Incidental Mutation 'R7178:Atp13a2'
| ID |
558753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a2
|
| Ensembl Gene |
ENSMUSG00000036622 |
| Gene Name |
ATPase type 13A2 |
| Synonyms |
1110012E06Rik |
| MMRRC Submission |
045232-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7178 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140726462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 350
(T350A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037055]
[ENSMUST00000127833]
[ENSMUST00000168047]
|
| AlphaFold |
Q9CTG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037055
AA Change: T350A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: T350A
| 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 |
probably damaging
Transcript: ENSMUST00000127833
AA Change: T350A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: T350A
| 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 |
probably damaging
Transcript: ENSMUST00000168047
AA Change: T433A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: T433A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (75/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
A |
G |
9: 54,535,745 (GRCm39) |
I130T |
possibly damaging |
Het |
| Adam24 |
T |
A |
8: 41,133,039 (GRCm39) |
L169* |
probably null |
Het |
| Als2 |
A |
T |
1: 59,246,971 (GRCm39) |
I556N |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,688,599 (GRCm39) |
N212K |
|
Het |
| Anpep |
T |
C |
7: 79,490,736 (GRCm39) |
D260G |
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,884,581 (GRCm39) |
|
probably null |
Het |
| Atad2 |
C |
T |
15: 57,980,689 (GRCm39) |
R383Q |
probably damaging |
Het |
| Atp11b |
T |
A |
3: 35,874,099 (GRCm39) |
M696K |
probably benign |
Het |
| Atp8b2 |
T |
C |
3: 89,850,979 (GRCm39) |
D29G |
possibly damaging |
Het |
| Baz2a |
C |
T |
10: 127,960,326 (GRCm39) |
R1514W |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,815,375 (GRCm39) |
L631* |
probably null |
Het |
| Cimip2a |
G |
A |
2: 25,110,252 (GRCm39) |
V55I |
probably damaging |
Het |
| Clec4a3 |
T |
C |
6: 122,941,251 (GRCm39) |
I82T |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,454,170 (GRCm39) |
I2648F |
|
Het |
| Cul5 |
A |
G |
9: 53,555,826 (GRCm39) |
F247L |
probably benign |
Het |
| Dnajc24 |
A |
T |
2: 105,800,807 (GRCm39) |
M101K |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,344,200 (GRCm39) |
V1848E |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,321,932 (GRCm39) |
T14A |
probably benign |
Het |
| Gm7298 |
T |
G |
6: 121,762,855 (GRCm39) |
I1392S |
probably damaging |
Het |
| Gm9955 |
A |
T |
18: 24,842,220 (GRCm39) |
S62R |
unknown |
Het |
| Gtsf1 |
T |
G |
15: 103,328,388 (GRCm39) |
N130T |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,971,925 (GRCm39) |
S755I |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,685 (GRCm39) |
T279A |
possibly damaging |
Het |
| Hvcn1 |
T |
C |
5: 122,371,573 (GRCm39) |
W38R |
probably damaging |
Het |
| Hyal6 |
A |
G |
6: 24,734,834 (GRCm39) |
S256G |
probably benign |
Het |
| Insyn2b |
G |
T |
11: 34,352,359 (GRCm39) |
V134F |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,761,081 (GRCm39) |
S546P |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,465,499 (GRCm39) |
V1317A |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,395,085 (GRCm39) |
V730A |
probably benign |
Het |
| L3mbtl2 |
T |
C |
15: 81,555,275 (GRCm39) |
V176A |
probably benign |
Het |
| Lgi1 |
T |
C |
19: 38,294,733 (GRCm39) |
Y502H |
probably damaging |
Het |
| Liph |
T |
A |
16: 21,795,078 (GRCm39) |
D178V |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
