Incidental Mutation 'R2118:Or5h18'
ID 231240
Institutional Source Beutler Lab
Gene Symbol Or5h18
Ensembl Gene ENSMUSG00000047960
Gene Name olfactory receptor family 5 subfamily H member 18
Synonyms Olfr186, GA_x54KRFPKG5P-55257214-55256285, MOR183-9
MMRRC Submission 040122-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R2118 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 58847286-58848290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58848178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 31 (F31L)
Ref Sequence ENSEMBL: ENSMUSP00000150366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062380] [ENSMUST00000206463] [ENSMUST00000216415]
AlphaFold Q8VEX5
Predicted Effect possibly damaging
Transcript: ENSMUST00000062380
AA Change: F31L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056448
Gene: ENSMUSG00000047960
AA Change: F31L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.4e-49 PFAM
Pfam:7tm_1 41 290 7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205894
Predicted Effect possibly damaging
Transcript: ENSMUST00000206463
AA Change: F31L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216415
AA Change: F31L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.2059 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (90/90)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T C 11: 83,331,190 (GRCm39) S31P possibly damaging Het
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Abi3bp T C 16: 56,298,227 (GRCm39) probably benign Het
Adamts8 T C 9: 30,854,359 (GRCm39) F76S probably damaging Het
Agpat3 T C 10: 78,113,918 (GRCm39) R257G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
AI593442 T C 9: 52,588,993 (GRCm39) T195A probably benign Het
Aipl1 A T 11: 71,920,195 (GRCm39) L291Q possibly damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap2 G A 5: 62,864,028 (GRCm39) T532I probably damaging Het
Arg1 T C 10: 24,796,621 (GRCm39) N69D possibly damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef38 T C 3: 132,866,514 (GRCm39) K208E probably benign Het
Asb4 A T 6: 5,390,687 (GRCm39) T27S probably benign Het
Ash1l C G 3: 88,892,602 (GRCm39) Q1494E possibly damaging Het
Car12 T C 9: 66,621,174 (GRCm39) V15A probably benign Het
Cdc20b A G 13: 113,215,232 (GRCm39) I267V probably benign Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cenpe T A 3: 134,952,645 (GRCm39) M1445K possibly damaging Het
Cfap43 T C 19: 47,758,877 (GRCm39) E932G probably damaging Het
Cfhr1 G C 1: 139,478,642 (GRCm39) Q243E probably benign Het
Cnih2 C A 19: 5,148,276 (GRCm39) A6S possibly damaging Het
Cntnap1 G T 11: 101,079,483 (GRCm39) M1240I probably benign Het
Cntrl T C 2: 35,051,977 (GRCm39) S1050P probably benign Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dbx2 A C 15: 95,522,681 (GRCm39) L342R probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dnajb2 T C 1: 75,214,121 (GRCm39) W30R probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fancd2 A G 6: 113,537,035 (GRCm39) probably benign Het
Fbxw14 T C 9: 109,103,692 (GRCm39) probably benign Het
Gimap4 G T 6: 48,667,905 (GRCm39) C92F probably benign Het
Gm10033 A C 8: 69,824,942 (GRCm39) noncoding transcript Het
Gm5828 A G 1: 16,840,199 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,680 (GRCm39) V186A probably damaging Het
Gnptab T C 10: 88,272,260 (GRCm39) S967P probably benign Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints12 T C 3: 132,814,921 (GRCm39) V376A probably damaging Het
Kalrn C T 16: 34,152,600 (GRCm39) S309N possibly damaging Het
Kel T A 6: 41,666,234 (GRCm39) I471L probably benign Het
Klhl25 T C 7: 75,516,480 (GRCm39) V462A probably damaging Het
Ksr1 A T 11: 78,936,019 (GRCm39) M77K probably benign Het
Leo1 T A 9: 75,353,094 (GRCm39) N212K probably damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mast4 A G 13: 102,890,713 (GRCm39) V855A probably damaging Het
