Incidental Mutation 'IGL02386:Olfr1258'
ID291561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1258
Ensembl Gene ENSMUSG00000049149
Gene Nameolfactory receptor 1258
SynonymsGA_x6K02T2Q125-51361752-51362687, MOR232-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02386
Quality Score
Status
Chromosome2
Chromosomal Location89927309-89936334 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89930544 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 245 (V245A)
Ref Sequence ENSEMBL: ENSMUSP00000149547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102609] [ENSMUST00000111516] [ENSMUST00000213720]
Predicted Effect probably damaging
Transcript: ENSMUST00000102609
AA Change: V245A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099669
Gene: ENSMUSG00000049149
AA Change: V245A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.6e-52 PFAM
Pfam:7TM_GPCR_Srsx 33 299 3.4e-5 PFAM
Pfam:7tm_1 39 285 6.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111516
AA Change: V245A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107141
Gene: ENSMUSG00000049149
AA Change: V245A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 33 299 3.4e-5 PFAM
Pfam:7tm_1 39 285 4.9e-32 PFAM
Pfam:7tm_4 137 278 2.7e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213720
AA Change: V245A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,500,437 noncoding transcript Het
Abhd17b T C 19: 21,680,899 Y167H possibly damaging Het
Ablim1 T C 19: 57,134,654 D167G probably damaging Het
Bpnt1 G T 1: 185,338,175 K21N probably damaging Het
Cables2 A G 2: 180,261,638 V251A probably benign Het
Cyp2b13 T C 7: 26,086,013 L269P probably damaging Het
Dhodh A G 8: 109,594,764 I330T probably damaging Het
Dnah5 T A 15: 28,340,381 D2311E probably damaging Het
Dph1 T C 11: 75,183,602 D128G probably benign Het
Dsg1c T A 18: 20,276,999 I508N probably benign Het
Eftud2 T C 11: 102,851,754 probably null Het
Fstl4 T A 11: 52,773,871 H9Q probably benign Het
Glra3 A T 8: 56,089,028 M269L probably benign Het
Gpatch8 C A 11: 102,508,157 R83L unknown Het
Gss A G 2: 155,573,170 V205A probably benign Het
Ifi30 A G 8: 70,764,760 probably benign Het
Itch T A 2: 155,202,261 Y495* probably null Het
Lilrb4a C T 10: 51,491,226 Q22* probably null Het
Mest T C 6: 30,744,914 F201S possibly damaging Het
Myh8 T A 11: 67,294,440 I839N probably damaging Het
Myo7a C T 7: 98,075,112 G1122E probably damaging Het
Ntan1 T A 16: 13,835,199 M273K probably benign Het
Numa1 A G 7: 102,007,532 K1548R probably benign Het
Obsl1 A G 1: 75,492,517 V1260A probably damaging Het
Olfr1271 T A 2: 90,265,951 I160F probably damaging Het
Pde10a A G 17: 8,953,804 S669G possibly damaging Het
Ppargc1b T C 18: 61,323,151 D79G probably damaging Het
Rnf103 A G 6: 71,509,218 T278A probably benign Het
Slc22a4 C A 11: 53,988,772 probably benign Het
Snx25 A T 8: 46,041,349 M833K possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Susd2 A T 10: 75,640,095 Y357N probably damaging Het
Syne4 C A 7: 30,316,234 S91Y possibly damaging Het
Tgfbrap1 C A 1: 43,075,821 G40C probably damaging Het
Tial1 A G 7: 128,448,345 S94P probably damaging Het
Tle3 A G 9: 61,394,659 T117A possibly damaging Het
Usp48 A C 4: 137,604,523 R73S possibly damaging Het
Utrn G T 10: 12,421,608 D685E possibly damaging Het
Other mutations in Olfr1258
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Olfr1258 APN 2 89930559 missense probably benign 0.01
IGL03300:Olfr1258 APN 2 89930227 nonsense probably null
R0081:Olfr1258 UTSW 2 89930079 missense possibly damaging 0.90
R0197:Olfr1258 UTSW 2 89930201 missense probably benign 0.00
R0701:Olfr1258 UTSW 2 89930201 missense probably benign 0.00
R0883:Olfr1258 UTSW 2 89930201 missense probably benign 0.00
R1163:Olfr1258 UTSW 2 89930105 missense possibly damaging 0.78
R1833:Olfr1258 UTSW 2 89930301 nonsense probably null
R1846:Olfr1258 UTSW 2 89930666 missense possibly damaging 0.45
R4504:Olfr1258 UTSW 2 89930351 missense possibly damaging 0.89
R4507:Olfr1258 UTSW 2 89930351 missense possibly damaging 0.89
R4679:Olfr1258 UTSW 2 89930664 missense possibly damaging 0.63
R4908:Olfr1258 UTSW 2 89930579 missense probably benign 0.00
R5430:Olfr1258 UTSW 2 89929913 missense probably benign 0.00
R6836:Olfr1258 UTSW 2 89930339 missense probably damaging 1.00
R7552:Olfr1258 UTSW 2 89930720 missense probably benign 0.06
R7709:Olfr1258 UTSW 2 89929881 missense probably benign 0.00
R8060:Olfr1258 UTSW 2 89930349 missense probably benign 0.04
R8349:Olfr1258 UTSW 2 89930534 missense possibly damaging 0.48
R8449:Olfr1258 UTSW 2 89930534 missense possibly damaging 0.48
Z1177:Olfr1258 UTSW 2 89930598 nonsense probably null
Posted On2015-04-16