Incidental Mutation 'R2391:Or6k8-ps1'
ID 247752
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 040359-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2391 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 173979047-173980096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 173979664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 194 (V194A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179386] [ENSMUST00000213748]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000171570
AA Change: V194A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129926
Gene: ENSMUSG00000091950
AA Change: V194A

DomainStartEndE-ValueType
Pfam:7tm_4 31 266 1.4e-52 PFAM
Pfam:7tm_1 41 264 1.6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179386
AA Change: V194A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000136689
Gene: ENSMUSG00000091950
AA Change: V194A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T A 7: 115,703,461 (GRCm39) D24E probably damaging Het
Abca4 A G 3: 121,952,071 (GRCm39) H689R probably benign Het
Acss3 T G 10: 106,959,348 (GRCm39) T33P probably benign Het
BC005537 T A 13: 24,993,898 (GRCm39) Y124* probably null Het
Capn2 T C 1: 182,306,174 (GRCm39) D524G probably benign Het
Catsperb A G 12: 101,590,965 (GRCm39) Y1011C probably damaging Het
Cdk18 G T 1: 132,043,212 (GRCm39) Q438K probably benign Het
Cimap1d A T 10: 79,481,484 (GRCm39) V15E probably benign Het
Ckap5 A G 2: 91,416,214 (GRCm39) M1047V possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dmbt1 T A 7: 130,708,198 (GRCm39) I1306N probably damaging Het
Emp2 A T 16: 10,102,452 (GRCm39) I120N probably damaging Het
Gm2888 A T 14: 3,037,656 (GRCm38) D216V possibly damaging Het
Naa16 T A 14: 79,607,489 (GRCm39) H287L probably benign Het
Olfm5 A G 7: 103,810,041 (GRCm39) S107P probably benign Het
Or10q3 G T 19: 11,848,180 (GRCm39) Y133* probably null Het
Or51e2 C A 7: 102,391,581 (GRCm39) V210F possibly damaging Het
Ptpn2 A T 18: 67,808,959 (GRCm39) probably null Het
Serpinb8 A G 1: 107,534,799 (GRCm39) D290G probably damaging Het
Sfmbt2 T C 2: 10,450,504 (GRCm39) Y260H possibly damaging Het
Slc6a20a A T 9: 123,493,686 (GRCm39) V65E probably damaging Het
Spon1 C T 7: 113,486,080 (GRCm39) T210M probably damaging Het
Sugp1 T C 8: 70,512,061 (GRCm39) probably null Het
Tas2r143 C A 6: 42,377,810 (GRCm39) H213Q probably damaging Het
Terf1 C A 1: 15,875,963 (GRCm39) S21* probably null Het
Trim12a T C 7: 103,956,138 (GRCm39) E134G probably damaging Het
Trip12 TATACATACATACATACATACATACATACATAC TATACATACATACATACATACATACATACATACATAC 1: 84,792,511 (GRCm39) probably null Het
Tssk5 T C 15: 76,258,751 (GRCm39) Y45C probably benign Het
Usp29 T A 7: 6,966,770 (GRCm39) probably null Het
Wdfy4 A T 14: 32,884,764 (GRCm39) M46K possibly damaging Het
Wdr90 G A 17: 26,070,429 (GRCm39) P1104L probably damaging Het
Znhit6 T C 3: 145,300,413 (GRCm39) S230P 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
R1339:Or6k8-ps1 UTSW 1 173,979,777 (GRCm39) missense probably damaging 1.00
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
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'- ATCATGACACCCAGGCTCTG -3'
(R):5'- CTCAGAATGGTGTATAGGTGGC -3'

Sequencing Primer
(F):5'- AGGCTCTGTGCTCAGCTCAC -3'
(R):5'- TCGAAGATACATAAGGGCCACACTG -3'
Posted On 2014-11-11