| Mak16 |
A |
C |
8: 31,656,602 (GRCm39) |
S42A |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,458,977 (GRCm39) |
I269V |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,728 (GRCm39) |
M812K |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,788 (GRCm38) |
S889T |
unknown |
Het |
| Npy6r |
A |
G |
18: 44,409,551 (GRCm39) |
N324S |
probably damaging |
Het |
| Ntrk3 |
T |
G |
7: 78,005,895 (GRCm39) |
T489P |
possibly damaging |
Het |
| Or52a5b |
G |
A |
7: 103,417,182 (GRCm39) |
Q141* |
probably null |
Het |
| Or5h19 |
T |
A |
16: 58,856,296 (GRCm39) |
D268V |
probably benign |
Het |
| Or5t17 |
G |
A |
2: 86,832,879 (GRCm39) |
V189I |
probably benign |
Het |
| Otof |
G |
C |
5: 30,540,878 (GRCm39) |
T887S |
possibly damaging |
Het |
| Papola |
T |
C |
12: 105,773,443 (GRCm39) |
V154A |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,622,946 (GRCm39) |
H1421R |
probably benign |
Het |
| Plpp5 |
T |
C |
8: 26,210,606 (GRCm39) |
S66P |
probably benign |
Het |
| Ppp6r3 |
T |
A |
19: 3,568,337 (GRCm39) |
I154L |
probably benign |
Het |
| Prr18 |
A |
C |
17: 8,560,741 (GRCm39) |
D299A |
possibly damaging |
Het |
| Psmb1 |
G |
A |
17: 15,697,521 (GRCm39) |
S198F |
possibly damaging |
Het |
| Qars1 |
T |
C |
9: 108,392,322 (GRCm39) |
V723A |
possibly damaging |
Het |
| Rab6a |
A |
T |
7: 100,285,959 (GRCm39) |
R185* |
probably null |
Het |
| Scn2a |
C |
T |
2: 65,579,197 (GRCm39) |
Q1511* |
probably null |
Het |
| Serpinb3d |
T |
A |
1: 107,008,506 (GRCm39) |
I120F |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,455 (GRCm39) |
T175A |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,058,440 (GRCm39) |
T1226A |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,317,259 (GRCm39) |
I427V |
possibly damaging |
Het |
| Slc2a2 |
C |
T |
3: 28,773,631 (GRCm39) |
A312V |
possibly damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spcs1 |
G |
A |
14: 30,722,438 (GRCm39) |
S127F |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,399,027 (GRCm39) |
V2158A |
possibly damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,117,481 (GRCm39) |
I423F |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,076,754 (GRCm39) |
I930N |
possibly damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,623 (GRCm39) |
D45V |
probably damaging |
Het |
| Tcf3 |
C |
A |
10: 80,257,433 (GRCm39) |
V11F |
unknown |
Het |
| Tead1 |
A |
T |
7: 112,441,144 (GRCm39) |
Q91L |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,916,249 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
C |
T |
6: 72,593,028 (GRCm39) |
G151S |
probably benign |
Het |
| Tnfrsf11a |
C |
A |
1: 105,755,264 (GRCm39) |
N445K |
probably benign |
Het |
| Ttn |
G |
C |
2: 76,540,514 (GRCm39) |
F34157L |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,424 (GRCm39) |
P697Q |
probably damaging |
Het |
| Zeb2 |
G |
A |
2: 44,887,006 (GRCm39) |
L684F |
probably damaging |
Het |
| Zfp661 |
T |
C |
2: 127,419,456 (GRCm39) |
D228G |
probably benign |
Het |
| Zfp738 |
T |
C |
13: 67,821,147 (GRCm39) |
K77E |
probably damaging |
Het |
| Zkscan1 |
T |
A |
5: 138,099,192 (GRCm39) |
D378E |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,993,924 (GRCm39) |
D744V |
possibly 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 |
|
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 |
|
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'- CTACCCAAAGCAGGTTCCTAG -3'
(R):5'- GATCATGTACGTGCTGAGCTC -3'
Sequencing Primer
(F):5'- CAGGTTCCTAGGAGCAGGTG -3'
(R):5'- GAGCTCAGCACTCCTCCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation