Incidental Mutation 'R6378:Atp13a2'
ID |
515109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a2
|
Ensembl Gene |
ENSMUSG00000036622 |
Gene Name |
ATPase type 13A2 |
Synonyms |
1110012E06Rik |
MMRRC Submission |
044528-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6378 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140734367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1163
(L1163Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037055]
[ENSMUST00000071977]
[ENSMUST00000127833]
[ENSMUST00000166376]
[ENSMUST00000168047]
|
AlphaFold |
Q9CTG6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037055
AA Change: L1163Q
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000039648 Gene: ENSMUSG00000036622 AA Change: L1163Q
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000071977
|
SMART Domains |
Protein: ENSMUSP00000071868 Gene: ENSMUSG00000060572
Domain | Start | End | E-Value | Type |
Pfam:MAGP
|
3 |
153 |
1.2e-62 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127833
|
SMART Domains |
Protein: ENSMUSP00000132183 Gene: ENSMUSG00000036622
Domain | Start | End | E-Value | Type |
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: ENSMUST00000137630
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151517
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166376
|
SMART Domains |
Protein: ENSMUSP00000132711 Gene: ENSMUSG00000060572
Domain | Start | End | E-Value | Type |
Pfam:MAGP
|
2 |
153 |
2e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168047
|
SMART Domains |
Protein: ENSMUSP00000126461 Gene: ENSMUSG00000036622
Domain | Start | End | E-Value | Type |
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
|
Meta Mutation Damage Score |
0.1100 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
99% (80/81) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
A |
T |
15: 72,995,774 (GRCm39) |
D408E |
probably benign |
Het |
Agpat2 |
T |
C |
2: 26,486,147 (GRCm39) |
N178S |
probably benign |
Het |
Arsi |
T |
C |
18: 61,049,573 (GRCm39) |
F152S |
probably damaging |
Het |
Bpifb2 |
T |
A |
2: 153,733,072 (GRCm39) |
L385Q |
possibly damaging |
Het |
C330018D20Rik |
A |
G |
18: 57,095,579 (GRCm39) |
L2P |
probably damaging |
Het |
Cby3 |
A |
G |
11: 50,250,360 (GRCm39) |
T189A |
probably damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,921,561 (GRCm39) |
D567V |
possibly damaging |
Het |
Cdh5 |
T |
A |
8: 104,853,168 (GRCm39) |
|
probably null |
Het |
Cela1 |
C |
T |
15: 100,585,071 (GRCm39) |
V20I |
probably benign |
Het |
Cmpk2 |
G |
A |
12: 26,519,415 (GRCm39) |
G22E |
possibly damaging |
Het |
Ctcf |
T |
A |
8: 106,390,423 (GRCm39) |
V10E |
possibly damaging |
Het |
Dpp10 |
C |
A |
1: 123,339,468 (GRCm39) |
C353F |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,999,620 (GRCm39) |
S5546G |
possibly damaging |
Het |
Elp3 |
G |
T |
14: 65,830,420 (GRCm39) |
Y10* |
probably null |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,755,646 (GRCm39) |
W336R |
probably damaging |
Het |
Erich6 |
T |
C |
3: 58,529,780 (GRCm39) |
|
probably null |
Het |
Eya1 |
T |
C |
1: 14,373,027 (GRCm39) |
N31D |
possibly damaging |
Het |
Fam81a |
T |
A |
9: 70,017,628 (GRCm39) |
N106Y |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,694,639 (GRCm39) |
T487A |
possibly damaging |
Het |
Ganc |
T |
C |
2: 120,264,307 (GRCm39) |
M420T |
probably damaging |
Het |
Gimap7 |
A |
T |
6: 48,701,116 (GRCm39) |
E234V |
probably damaging |
Het |
Gpbp1 |
T |
C |
13: 111,570,146 (GRCm39) |
N400S |
probably damaging |
Het |
Gucy2g |
T |
C |
19: 55,229,377 (GRCm39) |
S98G |
probably benign |
Het |
Hoxd10 |
T |
C |
2: 74,524,678 (GRCm39) |
I330T |
possibly damaging |
Het |
Ik |
T |
A |
18: 36,890,341 (GRCm39) |
I539N |
probably damaging |
Het |
Il17rb |
G |
A |
14: 29,722,320 (GRCm39) |
T237I |
probably damaging |
Het |
Ing2 |
T |
A |
8: 48,122,293 (GRCm39) |
Q85L |
probably benign |
Het |
Lrp4 |
C |
A |
2: 91,324,174 (GRCm39) |
N1208K |
probably benign |
Het |
Lvrn |
T |
A |
18: 47,028,024 (GRCm39) |
