Incidental Mutation 'R7267:Or51q1c'
ID 564993
Institutional Source Beutler Lab
Gene Symbol Or51q1c
Ensembl Gene ENSMUSG00000094063
Gene Name olfactory receptor family 51 subfamily Q member 1C
Synonyms Olfr638, MOR5-1, GA_x6K02T2PBJ9-6737723-6738670
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R7267 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103652466-103653431 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103653046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 188 (H188R)
Ref Sequence ENSEMBL: ENSMUSP00000151996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000138055] [ENSMUST00000209757] [ENSMUST00000215653] [ENSMUST00000218325]
AlphaFold Q8VH20
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209757
AA Change: H194R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215653
Predicted Effect probably benign
Transcript: ENSMUST00000218325
AA Change: H188R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,916,205 (GRCm39) I37T probably damaging Het
Ackr2 A G 9: 121,737,874 (GRCm39) Y83C probably damaging Het
Adam19 C T 11: 46,012,403 (GRCm39) Q300* probably null Het
Anxa7 C T 14: 20,519,474 (GRCm39) A115T probably benign Het
Aoc1l3 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,964,952 (GRCm39) probably benign Het
Atad2b A T 12: 5,077,105 (GRCm39) R1109* probably null Het
Batf2 A G 19: 6,221,396 (GRCm39) T69A probably benign Het
Best1 A G 19: 9,964,177 (GRCm39) C428R probably benign Het
Birc6 A G 17: 74,892,980 (GRCm39) T973A probably benign Het
Bmp2k C T 5: 97,216,293 (GRCm39) T597I unknown Het
Bmpr1a G A 14: 34,165,836 (GRCm39) P57L possibly damaging Het
Camk2d A T 3: 126,591,379 (GRCm39) H283L possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ces1b C A 8: 93,806,132 (GRCm39) K36N possibly damaging Het
Ces2a T A 8: 105,465,672 (GRCm39) M308K probably benign Het
Ctnnd2 C A 15: 30,683,501 (GRCm39) Q501K probably benign Het
Cyb561d1 T C 3: 108,106,629 (GRCm39) T197A probably benign Het
Dedd2 C A 7: 24,918,391 (GRCm39) A55S probably damaging Het
Dnah2 C T 11: 69,391,643 (GRCm39) R684Q probably damaging Het
Elovl3 A G 19: 46,122,979 (GRCm39) Y185C probably damaging Het
Fgf3 C T 7: 144,392,569 (GRCm39) A42V probably damaging Het
Gabra5 A G 7: 57,140,529 (GRCm39) L56P probably damaging Het
Gm19410 T G 8: 36,281,997 (GRCm39) V1860G possibly damaging Het
Gm21663 G T 5: 26,143,751 (GRCm39) N190K probably damaging Het
Grm3 T A 5: 9,639,581 (GRCm39) I155L probably benign Het
Hadha A G 5: 30,327,755 (GRCm39) I495T probably damaging Het
Herc4 C T 10: 63,109,365 (GRCm39) A200V possibly damaging Het
Itga3 C A 11: 94,967,188 (GRCm39) probably benign Het
Krt6a C T 15: 101,602,289 (GRCm39) S132N probably benign Het
Lpar1 T C 4: 58,486,857 (GRCm39) N138S possibly damaging Het
Lrrc42 T A 4: 107,096,983 (GRCm39) T247S probably damaging Het
Man2b1 T A 8: 85,813,804 (GRCm39) V256E probably damaging Het
Map3k4 G T 17: 12,490,536 (GRCm39) Y298* probably null Het
Mars1 A G 10: 127,144,455 (GRCm39) V195A probably benign Het
Mdm4 A T 1: 132,922,311 (GRCm39) V278E probably benign Het
Mdp1 A G 14: 55,897,544 (GRCm39) V37A probably damaging Het
Med13 A G 11: 86,199,652 (GRCm39) I685T probably benign Het
Mobp A G 9: 119,996,914 (GRCm39) N15S probably damaging Het
Nbn T A 4: 15,979,320 (GRCm39) M435K probably benign Het
Nfs1 A G 2: 155,965,703 (GRCm39) V126A probably benign Het
Npepl1 T A 2: 173,963,909 (GRCm39) V480E probably damaging Het
Nr2e3 G A 9: 59,855,972 (GRCm39) S155F possibly damaging Het
Oplah T C 15: 76,189,209 (GRCm39) D278G probably benign Het
Or4c124 A T 2: 89,156,157 (GRCm39) Y122* probably null Het
Pard3 T C 8: 128,098,056 (GRCm39) Y366H probably damaging Het
Pcdhb11 A G 18: 37,555,006 (GRCm39) N112S possibly damaging Het
Pde11a A G 2: 76,168,189 (GRCm39) S255P probably damaging Het
