Incidental Mutation 'IGL01476:Atp13a2'
| ID |
88462 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp13a2
|
| Ensembl Gene |
ENSMUSG00000036622 |
| Gene Name |
ATPase type 13A2 |
| Synonyms |
1110012E06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140728081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 558
(C558Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037055]
[ENSMUST00000127833]
[ENSMUST00000168047]
|
| AlphaFold |
Q9CTG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037055
AA Change: C475Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: C475Y
| 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 damaging
Transcript: ENSMUST00000127833
AA Change: C475Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: C475Y
| 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 |
probably damaging
Transcript: ENSMUST00000168047
AA Change: C558Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: C558Y
| 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
|
| Coding Region Coverage |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Abcc10 |
A |
G |
17: 46,638,863 (GRCm39) |
|
probably benign |
Het |
| Btbd1 |
G |
A |
7: 81,450,797 (GRCm39) |
R328* |
probably null |
Het |
| Cdk8 |
A |
G |
5: 146,231,973 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
T |
14: 52,442,947 (GRCm39) |
N534K |
probably benign |
Het |
| Cybc1 |
T |
C |
11: 121,116,671 (GRCm39) |
Y86C |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,828,301 (GRCm39) |
R570* |
probably null |
Het |
| Eri2 |
A |
C |
7: 119,389,472 (GRCm39) |
F149V |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,347,363 (GRCm39) |
M1054T |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,259,217 (GRCm39) |
V84A |
probably damaging |
Het |
| Got1 |
A |
C |
19: 43,512,848 (GRCm39) |
V16G |
probably damaging |
Het |
| Itga9 |
C |
T |
9: 118,436,179 (GRCm39) |
R62C |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,828,067 (GRCm39) |
R1232G |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,135,688 (GRCm39) |
Y1930C |
probably damaging |
Het |
| Or1e25 |
T |
C |
11: 73,494,056 (GRCm39) |
S217P |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or2ag2b |
G |
A |
7: 106,417,827 (GRCm39) |
C179Y |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,571,122 (GRCm39) |
K169R |
probably damaging |
Het |
| Rnf169 |
A |
C |
7: 99,604,691 (GRCm39) |
Y174D |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,381,637 (GRCm39) |
E282G |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,599,783 (GRCm39) |
S840P |
possibly damaging |
Het |
| Skor2 |
A |
T |
18: 76,946,362 (GRCm39) |
Q28L |
unknown |
Het |
| Slc35f2 |
T |
C |
9: 53,713,990 (GRCm39) |
V168A |
possibly damaging |
Het |
| Slc6a7 |
A |
T |
18: 61,138,845 (GRCm39) |
L221Q |
probably damaging |
Het |
| Spata31e5 |
A |
T |
1: 28,816,534 (GRCm39) |
H499Q |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,574,696 (GRCm39) |
V307E |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,850,693 (GRCm39) |
L110S |
probably benign |
Het |
| Thnsl1 |
T |
A |
2: 21,216,970 (GRCm39) |
D241E |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tpbpb |
A |
T |
13: 61,049,948 (GRCm39) |
D60E |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,865,170 (GRCm39) |
I168V |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Wscd2 |
A |
G |
5: 113,710,382 (GRCm39) |
D302G |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation