Incidental Mutation 'R1339:Or6k8-ps1'
ID 156954
Institutional Source Beutler Lab
Gene Symbol Or6k8-ps1
Ensembl Gene ENSMUSG00000091950
Gene Name olfactory receptor family 6 subfamily K member 8, pseudogene 1
Synonyms Olfr421, Olfr422-ps1, GA_x6K02T2P20D-21002372-21001425, Olfr421-ps1, GA_x6K02T2P20D-21006310-21006124, MOR105-3
MMRRC Submission 039404-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1339 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 173979047-173980096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 173979777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 232 (G232C)
Ref Sequence ENSEMBL: ENSMUSP00000136689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179386] [ENSMUST00000213748]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000171570
AA Change: G232C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129926
Gene: ENSMUSG00000091950
AA Change: G232C

DomainStartEndE-ValueType
Pfam:7tm_4 31 266 1.4e-52 PFAM
Pfam:7tm_1 41 264 1.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179386
AA Change: G232C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136689
Gene: ENSMUSG00000091950
AA Change: G232C

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
Pfam:7tm_1 41 288 5.6e-29 PFAM
Pfam:7tm_4 139 285 4.7e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213748
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Adamts20 A T 15: 94,220,777 (GRCm39) N1385K probably benign Het
Cplane2 A G 4: 140,945,859 (GRCm39) E134G probably damaging Het
Cyp4a32 A G 4: 115,468,760 (GRCm39) Y382C probably damaging Het
Dtnbp1 G A 13: 45,076,696 (GRCm39) S237L probably damaging Het
Foxi1 T C 11: 34,155,866 (GRCm39) T255A probably benign Het
Ifi208 A C 1: 173,510,804 (GRCm39) T320P probably damaging Het
Inhbc C A 10: 127,193,510 (GRCm39) V169L probably benign Het
Irf7 G A 7: 140,843,617 (GRCm39) R320C probably damaging Het
Marchf6 T C 15: 31,486,548 (GRCm39) T336A probably benign Het
Masp1 C A 16: 23,271,217 (GRCm39) C677F probably damaging Het
Mei1 A G 15: 81,966,196 (GRCm39) R323G possibly damaging Het
Or2a7 G C 6: 43,151,544 (GRCm39) G208A probably benign Het
Pira13 A G 7: 3,825,155 (GRCm39) Y496H probably damaging Het
Rel C T 11: 23,695,763 (GRCm39) C208Y probably damaging Het
Shc2 T G 10: 79,462,250 (GRCm39) T298P probably benign Het
Syne1 G A 10: 5,317,571 (GRCm39) L508F probably damaging Het
Ubn1 A G 16: 4,873,199 (GRCm39) K74E probably damaging Het
Other mutations in Or6k8-ps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Or6k8-ps1 APN 1 173,979,102 (GRCm39) missense probably benign 0.06
IGL03000:Or6k8-ps1 APN 1 173,979,126 (GRCm39) missense probably benign 0.00
R0529:Or6k8-ps1 UTSW 1 173,979,696 (GRCm39) missense probably benign 0.01
R0574:Or6k8-ps1 UTSW 1 173,979,132 (GRCm39) missense probably benign 0.13
R1658:Or6k8-ps1 UTSW 1 173,979,789 (GRCm39) missense probably damaging 1.00
R1822:Or6k8-ps1 UTSW 1 173,979,780 (GRCm39) missense probably benign 0.20
R1991:Or6k8-ps1 UTSW 1 173,979,687 (GRCm39) missense probably damaging 1.00
R2391:Or6k8-ps1 UTSW 1 173,979,664 (GRCm39) missense probably benign 0.10
R4299:Or6k8-ps1 UTSW 1 173,979,878 (GRCm39) nonsense probably null
R4688:Or6k8-ps1 UTSW 1 173,979,162 (GRCm39) missense possibly damaging 0.81
R5241:Or6k8-ps1 UTSW 1 173,979,667 (GRCm39) missense probably benign 0.02
R5421:Or6k8-ps1 UTSW 1 173,979,861 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTGGCCCCAATCAAATCACTCAGATA -3'
(R):5'- TGCAGTCATTCTTCAGCATCAGGTTTT -3'

Sequencing Primer
(F):5'- CACTCAGATATTCTGTGATTTCACC -3'
(R):5'- CATGTCCTTATTTCTCAGGCTG -3'
Posted On 2014-02-11