Incidental Mutation 'R5278:Atp13a2'
| ID |
404035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a2
|
| Ensembl Gene |
ENSMUSG00000036622 |
| Gene Name |
ATPase type 13A2 |
| Synonyms |
1110012E06Rik |
| MMRRC Submission |
042865-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5278 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140728129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 574
(I574N)
|
| 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: I491N
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: I491N
| 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: I491N
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: I491N
| 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 |
noncoding transcript
Transcript: ENSMUST00000170797
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168047
AA Change: I574N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: I574N
| 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 |
|
| Meta Mutation Damage Score |
0.4464 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
C |
T |
5: 35,745,500 (GRCm39) |
|
probably benign |
Het |
| Acvr2b |
G |
A |
9: 119,261,555 (GRCm39) |
V383I |
probably damaging |
Het |
| Akap12 |
T |
C |
10: 4,304,792 (GRCm39) |
M534T |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,052,888 (GRCm39) |
E26K |
probably benign |
Het |
| Alcam |
A |
G |
16: 52,094,638 (GRCm39) |
I371T |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,552,203 (GRCm39) |
T794A |
probably benign |
Het |
| Apeh |
G |
A |
9: 107,968,457 (GRCm39) |
P349S |
probably benign |
Het |
| Asb7 |
G |
T |
7: 66,328,933 (GRCm39) |
Q36K |
possibly damaging |
Het |
| Asl |
A |
G |
5: 130,047,672 (GRCm39) |
|
probably null |
Het |
| Bcl2l2 |
T |
A |
14: 55,122,251 (GRCm39) |
I138N |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 30,074,881 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
C |
T |
7: 16,012,306 (GRCm39) |
W1* |
probably null |
Het |
| Cdh18 |
T |
A |
15: 23,474,244 (GRCm39) |
S705T |
probably benign |
Het |
| Ces5a |
A |
T |
8: 94,252,266 (GRCm39) |
W209R |
probably damaging |
Het |
| Chpf2 |
T |
A |
5: 24,793,088 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
A |
17: 46,821,799 (GRCm39) |
H1892L |
probably damaging |
Het |
| Cxcl13 |
A |
G |
5: 96,106,586 (GRCm39) |
T53A |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,505,309 (GRCm39) |
Y385F |
possibly damaging |
Het |
| Ddx46 |
A |
G |
13: 55,823,851 (GRCm39) |
E915G |
probably damaging |
Het |
| Elovl3 |
G |
A |
19: 46,122,540 (GRCm39) |
V113I |
probably benign |
Het |
| Fam53c |
A |
T |
18: 34,895,671 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,384,752 (GRCm39) |
F349L |
probably benign |
Het |
| Fuz |
C |
T |
7: 44,545,701 (GRCm39) |
P9L |
probably benign |
Het |
| Igf1r |
C |
T |
7: 67,843,166 (GRCm39) |
T759M |
possibly damaging |
Het |
| Impg2 |
G |
A |
16: 56,041,880 (GRCm39) |
D175N |
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,543,444 (GRCm39) |
R43L |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,919,077 (GRCm39) |
E816G |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,803,641 (GRCm39) |
D262E |
probably damaging |
Het |
| Mrpl48 |
A |
G |
7: 100,201,790 (GRCm39) |
V156A |
probably damaging |
Het |
| Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,225,390 (GRCm39) |
I252V |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,021,134 (GRCm39) |
W449R |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,655 (GRCm39) |
L221P |
probably damaging |
Het |
| Or2l5 |
A |
T |
16: 19,334,128 (GRCm39) |
L86* |
probably null |
Het |
| Pank4 |
T |
C |
4: 155,056,622 (GRCm39) |
L351P |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,609,973 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC |
CCATCAGGATGCACATCAGGATCC |
6: 4,756,442 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
T |
A |
7: 120,522,184 (GRCm39) |
I10K |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,532,838 (GRCm39) |
I1489T |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
A |
G |
11: 32,331,447 (GRCm39) |
D57G |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,622,612 (GRCm39) |
|
probably null |
Het |
| Slc15a4 |
A |
T |
5: 127,694,033 (GRCm39) |
V134E |
probably damaging |
Het |
| Slc49a4 |
A |
G |
16: 35,518,358 (GRCm39) |
S452P |
probably damaging |
Het |
| Stxbp5l |
G |
T |
16: 37,007,016 (GRCm39) |
Q726K |
probably benign |
Het |
| Tesk2 |
T |
G |
4: 116,663,133 (GRCm39) |
|
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,639 (GRCm39) |
S264P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,704,209 (GRCm39) |
Q1003R |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,739,868 (GRCm39) |
R628H |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,991 (GRCm39) |
H198Y |
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 |
|
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'- TAGGCACCGTCTACAGCATC -3'
(R):5'- ATCTGCCAGGCATGAGACAG -3'
Sequencing Primer
(F):5'- CAACCGGGTAAGCTGGAGC -3'
(R):5'- CCAGGCATGAGACAGAGTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation