Incidental Mutation 'R5033:Atp13a2'
ID 389349
Institutional Source Beutler Lab
Gene Symbol Atp13a2
Ensembl Gene ENSMUSG00000036622
Gene Name ATPase type 13A2
Synonyms 1110012E06Rik
MMRRC Submission 042624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5033 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 140714184-140734641 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140728132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 575 (H575R)
Ref Sequence ENSEMBL: ENSMUSP00000126461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037055] [ENSMUST00000127833] [ENSMUST00000168047]
AlphaFold Q9CTG6
Predicted Effect possibly damaging
Transcript: ENSMUST00000037055
AA Change: H492R

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: H492R

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 possibly damaging
Transcript: ENSMUST00000127833
AA Change: H492R

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: H492R

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 possibly damaging
Transcript: ENSMUST00000168047
AA Change: H575R

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: H575R

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: ENSMUST00000170797
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
9930111J21Rik1 G A 11: 48,838,533 (GRCm39) R685W probably damaging Het
Arhgap10 A T 8: 78,109,386 (GRCm39) L399H probably damaging Het
Arih2 AGCCG AG 9: 108,488,859 (GRCm39) probably benign Het
Bbof1 G A 12: 84,458,044 (GRCm39) probably null Het
Bltp3a A G 17: 28,105,838 (GRCm39) E788G probably damaging Het
Catsperg2 A C 7: 29,409,559 (GRCm39) Y545D possibly damaging Het
Cdc42bpa T A 1: 179,892,580 (GRCm39) I248N probably damaging Het
Cdk11b A T 4: 155,733,282 (GRCm39) probably benign Het
Cfap46 C A 7: 139,183,776 (GRCm39) L90F probably benign Het
Cndp2 A G 18: 84,688,954 (GRCm39) L276P possibly damaging Het
Col3a1 A C 1: 45,385,270 (GRCm39) D129A probably damaging Het
Daam1 C A 12: 71,993,294 (GRCm39) H354Q unknown Het
Dnah5 T A 15: 28,421,824 (GRCm39) F3892Y probably damaging Het
Dnajb3 A G 1: 88,132,745 (GRCm39) V219A possibly damaging Het
Drd5 A G 5: 38,477,544 (GRCm39) H179R probably damaging Het
Dym A G 18: 75,252,232 (GRCm39) N333D possibly damaging Het
Eif2b3 A G 4: 116,909,933 (GRCm39) D156G probably damaging Het
Emc1 A G 4: 139,099,007 (GRCm39) D830G probably damaging Het
F13a1 A C 13: 37,172,830 (GRCm39) I183M probably damaging Het
Fam136b-ps T A 15: 31,277,043 (GRCm39) probably benign Het
Fdft1 C A 14: 63,400,853 (GRCm39) K93N probably damaging Het
Garre1 C T 7: 33,945,237 (GRCm39) G336S probably benign Het
Gcc2 A G 10: 58,114,628 (GRCm39) D959G probably damaging Het
Gp2 A G 7: 119,053,514 (GRCm39) V149A probably damaging Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Hdac9 A T 12: 34,423,906 (GRCm39) C587S probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Iars2 A G 1: 185,050,125 (GRCm39) V453A possibly damaging Het
Il1r1 T G 1: 40,332,684 (GRCm39) C121W probably damaging Het
Inhca A G 9: 103,156,613 (GRCm39) V149A probably benign Het
Jazf1 A G 6: 52,754,525 (GRCm39) Y184H probably damaging Het
Kel A T 6: 41,675,989 (GRCm39) Y234N probably damaging Het
Khk G A 5: 31,087,004 (GRCm39) G186D probably damaging Het
Klf4 A T 4: 55,530,301 (GRCm39) M270K probably benign Het
Kmt2c G A 5: 25,519,706 (GRCm39) L2135F probably benign Het
