Incidental Mutation 'R1780:Atp13a2'
ID |
197435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a2
|
Ensembl Gene |
ENSMUSG00000036622 |
Gene Name |
ATPase type 13A2 |
Synonyms |
1110012E06Rik |
MMRRC Submission |
039811-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1780 (G1)
|
Quality Score |
221 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140729771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 663
(L663I)
|
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: L580I
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000039648 Gene: ENSMUSG00000036622 AA Change: L580I
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 |
noncoding transcript
Transcript: ENSMUST00000125797
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127833
AA Change: L580I
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000132183 Gene: ENSMUSG00000036622 AA Change: L580I
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: 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: L663I
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126461 Gene: ENSMUSG00000036622 AA Change: L663I
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 |
0.1795 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.3%
|
Validation Efficiency |
98% (80/82) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl2 |
T |
C |
3: 148,558,229 (GRCm39) |
E493G |
probably damaging |
Het |
Aff3 |
A |
T |
1: 38,574,783 (GRCm39) |
S66T |
probably damaging |
Het |
Ankrd17 |
T |
A |
5: 90,380,274 (GRCm39) |
K2470N |
probably damaging |
Het |
Ap3m1 |
T |
C |
14: 21,091,138 (GRCm39) |
T156A |
probably benign |
Het |
Arhgef4 |
T |
A |
1: 34,763,241 (GRCm39) |
S832R |
possibly damaging |
Het |
Asb10 |
T |
C |
5: 24,738,674 (GRCm39) |
D423G |
possibly damaging |
Het |
Ash1l |
A |
G |
3: 88,873,291 (GRCm39) |
T25A |
probably benign |
Het |
Atp9b |
A |
T |
18: 80,820,112 (GRCm39) |
Y174* |
probably null |
Het |
Bche |
A |
G |
3: 73,607,953 (GRCm39) |
I491T |
probably benign |
Het |
Bckdhb |
T |
C |
9: 83,835,836 (GRCm39) |
|
probably null |
Het |
Cadps2 |
C |
T |
6: 23,320,931 (GRCm39) |
|
probably null |
Het |
Cdc42bpb |
A |
T |
12: 111,289,341 (GRCm39) |
V468E |
probably damaging |
Het |
Chrnd |
T |
C |
1: 87,120,270 (GRCm39) |
V33A |
possibly damaging |
Het |
Col6a5 |
A |
T |
9: 105,814,077 (GRCm39) |
V645D |
unknown |
Het |
Cpa1 |
C |
T |
6: 30,643,007 (GRCm39) |
L312F |
probably damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,541,301 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
C |
A |
19: 39,527,295 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,678,208 (GRCm39) |
N56S |
probably damaging |
Het |
Ddx21 |
A |
G |
10: 62,429,926 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,991,293 (GRCm39) |
C2358S |
probably damaging |
Het |
Entpd8 |
T |
C |
2: 24,974,318 (GRCm39) |
S368P |
probably benign |
Het |
Epg5 |
A |
T |
18: 78,067,205 (GRCm39) |
Q2222L |
probably damaging |
Het |
Ercc5 |
T |
A |
1: 44,206,956 (GRCm39) |
V623E |
probably benign |
Het |
Flg2 |
A |
G |
3: 93,110,306 (GRCm39) |
E778G |
unknown |
Het |
Gbe1 |
C |
T |
16: 70,292,212 (GRCm39) |
R515* |
probably null |
Het |
Hsd17b6 |
A |
G |
10: 127,830,196 (GRCm39) |
|
probably null |
Het |
Hyal6 |
C |
T |
6: 24,734,031 (GRCm39) |
|
probably benign |
Het |
Ifi27l2b |
A |
G |
12: 103,417,578 (GRCm39) |
I203T |
probably damaging |
Het |
Kcnk9 |
A |
C |
15: 72,384,250 (GRCm39) |
D309E |
unknown |
Het |
Lrp6 |
C |
T |
6: 134,441,414 (GRCm39) |
R1184Q |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,700,103 (GRCm39) |
F1399L |
probably damaging |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Mx1 |
T |
C |
16: 97,252,712 (GRCm39) |
*289W |
