Incidental Mutation 'R5066:Atp13a2'
ID 388318
Institutional Source Beutler Lab
Gene Symbol Atp13a2
Ensembl Gene ENSMUSG00000036622
Gene Name ATPase type 13A2
Synonyms 1110012E06Rik
MMRRC Submission 042656-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5066 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 140714184-140734641 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140732449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 905 (V905M)
Ref Sequence ENSEMBL: ENSMUSP00000132183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037055] [ENSMUST00000127833] [ENSMUST00000168047]
AlphaFold Q9CTG6
Predicted Effect probably damaging
Transcript: ENSMUST00000037055
AA Change: V905M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: V905M

DomainStartEndE-ValueType
Pfam:P5-ATPase 31 171 8.9e-27 PFAM
Cation_ATPase_N 179 251 9.78e-1 SMART
Pfam:E1-E2_ATPase 256 497 3.6e-39 PFAM
Pfam:Hydrolase 502 785 2e-14 PFAM
Pfam:HAD 505 876 3.6e-27 PFAM
transmembrane domain 920 942 N/A INTRINSIC
transmembrane domain 957 979 N/A INTRINSIC
transmembrane domain 991 1013 N/A INTRINSIC
transmembrane domain 1033 1055 N/A INTRINSIC
transmembrane domain 1068 1090 N/A INTRINSIC
transmembrane domain 1105 1127 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000127833
AA Change: V905M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: V905M

DomainStartEndE-ValueType
Pfam:P5-ATPase 31 164 7.4e-29 PFAM
Cation_ATPase_N 179 251 9.78e-1 SMART
Pfam:E1-E2_ATPase 256 496 6e-34 PFAM
Pfam:HAD 505 876 4e-27 PFAM
Pfam:Hydrolase 663 879 2.5e-15 PFAM
transmembrane domain 925 947 N/A INTRINSIC
transmembrane domain 954 976 N/A INTRINSIC
transmembrane domain 991 1013 N/A INTRINSIC
low complexity region 1102 1115 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170797
Predicted Effect probably benign
Transcript: ENSMUST00000168047
SMART Domains Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622

DomainStartEndE-ValueType
Pfam:P5-ATPase 31 156 1e-27 PFAM
Cation_ATPase_N 262 334 9.78e-1 SMART
Pfam:E1-E2_ATPase 339 579 4.8e-34 PFAM
Pfam:HAD 588 959 3e-27 PFAM
Pfam:Hydrolase 726 962 1.8e-15 PFAM
Meta Mutation Damage Score 0.1577 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik A T 11: 70,507,417 (GRCm39) Y154F probably benign Het
Abca5 A T 11: 110,200,176 (GRCm39) probably benign Het
Agtpbp1 T A 13: 59,622,364 (GRCm39) D11V probably damaging Het
Aldh1a2 G A 9: 71,188,982 (GRCm39) A299T possibly damaging Het
Apc T A 18: 34,449,158 (GRCm39) V1984D probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Atp1a1 C T 3: 101,489,420 (GRCm39) G731R probably damaging Het
Atrn T C 2: 130,836,113 (GRCm39) V1131A possibly damaging Het
Bcl2l13 T A 6: 120,863,982 (GRCm39) V312E possibly damaging Het
Chic2 A G 5: 75,187,817 (GRCm39) V81A possibly damaging Het
Drg1 A T 11: 3,209,353 (GRCm39) I122N possibly damaging Het
Efcab3 A G 11: 104,611,490 (GRCm39) D444G probably benign Het
Flt4 A G 11: 49,524,990 (GRCm39) N612S possibly damaging Het
Hadhb T C 5: 30,369,094 (GRCm39) probably benign Het
Heg1 G T 16: 33,559,041 (GRCm39) R856S probably benign Het
Ice2 A C 9: 69,315,573 (GRCm39) N143T probably benign Het