Mdga2 T A 12: 66,915,526 (GRCm39) E43V probably damaging Het
Mmaa A T 8: 79,994,588 (GRCm39) L406* probably null Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Nlrp12 A T 7: 3,290,079 (GRCm39) N144K probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or4f61 C A 2: 111,922,675 (GRCm39) V124L probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Pappa2 T C 1: 158,684,836 (GRCm39) T768A probably damaging Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Ppp1r13l A G 7: 19,105,346 (GRCm39) M373V possibly damaging Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg16 C A 7: 16,824,548 (GRCm39) H111N probably benign Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Rai14 A G 15: 10,575,252 (GRCm39) F569L probably benign Het
Rbpms2 T A 9: 65,558,229 (GRCm39) D116E probably damaging Het
Rgs20 A G 1: 4,987,113 (GRCm39) probably benign Het
Rnf114 T C 2: 167,352,803 (GRCm39) L101P probably damaging Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Slc2a13 A G 15: 91,400,679 (GRCm39) V181A probably damaging Het
Spag17 A G 3: 99,956,556 (GRCm39) E884G possibly damaging Het
Sycn T C 7: 28,240,713 (GRCm39) S127P probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tas2r117 T A 6: 132,780,129 (GRCm39) I89K probably damaging Het
Tep1 C A 14: 51,093,029 (GRCm39) probably null Het
Tex14 T C 11: 87,410,569 (GRCm39) probably benign Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Vmn1r200 C T 13: 22,579,353 (GRCm39) T43I probably damaging Het
Wars2 T C 3: 99,123,883 (GRCm39) V248A probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp729a A T 13: 67,769,613 (GRCm39) probably null Het
Zfp759 C A 13: 67,287,578 (GRCm39) probably benign Het
Other mutations in Or5h18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Or5h18 APN 16 58,848,216 (GRCm39) missense probably benign 0.00
IGL00969:Or5h18 APN 16 58,847,994 (GRCm39) missense possibly damaging 0.48
IGL01102:Or5h18 APN 16 58,848,192 (GRCm39) missense probably benign 0.03
IGL01348:Or5h18 APN 16 58,848,157 (GRCm39) missense probably damaging 1.00
IGL01399:Or5h18 APN 16 58,847,629 (GRCm39) missense probably benign 0.05
IGL02088:Or5h18 APN 16 58,847,415 (GRCm39) missense probably damaging 1.00
R0047:Or5h18 UTSW 16 58,847,587 (GRCm39) missense probably benign 0.00
R0479:Or5h18 UTSW 16 58,847,491 (GRCm39) missense possibly damaging 0.64
R0866:Or5h18 UTSW 16 58,847,791 (GRCm39) missense probably benign
R0926:Or5h18 UTSW 16 58,848,051 (GRCm39) missense possibly damaging 0.80
R1760:Or5h18 UTSW 16 58,847,350 (GRCm39) missense probably benign 0.01
R1955:Or5h18 UTSW 16 58,847,774 (GRCm39) missense probably damaging 0.99
R2085:Or5h18 UTSW 16 58,848,232 (GRCm39) missense probably benign 0.02
R4156:Or5h18 UTSW 16 58,847,931 (GRCm39) missense probably damaging 1.00
R4287:Or5h18 UTSW 16 58,847,976 (GRCm39) missense probably benign 0.00
R4783:Or5h18 UTSW 16 58,848,260 (GRCm39) missense probably benign
R4885:Or5h18 UTSW 16 58,847,518 (GRCm39) missense probably damaging 1.00
R4947:Or5h18 UTSW 16 58,847,808 (GRCm39) missense probably damaging 0.98
R4965:Or5h18 UTSW 16 58,847,696 (GRCm39) missense probably damaging 1.00
R6314:Or5h18 UTSW 16 58,847,820 (GRCm39) missense probably benign 0.18
R7624:Or5h18 UTSW 16 58,847,382 (GRCm39) missense possibly damaging 0.80
R7683:Or5h18 UTSW 16 58,847,469 (GRCm39) missense probably benign
R8197:Or5h18 UTSW 16 58,847,448 (GRCm39) missense probably benign 0.03
R9048:Or5h18 UTSW 16 58,847,598 (GRCm39) missense probably benign 0.20
R9117:Or5h18 UTSW 16 58,847,653 (GRCm39) missense probably benign 0.12
R9309:Or5h18 UTSW 16 58,848,186 (GRCm39) missense probably damaging 1.00
R9444:Or5h18 UTSW 16 58,848,018 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTCGGAAAGTGATATCATCTTGTTC -3'
(R):5'- AAGGACTGTTCTGGTAAAGATGTG -3'

Sequencing Primer
(F):5'- TCACTGCGGATGATATCC -3'
(R):5'- ACTGTTCTGGTAAAGATGTGACTTC -3'
Posted On 2014-09-18