Incidental Mutation 'R9142:Atp13a2'
ID |
694379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a2
|
Ensembl Gene |
ENSMUSG00000036622 |
Gene Name |
ATPase type 13A2 |
Synonyms |
1110012E06Rik |
MMRRC Submission |
068934-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9142 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 140729364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 566
(D566G)
|
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: D566G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039648 Gene: ENSMUSG00000036622 AA Change: D566G
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: D566G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132183 Gene: ENSMUSG00000036622 AA Change: D566G
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: D649G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126461 Gene: ENSMUSG00000036622 AA Change: D649G
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (64/64) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprs |
C |
A |
4: 126,215,360 (GRCm39) |
G35V |
probably damaging |
Het |
Apob |
A |
C |
12: 8,062,705 (GRCm39) |
D3729A |
possibly damaging |
Het |
App |
G |
A |
16: 84,900,127 (GRCm39) |
H108Y |
probably damaging |
Het |
Arap3 |
G |
A |
18: 38,112,934 (GRCm39) |
A1092V |
possibly damaging |
Het |
Arid3a |
T |
C |
10: 79,787,612 (GRCm39) |
S550P |
unknown |
Het |
Armc2 |
T |
G |
10: 41,851,404 (GRCm39) |
E259D |
probably benign |
Het |
Bnc2 |
A |
G |
4: 84,474,111 (GRCm39) |
C12R |
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Cc2d2b |
C |
T |
19: 40,753,845 (GRCm39) |
R123* |
probably null |
Het |
Cdc37l1 |
T |
A |
19: 28,989,402 (GRCm39) |
H286Q |
possibly damaging |
Het |
Cfap54 |
A |
T |
10: 92,820,097 (GRCm39) |
L1239Q |
possibly damaging |
Het |
Cfap58 |
T |
C |
19: 47,974,993 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
T |
1: 90,706,566 (GRCm39) |
D2789E |
unknown |
Het |
Ctnna2 |
G |
T |
6: 76,879,423 (GRCm39) |
|
probably benign |
Het |
Dazl |
A |
G |
17: 50,590,178 (GRCm39) |
V271A |
probably benign |
Het |
Dennd4c |
A |
T |
4: 86,755,637 (GRCm39) |
N1610Y |
probably benign |
Het |
Dusp13b |
T |
A |
14: 21,792,756 (GRCm39) |
K56N |
probably benign |
Het |
Erbb2 |
T |
A |
11: 98,312,884 (GRCm39) |
I149N |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,388,552 (GRCm39) |
C217S |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,985,413 (GRCm39) |
C122R |
probably damaging |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Foxm1 |
T |
A |
6: 128,344,298 (GRCm39) |
I182N |
probably damaging |
Het |
Ggnbp2 |
T |
C |
11: 84,730,886 (GRCm39) |
N381S |
possibly damaging |
Het |
Gja3 |
T |
C |
14: 57,274,048 (GRCm39) |
E108G |
probably benign |
Het |
Gm40460 |
C |
A |
7: 141,794,499 (GRCm39) |
G106V |
unknown |
Het |
Gm9736 |
A |
G |
10: 77,586,849 (GRCm39) |
C114R |
unknown |
Het |
Gpbp1 |
A |
T |
13: 111,563,033 (GRCm39) |
D492E |
unknown |
Het |
Gper1 |
T |
C |
5: 139,412,312 (GRCm39) |
V219A |
possibly damaging |
Het |
Gtf2e1 |
C |
T |
16: 37,356,364 (GRCm39) |
R56Q |
probably benign |
Het |
H2ac10 |
T |
C |
13: 23,718,151 (GRCm39) |
L24P |
probably damaging |
Het |
Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
Kat6a |
T |
A |
8: 23,430,072 (GRCm39) |
M1809K |
unknown |
Het |
Kdm2b |
A |
T |
5: 123,127,112 (GRCm39) |
|
probably benign |
Het |
Kif7 |
A |
T |
7: 79,356,585 (GRCm39) |
M702K |
probably benign |
Het |
Lrrtm4 |
T |
A |
6: 79,999,426 (GRCm39) |
N279K |
probably damaging |
Het |
Mcrip1 |
G |
A |
11: 120,435,542 (GRCm39) |
P31L |
probably damaging |
Het |
Mettl25b |
A |
G |
3: 87,831,195 (GRCm39) |
I444T |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,362,315 (GRCm39) |
S1497R |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,366,688 (GRCm39) |
I1607N |
probably damaging |
Het |
Nrde2 |
G |
T |
12: 100,117,518 (GRCm39) |
T47K |
probably benign |
Het |
Or5w12 |
C |
T |
2: 87,502,313 (GRCm39) |
V133I |
probably benign |
Het |
Or6b2b |
T |
G |
1: 92,419,411 (GRCm39) |
E22A |
probably benign |
Het |
Or6c1 |
T |
C |
10: 129,518,285 (GRCm39) |
T108A |
probably benign |
Het |
Ppargc1a |
G |
A |
5: 51,652,146 (GRCm39) |
T184I |
possibly damaging |
Het |
Ppp1r15a |
T |
C |
7: 45,173,920 (GRCm39) |
D296G |
probably damaging |
Het |
Prl7c1 |
C |
T |
13: 27,964,751 (GRCm39) |
|
probably benign |
Het |
Prss42 |
G |
T |
9: 110,628,228 (GRCm39) |
R124L |
possibly damaging |
Het |
Psmd1 |
T |
G |
1: 86,064,817 (GRCm39) |
Y950D |
probably damaging |
Het |
Ptprr |
A |
T |
10: 116,024,119 (GRCm39) |
L250F |
possibly damaging |
Het |
Rabgef1 |
T |
A |
5: 130,237,554 (GRCm39) |
M208K |
possibly damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,437,793 (GRCm39) |
Y17C |
probably damaging |
Het |
Scart2 |
T |
A |
7: 139,877,806 (GRCm39) |
D929E |
probably damaging |
Het |
Sec23ip |
T |
A |
7: 128,363,226 (GRCm39) |
C463S |
probably damaging |
Het |
Serpina3n |
A |
G |
12: 104,379,710 (GRCm39) |
T368A |
probably damaging |
Het |
Sez6l |
C |
T |
5: 112,609,083 (GRCm39) |
A589T |
probably benign |
Het |
Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
Spag5 |
T |
A |
11: 78,192,823 (GRCm39) |
Y52N |
possibly damaging |
Het |
Tenm3 |
G |
A |
8: 48,788,548 (GRCm39) |
S494L |
unknown |
Het |
Top3b |
T |
C |
16: 16,701,299 (GRCm39) |
Y204H |
probably damaging |
Het |
Trim43b |
C |
T |
9: 88,973,452 (GRCm39) |
V94M |
possibly damaging |
Het |
Trps1 |
T |
G |
15: 50,524,658 (GRCm39) |
I1091L |
probably damaging |
Het |
Ttk |
G |
A |
9: 83,725,741 (GRCm39) |
R221Q |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,549,466 (GRCm39) |
M31737R |
probably damaging |
Het |
Uso1 |
T |
A |
5: 92,335,125 (GRCm39) |
L495* |
probably null |
Het |
Usp19 |
A |
G |
9: 108,372,284 (GRCm39) |
D447G |
possibly damaging |
Het |
Zdhhc2 |
A |
G |
8: 40,920,563 (GRCm39) |
E274G |
probably damaging |
Het |
Zfp106 |
T |
A |
2: 120,350,935 (GRCm39) |
Y1595F |
probably damaging |
Het |
Zfp932 |
A |
T |
5: 110,157,520 (GRCm39) |
H406L |
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 |
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 |
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'- CCAACTCAGCCAAGGACTTG -3'
(R):5'- AACAGGTTCTGAGCTTAGGC -3'
Sequencing Primer
(F):5'- ACTGTCCCCTTGCAGACAG -3'
(R):5'- CTACGGCCAAGGTAATAGTGAC -3'
|
Posted On |
2022-01-20 |