Incidental Mutation 'R4781:Olfr1375'
ID366525
Institutional Source Beutler Lab
Gene Symbol Olfr1375
Ensembl Gene ENSMUSG00000057890
Gene Nameolfactory receptor 1375
SynonymsGA_x6K02T2QP88-4389999-4389056, MOR126-2, Olfr1375-ps1
MMRRC Submission 042415-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R4781 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location51048109-51049050 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 51048480 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 124 (R124S)
Ref Sequence ENSEMBL: ENSMUSP00000144756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073543]
Predicted Effect probably damaging
Transcript: ENSMUST00000073543
AA Change: R124S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073233
Gene: ENSMUSG00000057890
AA Change: R124S

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 6.4e-60 PFAM
Pfam:7TM_GPCR_Srsx 37 306 3.9e-6 PFAM
Pfam:7tm_1 43 291 9.5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000073543
AA Change: R124S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144756
Gene: ENSMUSG00000057890
AA Change: R124S

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 6.4e-60 PFAM
Pfam:7TM_GPCR_Srsx 37 306 3.9e-6 PFAM
Pfam:7tm_1 43 291 9.5e-26 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (74/74)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,571,651 I157N probably damaging Het
Adgrl3 T C 5: 81,760,724 Y1165H probably damaging Het
Adra2a A G 19: 54,046,495 D94G probably damaging Het
Akr1c20 T A 13: 4,508,175 K197* probably null Het
Ankrd65 C T 4: 155,793,036 H335Y possibly damaging Het
Axin2 T A 11: 108,943,856 L636Q probably damaging Het
BC147527 A C 13: 120,308,162 K6T possibly damaging Het
Camk1g G T 1: 193,356,344 T90N probably benign Het
Cd177 C A 7: 24,750,626 C528F probably damaging Het
Cntnap5a A T 1: 116,412,201 D730V possibly damaging Het
Crtap T C 9: 114,386,236 D195G probably benign Het
Csn1s2b A G 5: 87,819,093 S74G possibly damaging Het
Cyp3a16 T C 5: 145,456,112 R128G possibly damaging Het
Dnah7a A G 1: 53,425,208 F3675L probably benign Het
Dram2 T A 3: 106,571,676 W195R probably damaging Het
E130308A19Rik C T 4: 59,691,057 P297L probably benign Het
Eif3i T C 4: 129,595,273 S83G probably benign Het
Gabra1 G A 11: 42,133,661 P396S probably damaging Het
Gipr T A 7: 19,157,375 Y459F possibly damaging Het
Gm11677 C T 11: 111,724,711 noncoding transcript Het
Gm6981 T C 9: 52,002,756 noncoding transcript Het
Grin2d T C 7: 45,862,481 D180G probably damaging Het
Hectd4 T G 5: 121,306,107 probably null Het
Hhat T C 1: 192,686,979 probably benign Het
Hoxa6 A G 6: 52,206,420 L215P possibly damaging Het
Hsf4 G A 8: 105,274,752 probably null Het
Igf1r G A 7: 68,165,199 A283T possibly damaging Het
Ighv15-2 A G 12: 114,564,856 S25P probably damaging Het
Inpp5a C T 7: 139,478,005 T43I probably benign Het
Kmt2c T A 5: 25,443,825 E82V probably damaging Het
Lrrc31 A G 3: 30,687,377 probably benign Het
Mdga2 A G 12: 66,797,622 probably null Het
Mefv G A 16: 3,715,334 P358S probably benign Het
Mrgpra9 A G 7: 47,235,047 F291L possibly damaging Het
Mtmr3 A G 11: 4,488,435 L673P probably benign Het
Muc19 T C 15: 91,903,166 noncoding transcript Het
Myo5b A T 18: 74,744,681 T1584S possibly damaging Het
Olfr1427 T C 19: 12,099,367 T91A probably benign Het
Palld G T 8: 61,877,028 R272S probably benign Het
Pcnx3 T A 19: 5,687,130 N144Y probably damaging Het
Prf1 A G 10: 61,300,424 K160E probably damaging Het
Rasgrp1 G A 2: 117,291,709 A400V probably benign Het
Rnf150 A G 8: 82,864,152 Y48C probably damaging Het
Rpl11 G T 4: 136,050,288 Q170K probably benign Het
Scin G A 12: 40,081,764 A257V possibly damaging Het
Scn7a C A 2: 66,703,760 A524S possibly damaging Het
Sim1 T C 10: 50,983,785 L581S probably benign Het
Skor1 T C 9: 63,144,459 T715A probably benign Het
Slc22a26 A G 19: 7,790,135 V301A probably benign Het
Sorcs1 T C 19: 50,182,681 Y923C probably damaging Het
Src T A 2: 157,467,485 M304K possibly damaging Het
Srgap3 A T 6: 112,757,425 probably benign Het
Stard3 G A 11: 98,372,334 E72K possibly damaging Het
Svep1 T A 4: 58,070,340 N2482I probably damaging Het
Tbc1d23 T C 16: 57,218,415 K20R possibly damaging Het
Tfip11 G A 5: 112,333,399 E414K probably damaging Het
Tinag G T 9: 76,996,950 T397K possibly damaging Het
Traf7 C G 17: 24,510,438 probably benign Het
Trmt10b T A 4: 45,305,817 I164N probably damaging Het
Trpm1 A G 7: 64,235,052 D827G probably benign Het
Ube2u A T 4: 100,486,658 T85S probably benign Het
Ulk4 T C 9: 121,103,576 D1066G probably benign Het
Vmn2r72 T A 7: 85,737,861 I832F probably benign Het
Yipf1 A C 4: 107,336,158 E80D probably benign Het
Zfp40 T A 17: 23,175,655 R653W probably damaging Het
Zxdc A G 6: 90,372,553 T308A probably damaging Het
Other mutations in Olfr1375
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Olfr1375 APN 11 51048400 missense probably benign 0.00
R0268:Olfr1375 UTSW 11 51048941 missense probably damaging 1.00
R0462:Olfr1375 UTSW 11 51048509 missense probably damaging 1.00
R0478:Olfr1375 UTSW 11 51048712 missense probably benign 0.03
R0839:Olfr1375 UTSW 11 51048427 missense probably benign 0.06
R2517:Olfr1375 UTSW 11 51048473 missense probably damaging 1.00
R4688:Olfr1375 UTSW 11 51048988 missense probably damaging 1.00
R5396:Olfr1375 UTSW 11 51048470 missense probably damaging 1.00
R6163:Olfr1375 UTSW 11 51048768 nonsense probably null
R6739:Olfr1375 UTSW 11 51048737 missense probably damaging 0.97
R7344:Olfr1375 UTSW 11 51048295 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGAACACACTCATCTTCCTG -3'
(R):5'- AGGCCAACTTCATGAGCAGG -3'

Sequencing Primer
(F):5'- GGCCATCATCTCCGACCC -3'
(R):5'- TTCATGAGCAGGTAAGCATCAC -3'
Posted On2015-12-29