Incidental Mutation 'R7166:Atp13a2'
| ID |
557926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a2
|
| Ensembl Gene |
ENSMUSG00000036622 |
| Gene Name |
ATPase type 13A2 |
| Synonyms |
1110012E06Rik |
| MMRRC Submission |
045227-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140734295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1139
(R1139Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037055]
[ENSMUST00000071977]
[ENSMUST00000127833]
[ENSMUST00000166376]
[ENSMUST00000168047]
|
| AlphaFold |
Q9CTG6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037055
AA Change: R1139Q
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: R1139Q
| 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: ENSMUST00000071977
|
| SMART Domains |
Protein: ENSMUSP00000071868
Gene: ENSMUSG00000060572
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAGP
|
3 |
153 |
1.2e-62 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000127833
|
| SMART Domains |
Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
| 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: ENSMUST00000166376
|
| SMART Domains |
Protein: ENSMUSP00000132711
Gene: ENSMUSG00000060572
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAGP
|
2 |
153 |
2e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168047
|
| SMART Domains |
Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (52/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
T |
C |
5: 88,615,387 (GRCm39) |
L272P |
possibly damaging |
Het |
| Ash2l |
C |
A |
8: 26,317,348 (GRCm39) |
G335V |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,251,966 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
T |
A |
5: 121,934,460 (GRCm39) |
N886K |
possibly damaging |
Het |
| Celsr3 |
G |
T |
9: 108,720,150 (GRCm39) |
C2512F |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,875,843 (GRCm39) |
V449A |
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,758,839 (GRCm39) |
C70* |
probably null |
Het |
| Chfr |
C |
A |
5: 110,306,671 (GRCm39) |
P472Q |
probably benign |
Het |
| Crybg2 |
G |
A |
4: 133,788,193 (GRCm39) |
R22Q |
probably damaging |
Het |
| Eef2k |
T |
C |
7: 120,483,995 (GRCm39) |
F244L |
probably damaging |
Het |
| Efcab11 |
A |
T |
12: 99,849,614 (GRCm39) |
M23K |
|
Het |
| Eif4a3l2 |
A |
G |
6: 116,528,329 (GRCm39) |
I69V |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,305,967 (GRCm39) |
M114K |
possibly damaging |
Het |
| Fam217a |
T |
C |
13: 35,094,298 (GRCm39) |
Y487C |
probably benign |
Het |
| Farsb |
T |
C |
1: 78,447,821 (GRCm39) |
N205S |
probably benign |
Het |
| Glra1 |
A |
G |
11: 55,405,904 (GRCm39) |
F370S |
probably benign |
Het |
| Gm12258 |
T |
A |
11: 58,749,299 (GRCm39) |
M158K |
|
Het |
| Gm14305 |
T |
A |
2: 176,412,736 (GRCm39) |
H209Q |
probably damaging |
Het |
| Gm4924 |
A |
T |
10: 82,214,035 (GRCm39) |
Q611L |
unknown |
Het |
| H4c11 |
A |
G |
13: 21,919,321 (GRCm39) |
H19R |
unknown |
Het |
| Haus6 |
T |
C |
4: 86,501,924 (GRCm39) |
E649G |
possibly damaging |
Het |
| Hlcs |
C |
T |
16: 94,063,585 (GRCm39) |
D345N |
possibly damaging |
Het |
| Htt |
C |
A |
5: 35,010,238 (GRCm39) |
Q1564K |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,355,151 (GRCm39) |
V481I |
probably benign |
Het |
| Jak3 |
T |
C |
8: 72,134,960 (GRCm39) |
I531T |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,898,428 (GRCm39) |
H609Q |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,746,446 (GRCm39) |
S4131T |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,653,889 (GRCm39) |
S31P |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,121 (GRCm39) |
F104L |
possibly damaging |
Het |
| Or4c100 |
A |
T |
2: 88,355,990 (GRCm39) |
Q21L |
possibly damaging |
Het |
| Or8h8 |
T |
A |
2: 86,753,092 (GRCm39) |
K261N |
probably damaging |
Het |
| Paxx |
A |
T |
2: 25,350,238 (GRCm39) |
L123Q |
probably damaging |
Het |
| Prdm13 |
C |
T |
4: 21,683,528 (GRCm39) |
R144Q |
unknown |
Het |
| Rab2b |
C |
A |
14: 52,516,802 (GRCm39) |
|
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,396,237 (GRCm39) |
I509T |
probably damaging |
Het |
| Ropn1l |
T |
C |
15: 31,453,655 (GRCm39) |
Q12R |
|
Het |
| Ryr3 |
T |
G |
2: 112,705,373 (GRCm39) |
Y847S |
probably damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,648,646 (GRCm39) |
T456S |
possibly damaging |
Het |
| Slc26a2 |
A |
T |
18: 61,331,901 (GRCm39) |
M510K |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,741,036 (GRCm39) |
T537A |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,031,939 (GRCm39) |
Y132H |
unknown |
Het |
| Sltm |
T |
C |
9: 70,492,132 (GRCm39) |
L725S |
probably damaging |
Het |
| Spz1 |
A |
G |
13: 92,712,435 (GRCm39) |
C14R |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,609,301 (GRCm39) |
Q172L |
unknown |
Het |
| Synj2bp |
T |
C |
12: 81,551,289 (GRCm39) |
D92G |
probably benign |
Het |
| Tmem169 |
A |
C |
1: 72,340,229 (GRCm39) |
T220P |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,718,372 (GRCm39) |
I7270F |
unknown |
Het |
| Txndc16 |
T |
G |
14: 45,420,611 (GRCm39) |
N137H |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,976,389 (GRCm39) |
Y2499H |
|
Het |
| Ugt2b38 |
T |
C |
5: 87,558,305 (GRCm39) |
D452G |
probably damaging |
Het |
| Zfp12 |
T |
A |
5: 143,231,257 (GRCm39) |
I560N |
possibly damaging |
Het |
| Zfp60 |
A |
G |
7: 27,448,937 (GRCm39) |
K535R |
possibly damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,761 (GRCm39) |
C492S |
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 |
|
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'- TTGTGGACAGCTCCTTCAAG -3'
(R):5'- GGTCTAAAGTGAGACAGCAGTC -3'
Sequencing Primer
(F):5'- GCTACTGCTGCTGGGTC -3'
(R):5'- ACTTCCCCAGGAGAGTGTGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation