Incidental Mutation 'R2873:Atp13a2'
ID 260392
Institutional Source Beutler Lab
Gene Symbol Atp13a2
Ensembl Gene ENSMUSG00000036622
Gene Name ATPase type 13A2
Synonyms 1110012E06Rik
MMRRC Submission 040461-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2873 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 140714184-140734641 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140730294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 773 (I773T)
Ref Sequence ENSEMBL: ENSMUSP00000126461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037055] [ENSMUST00000127833] [ENSMUST00000168047]
AlphaFold Q9CTG6
Predicted Effect probably benign
Transcript: ENSMUST00000037055
AA Change: I690T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: I690T

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 noncoding transcript
Transcript: ENSMUST00000125797
Predicted Effect probably benign
Transcript: ENSMUST00000127833
AA Change: I690T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: I690T

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 probably benign
Transcript: ENSMUST00000168047
AA Change: I773T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: I773T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170797
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (81/81)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,846,002 (GRCm39) C811R possibly damaging Het
Acvr1 G A 2: 58,367,808 (GRCm39) Q118* probably null Het
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Ankrd40 T C 11: 94,224,771 (GRCm39) V60A possibly damaging Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp12a A G 14: 56,624,407 (GRCm39) R952G possibly damaging Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
Ccdc162 G T 10: 41,531,095 (GRCm39) T537N possibly damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cd101 A T 3: 100,911,164 (GRCm39) D831E probably benign Het
Ch25h T A 19: 34,452,210 (GRCm39) H106L probably benign Het
Chek2 C A 5: 111,011,202 (GRCm39) Y333* probably null Het
Cimap1d G A 10: 79,481,487 (GRCm39) T14I probably benign Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Flnc A G 6: 29,447,542 (GRCm39) D1115G probably damaging Het
Ftdc1 A T 16: 58,434,342 (GRCm39) I125K probably benign Het
Gbp11 C T 5: 105,478,866 (GRCm39) D191N probably benign Het
Gm5519 A C 19: 33,802,410 (GRCm39) D151A possibly damaging Het
Grid2ip C A 5: 143,343,684 (GRCm39) Q127K probably benign Het
Hdhd2 T C 18: 77,042,702 (GRCm39) F44L probably damaging Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Kpna7 T C 5: 144,930,745 (GRCm39) T367A probably benign Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mdm1 A G 10: 117,986,847 (GRCm39) T267A probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Ndufs1 A G 1: 63,203,882 (GRCm39) probably benign Het
Nlrp4b C T 7: 10,444,170 (GRCm39) Q40* probably null Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notch1 A G 2: 26,350,247 (GRCm39) C2298R possibly damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Or10g1 T G 14: 52,648,318 (GRCm39) T4P probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Pms2 G A 5: 143,848,732 (GRCm39) probably benign Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Ptger4 T C 15: 5,264,286 (GRCm39) R457G probably benign Het
Pzp A T 6: 128,462,519 (GRCm39) probably null Het
Ralgds A G 2: 28,438,781 (GRCm39) probably null Het
Rnf6 T C 5: 146,147,215 (GRCm39) Y601C probably benign Het
Sgk2 A G 2: 162,836,449 (GRCm39) probably benign Het
Shoc1 A C 4: 59,093,850 (GRCm39) L226R probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Slc4a4 G T 5: 89,283,623 (GRCm39) V481L probably damaging Het
Slc5a8 A G 10: 88,740,825 (GRCm39) I247V probably benign Het
Slit3 G T 11: 35,435,620 (GRCm39) E184* probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
St7 C T 6: 17,819,276 (GRCm39) P60L probably damaging Het
Tafa2 A T 10: 123,540,270 (GRCm39) H42L possibly damaging Het
Tbc1d8 A G 1: 39,444,398 (GRCm39) F187S probably damaging Het
Tet2 C T 3: 133,192,715 (GRCm39) G573E probably damaging Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Trpa1 A G 1: 14,957,844 (GRCm39) C705R probably damaging Het
Usp9y T A Y: 1,310,502 (GRCm39) probably benign Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Ybx3 G A 6: 131,347,376 (GRCm39) A253V probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D 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
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
R5066:Atp13a2 UTSW 4 140,732,449 (GRCm39) missense probably damaging 1.00
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'- ATGTGGTAGTGACATGGCCAG -3'
(R):5'- CCCTAGAGAATTAGCATCTCCGG -3'

Sequencing Primer
(F):5'- CTGAGGCCTACGTCAAAGG -3'
(R):5'- AATTAGCATCTCCGGGTCAG -3'
Posted On 2015-01-23