Incidental Mutation 'R5947:Atp13a3'
ID 472255
Institutional Source Beutler Lab
Gene Symbol Atp13a3
Ensembl Gene ENSMUSG00000022533
Gene Name ATPase type 13A3
Synonyms LOC224088, LOC385637, LOC224087
MMRRC Submission 044138-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.497) question?
Stock # R5947 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 30131241-30207674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30181518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 34 (V34A)
Ref Sequence ENSEMBL: ENSMUSP00000128224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061350] [ENSMUST00000100013] [ENSMUST00000229616]
AlphaFold Q5XF89
Predicted Effect probably benign
Transcript: ENSMUST00000061350
AA Change: V34A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: V34A

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 probably benign
Transcript: ENSMUST00000100013
AA Change: V34A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: V34A

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: ENSMUST00000153656
Predicted Effect probably benign
Transcript: ENSMUST00000229616
AA Change: V34A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (70/70)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 124,694,737 (GRCm39) probably null Het
Abt1 T C 13: 23,606,225 (GRCm39) E243G possibly damaging Het
Afap1l1 A G 18: 61,876,771 (GRCm39) S361P probably damaging Het
Alms1 T C 6: 85,596,694 (GRCm39) S507P probably benign Het
Atpaf2 A T 11: 60,296,708 (GRCm39) probably benign Het
Bbs1 A C 19: 4,943,022 (GRCm39) L456R probably benign Het
Bri3bp G T 5: 125,529,217 (GRCm39) G84* probably null Het
Bri3bp G C 5: 125,529,218 (GRCm39) probably benign Het
Car10 A C 11: 93,381,439 (GRCm39) H134P probably damaging Het
Cntrl A G 2: 35,006,691 (GRCm39) E119G probably damaging Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Dppa4 T C 16: 48,111,471 (GRCm39) V100A possibly damaging Het
Elmo1 G T 13: 20,474,553 (GRCm39) E105* probably null Het
Esrp2 T G 8: 106,859,565 (GRCm39) probably benign Het
Exoc3l4 A G 12: 111,388,835 (GRCm39) K108R possibly damaging Het
Exph5 G A 9: 53,286,522 (GRCm39) R1201H probably benign Het
Galnt3 A C 2: 65,914,500 (GRCm39) probably benign Het
Gm14486 C T 2: 30,548,813 (GRCm39) noncoding transcript Het
Gna12 T A 5: 140,746,717 (GRCm39) I243F probably damaging Het
Itga5 A T 15: 103,265,212 (GRCm39) W232R probably damaging Het
Lekr1 A T 3: 65,680,498 (GRCm39) noncoding transcript Het
Lrp1 C T 10: 127,425,423 (GRCm39) probably null Het
Mast4 T C 13: 102,872,148 (GRCm39) M2215V probably benign Het
Mfap5 T C 6: 122,502,945 (GRCm39) Y52H probably damaging Het
Mrps31 A G 8: 22,904,991 (GRCm39) K127E possibly damaging Het
Mto1 C T 9: 78,368,311 (GRCm39) T485M probably damaging Het
Mybbp1a G A 11: 72,333,257 (GRCm39) C107Y probably damaging Het
Nedd4 G A 9: 72,638,132 (GRCm39) probably benign Het
Nek2 A G 1: 191,561,597 (GRCm39) E360G probably benign Het
Notch1 T A 2: 26,352,540 (GRCm39) probably benign Het
Nubp1 T C 16: 10,238,050 (GRCm39) probably benign Het
Pcdhb1 G A 18: 37,399,726 (GRCm39) R559H possibly damaging Het
Pdcd11 G A 19: 47,117,702 (GRCm39) V1684I probably benign Het
Pggt1b G T 18: 46,382,007 (GRCm39) N258K probably benign Het
Pou6f1 C T 15: 100,484,001 (GRCm39) V166M possibly damaging Het
Pprc1 A G 19: 46,052,111 (GRCm39) D546G possibly damaging Het
Psapl1 T C 5: 36,361,651 (GRCm39) V81A probably benign Het
Rin2 T A 2: 145,686,863 (GRCm39) probably benign Het
Rpf1 A G 3: 146,212,299 (GRCm39) F347S probably damaging Het
Rrp12 A T 19: 41,859,247 (GRCm39) probably null Het
Ryr1 A T 7: 28,771,349 (GRCm39) L2557Q probably null Het
Slc1a7 T C 4: 107,867,497 (GRCm39) probably benign Het
Slc35e2 T A 4: 155,696,171 (GRCm39) M186K possibly damaging Het
Slc49a4 T C 16: 35,550,676 (GRCm39) T308A probably benign Het
Snx6 G T 12: 54,817,549 (GRCm39) S116* probably null Het
Sptan1 T C 2: 29,884,379 (GRCm39) probably null Het
Sucla2 T A 14: 73,830,109 (GRCm39) M382K probably damaging Het
Susd5 T C 9: 113,886,659 (GRCm39) L16P possibly damaging Het
Tmem260 G A 14: 48,724,258 (GRCm39) A369T possibly damaging Het
Tmprss6 A G 15: 78,336,722 (GRCm39) Y393H probably damaging Het
Tnrc6c A T 11: 117,613,345 (GRCm39) Q501L probably damaging Het
Trim17 A G 11: 58,856,369 (GRCm39) Y142C probably damaging Het
Trim65 T C 11: 116,019,108 (GRCm39) R144G probably damaging Het
Trpm1 A G 7: 63,873,547 (GRCm39) T601A probably benign Het
Ttn A T 2: 76,564,688 (GRCm39) V28483E probably damaging Het
Ube2l3 T C 16: 17,019,340 (GRCm39) probably null Het
Ube2l3 G T 16: 17,019,336 (GRCm39) probably benign Het
Yme1l1 T C 2: 23,085,318 (GRCm39) probably benign Het
Zfat A G 15: 68,051,806 (GRCm39) S663P probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably 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
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'- AAAATTCCTTATCATGTCCTGGCAA -3'
(R):5'- TAACAGGTAAATTAGCAGTTGAGAAA -3'

Sequencing Primer
(F):5'- TGTCCTGGCAATAAAGTCCCAGTTAC -3'
(R):5'- CTCATCCTGTGATTGCCA -3'
Posted On 2017-03-31