Incidental Mutation 'IGL02158:Atp5po'
ID 282299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp5po
Ensembl Gene ENSMUSG00000022956
Gene Name ATP synthase peripheral stalk subunit OSCP
Synonyms D12Wsu28e, Atp5o
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02158
Quality Score
Status
Chromosome 16
Chromosomal Location 91722111-91728518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91727289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 16 (R16W)
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: R14W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023677
Gene: ENSMUSG00000022956
AA Change: R14W

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: R16W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000155452
AA Change: R11W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118216
Gene: ENSMUSG00000022956
AA Change: R11W

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,163,902 (GRCm39) probably null Het
Abca2 A G 2: 25,337,891 (GRCm39) probably benign Het
Abcb11 A T 2: 69,130,269 (GRCm39) S262R probably damaging Het
Abhd12 T A 2: 150,690,341 (GRCm39) Q118L probably benign Het
Adam1a A T 5: 121,657,034 (GRCm39) L753* probably null Het
Ahctf1 A T 1: 179,607,217 (GRCm39) I699N possibly damaging Het
Arl11 C A 14: 61,548,487 (GRCm39) A99E probably damaging Het
AW551984 T C 9: 39,510,621 (GRCm39) H238R probably null Het
Bpifb9a C A 2: 154,108,733 (GRCm39) probably benign Het
Carhsp1 A G 16: 8,481,577 (GRCm39) probably benign Het
Ccdc33 T C 9: 57,937,702 (GRCm39) D623G probably damaging Het
Chd6 C A 2: 160,868,212 (GRCm39) R378L possibly damaging Het
Chn2 T C 6: 54,277,230 (GRCm39) probably benign Het
Clgn T G 8: 84,149,765 (GRCm39) I422S probably damaging Het
Col15a1 T A 4: 47,300,606 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2c39 T C 19: 39,556,574 (GRCm39) I470T probably benign Het
Dcaf11 T A 14: 55,801,980 (GRCm39) probably null Het
Dnah1 G T 14: 31,022,924 (GRCm39) T1071K probably benign Het
Dnah2 T A 11: 69,348,949 (GRCm39) M2513L probably benign Het
Dqx1 A G 6: 83,035,891 (GRCm39) probably benign Het
Gm1587 T C 14: 78,036,282 (GRCm39) E8G unknown Het
Hydin T C 8: 111,336,598 (GRCm39) I5125T possibly damaging Het
Ighv5-9 G T 12: 113,625,563 (GRCm39) P60Q probably damaging Het
Itga7 T G 10: 128,789,651 (GRCm39) L993R possibly damaging Het
Itpr3 A G 17: 27,317,416 (GRCm39) N857S probably damaging Het
Krt23 C T 11: 99,383,490 (GRCm39) probably benign Het
Lrp1 T C 10: 127,390,140 (GRCm39) N3093S probably benign Het
Mms22l T C 4: 24,505,349 (GRCm39) F203S probably damaging Het
Morn5 A G 2: 35,947,088 (GRCm39) D122G probably damaging Het
Mpp2 G T 11: 101,954,088 (GRCm39) L220I probably benign Het
Mrgpra6 A T 7: 46,835,700 (GRCm39) Y240* probably null Het
Mtmr12 T C 15: 12,238,016 (GRCm39) I165T probably damaging Het
Mylk2 C A 2: 152,761,077 (GRCm39) N428K probably damaging Het
Nfil3 A G 13: 53,122,188 (GRCm39) Y239H probably damaging Het
Notch1 A G 2: 26,350,351 (GRCm39) L2263P probably damaging Het
Or2g7 T A 17: 38,378,158 (GRCm39) I32N probably damaging Het
Or8b101 A G 9: 38,020,425 (GRCm39) M148V probably benign Het
P3h3 A T 6: 124,830,055 (GRCm39) Y387N probably damaging Het
Pdcd6ip A T 9: 113,509,121 (GRCm39) Y324* probably null Het
Plcb2 C A 2: 118,541,844 (GRCm39) R922L probably benign Het
Pml T C 9: 58,154,286 (GRCm39) T196A probably benign Het
Ppp2r1b C A 9: 50,772,909 (GRCm39) Q65K probably benign Het
Ric8a A G 7: 140,442,270 (GRCm39) T507A probably benign Het
Sec16a A G 2: 26,306,644 (GRCm39) probably null Het
Slc46a3 G T 5: 147,823,044 (GRCm39) T266N probably damaging Het
Smg1 A G 7: 117,812,169 (GRCm39) S41P possibly damaging Het
Snrnp200 T A 2: 127,079,403 (GRCm39) N1837K probably benign Het
Sptan1 A G 2: 29,920,336 (GRCm39) T2318A probably damaging Het
St7l C T 3: 104,782,148 (GRCm39) T175I possibly damaging Het
Tmc7 G A 7: 118,137,434 (GRCm39) R703C probably damaging Het
Urah A G 7: 140,416,799 (GRCm39) probably benign Het
Vmn1r42 A T 6: 89,822,296 (GRCm39) I91N probably damaging Het
Yy1 T A 12: 108,780,525 (GRCm39) probably benign Het
Other mutations in Atp5po
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5550:Atp5po UTSW 16 91,727,292 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16