Incidental Mutation 'IGL01410:Atp13a2'
| ID |
79944 |
| 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 # |
IGL01410
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140719509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 26
(D26G)
|
| 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: D26G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: D26G
| 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: D26G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: D26G
| 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: ENSMUST00000151517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156995
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168047
AA Change: D26G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: D26G
| 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 |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
A |
1: 58,145,184 (GRCm39) |
|
probably null |
Het |
| Aspm |
C |
T |
1: 139,410,182 (GRCm39) |
T1359I |
probably benign |
Het |
| Atrnl1 |
G |
A |
19: 58,119,536 (GRCm39) |
A1343T |
probably damaging |
Het |
| Ccsap |
A |
C |
8: 124,585,969 (GRCm39) |
S61A |
probably damaging |
Het |
| Cdh1 |
A |
T |
8: 107,384,485 (GRCm39) |
M318L |
probably benign |
Het |
| Cfap69 |
G |
A |
5: 5,696,979 (GRCm39) |
P106S |
probably damaging |
Het |
| Cfp |
G |
A |
X: 20,795,963 (GRCm39) |
T88I |
probably damaging |
Het |
| Chst1 |
A |
T |
2: 92,444,475 (GRCm39) |
I316F |
probably damaging |
Het |
| Col7a1 |
A |
T |
9: 108,793,686 (GRCm39) |
D1382V |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,845,542 (GRCm39) |
M514L |
possibly damaging |
Het |
| Cubn |
G |
A |
2: 13,470,719 (GRCm39) |
H558Y |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,839,572 (GRCm39) |
M802K |
probably damaging |
Het |
| Dennd2d |
A |
T |
3: 106,398,542 (GRCm39) |
I169L |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,010,991 (GRCm39) |
K162* |
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,566,943 (GRCm39) |
T2428S |
possibly damaging |
Het |
| Dock11 |
T |
A |
X: 35,301,296 (GRCm39) |
H1284Q |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,745,966 (GRCm39) |
D101E |
probably damaging |
Het |
| Gabrr2 |
G |
A |
4: 33,085,626 (GRCm39) |
V349M |
probably damaging |
Het |
| Gli2 |
C |
A |
1: 118,764,621 (GRCm39) |
V1177L |
probably benign |
Het |
| Gm16506 |
A |
G |
14: 43,961,630 (GRCm39) |
Y206H |
probably benign |
Het |
| Gm5612 |
C |
T |
9: 18,338,869 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
C |
T |
7: 106,202,258 (GRCm39) |
|
noncoding transcript |
Het |
| Heg1 |
C |
T |
16: 33,545,936 (GRCm39) |
T460I |
possibly damaging |
Het |
| Lgals9 |
T |
G |
11: 78,863,977 (GRCm39) |
D56A |
probably damaging |
Het |
| Lpgat1 |
A |
T |
1: 191,508,544 (GRCm39) |
|
probably null |
Het |
| Megf6 |
T |
A |
4: 154,337,020 (GRCm39) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,059,296 (GRCm39) |
M2265I |
probably benign |
Het |
| Memo1 |
G |
A |
17: 74,548,976 (GRCm39) |
R121* |
probably null |
Het |
| Morc1 |
T |
C |
16: 48,432,677 (GRCm39) |
V715A |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,466,928 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
A |
12: 116,388,270 (GRCm39) |
V318D |
possibly damaging |
Het |
| Ndst1 |
T |
C |
18: 60,833,517 (GRCm39) |
Y498C |
probably damaging |
Het |
| Nod1 |
C |
T |
6: 54,921,341 (GRCm39) |
A326T |
probably damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,706 (GRCm39) |
V145A |
probably benign |
Het |
| Or4c11 |
T |
A |
2: 88,695,864 (GRCm39) |
M305K |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,710,624 (GRCm39) |
S1533G |
probably benign |
Het |
| Pgc |
G |
T |
17: 48,045,165 (GRCm39) |
G361V |
probably damaging |
Het |
| Phka1 |
C |
T |
X: 101,629,712 (GRCm39) |
R477H |
probably damaging |
Het |
| Plagl2 |
C |
T |
2: 153,074,574 (GRCm39) |
R109Q |
probably damaging |
Het |
| Prr36 |
T |
A |
8: 4,266,230 (GRCm39) |
I107F |
probably benign |
Het |
| Ptpdc1 |
T |
A |
13: 48,740,080 (GRCm39) |
R450S |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,138,179 (GRCm39) |
D361V |
possibly damaging |
Het |
| Rbm44 |
A |
G |
1: 91,096,551 (GRCm39) |
D970G |
probably benign |
Het |
| Scrn2 |
T |
G |
11: 96,921,396 (GRCm39) |
V52G |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 142,197,875 (GRCm39) |
T2176I |
probably benign |
Het |
| Serpina1d |
T |
A |
12: 103,729,993 (GRCm39) |
E396D |
probably benign |
Het |
| Slc38a5 |
A |
C |
X: 8,146,070 (GRCm39) |
Q465P |
probably benign |
Het |
| Slc38a5 |
G |
T |
X: 8,146,071 (GRCm39) |
Q465H |
probably benign |
Het |
| Smarca1 |
T |
C |
X: 46,981,255 (GRCm39) |
T48A |
possibly damaging |
Het |
| Trak2 |
A |
T |
1: 58,962,766 (GRCm39) |
I132N |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,117 (GRCm39) |
T714A |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,194,327 (GRCm39) |
S784P |
probably benign |
Het |
| Trp53i13 |
G |
A |
11: 77,399,083 (GRCm39) |
|
probably benign |
Het |
| Trrap |
A |
C |
5: 144,767,831 (GRCm39) |
D2596A |
probably benign |
Het |
| Ttyh1 |
A |
T |
7: 4,127,656 (GRCm39) |
T19S |
probably damaging |
Het |
| Tyk2 |
C |
T |
9: 21,020,660 (GRCm39) |
V947M |
probably damaging |
Het |
| Ugt2b34 |
G |
A |
5: 87,040,689 (GRCm39) |
A411V |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,518,929 (GRCm39) |
Y725* |
probably null |
Het |
| Vmn1r192 |
A |
G |
13: 22,372,079 (GRCm39) |
L47P |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,500 (GRCm39) |
D64G |
possibly damaging |
Het |
|
| Other mutations in Atp13a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation