Incidental Mutation 'IGL03115:Olfr975'
ID419390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr975
Ensembl Gene ENSMUSG00000043331
Gene Nameolfactory receptor 975
SynonymsMOR224-2, GA_x6K02T2PVTD-33651220-33650288
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL03115
Quality Score
Status
Chromosome9
Chromosomal Location39948131-39952046 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39950744 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 9 (E9G)
Ref Sequence ENSEMBL: ENSMUSP00000150664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054067] [ENSMUST00000169307] [ENSMUST00000213171] [ENSMUST00000216647] [ENSMUST00000217630]
Predicted Effect probably damaging
Transcript: ENSMUST00000054067
AA Change: E9G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059776
Gene: ENSMUSG00000043331
AA Change: E9G

DomainStartEndE-ValueType
Pfam:7tm_4 29 304 1.9e-51 PFAM
Pfam:7TM_GPCR_Srsx 33 249 1.8e-7 PFAM
Pfam:7tm_1 39 286 3.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169307
SMART Domains Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352

DomainStartEndE-ValueType
Pfam:7tm_4 43 318 1.5e-48 PFAM
Pfam:7TM_GPCR_Srsx 47 271 1.1e-5 PFAM
Pfam:7tm_1 53 300 2.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213171
Predicted Effect probably damaging
Transcript: ENSMUST00000216647
AA Change: E9G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000217630
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,571,353 H302L probably damaging Het
Adamts12 T A 15: 11,263,336 C595S probably damaging Het
Arid2 G A 15: 96,370,273 V756I probably damaging Het
Asah1 A T 8: 41,360,299 W26R possibly damaging Het
Brinp1 C T 4: 68,904,736 probably null Het
Cers2 A G 3: 95,321,352 D162G probably damaging Het
Clasp1 G T 1: 118,501,323 E106* probably null Het
Col12a1 T C 9: 79,681,437 E1132G probably damaging Het
Dhdds G T 4: 133,982,871 H196N probably benign Het
Eps8 T C 6: 137,527,381 D118G probably damaging Het
Fmo9 A G 1: 166,677,651 S7P probably damaging Het
Gamt A G 10: 80,258,438 L197P probably damaging Het
Grb7 A G 11: 98,451,119 I82V probably damaging Het
Hectd2 T C 19: 36,599,721 probably null Het
Ilk T C 7: 105,740,335 V83A probably damaging Het
Kif21a T A 15: 90,985,395 I418F probably damaging Het
Kndc1 A G 7: 139,921,509 I905V probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Morc3 T C 16: 93,871,083 I710T probably damaging Het
Nefm T C 14: 68,120,279 probably benign Het
Olfr452 A G 6: 42,790,665 T209A probably benign Het
Olfr937 C A 9: 39,059,963 R234S probably damaging Het
Pard6g T G 18: 80,079,853 L34W probably damaging Het
Patj C T 4: 98,443,803 S562L probably damaging Het
Pcsk4 A G 10: 80,329,049 I61T probably damaging Het
Pcsk7 T A 9: 45,914,372 H300Q probably damaging Het
Pip5kl1 A G 2: 32,580,021 D288G probably damaging Het
Plxnb2 T A 15: 89,162,438 probably benign Het
Poldip2 T C 11: 78,521,144 probably benign Het
Ralgapa2 T C 2: 146,424,814 Y614C probably damaging Het
Rarres1 C A 3: 67,495,812 probably null Het
Samd3 C T 10: 26,271,708 T427M probably damaging Het
Skap1 A G 11: 96,702,620 I98V probably benign Het
Skint11 T C 4: 114,244,623 S87P probably damaging Het
Slc22a22 T G 15: 57,263,274 E133A probably damaging Het
Slc23a2 T C 2: 132,091,265 Y91C probably damaging Het
Slc6a20b T A 9: 123,597,338 E494V possibly damaging Het
Slco1a4 A C 6: 141,817,859 M377R probably damaging Het
Slco1a4 A T 6: 141,819,603 D304E probably benign Het
Srpk2 T C 5: 23,524,618 probably null Het
Supt3 T G 17: 45,041,227 C271W probably damaging Het
Taar7d C A 10: 24,027,641 F140L probably benign Het
Tmbim7 T C 5: 3,679,158 *225Q probably null Het
Tpst1 T C 5: 130,101,911 I74T probably damaging Het
Utp3 T C 5: 88,555,320 V236A possibly damaging Het
Vmn2r55 A T 7: 12,670,631 F282I probably damaging Het
Vwa5b1 A T 4: 138,600,149 I372N possibly damaging Het
Wtip C T 7: 34,125,533 A209T probably damaging Het
Zbbx T C 3: 75,078,560 D395G probably benign Het
Zfp273 A T 13: 67,825,650 H299L probably damaging Het
Zfp459 G A 13: 67,408,677 R96* probably null Het
Other mutations in Olfr975
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Olfr975 APN 9 39949988 missense probably benign 0.01
IGL01537:Olfr975 APN 9 39950625 missense probably benign 0.00
IGL01963:Olfr975 APN 9 39950240 missense probably damaging 1.00
IGL02400:Olfr975 APN 9 39950339 missense probably benign
IGL03226:Olfr975 APN 9 39950423 unclassified probably null
R0088:Olfr975 UTSW 9 39950375 missense probably benign 0.03
R0212:Olfr975 UTSW 9 39949940 missense probably benign 0.44
R1668:Olfr975 UTSW 9 39950169 missense possibly damaging 0.94
R1878:Olfr975 UTSW 9 39950757 missense probably benign 0.35
R2225:Olfr975 UTSW 9 39950537 missense possibly damaging 0.84
R2291:Olfr975 UTSW 9 39950334 missense probably benign 0.19
R2420:Olfr975 UTSW 9 39950528 missense possibly damaging 0.47
R2421:Olfr975 UTSW 9 39950528 missense possibly damaging 0.47
R2422:Olfr975 UTSW 9 39950528 missense possibly damaging 0.47
R2425:Olfr975 UTSW 9 39949841 missense probably null 0.25
R2918:Olfr975 UTSW 9 39950364 missense probably benign
R4536:Olfr975 UTSW 9 39950435 missense probably damaging 1.00
R4709:Olfr975 UTSW 9 39949869 missense probably damaging 0.97
R4831:Olfr975 UTSW 9 39950112 missense probably benign 0.01
R4921:Olfr975 UTSW 9 39950225 missense probably damaging 0.98
R5113:Olfr975 UTSW 9 39949925 missense probably damaging 0.99
R5141:Olfr975 UTSW 9 39949874 missense probably benign 0.07
R5195:Olfr975 UTSW 9 39950679 missense probably benign
R5213:Olfr975 UTSW 9 39950093 missense probably damaging 0.99
R5568:Olfr975 UTSW 9 39950687 missense probably benign 0.05
R6993:Olfr975 UTSW 9 39950637 missense probably benign
R7080:Olfr975 UTSW 9 39950148 missense probably damaging 1.00
R7436:Olfr975 UTSW 9 39950053 nonsense probably null
Posted On2016-08-02