Incidental Mutation 'R9256:Atp13a2'
ID |
701856 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a2
|
Ensembl Gene |
ENSMUSG00000036622 |
Gene Name |
ATPase type 13A2 |
Synonyms |
1110012E06Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9256 (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 140730038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 643
(E643G)
|
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: E643G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039648 Gene: ENSMUSG00000036622 AA Change: E643G
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: E643G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132183 Gene: ENSMUSG00000036622 AA Change: E643G
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: E726G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126461 Gene: ENSMUSG00000036622 AA Change: E726G
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: 98.8%
|
Validation Efficiency |
99% (70/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
A |
G |
8: 46,945,930 (GRCm39) |
Y21C |
probably damaging |
Het |
Adamts7 |
A |
T |
9: 90,060,218 (GRCm39) |
I290F |
probably damaging |
Het |
Adcy5 |
G |
A |
16: 35,124,052 (GRCm39) |
V1244I |
probably damaging |
Het |
Adnp |
A |
T |
2: 168,025,945 (GRCm39) |
I450N |
probably damaging |
Het |
AL732309.1 |
A |
T |
2: 25,136,211 (GRCm39) |
M1K |
probably null |
Het |
Alox15 |
C |
T |
11: 70,236,370 (GRCm39) |
G510D |
possibly damaging |
Het |
Arhgef16 |
C |
A |
4: 154,363,502 (GRCm39) |
E685* |
probably null |
Het |
AW554918 |
C |
A |
18: 25,423,061 (GRCm39) |
Q171K |
probably damaging |
Het |
Bdkrb2 |
A |
G |
12: 105,558,352 (GRCm39) |
T198A |
probably benign |
Het |
C7 |
T |
C |
15: 5,023,645 (GRCm39) |
E721G |
probably damaging |
Het |
Cc2d2b |
T |
C |
19: 40,797,848 (GRCm39) |
Y823H |
unknown |
Het |
Cd74 |
T |
C |
18: 60,944,366 (GRCm39) |
V192A |
probably benign |
Het |
Cdc42bpg |
G |
A |
19: 6,361,067 (GRCm39) |
A231T |
probably damaging |
Het |
Cers6 |
G |
A |
2: 68,777,706 (GRCm39) |
|
probably benign |
Het |
Copg2 |
T |
C |
6: 30,788,637 (GRCm39) |
I555M |
probably benign |
Het |
Cracd |
T |
G |
5: 76,988,757 (GRCm39) |
V36G |
unknown |
Het |
Crnkl1 |
A |
G |
2: 145,770,216 (GRCm39) |
V209A |
possibly damaging |
Het |
Dock7 |
T |
C |
4: 98,971,272 (GRCm39) |
T98A |
|
Het |
Enpp5 |
T |
C |
17: 44,396,414 (GRCm39) |
I442T |
probably benign |
Het |
Fbxw19 |
T |
C |
9: 109,310,641 (GRCm39) |
Y427C |
probably damaging |
Het |
Fktn |
T |
C |
4: 53,744,653 (GRCm39) |
V311A |
probably benign |
Het |
Fyb1 |
T |
G |
15: 6,674,358 (GRCm39) |
S665A |
possibly damaging |
Het |
Igkv6-20 |
T |
C |
6: 70,313,417 (GRCm39) |
Y16C |
probably benign |
Het |
Ints10 |
A |
G |
8: 69,261,129 (GRCm39) |
R370G |
possibly damaging |
Het |
Iqub |
A |
T |
6: 24,446,198 (GRCm39) |
I742N |
possibly damaging |
Het |
Kcnn3 |
T |
C |
3: 89,574,407 (GRCm39) |
Y640H |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,341,303 (GRCm39) |
V959A |
probably benign |
Het |
Marcksl1 |
A |
G |
4: 129,408,816 (GRCm39) |
S132G |
probably benign |
Het |
Mfsd4b3-ps |
T |
A |
10: 39,824,010 (GRCm39) |
K83N |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,760,862 (GRCm39) |
