Incidental Mutation 'IGL02944:Or1n1b'
ID 364648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1n1b
Ensembl Gene ENSMUSG00000075382
Gene Name olfactory receptor family 1 subfamily N member 1B
Synonyms GA_x6K02T2NLDC-33585366-33584431, Olfr353, MOR127-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # IGL02944
Quality Score
Status
Chromosome 2
Chromosomal Location 36779923-36780858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 36780800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 20 (E20A)
Ref Sequence ENSEMBL: ENSMUSP00000149378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100149] [ENSMUST00000215925] [ENSMUST00000217215]
AlphaFold Q8VGK0
Predicted Effect possibly damaging
Transcript: ENSMUST00000100149
AA Change: E20A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097726
Gene: ENSMUSG00000075382
AA Change: E20A

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-56 PFAM
Pfam:7tm_1 39 288 3e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215925
AA Change: E20A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217215
AA Change: E20A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,258,405 (GRCm39) Q343R probably benign Het
Antxr1 T A 6: 87,165,141 (GRCm39) N432I possibly damaging Het
Arhgap15 T C 2: 44,032,362 (GRCm39) probably null Het
Atp6v1h T A 1: 5,163,578 (GRCm39) probably benign Het
Cav2 T C 6: 17,281,456 (GRCm39) Y33H probably damaging Het
Ccdc175 T A 12: 72,164,667 (GRCm39) D585V probably benign Het
Coro7 T C 16: 4,453,276 (GRCm39) D271G probably benign Het
Cylc1 T A X: 110,167,373 (GRCm39) D551E possibly damaging Het
Dnah1 A T 14: 31,022,828 (GRCm39) I1103N possibly damaging Het
Gmds T A 13: 32,522,435 (GRCm39) Y11F probably benign Het
Igkv13-54-1 C T 6: 69,594,374 (GRCm39) noncoding transcript Het
Irf8 A G 8: 121,481,864 (GRCm39) T318A probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Mageb11 A G X: 89,935,868 (GRCm39) K41E probably benign Het
Mbd1 G A 18: 74,410,481 (GRCm39) G428E probably damaging Het
Myom2 A T 8: 15,154,065 (GRCm39) probably null Het
Nav2 C T 7: 49,070,004 (GRCm39) R287W probably damaging Het
Nfs1 C T 2: 155,969,688 (GRCm39) D320N probably damaging Het
Nlrp9a A T 7: 26,258,076 (GRCm39) T565S probably benign Het
Nod1 A T 6: 54,901,932 (GRCm39) I951N possibly damaging Het
Or2ag1b A G 7: 106,288,476 (GRCm39) L154P probably damaging Het
Or52e8b A G 7: 104,674,130 (GRCm39) L19P probably damaging Het
Or8d2 A T 9: 38,760,048 (GRCm39) I213F possibly damaging Het
Pkhd1l1 T C 15: 44,364,927 (GRCm39) Y689H probably damaging Het
Ppp2r5c A G 12: 110,534,234 (GRCm39) I366V probably benign Het
Ppp3cb T C 14: 20,578,303 (GRCm39) Y149C probably damaging Het
Prdm1 T C 10: 44,317,807 (GRCm39) S354G probably benign Het
Ralgapa1 T A 12: 55,804,736 (GRCm39) Q520L probably benign Het
Slc25a54 A T 3: 108,987,931 (GRCm39) Y24F probably benign Het
Slfn3 T A 11: 83,103,837 (GRCm39) V236E probably damaging Het
Syt6 A G 3: 103,482,865 (GRCm39) probably benign Het
Trim30a G T 7: 104,084,984 (GRCm39) N75K probably benign Het
Vmn1r175 T C 7: 23,508,591 (GRCm39) E12G probably damaging Het
Xylt1 A T 7: 117,233,984 (GRCm39) T504S probably benign Het
Other mutations in Or1n1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02706:Or1n1b APN 2 36,780,731 (GRCm39) missense probably damaging 1.00
R0101:Or1n1b UTSW 2 36,780,138 (GRCm39) missense probably damaging 1.00
R0118:Or1n1b UTSW 2 36,780,035 (GRCm39) missense probably benign 0.07
R0276:Or1n1b UTSW 2 36,780,035 (GRCm39) missense probably benign 0.26
R0944:Or1n1b UTSW 2 36,780,698 (GRCm39) missense probably damaging 1.00
R0975:Or1n1b UTSW 2 36,780,562 (GRCm39) missense possibly damaging 0.52
R1895:Or1n1b UTSW 2 36,780,458 (GRCm39) missense possibly damaging 0.92
R1946:Or1n1b UTSW 2 36,780,458 (GRCm39) missense possibly damaging 0.92
R2847:Or1n1b UTSW 2 36,780,536 (GRCm39) missense probably damaging 1.00
R4573:Or1n1b UTSW 2 36,780,202 (GRCm39) missense probably damaging 1.00
R4631:Or1n1b UTSW 2 36,780,630 (GRCm39) missense probably benign 0.01
R4647:Or1n1b UTSW 2 36,780,663 (GRCm39) missense probably benign 0.00
R4918:Or1n1b UTSW 2 36,780,344 (GRCm39) missense probably damaging 0.98
R4967:Or1n1b UTSW 2 36,780,719 (GRCm39) missense probably damaging 1.00
R5102:Or1n1b UTSW 2 36,780,056 (GRCm39) missense possibly damaging 0.87
R5188:Or1n1b UTSW 2 36,780,405 (GRCm39) missense probably benign
R5392:Or1n1b UTSW 2 36,780,686 (GRCm39) missense probably benign 0.34
R5608:Or1n1b UTSW 2 36,780,527 (GRCm39) missense probably damaging 1.00
R6527:Or1n1b UTSW 2 36,780,594 (GRCm39) missense probably benign 0.02
R8508:Or1n1b UTSW 2 36,780,366 (GRCm39) missense probably damaging 1.00
R8820:Or1n1b UTSW 2 36,780,622 (GRCm39) missense probably benign 0.01
R9052:Or1n1b UTSW 2 36,780,105 (GRCm39) missense probably damaging 1.00
X0017:Or1n1b UTSW 2 36,779,999 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18