Krtap15-1 A G 16: 88,626,044 (GRCm39) Y37C probably damaging Het
Lars1 A G 18: 42,347,841 (GRCm39) F994S possibly damaging Het
Ldc1 C T 4: 130,115,408 (GRCm39) probably null Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lrrc2 A T 9: 110,809,987 (GRCm39) D341V probably damaging Het
Map4k4 A G 1: 40,046,662 (GRCm39) K646R probably damaging Het
Mrps9 T A 1: 42,934,491 (GRCm39) probably null Het
Or10ag60 T A 2: 87,438,055 (GRCm39) C108S probably damaging Het
Or11h6 T A 14: 50,880,619 (GRCm39) Y288N probably damaging Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pcnt A T 10: 76,235,779 (GRCm39) C1401S possibly damaging Het
Pdgfrb A T 18: 61,210,740 (GRCm39) K749M probably damaging Het
Pigo A T 4: 43,019,412 (GRCm39) W969R probably null Het
Pigr A T 1: 130,772,436 (GRCm39) Y218F probably damaging Het
Pih1d1 A G 7: 44,804,278 (GRCm39) probably benign Het
Pik3cg A T 12: 32,249,195 (GRCm39) probably null Het
Pik3r6 A T 11: 68,424,294 (GRCm39) K300* probably null Het
Pip5k1c A G 10: 81,141,084 (GRCm39) D64G probably damaging Het
Piwil2 A T 14: 70,659,042 (GRCm39) I161K possibly damaging Het
Pou3f1 A G 4: 124,552,449 (GRCm39) E317G probably damaging Het
Prdm8 C T 5: 98,333,071 (GRCm39) Q213* probably null Het
Prpf6 T A 2: 181,291,899 (GRCm39) C739S possibly damaging Het
Psmc3 T A 2: 90,884,953 (GRCm39) S40T probably benign Het
Psmd3 A T 11: 98,573,650 (GRCm39) D32V probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rapgef6 A T 11: 54,582,207 (GRCm39) H1373L possibly damaging Het
Rnf207 A C 4: 152,397,666 (GRCm39) S328A probably benign Het
Ros1 C T 10: 52,004,512 (GRCm39) probably null Het
Ryr2 T A 13: 11,602,140 (GRCm39) I4581F possibly damaging Het
Sacm1l C T 9: 123,415,464 (GRCm39) R480W probably damaging Het
Sec16a A G 2: 26,309,661 (GRCm39) V664A probably benign Het
Selenoo T A 15: 88,976,969 (GRCm39) M207K probably damaging Het
Sh3tc2 G A 18: 62,147,962 (GRCm39) probably null Het
Slc28a2b T A 2: 122,353,395 (GRCm39) probably null Het
Slco2b1 G T 7: 99,309,256 (GRCm39) Q692K probably benign Het
Slfn4 A T 11: 83,077,623 (GRCm39) D137V probably damaging Het
Srrm2 G A 17: 24,039,592 (GRCm39) A2175T probably damaging Het
Stard9 T A 2: 120,523,880 (GRCm39) C692S probably benign Het
Sulf2 T A 2: 165,923,542 (GRCm39) D559V probably benign Het
Tbpl2 T C 2: 23,977,170 (GRCm39) I283V probably benign Het
Tmem19 A G 10: 115,195,666 (GRCm39) F46S probably benign Het
Trp63 T A 16: 25,582,056 (GRCm39) Y35N probably damaging Het
Ttn T A 2: 76,716,786 (GRCm39) probably benign Het
Ube2z A T 11: 95,941,148 (GRCm39) H331Q probably benign Het
Ubr1 C T 2: 120,742,478 (GRCm39) probably null Het
Vmn1r235 A T 17: 21,482,550 (GRCm39) I292F possibly damaging Het
Vmn2r1 T A 3: 64,012,501 (GRCm39) D787E probably damaging Het
Vmn2r3 A G 3: 64,167,220 (GRCm39) V637A probably benign Het
Xpnpep1 C A 19: 52,994,606 (GRCm39) V341L probably benign Het
Yme1l1 A G 2: 23,084,759 (GRCm39) D619G probably damaging Het
Zfp597 G A 16: 3,684,502 (GRCm39) P85S probably damaging Het
Zscan20 A G 4: 128,479,921 (GRCm39) S857P 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
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'- GCACCGTCTACAGCATCATC -3'
(R):5'- TATCTGCCAGGCATGAGACAG -3'

Sequencing Primer
(F):5'- CAACCGGGTAAGCTGGAGC -3'
(R):5'- CCAGGCATGAGACAGAGTGG -3'
Posted On 2016-06-06