Incidental Mutation 'R7051:Atp5pb'
ID 547568
Institutional Source Beutler Lab
Gene Symbol Atp5pb
Ensembl Gene ENSMUSG00000000563
Gene Name ATP synthase peripheral stalk-membrane subunit b
Synonyms C76477, Atp5f1
MMRRC Submission 045148-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7051 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 105850014-105866579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105851083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 205 (N205D)
Ref Sequence ENSEMBL: ENSMUSP00000113022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118209] [ENSMUST00000133320]
AlphaFold Q9CQQ7
Predicted Effect probably benign
Transcript: ENSMUST00000118209
AA Change: N205D

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113022
Gene: ENSMUSG00000000563
AA Change: N205D

DomainStartEndE-ValueType
Pfam:Mt_ATP-synt_B 83 244 2.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133320
Predicted Effect probably benign
Transcript: ENSMUST00000199311
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (80/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik C T 8: 33,919,201 (GRCm39) S7L unknown Het
Aggf1 T C 13: 95,488,125 (GRCm39) K674R possibly damaging Het
Ampd1 T C 3: 102,997,389 (GRCm39) F264L probably damaging Het
Ankle1 A T 8: 71,860,387 (GRCm39) S302C probably damaging Het
Ankrd17 G A 5: 90,514,310 (GRCm39) probably benign Het
Arhgap18 T A 10: 26,725,917 (GRCm39) N47K possibly damaging Het
Atp8b3 C T 10: 80,355,858 (GRCm39) E1285K probably benign Het
Atp8b3 C A 10: 80,365,552 (GRCm39) V401L probably damaging Het
Cacna1a G A 8: 85,356,544 (GRCm39) R1929Q possibly damaging Het
Cadm2 C T 16: 66,679,767 (GRCm39) S22N possibly damaging Het
Ccdc177 C T 12: 80,805,927 (GRCm39) V116M probably damaging Het
Cdhr18 A G 14: 13,828,486 (GRCm38) V758A Het
Cdkl2 A T 5: 92,181,084 (GRCm39) I185N probably damaging Het
Cfhr2 T A 1: 139,738,716 (GRCm39) I282L probably benign Het
Clns1a T A 7: 97,361,824 (GRCm39) probably null Het
Commd2 A T 3: 57,554,107 (GRCm39) I198N probably damaging Het
Creb3l2 C T 6: 37,313,200 (GRCm39) V365I possibly damaging Het
Dcaf6 A T 1: 165,251,886 (GRCm39) N79K possibly damaging Het
Dlg5 T C 14: 24,196,263 (GRCm39) N1622D possibly damaging Het
Dock7 C T 4: 98,834,969 (GRCm39) R1802H probably damaging Het
Dpy19l2 T C 9: 24,495,789 (GRCm39) K643R probably benign Het
Dscam G A 16: 96,620,986 (GRCm39) T574M probably benign Het
Fam209 A G 2: 172,315,969 (GRCm39) T115A probably damaging Het
Fastkd5 C T 2: 130,456,337 (GRCm39) C751Y probably damaging Het
Fat3 C A 9: 16,289,123 (GRCm39) L133F probably damaging Het
Fcsk A T 8: 111,616,971 (GRCm39) I393N probably damaging Het
Frmd6 T C 12: 70,944,170 (GRCm39) V516A possibly damaging Het
Fry G A 5: 150,318,634 (GRCm39) D955N possibly damaging Het
Gm7298 T C 6: 121,751,993 (GRCm39) probably null Het
Golga7b T A 19: 42,256,899 (GRCm39) *168R probably null Het
Golim4 T A 3: 75,800,309 (GRCm39) Q395L probably benign Het
Gxylt2 T A 6: 100,781,537 (GRCm39) L404* probably null Het
H1f4 A G 13: 23,806,422 (GRCm39) V20A probably benign Het
Ighmbp2 G T 19: 3,311,462 (GRCm39) S984R probably damaging Het
Irf8 C T 8: 121,466,581 (GRCm39) R9W probably damaging Het
Itga4 T C 2: 79,148,470 (GRCm39) V788A possibly damaging Het
Kifap3 G A 1: 163,621,649 (GRCm39) R99H probably damaging Het
Kiss1r T C 10: 79,754,688 (GRCm39) S61P probably damaging Het
Krtap6-1 A T 16: 88,828,606 (GRCm39) M1L unknown Het