Igkv8-21 G A 6: 70,292,427 (GRCm39) Q4* probably null Het
Lrfn2 T C 17: 49,403,448 (GRCm39) S524P probably damaging Het
Mndal C A 1: 173,703,229 (GRCm39) A59S probably damaging Het
Mpp7 T C 18: 7,513,002 (GRCm39) E33G possibly damaging Het
Msantd5l A G 11: 51,145,251 (GRCm39) F112S probably damaging Het
Nedd4 T A 9: 72,617,801 (GRCm39) D187E probably damaging Het
Nfx1 A G 4: 40,991,868 (GRCm39) I519V probably benign Het
Or10p22 G A 10: 128,826,660 (GRCm39) R293Q probably damaging Het
Or6c204 T C 10: 129,022,433 (GRCm39) I286V possibly damaging Het
Padi1 T C 4: 140,556,748 (GRCm39) N153S probably damaging Het
Parp10 A G 15: 76,125,146 (GRCm39) probably benign Het
Setbp1 A T 18: 78,900,514 (GRCm39) M1051K probably damaging Het
Slc2a7 T A 4: 150,244,573 (GRCm39) M347K probably damaging Het
Slc45a2 C A 15: 11,012,693 (GRCm39) T232K probably benign Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Spata13 T C 14: 60,987,538 (GRCm39) Y899H possibly damaging Het
Sult1c2 T A 17: 54,281,026 (GRCm39) I26F probably damaging Het
Sybu A G 15: 44,541,040 (GRCm39) C341R probably damaging Het
Syk T A 13: 52,796,018 (GRCm39) S538T possibly damaging Het
Syne2 A G 12: 76,013,325 (GRCm39) T2840A probably benign Het
Thsd4 A G 9: 59,883,615 (GRCm39) C924R probably damaging Het
Tle1 A G 4: 72,076,504 (GRCm39) S175P probably benign Het
Tmbim4 C T 10: 120,053,537 (GRCm39) T112M probably benign Het
Tmprss11a A G 5: 86,567,859 (GRCm39) probably null Het
Tnc C A 4: 63,893,466 (GRCm39) D1698Y probably damaging Het
Ypel1 A G 16: 16,927,539 (GRCm39) Y18H probably benign Het
Other mutations in Atp13a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Atp13a2 APN 4 140,719,509 (GRCm39) missense probably benign 0.02
IGL01476:Atp13a2 APN 4 140,728,081 (GRCm39) missense probably damaging 1.00
IGL01980:Atp13a2 APN 4 140,733,463 (GRCm39) missense probably benign 0.00
IGL02257:Atp13a2 APN 4 140,733,400 (GRCm39) missense probably benign 0.00
IGL02589:Atp13a2 APN 4 140,733,722 (GRCm39) missense probably damaging 1.00
IGL02936:Atp13a2 APN 4 140,729,260 (GRCm39) missense probably benign 0.00
IGL03032:Atp13a2 APN 4 140,727,666 (GRCm39) missense possibly damaging 0.95
IGL03040:Atp13a2 APN 4 140,733,484 (GRCm39) missense probably damaging 1.00
IGL03271:Atp13a2 APN 4 140,727,708 (GRCm39) missense possibly damaging 0.69
calla UTSW 4 140,721,643 (GRCm39) nonsense probably null
eastern_moon UTSW 4 140,732,327 (GRCm39) missense probably damaging 0.99
yucca_brevifolia UTSW 4 140,721,113 (GRCm39) missense probably damaging 1.00
IGL03054:Atp13a2 UTSW 4 140,734,279 (GRCm39) missense possibly damaging 0.83
PIT4469001:Atp13a2 UTSW 4 140,721,438 (GRCm39) missense unknown
R0634:Atp13a2 UTSW 4 140,734,240 (GRCm39) unclassified probably benign
R0881:Atp13a2 UTSW 4 140,731,242 (GRCm39) missense probably damaging 1.00
R1295:Atp13a2 UTSW 4 140,721,113 (GRCm39) missense probably damaging 1.00
R1296:Atp13a2 UTSW 4 140,721,113 (GRCm39) missense probably damaging 1.00
R1472:Atp13a2 UTSW 4 140,721,113 (GRCm39) missense probably damaging 1.00
R1780:Atp13a2 UTSW 4 140,729,771 (GRCm39) missense possibly damaging 0.73
R1837:Atp13a2 UTSW 4 140,721,643 (GRCm39) nonsense probably null
