,677,370 (GRCm39) missense probably benign
R5035:Or1j19 UTSW 2 36,676,903 (GRCm39) missense probably damaging 1.00
R5490:Or1j19 UTSW 2 36,677,193 (GRCm39) missense probably damaging 1.00
R6361:Or1j19 UTSW 2 36,676,792 (GRCm39) missense probably damaging 1.00
R7762:Or1j19 UTSW 2 36,677,022 (GRCm39) missense probably benign 0.03
R8109:Or1j19 UTSW 2 36,676,618 (GRCm39) missense probably benign 0.00
R8223:Or1j19 UTSW 2 36,677,409 (GRCm39) missense
R8826:Or1j19 UTSW 2 36,676,855 (GRCm39) nonsense probably null
R8906:Or1j19 UTSW 2 36,676,621 (GRCm39) missense probably benign 0.01
R9138:Or1j19 UTSW 2 36,676,702 (GRCm39) missense probably benign 0.00
R9147:Or1j19 UTSW 2 36,676,938 (GRCm39) missense probably benign 0.01
R9148:Or1j19 UTSW 2 36,676,938 (GRCm39) missense probably benign 0.01
R9267:Or1j19 UTSW 2 36,676,530 (GRCm39) unclassified probably benign
R9306:Or1j19 UTSW 2 36,677,407 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16