Incidental Mutation 'IGL03144:Or1j21'
ID 410811
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1j21
Ensembl Gene ENSMUSG00000111021
Gene Name olfactory receptor family 1 subfamily J member 21
Synonyms MOR136-6, GA_x6K02T2NLDC-33487752-33488690, ID3, Olfr50
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # IGL03144
Quality Score
Status
Chromosome 2
Chromosomal Location 36683250-36684188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36684093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 282 (T282A)
Ref Sequence ENSEMBL: ENSMUSP00000149484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072114] [ENSMUST00000112950] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]
AlphaFold Q8VGK5
Predicted Effect probably benign
Transcript: ENSMUST00000072114
AA Change: T282A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071985
Gene: ENSMUSG00000068950
AA Change: T282A

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.3e-57 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.8e-8 PFAM
Pfam:7tm_1 41 290 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112950
AA Change: T282A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: T282A

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 benign
Transcript: ENSMUST00000213498
Predicted Effect probably benign
Transcript: ENSMUST00000214909
Predicted Effect probably benign
Transcript: ENSMUST00000215199
Predicted Effect probably benign
Transcript: ENSMUST00000216753
AA Change: T282A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000217041
AA Change: T282A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C A 17: 24,600,938 (GRCm39) Q451K probably benign Het
Acly A T 11: 100,405,909 (GRCm39) D294E possibly damaging Het
Arid3a C T 10: 79,782,316 (GRCm39) probably benign Het
Ascc3 T C 10: 50,643,539 (GRCm39) V1830A probably benign Het
Atp6v1b1 T C 6: 83,735,333 (GRCm39) V467A probably benign Het
Ccdc171 A T 4: 83,736,327 (GRCm39) I1233L probably damaging Het
Ccdc74a C A 16: 17,466,730 (GRCm39) Q146K possibly damaging Het
Cdh26 A G 2: 178,109,967 (GRCm39) D420G probably damaging Het
Ceacam20 T C 7: 19,705,444 (GRCm39) V145A possibly damaging Het
Cmya5 C A 13: 93,227,376 (GRCm39) A2571S probably damaging Het
Cog2 T C 8: 125,267,763 (GRCm39) S360P probably damaging Het
Col26a1 G T 5: 136,794,202 (GRCm39) T132N probably damaging Het
Col6a2 T A 10: 76,450,259 (GRCm39) H224L probably benign Het
Cpm C T 10: 117,519,319 (GRCm39) S409L probably benign Het
Dock4 G T 12: 40,742,906 (GRCm39) probably benign Het
Dpy19l2 T A 9: 24,557,603 (GRCm39) N391Y possibly damaging Het
Exosc9 G A 3: 36,608,284 (GRCm39) G126D probably damaging Het
Eya3 T C 4: 132,420,453 (GRCm39) S256P probably benign Het
Fat3 T C 9: 16,286,541 (GRCm39) D994G probably damaging Het
Fat4 A G 3: 39,011,008 (GRCm39) Q2036R possibly damaging Het
Fryl T C 5: 73,258,798 (GRCm39) Q662R probably null Het
Gm13271 A G 4: 88,673,636 (GRCm39) R178G probably benign Het
Gpr165 T A X: 95,760,560 (GRCm39) L279Q probably damaging Het
Htr1b A G 9: 81,513,998 (GRCm39) L203P probably damaging Het
Kcnb2 T C 1: 15,780,112 (GRCm39) L328P probably damaging Het
Klhl26 C T 8: 70,905,214 (GRCm39) R198H probably damaging Het
Nhsl2 A G X: 101,123,115 (GRCm39) R973G possibly damaging Het
Nmi A T 2: 51,842,546 (GRCm39) F182Y probably damaging Het
Nop2 T A 6: 125,114,475 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Ooep G T 9: 78,285,289 (GRCm39) A109E possibly damaging Het
Pan3 T C 5: 147,387,591 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,467,459 (GRCm39) N127D probably damaging Het
Rabgap1 G A 2: 37,430,544 (GRCm39) R695H probably damaging Het
Rxrg G A 1: 167,426,327 (GRCm39) G3R possibly damaging Het
Slc17a3 T C 13: 24,030,423 (GRCm39) M178T probably benign Het
Slc39a8 A G 3: 135,589,971 (GRCm39) E287G probably benign Het
Slc44a5 G T 3: 153,949,177 (GRCm39) D217Y possibly damaging Het
Slc4a10 G T 2: 62,080,810 (GRCm39) V346L probably benign Het
Slc9a4 T C 1: 40,651,362 (GRCm39) Y547H probably damaging Het
St6galnac3 A C 3: 152,911,164 (GRCm39) Y266D probably damaging Het
Stard6 A T 18: 70,609,182 (GRCm39) Y3F possibly damaging Het
Stk25 C A 1: 93,556,858 (GRCm39) L53F probably damaging Het
Tep1 A T 14: 51,081,474 (GRCm39) probably benign Het
Tmem151a T A 19: 5,135,400 (GRCm39) M1L probably benign Het
Trim10 T C 17: 37,187,740 (GRCm39) S319P probably damaging Het
Trmt44 G T 5: 35,721,766 (GRCm39) P466T probably benign Het
Unc79 T C 12: 103,008,401 (GRCm39) I256T probably damaging Het
Vmn2r125 G T 4: 156,702,314 (GRCm39) L33F possibly damaging Het
Other mutations in Or1j21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Or1j21 APN 2 36,684,012 (GRCm39) missense probably benign 0.05
IGL02316:Or1j21 APN 2 36,683,632 (GRCm39) missense probably damaging 0.98
IGL02330:Or1j21 APN 2 36,683,907 (GRCm39) missense probably benign 0.00
R0092:Or1j21 UTSW 2 36,683,508 (GRCm39) missense probably benign 0.06
R0113:Or1j21 UTSW 2 36,684,007 (GRCm39) missense probably damaging 0.99
R0113:Or1j21 UTSW 2 36,684,006 (GRCm39) missense probably damaging 0.98
R0604:Or1j21 UTSW 2 36,684,119 (GRCm39) nonsense probably null
R0932:Or1j21 UTSW 2 36,683,903 (GRCm39) nonsense probably null
R1191:Or1j21 UTSW 2 36,683,350 (GRCm39) missense probably damaging 0.97
R1238:Or1j21 UTSW 2 36,683,601 (GRCm39) missense probably damaging 1.00
R1525:Or1j21 UTSW 2 36,684,155 (GRCm39) missense probably null 0.01
R3103:Or1j21 UTSW 2 36,683,574 (GRCm39) missense possibly damaging 0.80
R3955:Or1j21 UTSW 2 36,683,565 (GRCm39) missense probably benign 0.34
R4573:Or1j21 UTSW 2 36,683,491 (GRCm39) missense probably damaging 1.00
R5256:Or1j21 UTSW 2 36,683,685 (GRCm39) missense probably benign
R5650:Or1j21 UTSW 2 36,683,277 (GRCm39) missense probably benign 0.36
R6130:Or1j21 UTSW 2 36,684,055 (GRCm39) missense probably benign 0.01
R6175:Or1j21 UTSW 2 36,683,980 (GRCm39) missense probably damaging 1.00
R6320:Or1j21 UTSW 2 36,683,585 (GRCm39) missense possibly damaging 0.90
R6481:Or1j21 UTSW 2 36,683,789 (GRCm39) missense possibly damaging 0.63
R7164:Or1j21 UTSW 2 36,683,709 (GRCm39) missense probably benign 0.34
R7622:Or1j21 UTSW 2 36,683,943 (GRCm39) missense probably benign 0.06
R8391:Or1j21 UTSW 2 36,684,096 (GRCm39) missense probably damaging 0.99
R8846:Or1j21 UTSW 2 36,683,689 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02