Incidental Mutation 'R9142:Atp13a2'
ID 694379
Institutional Source Beutler Lab
Gene Symbol Atp13a2
Ensembl Gene ENSMUSG00000036622
Gene Name ATPase type 13A2
Synonyms 1110012E06Rik
MMRRC Submission 068934-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9142 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 140714184-140734641 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140729364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 566 (D566G)
Ref Sequence ENSEMBL: ENSMUSP00000039648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037055] [ENSMUST00000127833] [ENSMUST00000168047]
AlphaFold Q9CTG6
Predicted Effect probably damaging
Transcript: ENSMUST00000037055
AA Change: D566G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: D566G

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: D566G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: D566G

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 probably damaging
Transcript: ENSMUST00000168047
AA Change: D649G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: D649G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (64/64)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs C A 4: 126,215,360 (GRCm39) G35V probably damaging Het
Apob A C 12: 8,062,705 (GRCm39) D3729A possibly damaging Het
App G A 16: 84,900,127 (GRCm39) H108Y probably damaging Het
Arap3 G A 18: 38,112,934 (GRCm39) A1092V possibly damaging Het
Arid3a T C 10: 79,787,612 (GRCm39) S550P unknown Het
Armc2 T G 10: 41,851,404 (GRCm39) E259D probably benign Het
Bnc2 A G 4: 84,474,111 (GRCm39) C12R probably benign Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cc2d2b C T 19: 40,753,845 (GRCm39) R123* probably null Het
Cdc37l1 T A 19: 28,989,402 (GRCm39) H286Q possibly damaging Het
Cfap54 A T 10: 92,820,097 (GRCm39) L1239Q possibly damaging Het
Cfap58 T C 19: 47,974,993 (GRCm39) probably null Het
Col6a3 A T 1: 90,706,566 (GRCm39) D2789E unknown Het
Ctnna2 G T 6: 76,879,423 (GRCm39) probably benign Het
Dazl A G 17: 50,590,178 (GRCm39) V271A probably benign Het
Dennd4c A T 4: 86,755,637 (GRCm39) N1610Y probably benign Het
Dusp13b T A 14: 21,792,756 (GRCm39) K56N probably benign Het
Erbb2 T A 11: 98,312,884 (GRCm39) I149N probably damaging Het
Erbb4 A T 1: 68,388,552 (GRCm39) C217S probably damaging Het
Fbxw21 A G 9: 108,985,413 (GRCm39) C122R probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Foxm1 T A 6: 128,344,298 (GRCm39) I182N probably damaging Het
Ggnbp2 T C 11: 84,730,886 (GRCm39) N381S possibly damaging Het
Gja3 T C 14: 57,274,048 (GRCm39) E108G probably benign Het
Gm40460 C A 7: 141,794,499 (GRCm39) G106V unknown Het
Gm9736 A G 10: 77,586,849 (GRCm39) C114R unknown Het
Gpbp1 A T 13: 111,563,033 (GRCm39) D492E unknown Het
Gper1 T C 5: 139,412,312 (GRCm39) V219A possibly damaging Het
Gtf2e1 C T 16: 37,356,364 (GRCm39) R56Q probably benign Het
H2ac10 T C 13: 23,718,151 (GRCm39) L24P probably damaging Het
Ide T C 19: 37,307,898 (GRCm39) N38S Het
Kat6a T A 8: 23,430,072 (GRCm39) M1809K unknown Het
Kdm2b A T 5: 123,127,112 (GRCm39) probably benign Het
Kif7 A T 7: 79,356,585 (GRCm39) M702K probably benign Het
Lrrtm4 T A 6: 79,999,426 (GRCm39) N279K probably damaging Het
Mcrip1 G A 11: 120,435,542 (GRCm39) P31L probably damaging Het
Mettl25b A G 3: 87,831,195 (GRCm39) I444T probably benign Het
Nf1 T A 11: 79,362,315 (GRCm39) S1497R probably damaging Het
Nf1 T A 11: 79,366,688 (GRCm39) I1607N probably damaging Het
Nrde2 G T 12: 100,117,518 (GRCm39) T47K probably benign Het
Or5w12 C T 2: 87,502,313 (GRCm39) V133I probably benign Het
Or6b2b T G 1: 92,419,411 (GRCm39) E22A probably benign Het
Or6c1 T C 10: 129,518,285 (GRCm39) T108A probably benign Het
Ppargc1a G A 5: 51,652,146 (GRCm39) T184I possibly damaging Het
Ppp1r15a T C 7: 45,173,920 (GRCm39) D296G probably damaging Het
Prl7c1 C T 13: 27,964,751 (GRCm39) probably benign Het
Prss42 G T 9: 110,628,228 (GRCm39) R124L possibly damaging Het
Psmd1 T G 1: 86,064,817 (GRCm39) Y950D probably damaging Het
Ptprr A T 10: 116,024,119 (GRCm39) L250F possibly damaging Het
Rabgef1 T A 5: 130,237,554 (GRCm39) M208K possibly damaging Het
Rps6ka2 A G 17: 7,437,793 (GRCm39) Y17C probably damaging Het
Scart2 T A 7: 139,877,806 (GRCm39) D929E probably damaging Het
Sec23ip T A 7: 128,363,226 (GRCm39) C463S probably damaging Het
Serpina3n A G 12: 104,379,710 (GRCm39) T368A probably damaging Het
Sez6l C T 5: 112,609,083 (GRCm39) A589T probably benign Het
Smok2b G A 17: 13,453,637 (GRCm39) probably null Het
Spag5 T A 11: 78,192,823 (GRCm39) Y52N possibly damaging Het
Tenm3 G A 8: 48,788,548 (GRCm39) S494L unknown Het
Top3b T C 16: 16,701,299 (GRCm39) Y204H probably damaging Het
Trim43b C T 9: 88,973,452 (GRCm39) V94M possibly damaging Het
Trps1 T G 15: 50,524,658 (GRCm39) I1091L probably damaging Het
Ttk G A 9: 83,725,741 (GRCm39) R221Q probably damaging Het
Ttn A C 2: 76,549,466 (GRCm39) M31737R probably damaging Het
Uso1 T A 5: 92,335,125 (GRCm39) L495* probably null Het
Usp19 A G 9: 108,372,284 (GRCm39) D447G possibly damaging Het
Zdhhc2 A G 8: 40,920,563 (GRCm39) E274G probably damaging Het
Zfp106 T A 2: 120,350,935 (GRCm39) Y1595F probably damaging Het
Zfp932 A T 5: 110,157,520 (GRCm39) H406L probably damaging 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
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
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'- CCAACTCAGCCAAGGACTTG -3'
(R):5'- AACAGGTTCTGAGCTTAGGC -3'

Sequencing Primer
(F):5'- ACTGTCCCCTTGCAGACAG -3'
(R):5'- CTACGGCCAAGGTAATAGTGAC -3'
Posted On 2022-01-20