probably null |
Het |
Myo7b |
T |
C |
18: 32,094,238 (GRCm39) |
E1970G |
probably damaging |
Het |
Mypn |
T |
C |
10: 62,957,743 (GRCm39) |
Y24C |
probably damaging |
Het |
Naxe |
G |
C |
3: 87,964,440 (GRCm39) |
P167A |
probably benign |
Het |
Nmnat2 |
A |
T |
1: 152,988,186 (GRCm39) |
K272* |
probably null |
Het |
Nmnat3 |
C |
T |
9: 98,236,164 (GRCm39) |
T19M |
probably damaging |
Het |
Or4f52 |
T |
C |
2: 111,062,043 (GRCm39) |
I32V |
probably benign |
Het |
Or51b17 |
A |
T |
7: 103,542,762 (GRCm39) |
F60Y |
probably damaging |
Het |
Or51b4 |
A |
G |
7: 103,530,799 (GRCm39) |
V217A |
probably benign |
Het |
Or5b118 |
A |
G |
19: 13,448,726 (GRCm39) |
T131A |
probably benign |
Het |
Or9s27 |
G |
A |
1: 92,516,111 (GRCm39) |
V20M |
probably benign |
Het |
Pgm3 |
T |
G |
9: 86,438,257 (GRCm39) |
E509D |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,851,023 (GRCm39) |
D1110E |
probably damaging |
Het |
Pkd1 |
T |
G |
17: 24,800,543 (GRCm39) |
S3062A |
probably benign |
Het |
Pogz |
A |
T |
3: 94,777,437 (GRCm39) |
K372N |
possibly damaging |
Het |
Pou1f1 |
A |
G |
16: 65,320,356 (GRCm39) |
Y15C |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,732,368 (GRCm39) |
T972A |
possibly damaging |
Het |
Rasip1 |
A |
G |
7: 45,284,742 (GRCm39) |
Y703C |
possibly damaging |
Het |
Recql |
T |
A |
6: 142,310,324 (GRCm39) |
Q502L |
probably benign |
Het |
Rgs9 |
A |
T |
11: 109,130,325 (GRCm39) |
Y383* |
probably null |
Het |
Rimbp3 |
T |
C |
16: 17,030,496 (GRCm39) |
S1307P |
probably benign |
Het |
Rspo1 |
A |
G |
4: 124,901,538 (GRCm39) |
T200A |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,697,637 (GRCm39) |
M922I |
probably damaging |
Het |
Samm50 |
C |
T |
15: 84,095,328 (GRCm39) |
A438V |
probably damaging |
Het |
Sec1 |
A |
C |
7: 45,328,256 (GRCm39) |
S264A |
probably benign |
Het |
Sec31a |
A |
T |
5: 100,529,195 (GRCm39) |
|
probably null |
Het |
Slc13a3 |
T |
C |
2: 165,248,619 (GRCm39) |
N553S |
unknown |
Het |
Smg6 |
T |
A |
11: 74,836,942 (GRCm39) |
L852Q |
probably damaging |
Het |
Spata13 |
A |
G |
14: 60,929,174 (GRCm39) |
N244S |
probably damaging |
Het |
Srbd1 |
T |
C |
17: 86,365,113 (GRCm39) |
R648G |
probably damaging |
Het |
Sugct |
T |
G |
13: 17,627,039 (GRCm39) |
|
probably null |
Het |
Tmed10 |
A |
G |
12: 85,401,653 (GRCm39) |
Y85H |
probably damaging |
Het |
Trim68 |
A |
G |
7: 102,333,280 (GRCm39) |
I134T |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,744,124 (GRCm39) |
C2603R |
possibly damaging |
Het |
Tspyl3 |
G |
A |
2: 153,067,176 (GRCm39) |
R21W |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,641,043 (GRCm39) |
I11863V |
probably null |
Het |
Ubp1 |
G |
A |
9: 113,793,647 (GRCm39) |
A283T |
possibly damaging |
Het |
Ubtf |
A |
T |
11: 102,205,744 (GRCm39) |
F60L |
probably damaging |
Het |
Vmn1r235 |
T |
C |
17: 21,481,999 (GRCm39) |
I108T |
probably benign |
Het |
Vmn2r125 |
T |
C |
4: 156,703,668 (GRCm39) |
S349P |
probably damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,805,424 (GRCm39) |
S478P |
probably damaging |
Het |
Vmn2r88 |
T |
A |
14: 51,656,029 (GRCm39) |
V746D |
probably damaging |
Het |
Zcwpw1 |
A |
G |
5: 137,794,914 (GRCm39) |
K37E |
probably damaging |
Het |
Zdhhc24 |
T |
C |
19: 4,933,794 (GRCm39) |
S284P |
probably damaging |
Het |
Zswim8 |
C |
A |
14: 20,766,395 (GRCm39) |
H841N |
probably damaging |
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 |
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 |
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'- TTGGCCGTAGCCTAAGCTCAGAAC -3'
(R):5'- CCTGAGAAAAGTCGCTGGGTACTG -3'
Sequencing Primer
(F):5'- ctaagctcagaacctgtttcac -3'
(R):5'- TGTGTGCAGCACGAACC -3'
|
Posted On |
2014-05-23 |