Incidental Mutation 'R6519:Atp13a2'
| ID |
520969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a2
|
| Ensembl Gene |
ENSMUSG00000036622 |
| Gene Name |
ATPase type 13A2 |
| Synonyms |
1110012E06Rik |
| MMRRC Submission |
044646-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6519 (G1)
|
| Quality Score |
155.008 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140714184-140734641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 140728165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 503
(R503P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037055]
[ENSMUST00000127833]
[ENSMUST00000168047]
|
| AlphaFold |
Q9CTG6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037055
AA Change: R503P
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: R503P
| 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 |
possibly damaging
Transcript: ENSMUST00000127833
AA Change: R503P
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: R503P
| 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: ENSMUST00000137630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156995
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168047
AA Change: R586P
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: R586P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170797
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.7%
|
| Validation Efficiency |
97% (58/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,495,723 (GRCm39) |
I53T |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,715,462 (GRCm39) |
D909N |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,792,079 (GRCm39) |
Y1107H |
possibly damaging |
Het |
| Aldob |
A |
T |
4: 49,543,835 (GRCm39) |
V49E |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,935,476 (GRCm39) |
Y248* |
probably null |
Het |
| Apol7b |
T |
A |
15: 77,307,548 (GRCm39) |
T316S |
probably benign |
Het |
| Brca2 |
A |
C |
5: 150,464,444 (GRCm39) |
T1403P |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,526,788 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cct7 |
C |
A |
6: 85,439,132 (GRCm39) |
Q149K |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,669,461 (GRCm39) |
H179L |
probably benign |
Het |
| Cyp2b19 |
A |
G |
7: 26,458,536 (GRCm39) |
T84A |
probably benign |
Het |
| Cyp3a41a |
A |
G |
5: 145,652,308 (GRCm39) |
C64R |
probably damaging |
Het |
| Dclre1c |
T |
C |
2: 3,430,366 (GRCm39) |
Y75H |
probably damaging |
Het |
| Dhx35 |
A |
T |
2: 158,673,630 (GRCm39) |
I354F |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,203,771 (GRCm39) |
N629S |
probably damaging |
Het |
| Dnase1 |
A |
T |
16: 3,856,453 (GRCm39) |
S132C |
probably damaging |
Het |
| Dnttip2 |
T |
C |
3: 122,069,120 (GRCm39) |
S112P |
probably benign |
Het |
| Eif4g3 |
C |
A |
4: 137,721,319 (GRCm39) |
P48T |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,057,020 (GRCm39) |
T4239S |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,196,647 (GRCm39) |
V1419A |
possibly damaging |
Het |
| Ghitm |
A |
C |
14: 36,847,204 (GRCm39) |
M290R |
probably damaging |
Het |
| Glb1l |
T |
C |
1: 75,177,700 (GRCm39) |
D406G |
probably benign |
Het |
| Glipr1l1 |
C |
A |
10: 111,898,153 (GRCm39) |
A86D |
probably benign |
Het |
| Golm2 |
T |
C |
2: 121,737,218 (GRCm39) |
V141A |
probably benign |
Het |
| Grm7 |
C |
T |
6: 111,184,713 (GRCm39) |
A348V |
probably benign |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,865,252 (GRCm39) |
N155K |
probably damaging |
Het |
| Hus1b |
A |
G |
13: 31,130,930 (GRCm39) |
I243T |
probably benign |
Het |
| Kcnab2 |
T |
C |
4: 152,496,450 (GRCm39) |
T65A |
probably damaging |
Het |
| Lasp1 |
T |
A |
11: 97,706,383 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
G |
A |
16: 32,815,367 (GRCm39) |
|
probably benign |
Het |
| Ltb4r2 |
C |
T |
14: 56,000,438 (GRCm39) |
T353M |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,118 (GRCm39) |
M1316T |
probably benign |
Het |
| Msr1 |
G |
A |
8: 40,077,262 (GRCm39) |
T116I |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,117,343 (GRCm39) |
I356V |
probably benign |
Het |
| Npy |
C |
T |
6: 49,800,669 (GRCm39) |
S31F |
possibly damaging |
Het |
| Nsd3 |
C |
T |
8: 26,152,955 (GRCm39) |
P432S |
probably damaging |
Het |
| Nup160 |
A |
C |
2: 90,548,561 (GRCm39) |
R1037S |
probably damaging |
Het |
| Or12j4 |
T |
A |
7: 140,046,458 (GRCm39) |
S115T |
probably benign |
Het |
| Or4b1d |
A |
T |
2: 89,969,156 (GRCm39) |
I109N |
possibly damaging |
Het |
| Or8s5 |
C |
T |
15: 98,237,929 (GRCm39) |
G314R |
probably benign |
Het |
| Pcx |
A |
G |
19: 4,652,239 (GRCm39) |
E108G |
possibly damaging |
Het |
| Pecam1 |
A |
T |
11: 106,590,468 (GRCm39) |
M102K |
probably benign |
Het |
| Pgd |
G |
T |
4: 149,235,343 (GRCm39) |
Y433* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,355,404 (GRCm39) |
E744G |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,535,503 (GRCm39) |
I118T |
probably benign |
Het |
| Rdh11 |
T |
A |
12: 79,229,589 (GRCm39) |
H228L |
probably damaging |
Het |
| Rnf44 |
C |
T |
13: 54,829,599 (GRCm39) |
R340Q |
probably damaging |
Het |
| Rtraf |
A |
G |
14: 19,869,998 (GRCm39) |
V88A |
possibly damaging |
Het |
| Sigmar1 |
T |
C |
4: 41,739,380 (GRCm39) |
T185A |
possibly damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,081 (GRCm39) |
R590G |
probably damaging |
Het |
| Trappc14 |
A |
G |
5: 138,260,110 (GRCm39) |
S344P |
probably damaging |
Het |
| Trbv19 |
T |
C |
6: 41,155,573 (GRCm39) |
|
probably benign |
Het |
| Txnrd3 |
T |
C |
6: 89,631,405 (GRCm39) |
|
probably null |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 53,000,275 (GRCm39) |
N192D |
possibly damaging |
Het |
| Zfp955b |
T |
A |
17: 33,521,051 (GRCm39) |
S173R |
possibly damaging |
Het |
| Zranb1 |
T |
A |
7: 132,551,857 (GRCm39) |
C195* |
probably null |
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 |
|
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'- TCTGGGTTCACAGTGCTTCC -3'
(R):5'- AGCCCCACAATGGTTCTTC -3'
Sequencing Primer
(F):5'- TTCCTACCAGGTACCTGTGAGG -3'
(R):5'- TCTTCAACAATTAAATGATTTCTGGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation