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)
|
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
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 |
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
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 |
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
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: ENSMUST00000156995
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170797
|
Meta Mutation Damage Score |
0.0898 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |