Incidental Mutation 'IGL01548:Olfr1000'
ID 93184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1000
Ensembl Gene ENSMUSG00000075215
Gene Name olfactory receptor 1000
Synonyms MOR175-9, GA_x6K02T2Q125-47087719-47086775
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL01548
Quality Score
Status
Chromosome 2
Chromosomal Location 85607037-85611903 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85608761 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 50 (W50R)
Ref Sequence ENSEMBL: ENSMUSP00000150731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099921] [ENSMUST00000213837] [ENSMUST00000216571]
AlphaFold Q7TR99
Predicted Effect probably benign
Transcript: ENSMUST00000099921
AA Change: W50R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097505
Gene: ENSMUSG00000075215
AA Change: W50R

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.1e-49 PFAM
Pfam:7tm_1 41 290 2.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213837
AA Change: W50R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216571
AA Change: W50R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,814,259 N110D probably damaging Het
Acot3 C T 12: 84,057,089 T224I probably benign Het
Adamts18 C T 8: 113,764,299 G512E probably damaging Het
Atp4b A G 8: 13,389,679 I181T probably damaging Het
Bcl11a A G 11: 24,163,346 I230V probably benign Het
Cenpj C A 14: 56,532,319 V1138L probably benign Het
Cep78 A G 19: 15,981,200 probably benign Het
Clec2j T A 6: 128,655,978 noncoding transcript Het
Col5a3 T C 9: 20,803,000 probably benign Het
Cpne6 A T 14: 55,512,726 T105S probably damaging Het
Csmd1 A T 8: 16,288,646 Y482* probably null Het
Ctrl C A 8: 105,933,258 probably benign Het
Dhcr24 T A 4: 106,573,871 C252* probably null Het
Dnah17 G A 11: 118,098,612 P1261S probably benign Het
Dnaic2 T C 11: 114,752,942 L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,831,405 S191A probably damaging Het
Fam205c T C 4: 42,868,564 E353G probably benign Het
Fat4 G A 3: 39,009,257 C4454Y probably damaging Het
Fat4 T C 3: 38,887,758 S267P probably damaging Het
Frrs1 T C 3: 116,885,185 C219R probably damaging Het
Gabra6 T A 11: 42,317,023 Q207L probably damaging Het
Gm19668 A T 10: 77,798,408 C242* probably null Het
Gm2840 G A 5: 96,174,277 noncoding transcript Het
Gm6614 A G 6: 141,992,512 I227T possibly damaging Het
Gm8765 A G 13: 50,700,378 T91A probably benign Het
Gmcl1p1 G A X: 3,078,226 G423S probably benign Het
Golim4 C T 3: 75,908,125 probably null Het
Gucy1b1 G T 3: 82,034,862 T530K probably damaging Het
Hacl1 A T 14: 31,640,596 D31E possibly damaging Het
Hectd4 A G 5: 121,364,660 T4276A possibly damaging Het
Henmt1 T C 3: 108,942,779 I26T probably damaging Het
Hspa1l G A 17: 34,978,391 A469T probably damaging Het
Htra3 T A 5: 35,664,076 probably null Het
Lrrc28 C A 7: 67,628,294 probably null Het
Mfhas1 T C 8: 35,590,459 L696P probably damaging Het
Mios A G 6: 8,234,252 K808E possibly damaging Het
Mtnr1b A G 9: 15,863,200 Y188H probably damaging Het
Myom1 A G 17: 71,101,220 probably benign Het
Naca A T 10: 128,040,904 probably benign Het
Nckap1l T A 15: 103,462,720 V213D probably benign Het
Ndufa6 C T 15: 82,354,081 V50M possibly damaging Het
Olfr1055 T A 2: 86,347,733 Y11F possibly damaging Het
Olfr1260 T A 2: 89,978,539 F254I possibly damaging Het
