Incidental Mutation 'R1295:Atp13a2'
ID |
158054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a2
|
Ensembl Gene |
ENSMUSG00000036622 |
Gene Name |
ATPase type 13A2 |
Synonyms |
1110012E06Rik |
MMRRC Submission |
039361-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1295 (G1)
|
Quality Score |
95 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140721113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 99
(S99P)
|
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: S99P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000039648 Gene: ENSMUSG00000036622 AA Change: S99P
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: S99P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000132183 Gene: ENSMUSG00000036622 AA Change: S99P
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 damaging
Transcript: ENSMUST00000168047
AA Change: S99P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126461 Gene: ENSMUSG00000036622 AA Change: S99P
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 |
0.7440 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.1%
- 20x: 82.0%
|
Validation Efficiency |
98% (81/83) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
A |
G |
9: 121,737,783 (GRCm39) |
S53G |
possibly damaging |
Het |
Adgrb1 |
T |
A |
15: 74,421,888 (GRCm39) |
L886Q |
probably damaging |
Het |
Adprhl1 |
G |
A |
8: 13,298,624 (GRCm39) |
T102M |
probably damaging |
Het |
Akap6 |
A |
C |
12: 52,933,812 (GRCm39) |
K435Q |
probably damaging |
Het |
Aldh7a1 |
T |
C |
18: 56,680,022 (GRCm39) |
|
probably null |
Het |
Amfr |
T |
C |
8: 94,701,432 (GRCm39) |
R507G |
probably benign |
Het |
Ap1m1 |
T |
A |
8: 73,005,719 (GRCm39) |
|
probably null |
Het |
Arhgap29 |
A |
G |
3: 121,786,044 (GRCm39) |
H275R |
probably benign |
Het |
Arhgef17 |
C |
A |
7: 100,530,476 (GRCm39) |
E428* |
probably null |
Het |
Atm |
A |
T |
9: 53,367,830 (GRCm39) |
V2431E |
probably damaging |
Het |
Atn1 |
G |
T |
6: 124,724,750 (GRCm39) |
P161Q |
unknown |
Het |
Ccar1 |
C |
A |
10: 62,619,661 (GRCm39) |
|
probably null |
Het |
Cdk18 |
T |
C |
1: 132,047,698 (GRCm39) |
|
probably benign |
Het |
Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,719,714 (GRCm39) |
F215S |
unknown |
Het |
Decr1 |
T |
C |
4: 15,919,207 (GRCm39) |
N312S |
possibly damaging |
Het |
Diaph3 |
A |
T |
14: 87,244,835 (GRCm39) |
W178R |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,075,752 (GRCm39) |
|
probably benign |
Het |
Ehd3 |
C |
A |
17: 74,135,181 (GRCm39) |
D352E |
probably damaging |
Het |
Enpp6 |
T |
G |
8: 47,518,535 (GRCm39) |
I221S |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,837,670 (GRCm39) |
|
probably benign |
Het |
Gm5435 |
G |
T |
12: 82,542,558 (GRCm39) |
|
noncoding transcript |
Het |
Gpr22 |
A |
C |
12: 31,759,513 (GRCm39) |
I203S |
probably benign |
Het |
Gpr61 |
A |
G |
3: 108,057,797 (GRCm39) |
V288A |
possibly damaging |
Het |
Grik3 |
G |
A |
4: 125,598,357 (GRCm39) |
|
probably benign |
Het |
Gstcd |
T |
C |
3: 132,711,389 (GRCm39) |
N431D |
probably damaging |
Het |
H1f5 |
T |
