Incidental Mutation 'R7241:Atp13a3'
ID 563242
Institutional Source Beutler Lab
Gene Symbol Atp13a3
Ensembl Gene ENSMUSG00000022533
Gene Name ATPase type 13A3
Synonyms LOC224088, LOC385637, LOC224087
MMRRC Submission 045348-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.497) question?
Stock # R7241 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 30131241-30207674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30171095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 317 (M317L)
Ref Sequence ENSEMBL: ENSMUSP00000128224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061350] [ENSMUST00000100013]
AlphaFold Q5XF89
Predicted Effect probably damaging
Transcript: ENSMUST00000061350
AA Change: M317L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: M317L

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: M317L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: M317L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,846,184 (GRCm39) T612A probably damaging Het
Acacb G A 5: 114,383,161 (GRCm39) A2115T possibly damaging Het
Adam32 T C 8: 25,388,510 (GRCm39) K398R probably benign Het
Adam9 T A 8: 25,441,002 (GRCm39) I824F possibly damaging Het
Ahnak A G 19: 8,986,395 (GRCm39) I2560V possibly damaging Het
Ank3 G A 10: 69,542,644 (GRCm39) M1I probably null Het
Anks1b T G 10: 90,348,699 (GRCm39) I789S probably damaging Het
Ap2b1 T A 11: 83,241,931 (GRCm39) N641K probably benign Het
Arhgap33 A G 7: 30,228,146 (GRCm39) L412P probably damaging Het
B4galt5 A G 2: 167,148,617 (GRCm39) L167P probably damaging Het
Bace2 T C 16: 97,237,998 (GRCm39) I483T possibly damaging Het
C2cd3 A C 7: 100,056,257 (GRCm39) K177T Het
Ccr4 T C 9: 114,322,024 (GRCm39) T14A probably benign Het
Cep250 A T 2: 155,833,472 (GRCm39) H1799L probably benign Het
Cgnl1 T C 9: 71,632,052 (GRCm39) Q433R probably benign Het
Copb1 C T 7: 113,836,591 (GRCm39) V384M probably damaging Het
Cyp2c50 T A 19: 40,079,012 (GRCm39) N118K probably benign Het
Cyp4a32 A G 4: 115,459,499 (GRCm39) I78V probably benign Het
Cyth4 A G 15: 78,491,245 (GRCm39) K108R probably benign Het
Dnah1 T C 14: 30,986,896 (GRCm39) H3632R probably benign Het
Dnah3 T C 7: 119,542,856 (GRCm39) I540V probably benign Het
Dock4 A G 12: 40,844,859 (GRCm39) Y1174C probably damaging Het
Drd5 A G 5: 38,477,879 (GRCm39) T291A probably damaging Het
Eeig1 A G 2: 32,448,076 (GRCm39) R62G probably benign Het
Fbn1 T C 2: 125,148,415 (GRCm39) N2611S possibly damaging Het
Fcsk A G 8: 111,622,529 (GRCm39) I133T probably benign Het
Fhod3 A G 18: 25,193,409 (GRCm39) E640G probably damaging Het
Flvcr2 T A 12: 85,852,013 (GRCm39) D522E probably benign Het
Ganc T A 2: 120,272,010 (GRCm39) I556K probably damaging Het
Gjc2 T A 11: 59,067,960 (GRCm39) E174V unknown Het
Gzmd G A 14: 56,368,799 (GRCm39) R32C probably damaging Het
Hltf T A 3: 20,119,556 (GRCm39) H200Q probably benign Het
Ift88 A G 14: 57,717,454 (GRCm39) I559M probably damaging Het
Ighv1-62-1 C A 12: 115,350,322 (GRCm39) C115F probably damaging Het
Impdh2 A G 9: 108,440,636 (GRCm39) N279S possibly damaging Het
Itpr1 T C 6: 108,494,581 (GRCm39) probably null Het
