Incidental Mutation 'R5550:Atp5po'
ID 501145
Institutional Source Beutler Lab
Gene Symbol Atp5po
Ensembl Gene ENSMUSG00000022956
Gene Name ATP synthase peripheral stalk subunit OSCP
Synonyms D12Wsu28e, Atp5o
MMRRC Submission 043107-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5550 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 91722111-91728518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91727292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 15 (V15F)
Ref Sequence ENSEMBL: ENSMUSP00000156308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023677] [ENSMUST00000139277] [ENSMUST00000154661] [ENSMUST00000155452] [ENSMUST00000159295]
AlphaFold Q9DB20
Predicted Effect probably damaging
Transcript: ENSMUST00000023677
AA Change: V13F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023677
Gene: ENSMUSG00000022956
AA Change: V13F

DomainStartEndE-ValueType
Pfam:OSCP 37 209 2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132049
Predicted Effect probably benign
Transcript: ENSMUST00000139277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150642
Predicted Effect probably damaging
Transcript: ENSMUST00000154661
AA Change: V15F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000155452
AA Change: V10F

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118216
Gene: ENSMUSG00000022956
AA Change: V10F

DomainStartEndE-ValueType
Pfam:OSCP 34 67 1e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159295
SMART Domains Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933

DomainStartEndE-ValueType
Pfam:OSCP 1 89 1.1e-16 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,900,129 (GRCm39) I1295M probably benign Het
Adgrb2 G T 4: 129,908,727 (GRCm39) probably null Het
Adig A T 2: 158,349,880 (GRCm39) probably benign Het
Bdh2 A G 3: 134,994,074 (GRCm39) K52R probably benign Het
Bud23 A G 5: 135,092,744 (GRCm39) V27A probably benign Het
Ces2b A G 8: 105,565,069 (GRCm39) D551G probably benign Het
Csmd3 G C 15: 48,048,753 (GRCm39) S446C probably damaging Het
Dio3 A T 12: 110,246,560 (GRCm39) T299S probably benign Het
Dnah1 T A 14: 31,038,665 (GRCm39) I139F probably benign Het
Dpy30 A G 17: 74,622,920 (GRCm39) Y21H probably benign Het
Gbp4 C T 5: 105,269,911 (GRCm39) V306M probably damaging Het
Gcat G A 15: 78,926,411 (GRCm39) V94M probably benign Het
H2bc27 A G 11: 58,840,146 (GRCm39) *127W probably null Het
Henmt1 A G 3: 108,861,184 (GRCm39) Y69C probably damaging Het
Kank4 A G 4: 98,659,678 (GRCm39) F800S probably benign Het
Lrrc37a T A 11: 103,389,003 (GRCm39) T2141S unknown Het
Map3k4 G A 17: 12,462,445 (GRCm39) R1143* probably null Het
Mdc1 A G 17: 36,156,776 (GRCm39) D61G possibly damaging Het
Nfkbid T A 7: 30,125,426 (GRCm39) L303Q probably damaging Het
Or2ag15 T C 7: 106,340,340 (GRCm39) N267S probably benign Het
Or6c75 A G 10: 129,337,652 (GRCm39) N300D probably damaging Het
P2ry1 T C 3: 60,911,232 (GRCm39) C124R probably damaging Het
Sntg1 C T 1: 8,695,008 (GRCm39) C153Y probably damaging Het
Speg A T 1: 75,405,744 (GRCm39) T2983S probably damaging Het
Tbc1d2 G A 4: 46,646,138 (GRCm39) P163S probably benign Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnks2 T A 19: 36,839,746 (GRCm39) V78E probably damaging Het
Trip12 A G 1: 84,738,820 (GRCm39) C709R probably damaging Het
Xpo5 T A 17: 46,545,418 (GRCm39) V828D possibly damaging Het
Other mutations in Atp5po
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02158:Atp5po APN 16 91,727,289 (GRCm39) missense probably damaging 1.00
IGL02547:Atp5po APN 16 91,725,849 (GRCm39) missense probably damaging 1.00
IGL02626:Atp5po APN 16 91,483,201 (GRCm39) missense probably damaging 1.00
IGL02632:Atp5po APN 16 91,725,830 (GRCm39) missense probably benign 0.15
R0644:Atp5po UTSW 16 91,723,372 (GRCm39) missense probably damaging 0.99
R3410:Atp5po UTSW 16 91,725,794 (GRCm39) missense probably damaging 1.00
R3411:Atp5po UTSW 16 91,725,794 (GRCm39) missense probably damaging 1.00
R5543:Atp5po UTSW 16 91,723,418 (GRCm39) missense probably benign 0.00
R7257:Atp5po UTSW 16 91,723,755 (GRCm39) missense probably damaging 1.00
R7781:Atp5po UTSW 16 91,723,417 (GRCm39) missense possibly damaging 0.61
R9313:Atp5po UTSW 16 91,723,805 (GRCm39) frame shift probably null
R9313:Atp5po UTSW 16 91,723,804 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ACTCATCTGGGAACTGCCAC -3'
(R):5'- TTGGGAAGTTAGCAGCTTTTCTCTC -3'

Sequencing Primer
(F):5'- ATCTGGGAACTGCCACCCTTG -3'
(R):5'- TCTCTCAGCTATCCAGGGAG -3'
Posted On 2017-12-01