Incidental Mutation 'IGL02926:Olfr1260'
ID363863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1260
Ensembl Gene ENSMUSG00000042894
Gene Nameolfactory receptor 1260
SynonymsGA_x6K02T2Q125-51409740-51410672, MOR232-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL02926
Quality Score
Status
Chromosome2
Chromosomal Location89974340-89981586 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89978162 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 128 (L128P)
Ref Sequence ENSEMBL: ENSMUSP00000151110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061830] [ENSMUST00000111512] [ENSMUST00000144710] [ENSMUST00000214630] [ENSMUST00000216678]
Predicted Effect probably damaging
Transcript: ENSMUST00000061830
AA Change: L128P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053523
Gene: ENSMUSG00000042894
AA Change: L128P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.7e-45 PFAM
Pfam:7tm_1 39 285 1.7e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111512
AA Change: L128P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107137
Gene: ENSMUSG00000042894
AA Change: L128P

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 7.4e-27 PFAM
Pfam:7tm_4 137 278 2.4e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144613
Predicted Effect probably damaging
Transcript: ENSMUST00000144710
AA Change: L128P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119512
Gene: ENSMUSG00000042894
AA Change: L128P

DomainStartEndE-ValueType
Pfam:7tm_1 39 121 4.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213162
Predicted Effect probably damaging
Transcript: ENSMUST00000214630
AA Change: L128P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216744
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C T 2: 130,712,366 R921K probably benign Het
Alms1 A T 6: 85,641,450 D2826V probably damaging Het
Alpl C T 4: 137,742,634 A460T probably damaging Het
C2cd5 A G 6: 143,031,237 probably benign Het
C4b C T 17: 34,730,712 R1468Q possibly damaging Het
Calu A G 6: 29,366,920 T44A possibly damaging Het
Cgn T C 3: 94,778,016 K399R probably benign Het
Cyp2t4 G A 7: 27,157,803 V356M probably damaging Het
D430041D05Rik T C 2: 104,214,259 D683G probably damaging Het
Dhcr24 T A 4: 106,586,355 I410N probably damaging Het
Dmap1 T A 4: 117,681,888 E17V probably benign Het
Dnah7a A G 1: 53,495,950 I2717T possibly damaging Het
Epb41l3 G T 17: 69,247,746 K280N probably damaging Het
Espl1 T A 15: 102,299,855 M432K probably damaging Het
Fgf5 C A 5: 98,262,015 A141E probably damaging Het
Fto T A 8: 91,485,167 F373L probably damaging Het
Gpatch1 T C 7: 35,308,269 D122G probably damaging Het
Ints11 T C 4: 155,888,111 probably null Het
Jarid2 A G 13: 44,902,929 Q398R probably benign Het
Kcnh1 A G 1: 192,276,900 D254G probably damaging Het
Lamc3 C T 2: 31,935,725 probably benign Het
Lamc3 C T 2: 31,935,726 probably benign Het
Ltbp4 T C 7: 27,328,872 probably null Het
Mcm6 A G 1: 128,339,382 Y575H probably damaging Het
Myh9 A C 15: 77,787,626 Y422D probably damaging Het
Narfl A G 17: 25,782,154 H460R probably benign Het
Olfr1458 A C 19: 13,102,823 N160K possibly damaging Het
Olfr911-ps1 T C 9: 38,523,725 probably benign Het
Plcb1 T C 2: 135,364,762 probably benign Het
Pmfbp1 A G 8: 109,520,249 E251G probably damaging Het
Psg27 A T 7: 18,557,129 V383E probably damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rbl1 A G 2: 157,167,413 V734A probably benign Het
Rspry1 T A 8: 94,649,811 N320K probably damaging Het
Ryr1 A T 7: 29,061,540 V3219D probably damaging Het
Ryr2 C A 13: 11,759,835 W1145L probably damaging Het
Scel A T 14: 103,576,247 R319* probably null Het
Stxbp2 C T 8: 3,635,629 T226I probably benign Het
Tac1 A T 6: 7,562,410 N106I possibly damaging Het
Trim13 G T 14: 61,605,244 probably null Het
Tspan31 T G 10: 127,068,909 probably null Het
Usp36 C T 11: 118,264,783 V723M probably benign Het
Utrn A T 10: 12,690,760 N1219K probably damaging Het
Vcan G T 13: 89,688,623 T2934K probably damaging Het
Other mutations in Olfr1260
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Olfr1260 APN 2 89978539 missense possibly damaging 0.69
IGL01657:Olfr1260 APN 2 89977877 missense probably damaging 1.00
IGL01942:Olfr1260 APN 2 89977978 missense probably benign 0.03
IGL02139:Olfr1260 APN 2 89978429 missense possibly damaging 0.80
IGL03110:Olfr1260 APN 2 89978149 missense probably damaging 1.00
IGL03368:Olfr1260 APN 2 89977789 missense probably benign
R0046:Olfr1260 UTSW 2 89978507 missense probably damaging 1.00
R0046:Olfr1260 UTSW 2 89978507 missense probably damaging 1.00
R0087:Olfr1260 UTSW 2 89978131 missense probably damaging 1.00
R0599:Olfr1260 UTSW 2 89978201 missense probably benign 0.01
R1208:Olfr1260 UTSW 2 89978492 missense probably damaging 0.99
R1208:Olfr1260 UTSW 2 89978492 missense probably damaging 0.99
R1424:Olfr1260 UTSW 2 89978071 nonsense probably null
R1503:Olfr1260 UTSW 2 89978528 missense probably damaging 0.99
R1708:Olfr1260 UTSW 2 89978038 missense probably benign 0.00
R1863:Olfr1260 UTSW 2 89978410 missense probably benign 0.02
R1866:Olfr1260 UTSW 2 89978327 missense probably damaging 1.00
R2072:Olfr1260 UTSW 2 89978213 missense probably benign 0.04
R2219:Olfr1260 UTSW 2 89977912 missense possibly damaging 0.62
R4606:Olfr1260 UTSW 2 89978006 missense possibly damaging 0.79
R4674:Olfr1260 UTSW 2 89977906 missense possibly damaging 0.52
R4825:Olfr1260 UTSW 2 89978153 missense probably damaging 1.00
R5822:Olfr1260 UTSW 2 89978443 missense probably damaging 1.00
R6487:Olfr1260 UTSW 2 89977838 missense probably benign 0.31
R6706:Olfr1260 UTSW 2 89978585 missense probably damaging 0.96
R7961:Olfr1260 UTSW 2 89977787 missense probably benign
X0050:Olfr1260 UTSW 2 89978016 missense possibly damaging 0.94
Posted On2015-12-18