Incidental Mutation 'R4058:Atp13a3'
ID 314355
Institutional Source Beutler Lab
Gene Symbol Atp13a3
Ensembl Gene ENSMUSG00000022533
Gene Name ATPase type 13A3
Synonyms LOC224088, LOC385637, LOC224087
MMRRC Submission 040969-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.497) question?
Stock # R4058 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 30131241-30207674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30173064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 271 (C271F)
Ref Sequence ENSEMBL: ENSMUSP00000128224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061350] [ENSMUST00000100013]
AlphaFold Q5XF89
Predicted Effect possibly damaging
Transcript: ENSMUST00000061350
AA Change: C271F

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: C271F

DomainStartEndE-ValueType
Pfam:P5-ATPase 13 139 4.9e-30 PFAM
Cation_ATPase_N 154 227 7.24e0 SMART
Pfam:E1-E2_ATPase 232 483 5.1e-36 PFAM
Pfam:HAD 491 888 7.5e-28 PFAM
Pfam:Hydrolase_like2 607 661 6.8e-8 PFAM
Pfam:Hydrolase 612 790 6.5e-11 PFAM
transmembrane domain 931 953 N/A INTRINSIC
transmembrane domain 963 985 N/A INTRINSIC
transmembrane domain 997 1019 N/A INTRINSIC
transmembrane domain 1068 1085 N/A INTRINSIC
transmembrane domain 1098 1120 N/A INTRINSIC
transmembrane domain 1135 1153 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000100013
AA Change: C271F