R1838:Atp13a2 UTSW 4 140,721,643 (GRCm39) nonsense probably null
R1856:Atp13a2 UTSW 4 140,731,323 (GRCm39) missense probably benign 0.43
R1918:Atp13a2 UTSW 4 140,723,682 (GRCm39) missense possibly damaging 0.90
R1956:Atp13a2 UTSW 4 140,731,572 (GRCm39) missense possibly damaging 0.92
R2126:Atp13a2 UTSW 4 140,722,702 (GRCm39) missense possibly damaging 0.94
R2130:Atp13a2 UTSW 4 140,732,327 (GRCm39) missense probably damaging 0.99
R2132:Atp13a2 UTSW 4 140,732,327 (GRCm39) missense probably damaging 0.99
R2133:Atp13a2 UTSW 4 140,732,327 (GRCm39) missense probably damaging 0.99
R2397:Atp13a2 UTSW 4 140,730,466 (GRCm39) missense probably benign 0.00
R2873:Atp13a2 UTSW 4 140,730,294 (GRCm39) missense probably benign 0.00
R3025:Atp13a2 UTSW 4 140,721,659 (GRCm39) missense probably damaging 1.00
R3939:Atp13a2 UTSW 4 140,733,733 (GRCm39) missense probably damaging 0.98
R3940:Atp13a2 UTSW 4 140,733,733 (GRCm39) missense probably damaging 0.98
R3942:Atp13a2 UTSW 4 140,733,733 (GRCm39) missense probably damaging 0.98
R4247:Atp13a2 UTSW 4 140,719,539 (GRCm39) critical splice donor site probably null
R4357:Atp13a2 UTSW 4 140,729,215 (GRCm39) missense probably benign 0.01
R4406:Atp13a2 UTSW 4 140,733,787 (GRCm39) missense probably damaging 1.00
R4686:Atp13a2 UTSW 4 140,730,587 (GRCm39) critical splice donor site probably null
R5033:Atp13a2 UTSW 4 140,728,132 (GRCm39) missense possibly damaging 0.91
R5278:Atp13a2 UTSW 4 140,728,129 (GRCm39) missense probably damaging 0.97
R5464:Atp13a2 UTSW 4 140,733,381 (GRCm39) missense probably damaging 1.00
R5522:Atp13a2 UTSW 4 140,731,671 (GRCm39) splice site probably null
R5614:Atp13a2 UTSW 4 140,719,493 (GRCm39) missense probably benign 0.35
R5846:Atp13a2 UTSW 4 140,722,907 (GRCm39) missense possibly damaging 0.81
R6378:Atp13a2 UTSW 4 140,734,367 (GRCm39) missense probably benign 0.34
R6512:Atp13a2 UTSW 4 140,730,529 (GRCm39) missense probably damaging 1.00
R6518:Atp13a2 UTSW 4 140,728,165 (GRCm39) missense possibly damaging 0.89
R6519:Atp13a2 UTSW 4 140,728,165 (GRCm39) missense possibly damaging 0.89
R7166:Atp13a2 UTSW 4 140,734,295 (GRCm39) missense possibly damaging 0.89
R7178:Atp13a2 UTSW 4 140,726,462 (GRCm39) missense probably damaging 1.00
R7657:Atp13a2 UTSW 4 140,719,815 (GRCm39) missense possibly damaging 0.92
R8256:Atp13a2 UTSW 4 140,722,922 (GRCm39) missense possibly damaging 0.94
R8313:Atp13a2 UTSW 4 140,730,046 (GRCm39) missense probably benign
R8318:Atp13a2 UTSW 4 140,734,335 (GRCm39) missense probably benign 0.14
R8781:Atp13a2 UTSW 4 140,723,691 (GRCm39) missense probably benign 0.36
R9142:Atp13a2 UTSW 4 140,729,364 (GRCm39) missense probably damaging 1.00
R9145:Atp13a2 UTSW 4 140,724,056 (GRCm39) missense probably damaging 0.99
R9158:Atp13a2 UTSW 4 140,724,112 (GRCm39) critical splice donor site probably null
R9256:Atp13a2 UTSW 4 140,730,038 (GRCm39) missense probably damaging 0.98
R9339:Atp13a2 UTSW 4 140,730,571 (GRCm39) missense probably benign 0.00
Z1176:Atp13a2 UTSW 4 140,732,428 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATAGTCTGTGGAGGCTCAGG -3'
(R):5'- TCACTGTGTAGAGAATGAGCACAG -3'

Sequencing Primer
(F):5'- GCTCAGGCCATACCCACTCTC -3'
(R):5'- GCTGTAGAGGGCCATGTAC -3'
Posted On 2016-06-06