Incidental Mutation 'R0332:Or7e178'
ID 35929
Institutional Source Beutler Lab
Gene Symbol Or7e178
Ensembl Gene ENSMUSG00000066896
Gene Name olfactory receptor family 7 subfamily E member 178
Synonyms MTPCR34, MOR145-1, Olfr18, GA_x6K02T2PVTD-14054886-14053957
MMRRC Submission 038541-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0332 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 20225188-20247390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20225352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 288 (L288S)
Ref Sequence ENSEMBL: ENSMUSP00000083664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086473] [ENSMUST00000212943]
AlphaFold Q0VAX9
Predicted Effect probably benign
Transcript: ENSMUST00000086473
AA Change: L288S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000083664
Gene: ENSMUSG00000066896
AA Change: L288S

DomainStartEndE-ValueType
Pfam:7tm_4 53 330 1.2e-54 PFAM
Pfam:7TM_GPCR_Srsx 57 234 3.2e-9 PFAM
Pfam:7tm_1 63 312 4.7e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212727
Predicted Effect probably benign
Transcript: ENSMUST00000212943
AA Change: L280S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220241
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (63/63)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,505,954 (GRCm39) E211G probably damaging Het
Aox3 A G 1: 58,181,910 (GRCm39) N299S probably benign Het
Arhgef7 T A 8: 11,874,701 (GRCm39) Y777* probably null Het
Atad1 A G 19: 32,679,934 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,268 (GRCm39) probably null Het
Bop1 A G 15: 76,340,187 (GRCm39) Y130H probably damaging Het
Ccar2 G T 14: 70,379,384 (GRCm39) probably benign Het
Ccdc110 G T 8: 46,396,001 (GRCm39) E631* probably null Het
Cfap54 C T 10: 92,871,319 (GRCm39) D634N probably damaging Het
Cldn8 C T 16: 88,359,246 (GRCm39) silent Het
Cstf3 G T 2: 104,476,812 (GRCm39) probably null Het
Dgkq T C 5: 108,802,965 (GRCm39) probably benign Het
Dsp T A 13: 38,366,204 (GRCm39) L546* probably null Het
Eif3g A T 9: 20,809,280 (GRCm39) probably benign Het
Fam228a T A 12: 4,785,018 (GRCm39) I38F probably damaging Het
Fto A T 8: 92,128,518 (GRCm39) probably benign Het
Gcnt4 G T 13: 97,083,018 (GRCm39) V105L probably benign Het
Gm10644 A G 8: 84,660,210 (GRCm39) L45S possibly damaging Het
Gm7275 A T 16: 47,894,132 (GRCm39) noncoding transcript Het
Gm7579 T C 7: 141,766,112 (GRCm39) S173P unknown Het
Gpatch8 T C 11: 102,372,668 (GRCm39) N290S unknown Het
Grep1 A T 17: 23,933,578 (GRCm39) probably benign Het
Hspb8 T A 5: 116,547,532 (GRCm39) D150V probably damaging Het
Ifitm1 T C 7: 140,548,366 (GRCm39) probably benign Het
Ifnl2 T C 7: 28,208,756 (GRCm39) T99A possibly damaging Het
Ints4 T C 7: 97,166,925 (GRCm39) L577P probably damaging Het
Jph4 T C 14: 55,351,467 (GRCm39) E183G possibly damaging Het
Loxhd1 T A 18: 77,471,526 (GRCm39) probably null Het
Mug1 G A 6: 121,826,856 (GRCm39) probably null Het
Nlrp2 C A 7: 5,320,629 (GRCm39) C836F probably damaging Het
Nup210l G T 3: 90,039,616 (GRCm39) probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or51h1 A T 7: 102,308,672 (GRCm39) I215F probably damaging Het
Phykpl A G 11: 51,477,502 (GRCm39) E98G probably benign Het
Pikfyve A G 1: 65,303,558 (GRCm39) N1648D probably benign Het
Plppr5 A T 3: 117,465,581 (GRCm39) R277S probably benign Het
Ppp1r36 T A 12: 76,474,677 (GRCm39) F86L probably benign Het