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: C271F

DomainStartEndE-ValueType
Pfam:P5-ATPase 13 146 2.9e-38 PFAM
Cation_ATPase_N 154 227 7.24e0 SMART
Pfam:E1-E2_ATPase 232 483 7.3e-41 PFAM
Pfam:Hydrolase 488 784 1.3e-12 PFAM
Pfam:HAD 491 888 1.3e-31 PFAM
Pfam:Cation_ATPase 612 660 4.5e-7 PFAM
transmembrane domain 931 953 N/A INTRINSIC
transmembrane domain 963 985 N/A INTRINSIC
transmembrane domain 997 1019 N/A INTRINSIC
transmembrane domain 1068 1085 N/A INTRINSIC
transmembrane domain 1098 1120 N/A INTRINSIC
transmembrane domain 1135 1157 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149882
Meta Mutation Damage Score 0.2498 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 88% (38/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,821 (GRCm39) V301A probably benign Het
Adam15 A G 3: 89,254,362 (GRCm39) V145A possibly damaging Het
Anxa4 C T 6: 86,734,800 (GRCm39) probably null Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cldn34c4 C A X: 126,629,060 (GRCm39) V137F probably benign Het
Cngb1 T C 8: 95,994,282 (GRCm39) E163G probably benign Het
Dync1i1 A G 6: 5,769,764 (GRCm39) D113G probably damaging Het
Etl4 T A 2: 20,810,830 (GRCm39) V971D possibly damaging Het
Gys1 A G 7: 45,097,810 (GRCm39) probably benign Het
H13 C G 2: 152,533,794 (GRCm39) P227R probably damaging Het
Ift22 C A 5: 136,940,717 (GRCm39) P84Q unknown Het
Igfn1 A G 1: 135,897,494 (GRCm39) V1024A probably benign Het
Kdm8 T A 7: 125,055,666 (GRCm39) Y65N probably damaging Het
Lbp T A 2: 158,166,550 (GRCm39) V368E probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Megf6 T C 4: 154,326,989 (GRCm39) probably benign Het
Mettl13 G T 1: 162,373,755 (GRCm39) H165Q probably damaging Het
Mitd1 C T 1: 37,920,107 (GRCm39) S167N probably benign Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Nkx3-2 T A 5: 41,919,406 (GRCm39) E194V possibly damaging Het
Nup210 A T 6: 91,037,602 (GRCm39) V757D probably benign Het
Opcml A G 9: 28,812,884 (GRCm39) Y192C probably damaging Het
Or10ak7 T C 4: 118,791,880 (GRCm39) D53G probably damaging Het
Or5m8 T A 2: 85,822,576 (GRCm39) S138R possibly damaging Het
Pcdha2 A G 18: 37,072,935 (GRCm39) S189G probably benign Het
Pkd2l2 T C 18: 34,561,245 (GRCm39) F418L probably benign Het
Plekhg1 A G 10: 3,907,087 (GRCm39) D668G probably damaging Het
Prep G A 10: 45,034,467 (GRCm39) V660M probably benign Het
Qrfprl T A 6: 65,358,525 (GRCm39) I83N probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Rhbdd1 A G 1: 82,348,102 (GRCm39) N235D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Sgo2b A T 8: 64,379,981 (GRCm39) D950E probably damaging Het
Slc1a5 T C 7: 16,529,778 (GRCm39) V399A probably damaging Het
Spag16 A T 1: 69,892,487 (GRCm39) Q89H probably damaging Het
Spta1 T C 1: 174,068,703 (GRCm39) W2168R probably damaging Het
Taok1 T A 11: 77,440,264 (GRCm39) K581M probably benign Het
Tns3 T C 11: 8,442,275 (GRCm39) D696G probably damaging Het
Tspan8 C T 10: 115,671,187 (GRCm39) R115* probably null Het
Txnrd1 A G 10: 82,721,114 (GRCm39) E510G probably benign Het
Usp45 T C 4: 21,810,746 (GRCm39) I314T probably damaging Het
Vmn2r15 T A 5: 109,441,312 (GRCm39) H182L probably damaging Het
Vmn2r76 A C 7: 85,879,508 (GRCm39) M264R probably benign Het
Other mutations in Atp13a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Atp13a3 APN 16 30,170,097 (GRCm39) missense probably damaging 0.99
IGL00490:Atp13a3 APN 16 30,171,172 (GRCm39) missense probably benign 0.31
IGL01844:Atp13a3 APN 16 30,180,781 (GRCm39) missense probably benign 0.17
IGL01994:Atp13a3 APN 16 30,156,336 (GRCm39) missense possibly damaging 0.90
IGL02057:Atp13a3 APN 16 30,151,182 (GRCm39) missense probably benign