Piezo1 T C 8: 123,224,268 (GRCm39) H745R Het
Pkn2 A T 3: 142,517,776 (GRCm39) S441T possibly damaging Het
Pld1 A C 3: 28,130,550 (GRCm39) H450P probably damaging Het
Plekhs1 T A 19: 56,459,209 (GRCm39) H22Q probably damaging Het
Prss44 A C 9: 110,645,611 (GRCm39) Y285S probably damaging Het
Qpctl T C 7: 18,878,852 (GRCm39) E249G probably benign Het
Rcsd1 A T 1: 165,491,185 (GRCm39) S50T probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scube1 T A 15: 83,505,266 (GRCm39) N496Y probably damaging Het
Skic3 A G 13: 76,328,196 (GRCm39) M1415V probably benign Het
Slc16a8 AGGCC A 15: 79,136,125 (GRCm39) probably null Het
Slc38a4 T A 15: 96,903,781 (GRCm39) T407S probably benign Het
Slc51a T G 16: 32,298,590 (GRCm39) I56L probably benign Het
Slc6a18 T G 13: 73,819,755 (GRCm39) I272L probably damaging Het
Sorl1 A G 9: 42,035,375 (GRCm39) L12P possibly damaging Het
Sycp2l A T 13: 41,300,070 (GRCm39) D428V possibly damaging Het
Syne1 C T 10: 5,178,218 (GRCm39) R4752Q probably damaging Het
Tbc1d9 C A 8: 83,997,957 (GRCm39) H1171Q probably damaging Het
Thsd1 G A 8: 22,733,597 (GRCm39) V215I probably benign Het
Tmem143 T A 7: 45,557,598 (GRCm39) M208K probably benign Het
Tmem63b C T 17: 45,977,048 (GRCm39) V440I probably benign Het
Tnik A T 3: 28,700,776 (GRCm39) S918C probably damaging Het
Ttn A G 2: 76,733,751 (GRCm39) I4508T unknown Het
Vav2 A G 2: 27,173,334 (GRCm39) F497L probably damaging Het
Zc3h14 G A 12: 98,751,988 (GRCm39) R730Q probably damaging Het
Zfp560 G A 9: 20,259,384 (GRCm39) H493Y probably damaging Het
Other mutations in Or51q1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Or51q1c APN 7 103,652,842 (GRCm39) missense probably damaging 1.00
IGL01901:Or51q1c APN 7 103,653,274 (GRCm39) missense probably damaging 1.00
IGL02040:Or51q1c APN 7 103,652,614 (GRCm39) missense probably damaging 1.00
IGL02756:Or51q1c APN 7 103,652,866 (GRCm39) missense probably damaging 1.00
R0122:Or51q1c UTSW 7 103,652,565 (GRCm39) missense probably damaging 1.00
R0137:Or51q1c UTSW 7 103,652,709 (GRCm39) missense probably benign 0.13
R0312:Or51q1c UTSW 7 103,653,232 (GRCm39) missense probably damaging 1.00
R0650:Or51q1c UTSW 7 103,652,446 (GRCm39) splice site probably null
R0652:Or51q1c UTSW 7 103,652,446 (GRCm39) splice site probably null
R1382:Or51q1c UTSW 7 103,652,927 (GRCm39) missense probably benign 0.01
R1700:Or51q1c UTSW 7 103,653,329 (GRCm39) nonsense probably null
R1723:Or51q1c UTSW 7 103,652,518 (GRCm39) missense probably damaging 0.97
R1745:Or51q1c UTSW 7 103,653,270 (GRCm39) missense probably benign 0.02
R1840:Or51q1c UTSW 7 103,653,324 (GRCm39) missense probably benign 0.00
R3408:Or51q1c UTSW 7 103,652,550 (GRCm39) nonsense probably null
R3413:Or51q1c UTSW 7 103,653,039 (GRCm39) missense probably damaging 0.99
R4441:Or51q1c UTSW 7 103,653,279 (GRCm39) missense probably damaging 1.00
R4727:Or51q1c UTSW 7 103,653,097 (GRCm39) missense probably benign 0.00
R5096:Or51q1c UTSW 7 103,652,667 (GRCm39) missense probably benign 0.08
R5851:Or51q1c UTSW 7 103,652,659 (GRCm39) missense probably benign 0.13
R6133:Or51q1c UTSW 7 103,652,532 (GRCm39) missense possibly damaging 0.58
R6529:Or51q1c UTSW 7 103,653,133 (GRCm39) missense probably benign 0.06
R6572:Or51q1c UTSW 7 103,648,391 (GRCm39) splice site probably null
R6799:Or51q1c UTSW 7 103,648,006 (GRCm39) critical splice donor site probably null
R9140:Or51q1c UTSW 7 103,653,322 (GRCm39) missense probably damaging 1.00
X0018:Or51q1c UTSW 7 103,652,638 (GRCm39) missense probably benign
X0063:Or51q1c UTSW 7 103,652,734 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATTGGCCATGTCCTTTGACCG -3'
(R):5'- GAACAGCTAGCATGTGGGAC -3'

Sequencing Primer
(F):5'- TGACCGTTATGTGGCCATC -3'
(R):5'- CAGACAGTTGTTGAGAGCCC -3'
Posted On 2019-06-26