Incidental Mutation 'R0738:Or8c17'
ID 70582
Institutional Source Beutler Lab
Gene Symbol Or8c17
Ensembl Gene ENSMUSG00000096427
Gene Name olfactory receptor family 8 subfamily C member 17
Synonyms GA_x6K02T2PVTD-31962461-31963411, MOR170-1, Olfr895
MMRRC Submission 038919-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R0738 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38179297-38181049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38180421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 204 (V204A)
Ref Sequence ENSEMBL: ENSMUSP00000091387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093864] [ENSMUST00000212156]
AlphaFold L7N210
Predicted Effect possibly damaging
Transcript: ENSMUST00000093864
AA Change: V204A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091387
Gene: ENSMUSG00000096427
AA Change: V204A

DomainStartEndE-ValueType
Pfam:7tm_4 37 313 4.6e-47 PFAM
Pfam:7tm_1 47 246 3.4e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000212156
AA Change: V196A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 92.3%
Validation Efficiency 98% (46/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,388,812 (GRCm39) M189K probably benign Het
Ank1 A T 8: 23,604,130 (GRCm39) E964D probably damaging Het
Ankhd1 A G 18: 36,778,302 (GRCm39) probably benign Het
Cd9 G T 6: 125,439,103 (GRCm39) Q169K probably benign Het
Cdc42bpa T A 1: 179,827,027 (GRCm39) probably benign Het
Ch25h T C 19: 34,451,787 (GRCm39) N247S possibly damaging Het
Dctn1 T C 6: 83,167,089 (GRCm39) probably null Het
Defa22 C T 8: 21,652,391 (GRCm39) T19I probably benign Het
Dscam T C 16: 96,620,981 (GRCm39) N576D possibly damaging Het
Epha3 T C 16: 63,415,975 (GRCm39) M675V probably damaging Het
Fam241a C A 3: 127,664,442 (GRCm39) A120S possibly damaging Het
Fkbp8 T A 8: 70,982,320 (GRCm39) I86N probably damaging Het
Herc4 C T 10: 63,124,928 (GRCm39) P514L possibly damaging Het
Ide A T 19: 37,255,364 (GRCm39) L813* probably null Het
Igkv12-41 G A 6: 69,835,675 (GRCm39) Q26* probably null Het
Itsn2 T C 12: 4,685,681 (GRCm39) V483A probably benign Het
Kcp A T 6: 29,490,438 (GRCm39) I1002N probably benign Het
Lrfn5 G T 12: 61,887,378 (GRCm39) E389* probably null Het
Lrp6 G T 6: 134,519,008 (GRCm39) A19E probably benign Het
Mad1l1 A G 5: 140,286,315 (GRCm39) L228P probably damaging Het
Map2 T C 1: 66,464,348 (GRCm39) probably benign Het
Med13l T A 5: 118,889,698 (GRCm39) Y1820N probably damaging Het
Mgam A G 6: 40,731,869 (GRCm39) N735S probably benign Het
Mid2 A G X: 139,664,425 (GRCm39) Y618C probably damaging Het
Mllt11 G A 3: 95,127,597 (GRCm39) Q58* probably null Het
Mttp A G 3: 137,809,074 (GRCm39) V678A probably damaging Het
Nfatc1 A G 18: 80,741,125 (GRCm39) S278P probably damaging Het
Ninj2 A G 6: 120,175,098 (GRCm39) probably benign Het
Nsd3 T A 8: 26,168,725 (GRCm39) probably null Het
Or5b102 A T 19: 13,041,102 (GRCm39) E109V probably damaging Het
Pcdhb4 A G 18: 37,441,764 (GRCm39) N358S probably damaging Het
Plch1 T C 3: 63,609,974 (GRCm39) probably benign Het
Popdc3 T C 10: 45,191,354 (GRCm39) L155P probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm26 A T 14: 105,414,218 (GRCm39) I24N unknown Het
Rc3h2 T A 2: 37,295,386 (GRCm39) D210V probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spopl T C 2: 23,427,533 (GRCm39) T200A probably benign Het
Tarbp1 A G 8: 127,165,540 (GRCm39) probably null Het
Thnsl1 T A 2: 21,218,173 (GRCm39) H121Q probably damaging Het
Tll1 T C 8: 64,554,984 (GRCm39) D233G probably damaging Het
Vmn2r27 A T 6: 124,200,661 (GRCm39) V432E possibly damaging Het
Wdr5 T C 2: 27,409,424 (GRCm39) S49P probably damaging Het
Zfyve26 A T 12: 79,342,308 (GRCm39) I46N probably damaging Het
Other mutations in Or8c17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Or8c17 APN 9 38,179,801 (GRCm39) splice site probably benign
IGL01477:Or8c17 APN 9 38,180,615 (GRCm39) missense possibly damaging 0.74
IGL02150:Or8c17 APN 9 38,180,564 (GRCm39) missense possibly damaging 0.56
R0616:Or8c17 UTSW 9 38,180,630 (GRCm39) missense probably benign 0.08
R3155:Or8c17 UTSW 9 38,179,836 (GRCm39) start codon destroyed probably null 0.98
R3824:Or8c17 UTSW 9 38,179,814 (GRCm39) missense probably benign
R3825:Or8c17 UTSW 9 38,179,814 (GRCm39) missense probably benign
R4023:Or8c17 UTSW 9 38,180,757 (GRCm39) missense possibly damaging 0.83
R4687:Or8c17 UTSW 9 38,180,710 (GRCm39) missense probably damaging 1.00
R4692:Or8c17 UTSW 9 38,179,826 (GRCm39) nonsense probably null
R6171:Or8c17 UTSW 9 38,179,898 (GRCm39) nonsense probably null
R6736:Or8c17 UTSW 9 38,179,866 (GRCm39) missense probably damaging 1.00
R6950:Or8c17 UTSW 9 38,179,842 (GRCm39) missense probably damaging 1.00
R7256:Or8c17 UTSW 9 38,180,004 (GRCm39) missense probably damaging 0.98
R7774:Or8c17 UTSW 9 38,180,655 (GRCm39) missense probably damaging 0.99
R7937:Or8c17 UTSW 9 38,180,344 (GRCm39) missense probably benign 0.16
R8354:Or8c17 UTSW 9 38,180,513 (GRCm39) missense probably benign 0.02
R8772:Or8c17 UTSW 9 38,180,231 (GRCm39) missense probably benign 0.00
R8863:Or8c17 UTSW 9 38,180,655 (GRCm39) missense probably damaging 0.99
R9371:Or8c17 UTSW 9 38,179,926 (GRCm39) missense possibly damaging 0.94
Z1088:Or8c17 UTSW 9 38,179,908 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACAGCAATGGCCTATGATCGC -3'
(R):5'- GGCTTGACATAAGCAAGCATCCCAG -3'

Sequencing Primer
(F):5'- CAAAGCTGTTATGTCACCTGG -3'
(R):5'- TAAGCAAGCATCCCAGTTACATAG -3'
Posted On 2013-09-30