IGL02083:Atp13a3 APN 16 30,166,524 (GRCm39) missense possibly damaging 0.89
IGL02348:Atp13a3 APN 16 30,170,046 (GRCm39) critical splice donor site probably null
IGL02352:Atp13a3 APN 16 30,169,902 (GRCm39) missense probably damaging 1.00
IGL02359:Atp13a3 APN 16 30,169,902 (GRCm39) missense probably damaging 1.00
IGL02643:Atp13a3 APN 16 30,152,614 (GRCm39) missense probably null
IGL02687:Atp13a3 APN 16 30,156,369 (GRCm39) missense probably damaging 1.00
IGL02951:Atp13a3 APN 16 30,157,439 (GRCm39) splice site probably null
IGL03190:Atp13a3 APN 16 30,141,766 (GRCm39) missense probably benign 0.00
H8562:Atp13a3 UTSW 16 30,178,543 (GRCm39) nonsense probably null
H8786:Atp13a3 UTSW 16 30,178,543 (GRCm39) nonsense probably null
PIT4812001:Atp13a3 UTSW 16 30,181,396 (GRCm39) missense probably damaging 0.98
R0725:Atp13a3 UTSW 16 30,170,205 (GRCm39) missense probably damaging 1.00
R1208:Atp13a3 UTSW 16 30,173,065 (GRCm39) missense probably benign 0.21
R1208:Atp13a3 UTSW 16 30,173,065 (GRCm39) missense probably benign 0.21
R1244:Atp13a3 UTSW 16 30,180,654 (GRCm39) missense probably benign 0.00
R1326:Atp13a3 UTSW 16 30,171,128 (GRCm39) missense probably damaging 1.00
R1613:Atp13a3 UTSW 16 30,151,118 (GRCm39) missense probably damaging 1.00
R1672:Atp13a3 UTSW 16 30,151,092 (GRCm39) missense possibly damaging 0.96
R1709:Atp13a3 UTSW 16 30,134,659 (GRCm39) missense probably benign 0.37
R1733:Atp13a3 UTSW 16 30,176,084 (GRCm39) missense probably benign 0.35
R2086:Atp13a3 UTSW 16 30,171,116 (GRCm39) missense possibly damaging 0.89
R2128:Atp13a3 UTSW 16 30,173,094 (GRCm39) missense probably damaging 0.97
R2421:Atp13a3 UTSW 16 30,168,643 (GRCm39) missense probably benign 0.29
R3427:Atp13a3 UTSW 16 30,163,411 (GRCm39) missense probably benign 0.05
R3783:Atp13a3 UTSW 16 30,173,067 (GRCm39) missense probably damaging 1.00
R4059:Atp13a3 UTSW 16 30,173,064 (GRCm39) missense possibly damaging 0.94
R4798:Atp13a3 UTSW 16 30,160,058 (GRCm39) missense probably damaging 1.00
R5045:Atp13a3 UTSW 16 30,158,694 (GRCm39) missense probably benign 0.24
R5216:Atp13a3 UTSW 16 30,159,102 (GRCm39) missense probably damaging 1.00
R5704:Atp13a3 UTSW 16 30,140,697 (GRCm39) missense probably benign 0.18
R5876:Atp13a3 UTSW 16 30,181,552 (GRCm39) missense probably benign 0.13
R5947:Atp13a3 UTSW 16 30,181,518 (GRCm39) missense probably benign 0.01
R6291:Atp13a3 UTSW 16 30,155,061 (GRCm39) missense probably damaging 0.99
R6324:Atp13a3 UTSW 16 30,151,103 (GRCm39) missense possibly damaging 0.72
R6328:Atp13a3 UTSW 16 30,155,053 (GRCm39) missense probably damaging 0.99
R6372:Atp13a3 UTSW 16 30,162,273 (GRCm39) missense probably damaging 0.99
R6446:Atp13a3 UTSW 16 30,180,687 (GRCm39) missense probably benign 0.00
R7016:Atp13a3 UTSW 16 30,157,308 (GRCm39) missense possibly damaging 0.54
R7086:Atp13a3 UTSW 16 30,169,881 (GRCm39) missense possibly damaging 0.87
R7241:Atp13a3 UTSW 16 30,171,095 (GRCm39) missense possibly damaging 0.93
R7589:Atp13a3 UTSW 16 30,163,433 (GRCm39) missense probably benign 0.04
R8098:Atp13a3 UTSW 16 30,173,115 (GRCm39) missense possibly damaging 0.85
R8191:Atp13a3 UTSW 16 30,168,598 (GRCm39) missense probably damaging 1.00
R8299:Atp13a3 UTSW 16 30,152,619 (GRCm39) missense probably damaging 1.00
R8785:Atp13a3 UTSW 16 30,169,800 (GRCm39) missense probably benign 0.04
R9109:Atp13a3 UTSW 16 30,134,716 (GRCm39) missense possibly damaging 0.77
R9604:Atp13a3 UTSW 16 30,168,506 (GRCm39) missense probably damaging 0.99
R9800:Atp13a3 UTSW 16 30,159,051 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGTTCTTGATCCAGGTCATGC -3'
(R):5'- GACTTTTCACCTTTTACATAGGCAG -3'

Sequencing Primer
(F):5'- CTGATAAACCAGGACCCATGTGG -3'
(R):5'- TTCCCCCAGCAATATGTTA -3'
Posted On 2015-04-30