S888R |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,488 (GRCm39) |
V1126A |
probably damaging |
Het |
Mapkapk5 |
A |
G |
5: 121,677,233 (GRCm39) |
|
probably null |
Het |
Mis18bp1 |
T |
C |
12: 65,196,021 (GRCm39) |
D581G |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,599,320 (GRCm39) |
V3289A |
probably benign |
Het |
Myom2 |
T |
A |
8: 15,149,356 (GRCm39) |
I609N |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,382,433 (GRCm39) |
M1343K |
probably damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,486,207 (GRCm39) |
I302V |
probably damaging |
Het |
Neb |
T |
A |
2: 52,183,733 (GRCm39) |
K978N |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,820,831 (GRCm39) |
E878G |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,097,016 (GRCm39) |
I928N |
probably damaging |
Het |
Nxf1 |
T |
A |
19: 8,741,910 (GRCm39) |
D145E |
probably benign |
Het |
Obox3 |
T |
A |
7: 15,360,027 (GRCm39) |
H214L |
probably benign |
Het |
Obscn |
T |
C |
11: 58,964,572 (GRCm39) |
E3199G |
probably damaging |
Het |
Ogfod3 |
T |
C |
11: 121,093,761 (GRCm39) |
E83G |
probably benign |
Het |
Or11a4 |
T |
A |
17: 37,536,688 (GRCm39) |
V224E |
probably benign |
Het |
Or2r3 |
T |
G |
6: 42,448,687 (GRCm39) |
M142L |
probably benign |
Het |
Or6b2 |
A |
G |
1: 92,408,178 (GRCm39) |
L55P |
probably damaging |
Het |
Or8s8 |
T |
C |
15: 98,354,425 (GRCm39) |
V78A |
probably benign |
Het |
Pcsk4 |
G |
T |
10: 80,164,809 (GRCm39) |
H69N |
probably benign |
Het |
Plcl2 |
C |
T |
17: 50,975,188 (GRCm39) |
|
probably null |
Het |
Pmfbp1 |
T |
C |
8: 110,256,898 (GRCm39) |
I534T |
probably damaging |
Het |
Prss23 |
A |
T |
7: 89,159,241 (GRCm39) |
I276N |
probably damaging |
Het |
Ramac |
A |
G |
7: 81,417,387 (GRCm39) |
Y29C |
probably damaging |
Het |
Rhd |
T |
A |
4: 134,621,696 (GRCm39) |
F403Y |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Scg5 |
A |
G |
2: 113,657,737 (GRCm39) |
V58A |
possibly damaging |
Het |
Scn5a |
C |
T |
9: 119,315,102 (GRCm39) |
G1868R |
probably damaging |
Het |
Secisbp2l |
A |
G |
2: 125,610,245 (GRCm39) |
S225P |
possibly damaging |
Het |
Sema4f |
A |
T |
6: 82,894,613 (GRCm39) |
L486* |
probably null |
Het |
Slc25a47 |
G |
A |
12: 108,822,069 (GRCm39) |
R286H |
probably damaging |
Het |
Slc5a8 |
A |
C |
10: 88,740,916 (GRCm39) |
K277T |
probably damaging |
Het |
Slc66a3 |
T |
C |
12: 17,047,644 (GRCm39) |
Y96C |
probably damaging |
Het |
Sorcs1 |
T |
A |
19: 50,213,615 (GRCm39) |
E704V |
possibly damaging |
Het |
Sptan1 |
T |
C |
2: 29,908,527 (GRCm39) |
S1768P |
probably damaging |
Het |
Srd5a2 |
C |
T |
17: 74,328,378 (GRCm39) |
|
probably null |
Het |
Sytl2 |
A |
T |
7: 90,007,432 (GRCm39) |
K65* |
probably null |
Het |
Tas2r109 |
T |
G |
6: 132,957,844 (GRCm39) |
I29L |
probably benign |
Het |
Tfap2a |
A |
T |
13: 40,876,717 (GRCm39) |
V234E |
possibly damaging |
Het |
Tgfbr3 |
G |
A |
5: 107,325,679 (GRCm39) |
L128F |
probably benign |
Het |
Trappc12 |
A |
T |
12: 28,797,082 (GRCm39) |
L150Q |
probably damaging |
Het |
Trim43b |
T |
A |
9: 88,967,452 (GRCm39) |
I395L |
probably benign |
Het |
U2surp |
C |
T |
9: 95,373,474 (GRCm39) |
E232K |
probably benign |
Het |
Vax1 |
T |
C |
19: 59,154,656 (GRCm39) |
N327S |
probably benign |
Het |
Vmn1r14 |
T |
C |
6: 57,210,587 (GRCm39) |
V11A |
probably benign |
Het |
Vmn1r60 |
A |
G |
7: 5,547,782 (GRCm39) |
V106A |
probably damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,498,667 (GRCm39) |
S415G |
probably benign |
Het |
Vmn2r3 |
C |
T |
3: 64,182,517 (GRCm39) |
G394D |
probably damaging |
Het |
Ybx2 |
A |
G |
11: 69,831,179 (GRCm39) |
E63G |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,308,410 (GRCm39) |
N545K |
probably benign |
Het |
Zp1 |
T |
C |
19: 10,892,217 (GRCm39) |
T56A |
probably benign |
Het |
|
Other mutations in Atp13a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- CCTTTATGCTGGAGGTAGGC -3'
(R):5'- TGGTCTAAAGTGAGACAGCAGTC -3'
Sequencing Primer
(F):5'- CTGGAGGTAGGCAGGGACC -3'
(R):5'- TCAGCACTTCCCCAGGAGAG -3'
|
Posted On |
2018-05-04 |