Large2 A T 2: 92,197,367 (GRCm39) M411K probably damaging Het
Lcor A G 19: 41,574,191 (GRCm39) D982G probably benign Het
Lingo1 A G 9: 56,527,467 (GRCm39) V374A probably benign Het
Lrch1 A G 14: 75,022,962 (GRCm39) V637A probably damaging Het
Lyar T C 5: 38,382,024 (GRCm39) V2A probably damaging Het
Nell1 C T 7: 50,098,592 (GRCm39) S298L unknown Het
Ogfod3 T A 11: 121,086,031 (GRCm39) I188F probably damaging Het
Opa3 C A 7: 18,978,961 (GRCm39) A142E possibly damaging Het
Or5b123 T A 19: 13,596,769 (GRCm39) M81K possibly damaging Het
Or5k1 T C 16: 58,617,538 (GRCm39) T224A probably benign Het
Pald1 T C 10: 61,159,125 (GRCm39) R769G probably benign Het
Pappa2 T A 1: 158,784,753 (GRCm39) T86S unknown Het
Papss1 T C 3: 131,307,811 (GRCm39) Y266H probably damaging Het
Pcdhga7 C A 18: 37,849,994 (GRCm39) A667D probably damaging Het
Pcsk5 T A 19: 17,411,095 (GRCm39) T1766S probably benign Het
Pds5b T A 5: 150,717,747 (GRCm39) N1129K possibly damaging Het
Pop7 T C 5: 137,499,952 (GRCm39) N127S probably damaging Het
Ppfibp2 A G 7: 107,316,925 (GRCm39) E300G probably damaging Het
Ppp4r3b A G 11: 29,132,507 (GRCm39) K87E probably damaging Het
Psmd3 T A 11: 98,573,659 (GRCm39) M35K possibly damaging Het
Pus7 A G 5: 23,980,677 (GRCm39) V191A probably damaging Het
Rptor C T 11: 119,765,012 (GRCm39) probably benign Het
Sacs A G 14: 61,446,377 (GRCm39) M2808V probably benign Het
Scube3 G A 17: 28,386,573 (GRCm39) V831I probably benign Het
Sin3a A T 9: 57,011,218 (GRCm39) N492Y probably damaging Het
Slc12a3 A G 8: 95,092,572 (GRCm39) T998A probably damaging Het
Slc4a1 T C 11: 102,247,084 (GRCm39) N501S probably benign Het
Sltm G A 9: 70,466,348 (GRCm39) G94R probably damaging Het
Smc4 T A 3: 68,934,835 (GRCm39) W650R probably damaging Het
Smg7 A G 1: 152,724,601 (GRCm39) S527P probably damaging Het
Tcf20 T C 15: 82,740,279 (GRCm39) N391D probably damaging Het
Tiam2 G A 17: 3,498,758 (GRCm39) V845M probably damaging Het
Tln2 A G 9: 67,253,699 (GRCm39) F793L probably benign Het
Uckl1 T C 2: 181,216,037 (GRCm39) I193V probably damaging Het
Ugt1a5 A G 1: 88,094,077 (GRCm39) M102V probably benign Het
Usp38 G A 8: 81,727,750 (GRCm39) P328S possibly damaging Het
Vmn1r189 A G 13: 22,286,285 (GRCm39) V184A possibly damaging Het
Vps13d C A 4: 144,889,914 (GRCm39) A597S probably benign Het
Wdr47 T A 3: 108,525,840 (GRCm39) L121Q probably damaging Het
Wiz A G 17: 32,580,507 (GRCm39) S315P probably damaging Het
Zc3h13 T C 14: 75,568,597 (GRCm39) S1297P probably damaging Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) probably benign Het
Other mutations in Atp5pb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1018:Atp5pb UTSW 3 105,861,488 (GRCm39) missense possibly damaging 0.77
R1763:Atp5pb UTSW 3 105,858,905 (GRCm39) critical splice donor site probably null
R2045:Atp5pb UTSW 3 105,851,190 (GRCm39) intron probably benign
R5213:Atp5pb UTSW 3 105,863,227 (GRCm39) nonsense probably null
R7426:Atp5pb UTSW 3 105,851,118 (GRCm39) missense probably benign 0.11
R7812:Atp5pb UTSW 3 105,851,157 (GRCm39) missense probably benign 0.10
R7896:Atp5pb UTSW 3 105,863,259 (GRCm39) missense probably damaging 1.00
R8218:Atp5pb UTSW 3 105,866,502 (GRCm39) start codon destroyed probably null 1.00
R9668:Atp5pb UTSW 3 105,863,356 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTCCACAGCTTTTATGAGCAA -3'
(R):5'- CGGGCGGGATTTTGTAACAG -3'

Sequencing Primer
(F):5'- ACTCCAGCTCCATAGGATTTGAGG -3'
(R):5'- CGGGCGGGATTTTGTAACAGTATTTC -3'
Posted On 2019-05-13