Ptgis A T 2: 167,056,753 (GRCm39) L278Q probably damaging Het
Rasa2 A T 9: 96,488,229 (GRCm39) F90Y probably damaging Het
Setd3 T C 12: 108,073,838 (GRCm39) K480E probably benign Het
Slc66a1 C T 4: 139,027,610 (GRCm39) S244N possibly damaging Het
Snx2 T C 18: 53,345,983 (GRCm39) F389L probably benign Het
Sulf2 G A 2: 165,931,119 (GRCm39) T296M probably benign Het
Supt16 A T 14: 52,418,614 (GRCm39) H214Q probably damaging Het
Tbx4 A T 11: 85,789,356 (GRCm39) M12L probably benign Het
Tlk1 A T 2: 70,575,909 (GRCm39) probably null Het
Tmprss7 C T 16: 45,501,001 (GRCm39) V267M probably benign Het
Tmub2 G A 11: 102,179,174 (GRCm39) R291H probably damaging Het
Trpm2 A T 10: 77,783,822 (GRCm39) V217E probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A G 2: 76,596,226 (GRCm39) V20229A probably benign Het
Ttn A C 2: 76,608,538 (GRCm39) probably null Het
Usf2 T A 7: 30,654,604 (GRCm39) M199L possibly damaging Het
Usp37 A T 1: 74,534,869 (GRCm39) S26T possibly damaging Het
Vrk1 G C 12: 106,024,884 (GRCm39) Q253H probably benign Het
Wdr72 A T 9: 74,064,534 (GRCm39) probably null Het
Xrra1 T C 7: 99,525,449 (GRCm39) F123L probably damaging Het
Zfhx3 T C 8: 109,673,255 (GRCm39) I1435T probably damaging Het
Zfp712 T A 13: 67,188,877 (GRCm39) H550L probably damaging Het
Other mutations in Or7e178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Or7e178 APN 9 20,226,015 (GRCm39) missense probably damaging 1.00
IGL02412:Or7e178 APN 9 20,225,935 (GRCm39) missense probably benign
IGL03288:Or7e178 APN 9 20,247,207 (GRCm39) critical splice donor site probably null
IGL03395:Or7e178 APN 9 20,225,847 (GRCm39) missense probably damaging 1.00
R0346:Or7e178 UTSW 9 20,225,707 (GRCm39) missense probably benign 0.20
R0569:Or7e178 UTSW 9 20,225,875 (GRCm39) missense probably damaging 1.00
R0798:Or7e178 UTSW 9 20,225,495 (GRCm39) nonsense probably null
R0865:Or7e178 UTSW 9 20,226,045 (GRCm39) missense probably damaging 1.00
R1082:Or7e178 UTSW 9 20,225,765 (GRCm39) missense possibly damaging 0.52
R1905:Or7e178 UTSW 9 20,226,142 (GRCm39) missense probably benign
R4245:Or7e178 UTSW 9 20,225,629 (GRCm39) missense possibly damaging 0.87
R5566:Or7e178 UTSW 9 20,225,265 (GRCm39) missense probably benign
R6306:Or7e178 UTSW 9 20,225,742 (GRCm39) missense probably benign 0.25
R6721:Or7e178 UTSW 9 20,225,576 (GRCm39) missense probably benign 0.24
R6787:Or7e178 UTSW 9 20,247,221 (GRCm39) missense probably benign
R6930:Or7e178 UTSW 9 20,225,395 (GRCm39) missense probably damaging 1.00
R7196:Or7e178 UTSW 9 20,225,494 (GRCm39) missense probably benign 0.38
R7711:Or7e178 UTSW 9 20,225,319 (GRCm39) missense possibly damaging 0.66
R8023:Or7e178 UTSW 9 20,225,545 (GRCm39) missense probably benign 0.00
R8029:Or7e178 UTSW 9 20,225,643 (GRCm39) missense possibly damaging 0.59
R8050:Or7e178 UTSW 9 20,225,941 (GRCm39) missense probably damaging 1.00
R8058:Or7e178 UTSW 9 20,225,476 (GRCm39) missense probably damaging 0.99
R8159:Or7e178 UTSW 9 20,226,015 (GRCm39) missense possibly damaging 0.96
R8201:Or7e178 UTSW 9 20,225,908 (GRCm39) missense probably benign 0.10
R9022:Or7e178 UTSW 9 20,225,268 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGCTGTAGATCATCTGAGAGTCCC -3'
(R):5'- ACCTTGCCTGTTCTGATACCTTTACCAA -3'

Sequencing Primer
(F):5'- gggagacagagacaggtgg -3'
(R):5'- AACATAGTCATGTATTTTGTTGGTGC -3'
Posted On 2013-05-09