C |
13: 21,964,169 (GRCm39) |
S186G |
probably benign |
Het |
Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
Ift140 |
G |
T |
17: 25,307,907 (GRCm39) |
|
probably null |
Het |
Ikbke |
A |
G |
1: 131,197,963 (GRCm39) |
V381A |
probably benign |
Het |
Ing1 |
A |
C |
8: 11,611,501 (GRCm39) |
I38L |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,611,502 (GRCm39) |
I38N |
probably damaging |
Het |
Itga4 |
A |
G |
2: 79,153,033 (GRCm39) |
M907V |
possibly damaging |
Het |
Kcnk12 |
C |
T |
17: 88,053,801 (GRCm39) |
G287D |
probably damaging |
Het |
Kmt2e |
A |
C |
5: 23,707,402 (GRCm39) |
H1655P |
probably damaging |
Het |
Mbtd1 |
A |
G |
11: 93,801,185 (GRCm39) |
Y122C |
probably damaging |
Het |
Mif-ps9 |
T |
A |
19: 56,743,766 (GRCm39) |
|
noncoding transcript |
Het |
Mslnl |
T |
C |
17: 25,962,214 (GRCm39) |
L204P |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
Nav3 |
T |
A |
10: 109,527,963 (GRCm39) |
D2240V |
probably damaging |
Het |
Ndufaf3 |
T |
C |
9: 108,443,892 (GRCm39) |
T9A |
probably damaging |
Het |
Numb |
C |
A |
12: 83,842,935 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
T |
C |
7: 30,193,514 (GRCm39) |
V79A |
probably damaging |
Het |
Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
Rmnd5a |
G |
A |
6: 71,375,439 (GRCm39) |
L80F |
probably benign |
Het |
Rnf19a |
G |
T |
15: 36,244,247 (GRCm39) |
Y604* |
probably null |
Het |
Ros1 |
T |
A |
10: 51,964,028 (GRCm39) |
E1744V |
possibly damaging |
Het |
Rpusd2 |
T |
C |
2: 118,867,408 (GRCm39) |
F219L |
probably benign |
Het |
Sall2 |
T |
C |
14: 52,551,182 (GRCm39) |
N671S |
probably damaging |
Het |
Sele |
T |
A |
1: 163,878,379 (GRCm39) |
S239R |
probably damaging |
Het |
Serpina3b |
T |
C |
12: 104,097,138 (GRCm39) |
F140L |
probably damaging |
Het |
Stxbp1 |
A |
T |
2: 32,684,648 (GRCm39) |
S594T |
probably benign |
Het |
Sufu |
G |
A |
19: 46,443,159 (GRCm39) |
|
probably benign |
Het |
Tbx2 |
A |
G |
11: 85,725,592 (GRCm39) |
E181G |
probably damaging |
Het |
Thumpd2 |
A |
G |
17: 81,363,317 (GRCm39) |
V50A |
probably damaging |
Het |
Tlcd4 |
A |
G |
3: 121,000,940 (GRCm39) |
V231A |
probably benign |
Het |
Ttn |
C |
A |
2: 76,573,589 (GRCm39) |
R17441L |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,334,477 (GRCm39) |
Y1157C |
probably damaging |
Het |
Vmn1r9 |
T |
C |
6: 57,048,522 (GRCm39) |
V199A |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,445,694 (GRCm39) |
F677S |
probably damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,225,008 (GRCm39) |
A501T |
probably benign |
Het |
Wapl |
C |
T |
14: 34,446,726 (GRCm39) |
P605S |
probably damaging |
Het |
Zfp598 |
A |
G |
17: 24,898,623 (GRCm39) |
N474S |
probably benign |
Het |
Zfyve26 |
A |
G |
12: 79,321,694 (GRCm39) |
L975P |
probably damaging |
Het |
Zp3r |
C |
T |
1: 130,519,181 (GRCm39) |
G255D |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCAGGCAGAGATCCATAGAGCAAC -3'
(R):5'- ATGTGACCTGGATGCCCAGAGAAG -3'
Sequencing Primer
(F):5'- GCAACACACCTGGAGTCTG -3'
(R):5'- CAAGACGAGGTCTAGAGCCC -3'
|
Posted On |
2014-02-18 |