Incidental Mutation 'R5490:Or1j19'
ID 432024
Institutional Source Beutler Lab
Gene Symbol Or1j19
Ensembl Gene ENSMUSG00000049315
Gene Name olfactory receptor family 1 subfamily J member 19
Synonyms GA_x6K02T2NLDC-33481050-33481991, Olfr348, MOR136-8
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 36676539-36677480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36677193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 219 (Y219N)
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 damaging
Transcript: ENSMUST00000056865
AA Change: Y219N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054037
Gene: ENSMUSG00000049315
AA Change: Y219N

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 damaging
Transcript: ENSMUST00000112950
AA Change: Y219N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: Y219N

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 damaging
Transcript: ENSMUST00000213498
AA Change: Y219N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214909
AA Change: Y219N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215199
AA Change: Y219N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216753
Predicted Effect probably benign
Transcript: ENSMUST00000217041
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably 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
IGL02338:Or1j19 APN 2 36,676,557 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ATCATTTGCTGGTGCCCTTG -3'
(R):5'- GGGATTCAACATGGGTGTGAC -3'

Sequencing Primer
(F):5'- TGGTGCCCTTGTGCACAC -3'
(R):5'- GGTGTGACCATAGTGTACATCAC -3'
Posted On 2016-10-05