Olfr1465 A G 19: 13,313,986 F100L possibly damaging Het
Olfr923 A G 9: 38,828,350 T220A probably benign Het
Osbpl1a T C 18: 12,763,575 Y311C probably damaging Het
Parp11 A C 6: 127,491,599 Y204S probably damaging Het
Pla2g4a A G 1: 149,932,656 probably null Het
Plec T C 15: 76,189,258 R519G probably benign Het
Ppp2r5c T A 12: 110,567,827 Y375N probably benign Het
Prss35 C A 9: 86,755,274 S32R probably benign Het
Prss57 C T 10: 79,785,747 probably benign Het
Ptprc A C 1: 138,099,481 probably null Het
Rims1 A G 1: 22,538,602 C188R probably damaging Het
Ripk4 G T 16: 97,751,496 Y144* probably null Het
Rpgrip1 A T 14: 52,126,271 probably benign Het
Rps6ka4 A G 19: 6,832,323 V378A probably benign Het
Rtf1 A G 2: 119,712,108 K298E probably benign Het
Sdk1 T C 5: 142,085,765 F1237L possibly damaging Het
Slc40a1 T C 1: 45,909,492 K543E probably benign Het
Sorcs3 A T 19: 48,794,168 I1041F possibly damaging Het
Taok3 T C 5: 117,272,197 M818T probably benign Het
Tas2r119 T A 15: 32,177,977 F230I probably damaging Het
Tbc1d8 T C 1: 39,381,304 D716G probably damaging Het
Tfg A G 16: 56,701,102 S58P probably damaging Het
Thnsl1 A G 2: 21,213,132 I45V probably damaging Het
Tle1 A G 4: 72,170,718 L96P probably damaging Het
Tmem260 A C 14: 48,480,325 S276R possibly damaging Het
Utp20 A G 10: 88,764,781 S24P probably damaging Het
Vcam1 T C 3: 116,115,951 I576V probably benign Het
Vmn1r27 G T 6: 58,215,553 N105K probably benign Het
Vmn2r12 A C 5: 109,093,027 Y73* probably null Het
Vmn2r86 T C 10: 130,446,282 I822V probably benign Het
Wdr6 C T 9: 108,574,897 V596I possibly damaging Het
Zfp946 A T 17: 22,454,662 K132N possibly damaging Het
Other mutations in Olfr1000
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01872:Olfr1000 APN 2 85608329 missense probably benign
IGL01955:Olfr1000 APN 2 85608707 missense probably benign 0.12
IGL02132:Olfr1000 APN 2 85608320 missense probably benign 0.00
IGL02139:Olfr1000 APN 2 85608230 nonsense probably null
IGL02717:Olfr1000 APN 2 85608772 missense probably damaging 1.00
IGL02950:Olfr1000 APN 2 85608157 missense possibly damaging 0.92
R1866:Olfr1000 UTSW 2 85608844 missense probably benign 0.05
R1868:Olfr1000 UTSW 2 85608065 missense probably damaging 0.98
R1869:Olfr1000 UTSW 2 85608500 missense probably benign 0.23
R2256:Olfr1000 UTSW 2 85608463 missense possibly damaging 0.81
R2919:Olfr1000 UTSW 2 85608410 missense probably benign 0.06
R4736:Olfr1000 UTSW 2 85607983 missense probably benign
R5197:Olfr1000 UTSW 2 85608447 missense probably benign 0.01
R5256:Olfr1000 UTSW 2 85608473 missense probably benign
R5367:Olfr1000 UTSW 2 85608374 missense probably damaging 0.99
R5389:Olfr1000 UTSW 2 85608283 missense probably benign
R6991:Olfr1000 UTSW 2 85608248 missense possibly damaging 0.76
R7017:Olfr1000 UTSW 2 85608329 missense probably benign
R7020:Olfr1000 UTSW 2 85608632 missense probably benign 0.11
R7352:Olfr1000 UTSW 2 85608784 missense probably damaging 1.00
R7392:Olfr1000 UTSW 2 85608488 missense possibly damaging 0.61
R7586:Olfr1000 UTSW 2 85608184 missense probably damaging 0.99
R7727:Olfr1000 UTSW 2 85608407 missense possibly damaging 0.72
R8053:Olfr1000 UTSW 2 85608890 missense probably damaging 0.98
R8108:Olfr1000 UTSW 2 85608749 missense possibly damaging 0.94
R9332:Olfr1000 UTSW 2 85607987 nonsense probably null
Posted On 2013-12-09