E384G |
possibly damaging |
Het |
Morn5 |
G |
T |
2: 35,939,553 (GRCm39) |
G5W |
probably damaging |
Het |
Mrpl46 |
A |
G |
7: 78,432,671 (GRCm39) |
S36P |
probably benign |
Het |
Mtif2 |
T |
C |
11: 29,490,777 (GRCm39) |
F494L |
probably benign |
Het |
Naalad2 |
T |
C |
9: 18,274,534 (GRCm39) |
N336S |
probably benign |
Het |
Nepro |
A |
G |
16: 44,544,790 (GRCm39) |
N22S |
probably benign |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Or10x4 |
C |
T |
1: 174,219,109 (GRCm39) |
T158I |
probably benign |
Het |
Or1e1f |
A |
T |
11: 73,856,135 (GRCm39) |
I234F |
probably benign |
Het |
Or2d36 |
T |
C |
7: 106,747,387 (GRCm39) |
I288T |
probably damaging |
Het |
Or8c16 |
T |
A |
9: 38,130,498 (GRCm39) |
Y123* |
probably null |
Het |
Or9r7 |
A |
G |
10: 129,962,335 (GRCm39) |
V197A |
possibly damaging |
Het |
Pcnx1 |
A |
T |
12: 82,020,047 (GRCm39) |
N724Y |
|
Het |
Pde8b |
G |
A |
13: 95,164,204 (GRCm39) |
R669C |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,397,290 (GRCm39) |
|
probably null |
Het |
Pls1 |
A |
G |
9: 95,655,696 (GRCm39) |
V352A |
probably damaging |
Het |
Prb1b |
T |
C |
6: 132,288,972 (GRCm39) |
N284S |
unknown |
Het |
Prtg |
A |
T |
9: 72,758,977 (GRCm39) |
I444F |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,219,776 (GRCm39) |
H1998L |
probably damaging |
Het |
Qrich2 |
A |
T |
11: 116,356,450 (GRCm39) |
V133D |
probably benign |
Het |
Rab35 |
C |
A |
5: 115,778,246 (GRCm39) |
R71S |
probably damaging |
Het |
Scgb2b12 |
A |
G |
7: 32,026,054 (GRCm39) |
L46P |
probably damaging |
Het |
Sdha |
A |
T |
13: 74,475,483 (GRCm39) |
|
probably benign |
Het |
Sdr39u1 |
C |
A |
14: 56,135,209 (GRCm39) |
V245F |
probably benign |
Het |
Sgo2a |
T |
A |
1: 58,058,772 (GRCm39) |
V1117E |
possibly damaging |
Het |
Slc12a2 |
T |
C |
18: 58,074,867 (GRCm39) |
S1154P |
probably damaging |
Het |
Slc6a1 |
A |
T |
6: 114,287,554 (GRCm39) |
Q441L |
possibly damaging |
Het |
Smtnl2 |
A |
T |
11: 72,293,835 (GRCm39) |
|
probably null |
Het |
Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tmem38b |
A |
T |
4: 53,848,924 (GRCm39) |
I110F |
probably damaging |
Het |
Ubqln1 |
A |
G |
13: 58,325,721 (GRCm39) |
I573T |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,356,235 (GRCm39) |
I1155M |
possibly damaging |
Het |
Vipr1 |
A |
G |
9: 121,490,118 (GRCm39) |
I164V |
probably benign |
Het |
Vps13b |
T |
G |
15: 35,623,925 (GRCm39) |
S1281A |
possibly damaging |
Het |
Vps13d |
A |
G |
4: 144,882,374 (GRCm39) |
L1073P |
|
Het |
Wipi1 |
C |
T |
11: 109,473,952 (GRCm39) |
|
probably null |
Het |
Zdhhc8 |
G |
A |
16: 18,042,686 (GRCm39) |
P505S |
probably damaging |
Het |
Zfp292 |
C |
T |
4: 34,839,899 (GRCm39) |
V84I |
probably benign |
Het |
Zfp712 |
T |
C |
13: 67,188,791 (GRCm39) |
T579A |
probably benign |
Het |
Zfp788 |
G |
A |
7: 41,299,638 (GRCm39) |
R758Q |
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 |
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 |
|
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'- GTCTTGGTGGTAATGAGACCC -3'
(R):5'- AAAGTCGCTGGGTACTGTGG -3'
Sequencing Primer
(F):5'- GTGGTAATGAGACCCCCACC -3'
(R):5'- TACTGTGGAGGGAGAGAGGTATC -3'
|
Posted On |
2022-03-25 |