Kansl1l T C 1: 66,840,787 (GRCm39) N171S possibly damaging Het
Kif14 T A 1: 136,396,491 (GRCm39) C266S probably benign Het
Kif19b A G 5: 140,447,943 (GRCm39) T137A probably damaging Het
Lrriq1 A C 10: 103,051,834 (GRCm39) V306G probably damaging Het
Mast4 G A 13: 103,470,508 (GRCm39) R65W possibly damaging Het
Mex3d T C 10: 80,223,091 (GRCm39) D55G Het
Mrps27 A T 13: 99,547,788 (GRCm39) K233* probably null Het
Myo1f A G 17: 33,798,902 (GRCm39) N189S probably damaging Het
Nbn A T 4: 15,991,190 (GRCm39) K729N probably benign Het
Or1e35 T C 11: 73,798,058 (GRCm39) S87G probably benign Het
Or8k35 C A 2: 86,424,498 (GRCm39) V225F possibly damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Plaat5 A G 19: 7,591,946 (GRCm39) T121A probably benign Het
Polr1e A C 4: 45,029,340 (GRCm39) H315P probably damaging Het
Pou6f2 A G 13: 18,299,874 (GRCm39) V595A Het
Prdm15 T C 16: 97,596,941 (GRCm39) D960G possibly damaging Het
Prkcz A T 4: 155,353,516 (GRCm39) M460K probably benign Het
Prkd2 G T 7: 16,591,730 (GRCm39) R587L probably benign Het
Prkn C A 17: 12,073,748 (GRCm39) N355K possibly damaging Het
Rabep1 C A 11: 70,830,815 (GRCm39) T829N probably damaging Het
Rptn A G 3: 93,303,261 (GRCm39) E198G probably benign Het
Ryr2 A T 13: 11,680,799 (GRCm39) I3182N possibly damaging Het
Sectm1a T A 11: 120,960,708 (GRCm39) I36F possibly damaging Het
Sez6l T C 5: 112,621,346 (GRCm39) S243G probably benign Het
Spata31h1 T C 10: 82,122,876 (GRCm39) E3378G probably benign Het
Taf2 T A 15: 54,925,537 (GRCm39) H235L probably benign Het
Tbc1d7 T C 13: 43,306,493 (GRCm39) Q161R probably benign Het
Tfcp2 T C 15: 100,416,468 (GRCm39) T271A possibly damaging Het
Thrsp G T 7: 97,066,295 (GRCm39) T139K probably damaging Het
Timm10 T A 2: 84,660,333 (GRCm39) *91R probably null Het
Tlr11 T A 14: 50,599,598 (GRCm39) I528N possibly damaging Het
Tnnt2 T A 1: 135,779,444 (GRCm39) L278Q probably damaging Het
Toe1 A T 4: 116,664,715 (GRCm39) M1K probably null Het
Trpv5 G A 6: 41,652,242 (GRCm39) R148* probably null Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Ttn A G 2: 76,783,550 (GRCm39) V860A unknown Het
Txnip T C 3: 96,466,991 (GRCm39) Y222H probably damaging Het
Ubr4 G A 4: 139,170,725 (GRCm39) S1600N probably damaging Het
Uhrf1 T C 17: 56,622,193 (GRCm39) Y364H probably damaging Het
Unc5a A T 13: 55,138,833 (GRCm39) T71S probably damaging Het
Vmn1r123 A T 7: 20,896,537 (GRCm39) Y143F possibly damaging Het
Vmn1r180 T A 7: 23,651,891 (GRCm39) I18N probably damaging Het
Washc2 A G 6: 116,185,168 (GRCm39) M1V probably null Het
Zfp174 C A 16: 3,666,111 (GRCm39) H125Q probably benign Het
Zfpl1 T C 19: 6,131,943 (GRCm39) H227R possibly damaging 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
R4058:Atp13a3 UTSW 16 30,173,064 (GRCm39) missense possibly damaging 0.94
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
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'- CAGAAGTGATTATAGTTTCCAGCC -3'
(R):5'- ACTCCATGTGATGCAATTGTGG -3'

Sequencing Primer
(F):5'- CCAGCCTAGAATGTAGTCTATCTAC -3'
(R):5'- GTGGTATTAACCCTACTGTAGCAG -3'
Posted On 2019-06-26