Incidental Mutation 'R8313:Atp13a2'
| ID |
641489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a2
|
| Ensembl Gene |
ENSMUSG00000036622 |
| Gene Name |
ATPase type 13A2 |
| Synonyms |
1110012E06Rik |
| MMRRC Submission |
067797-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8313 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140730046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 646
(V646I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037055]
[ENSMUST00000127833]
[ENSMUST00000168047]
|
| AlphaFold |
Q9CTG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037055
AA Change: V646I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: V646I
| 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 benign
Transcript: ENSMUST00000127833
AA Change: V646I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: V646I
| 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 benign
Transcript: ENSMUST00000168047
AA Change: V729I
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: V729I
| 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: 99.0%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Atl2 |
C |
T |
17: 80,160,033 (GRCm39) |
W518* |
probably null |
Het |
| Bcar1 |
A |
T |
8: 112,440,270 (GRCm39) |
F575I |
probably benign |
Het |
| Bpifa6 |
T |
A |
2: 153,831,178 (GRCm39) |
L248* |
probably null |
Het |
| Ccdc38 |
T |
C |
10: 93,399,111 (GRCm39) |
L193P |
probably damaging |
Het |
| Ch25h |
A |
C |
19: 34,452,138 (GRCm39) |
I130S |
probably benign |
Het |
| Chaf1a |
C |
A |
17: 56,351,109 (GRCm39) |
Q30K |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,617,440 (GRCm39) |
L1106S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,550,375 (GRCm39) |
Y3315H |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,214,456 (GRCm39) |
V1074I |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,860,691 (GRCm39) |
Q200R |
probably benign |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,764 (GRCm39) |
D137V |
unknown |
Het |
| Epx |
C |
T |
11: 87,763,557 (GRCm39) |
R221Q |
possibly damaging |
Het |
| Exosc7 |
T |
C |
9: 122,956,942 (GRCm39) |
L109P |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,128,344 (GRCm39) |
F222I |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,785,769 (GRCm39) |
D402G |
probably benign |
Het |
| Foxr1 |
A |
G |
9: 44,347,351 (GRCm39) |
V62A |
probably damaging |
Het |
| Gm8267 |
A |
T |
14: 44,961,515 (GRCm39) |
H59Q |
probably damaging |
Het |
| Gnptab |
T |
A |
10: 88,275,071 (GRCm39) |
Y1090N |
probably damaging |
Het |
| Gpr20 |
A |
G |
15: 73,568,161 (GRCm39) |
F76S |
probably damaging |
Het |
| Gpr33 |
A |
G |
12: 52,070,907 (GRCm39) |
V44A |
probably benign |
Het |
| Grin3a |
G |
A |
4: 49,665,599 (GRCm39) |
T1012I |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,103,120 (GRCm39) |
T1104S |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,054,110 (GRCm39) |
Y537N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,057,515 (GRCm39) |
T530A |
|
Het |
| Lysmd2 |
A |
T |
9: 75,533,040 (GRCm39) |
|
probably benign |
Het |
| Mdk |
T |
C |
2: 91,761,178 (GRCm39) |
K128E |
unknown |
Het |
| Mphosph8 |
AC |
A |
14: 56,916,062 (GRCm39) |
|
probably null |
Het |
| Muc16 |
A |
C |
9: 18,436,443 (GRCm39) |
L7915W |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,753,423 (GRCm38) |
T1100S |
probably benign |
Het |
| Mxra7 |
T |
C |
11: 116,695,376 (GRCm39) |
Y176C |
probably damaging |
Het |
| Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 113,023,045 (GRCm39) |
S116P |
unknown |
Het |
| Noc3l |
A |
G |
19: 38,784,254 (GRCm39) |
L543P |
probably damaging |
Het |
| Or5h24 |
C |
T |
16: 58,919,004 (GRCm39) |
G117D |
unknown |
Het |
| Or7a39 |
C |
T |
10: 78,715,170 (GRCm39) |
P55S |
probably benign |
Het |
| Or8c10 |
T |
A |
9: 38,279,346 (GRCm39) |
V168E |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,575,902 (GRCm39) |
R106L |
probably benign |
Het |
| Prkab2 |
G |
T |
3: 97,570,911 (GRCm39) |
V112F |
probably benign |
Het |
| Prkaca |
A |
T |
8: 84,717,151 (GRCm39) |
N172Y |
probably damaging |
Het |
| Prmt8 |
A |
G |
6: 127,666,813 (GRCm39) |
V387A |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,761,074 (GRCm39) |
T485A |
probably benign |
Het |
| Rita1 |
G |
T |
5: 120,747,716 (GRCm39) |
T194K |
possibly damaging |
Het |
| Rogdi |
C |
A |
16: 4,831,313 (GRCm39) |
|
probably benign |
Het |
| Senp5 |
T |
C |
16: 31,808,117 (GRCm39) |
D379G |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,194,122 (GRCm39) |
K201E |
possibly damaging |
Het |
| Slc9a4 |
C |
T |
1: 40,619,520 (GRCm39) |
|
probably benign |
Het |
| Tmem175 |
T |
A |
5: 108,791,075 (GRCm39) |
S208R |
probably benign |
Het |
| Tmem237 |
A |
T |
1: 59,147,237 (GRCm39) |
Y299N |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,769,936 (GRCm39) |
N575K |
possibly damaging |
Het |
| Trak2 |
A |
T |
1: 58,960,306 (GRCm39) |
C232* |
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,775,478 (GRCm39) |
H589R |
probably damaging |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r208 |
G |
C |
13: 22,956,947 (GRCm39) |
I183M |
probably benign |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,289 (GRCm39) |
V209I |
probably benign |
Het |
| Vmn1r80 |
T |
C |
7: 11,926,994 (GRCm39) |
F35L |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,521,952 (GRCm39) |
I48N |
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,231,898 (GRCm39) |
V231E |
probably damaging |
Het |
| Zfp108 |
A |
C |
7: 23,960,087 (GRCm39) |
Y226S |
possibly damaging |
Het |
| Zfp445 |
A |
T |
9: 122,682,695 (GRCm39) |
N415K |
possibly damaging |
Het |
| Zfp938 |
T |
G |
10: 82,061,422 (GRCm39) |
R399S |
possibly damaging |
Het |
| Zmym4 |
G |
A |
4: 126,804,762 (GRCm39) |
H464Y |
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 |
|
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 |
|
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'- GTCTTGGTGGTAATGAGACCCC -3'
(R):5'- GAAAAGTCGCTGGGTACTGTGG -3'
Sequencing Primer
(F):5'- GTGGTAATGAGACCCCCACCC -3'
(R):5'- TACTGTGGAGGGAGAGAGGTATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation