Incidental Mutation 'R8946:Atp13a5'
ID |
681328 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a5
|
Ensembl Gene |
ENSMUSG00000048939 |
Gene Name |
ATPase type 13A5 |
Synonyms |
C630015F21Rik |
MMRRC Submission |
068784-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8946 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29146601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 231
(L231P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000142681]
[ENSMUST00000143373]
|
AlphaFold |
Q3TYU2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075806
AA Change: L276P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075204 Gene: ENSMUSG00000048939 AA Change: L276P
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
142 |
4.1e-31 |
PFAM |
Cation_ATPase_N
|
163 |
223 |
8.78e0 |
SMART |
Pfam:E1-E2_ATPase
|
228 |
475 |
1.5e-35 |
PFAM |
Pfam:Hydrolase
|
480 |
759 |
2.7e-11 |
PFAM |
Pfam:HAD
|
483 |
857 |
1.1e-28 |
PFAM |
Pfam:Cation_ATPase
|
564 |
638 |
1.3e-6 |
PFAM |
transmembrane domain
|
901 |
923 |
N/A |
INTRINSIC |
transmembrane domain
|
933 |
950 |
N/A |
INTRINSIC |
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
transmembrane domain
|
1042 |
1061 |
N/A |
INTRINSIC |
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
transmembrane domain
|
1107 |
1129 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142681
AA Change: L276P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118627 Gene: ENSMUSG00000048939 AA Change: L276P
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
142 |
7.5e-25 |
PFAM |
Cation_ATPase_N
|
163 |
223 |
8.78e0 |
SMART |
Pfam:E1-E2_ATPase
|
229 |
475 |
1e-36 |
PFAM |
Pfam:Hydrolase
|
480 |
860 |
5.9e-16 |
PFAM |
Pfam:HAD
|
483 |
857 |
4e-27 |
PFAM |
Pfam:Hydrolase_like2
|
565 |
638 |
3.7e-8 |
PFAM |
transmembrane domain
|
901 |
923 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143373
AA Change: L231P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121208 Gene: ENSMUSG00000048939 AA Change: L231P
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
142 |
1e-24 |
PFAM |
Pfam:E1-E2_ATPase
|
196 |
430 |
3.2e-34 |
PFAM |
Pfam:Hydrolase
|
435 |
815 |
9.1e-16 |
PFAM |
Pfam:HAD
|
438 |
812 |
6.2e-27 |
PFAM |
Pfam:Hydrolase_like2
|
520 |
593 |
4.8e-8 |
PFAM |
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
transmembrane domain
|
888 |
905 |
N/A |
INTRINSIC |
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
transmembrane domain
|
997 |
1016 |
N/A |
INTRINSIC |
transmembrane domain
|
1025 |
1047 |
N/A |
INTRINSIC |
transmembrane domain
|
1062 |
1084 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
97% (65/67) |
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap12 |
A |
G |
10: 4,304,368 (GRCm39) |
S393G |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,430,083 (GRCm39) |
F862L |
probably damaging |
Het |
Ankrd31 |
T |
C |
13: 97,046,037 (GRCm39) |
*1546Q |
probably null |
Het |
Ankrd33b |
T |
C |
15: 31,297,894 (GRCm39) |
T288A |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,145,227 (GRCm39) |
I1331T |
possibly damaging |
Het |
C1qtnf12 |
T |
C |
4: 156,050,882 (GRCm39) |
F284L |
probably damaging |
Het |
Caprin1 |
A |
T |
2: 103,608,378 (GRCm39) |
H250Q |
probably damaging |
Het |
Cd2bp2 |
A |
C |
7: 126,793,923 (GRCm39) |
I122S |
probably damaging |
Het |
Cd300lf |
T |
A |
11: 115,024,738 (GRCm39) |
|
probably benign |
Het |
Ceacam14 |
A |
G |
7: 17,547,999 (GRCm39) |
I30V |
probably benign |
Het |
Chchd1 |
T |
A |
14: 20,753,385 (GRCm39) |
*56R |
probably null |
Het |
Ckap5 |
A |
G |
2: 91,409,861 (GRCm39) |
T948A |
probably benign |
Het |
Clec12a |
A |
T |
6: 129,340,949 (GRCm39) |
N243I |
possibly damaging |
Het |
Col11a2 |
A |
G |
17: 34,270,757 (GRCm39) |
M462V |
probably benign |
Het |
Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
Csnka2ip |
T |
C |
16: 64,300,667 (GRCm39) |
|
probably benign |
Het |
D130040H23Rik |
C |
A |
8: 69,755,033 (GRCm39) |
T146N |
possibly damaging |
Het |
Dennd5b |
T |
C |
6: 148,943,485 (GRCm39) |
|
probably benign |
Het |
Fanci |
A |
G |
7: 79,045,726 (GRCm39) |
T23A |
probably benign |
Het |
Fmnl1 |
T |
C |
11: 103,071,741 (GRCm39) |
Y83H |
probably damaging |
Het |
Galnt13 |
C |
A |
2: 54,770,075 (GRCm39) |
T289N |
probably benign |
Het |
Gcn1 |
A |
G |
5: 115,733,404 (GRCm39) |
D1074G |
probably benign |
Het |
Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
Gnl1 |
T |
C |
17: 36,294,479 (GRCm39) |
I366T |
probably benign |
Het |
Gtf2ird2 |
A |
T |
5: 134,245,161 (GRCm39) |
Y473F |
probably damaging |
Het |
Ikzf1 |
T |
A |
11: 11,719,485 (GRCm39) |
D397E |
possibly damaging |
Het |
Ints15 |
C |
G |
5: 143,300,795 (GRCm39) |
E19Q |
probably benign |
Het |
Intu |
C |
T |
3: 40,637,789 (GRCm39) |
A425V |
possibly damaging |
Het |
Irag1 |
A |
T |
7: 110,477,347 (GRCm39) |
|
probably null |
Het |
Jakmip1 |
G |
A |
5: 37,343,084 (GRCm39) |
|
probably null |
Het |
Lif |
C |
A |
11: 4,219,225 (GRCm39) |
P168Q |
possibly damaging |
Het |
Myh11 |
A |
C |
16: 14,048,580 (GRCm39) |
S576A |
probably benign |
Het |
Neb |
A |
G |
2: 52,041,425 (GRCm39) |
V6559A |
probably damaging |
Het |
Nphs1 |
A |
G |
7: 30,162,625 (GRCm39) |
N368S |
probably damaging |
Het |
Npsr1 |
G |
A |
9: 24,224,525 (GRCm39) |
V148I |
probably benign |
Het |
Or51f1 |
C |
A |
7: 102,505,725 (GRCm39) |
G255* |
probably null |
Het |
Or52ab4 |
T |
C |
7: 102,987,573 (GRCm39) |
F104S |
probably damaging |
Het |
Or56a5 |
T |
A |
7: 104,792,832 (GRCm39) |
I223F |
probably damaging |
Het |
Or5b111 |
A |
T |
19: 13,291,502 (GRCm39) |
L49Q |
probably damaging |
Het |
Or7e166 |
C |
T |
9: 19,624,885 (GRCm39) |
T254I |
probably damaging |
Het |
Patz1 |
T |
C |
11: 3,241,856 (GRCm39) |
C415R |
probably damaging |
Het |
Pcdha9 |
A |
T |
18: 37,131,546 (GRCm39) |
N205I |
possibly damaging |
Het |
Pcdhga12 |
A |
T |
18: 37,899,711 (GRCm39) |
E181V |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,018,158 (GRCm39) |
Y1333H |
probably damaging |
Het |
Phf7 |
A |
T |
14: 30,970,106 (GRCm39) |
|
probably benign |
Het |
Pomc |
T |
G |
12: 4,010,298 (GRCm39) |
S180A |
probably benign |
Het |
Ppp1r7 |
T |
A |
1: 93,288,536 (GRCm39) |
|
probably null |
Het |
Prrc2c |
A |
T |
1: 162,536,478 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGC |
GGCCACGGCCGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Semp2l1 |
C |
T |
1: 32,585,685 (GRCm39) |
R75Q |
probably benign |
Het |
Senp1 |
T |
C |
15: 97,940,782 (GRCm39) |
K664E |
probably damaging |
Het |
Skint7 |
A |
G |
4: 111,839,198 (GRCm39) |
N164S |
possibly damaging |
Het |
Smg1 |
C |
A |
7: 117,751,900 (GRCm39) |
R2775M |
probably null |
Het |
Snrnp27 |
C |
T |
6: 86,653,226 (GRCm39) |
V131M |
probably damaging |
Het |
Spire1 |
C |
A |
18: 67,629,686 (GRCm39) |
R357L |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,434,071 (GRCm39) |
V959I |
probably damaging |
Het |
St6galnac2 |
T |
C |
11: 116,568,458 (GRCm39) |
H335R |
probably damaging |
Het |
Stard13 |
C |
T |
5: 150,984,267 (GRCm39) |
R623H |
probably damaging |
Het |
Syde1 |
T |
A |
10: 78,424,683 (GRCm39) |
E383V |
probably damaging |
Het |
Taf10 |
A |
G |
7: 105,393,524 (GRCm39) |
M1T |
probably null |
Het |
Traf3ip3 |
A |
G |
1: 192,869,415 (GRCm39) |
C257R |
probably damaging |
Het |
Trpm8 |
G |
A |
1: 88,276,061 (GRCm39) |
|
probably benign |
Het |
Veph1 |
A |
G |
3: 66,171,301 (GRCm39) |
|
probably null |
Het |
Vmn1r169 |
A |
T |
7: 23,276,640 (GRCm39) |
T11S |
possibly damaging |
Het |
Wdhd1 |
A |
T |
14: 47,482,752 (GRCm39) |
S961T |
probably benign |
Het |
Zfp773 |
T |
C |
7: 7,135,469 (GRCm39) |
T376A |
possibly damaging |
Het |
|
Other mutations in Atp13a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Atp13a5
|
APN |
16 |
29,085,766 (GRCm39) |
nonsense |
probably null |
|
IGL00583:Atp13a5
|
APN |
16 |
29,094,205 (GRCm39) |
splice site |
probably benign |
|
IGL01472:Atp13a5
|
APN |
16 |
29,094,175 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01473:Atp13a5
|
APN |
16 |
29,135,542 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02142:Atp13a5
|
APN |
16 |
29,053,315 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02346:Atp13a5
|
APN |
16 |
29,146,554 (GRCm39) |
nonsense |
probably null |
|
IGL02454:Atp13a5
|
APN |
16 |
29,051,560 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02557:Atp13a5
|
APN |
16 |
29,066,934 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02651:Atp13a5
|
APN |
16 |
29,152,909 (GRCm39) |
splice site |
probably benign |
|
IGL02697:Atp13a5
|
APN |
16 |
29,167,350 (GRCm39) |
missense |
probably benign |
|
IGL02704:Atp13a5
|
APN |
16 |
29,070,080 (GRCm39) |
nonsense |
probably null |
|
IGL02993:Atp13a5
|
APN |
16 |
29,112,322 (GRCm39) |
nonsense |
probably null |
|
IGL03329:Atp13a5
|
APN |
16 |
29,152,883 (GRCm39) |
nonsense |
probably null |
|
IGL03346:Atp13a5
|
APN |
16 |
29,133,422 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03493:Atp13a5
|
APN |
16 |
29,116,342 (GRCm39) |
missense |
probably benign |
|
PIT4810001:Atp13a5
|
UTSW |
16 |
29,133,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R0356:Atp13a5
|
UTSW |
16 |
29,167,573 (GRCm39) |
splice site |
probably benign |
|
R0393:Atp13a5
|
UTSW |
16 |
29,085,681 (GRCm39) |
splice site |
probably benign |
|
R0456:Atp13a5
|
UTSW |
16 |
29,051,492 (GRCm39) |
missense |
probably benign |
0.03 |
R0526:Atp13a5
|
UTSW |
16 |
29,167,558 (GRCm39) |
missense |
probably damaging |
0.97 |
R0632:Atp13a5
|
UTSW |
16 |
29,117,026 (GRCm39) |
missense |
probably benign |
0.00 |
R0674:Atp13a5
|
UTSW |
16 |
29,067,102 (GRCm39) |
splice site |
probably benign |
|
R1417:Atp13a5
|
UTSW |
16 |
29,117,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1470:Atp13a5
|
UTSW |
16 |
29,167,833 (GRCm39) |
missense |
probably benign |
0.19 |
R1470:Atp13a5
|
UTSW |
16 |
29,167,833 (GRCm39) |
missense |
probably benign |
0.19 |
R1515:Atp13a5
|
UTSW |
16 |
29,152,792 (GRCm39) |
missense |
probably benign |
0.23 |
R1659:Atp13a5
|
UTSW |
16 |
29,112,251 (GRCm39) |
missense |
probably benign |
|
R1723:Atp13a5
|
UTSW |
16 |
29,051,551 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1779:Atp13a5
|
UTSW |
16 |
29,133,478 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1794:Atp13a5
|
UTSW |
16 |
29,140,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Atp13a5
|
UTSW |
16 |
29,133,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:Atp13a5
|
UTSW |
16 |
29,140,464 (GRCm39) |
missense |
probably damaging |
0.99 |
R2282:Atp13a5
|
UTSW |
16 |
29,056,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R2356:Atp13a5
|
UTSW |
16 |
29,099,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R2365:Atp13a5
|
UTSW |
16 |
29,070,008 (GRCm39) |
missense |
probably benign |
0.00 |
R2497:Atp13a5
|
UTSW |
16 |
29,157,889 (GRCm39) |
nonsense |
probably null |
|
R2517:Atp13a5
|
UTSW |
16 |
29,116,215 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3552:Atp13a5
|
UTSW |
16 |
29,129,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R3685:Atp13a5
|
UTSW |
16 |
29,135,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R3957:Atp13a5
|
UTSW |
16 |
29,117,012 (GRCm39) |
missense |
probably benign |
0.01 |
R4433:Atp13a5
|
UTSW |
16 |
29,100,842 (GRCm39) |
missense |
probably damaging |
0.99 |
R4503:Atp13a5
|
UTSW |
16 |
29,112,346 (GRCm39) |
missense |
probably benign |
0.37 |
R4579:Atp13a5
|
UTSW |
16 |
29,067,090 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4632:Atp13a5
|
UTSW |
16 |
29,167,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R4718:Atp13a5
|
UTSW |
16 |
29,066,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Atp13a5
|
UTSW |
16 |
29,066,912 (GRCm39) |
missense |
probably damaging |
0.98 |
R4899:Atp13a5
|
UTSW |
16 |
29,197,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Atp13a5
|
UTSW |
16 |
29,152,846 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5011:Atp13a5
|
UTSW |
16 |
29,169,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R5013:Atp13a5
|
UTSW |
16 |
29,169,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R5032:Atp13a5
|
UTSW |
16 |
29,082,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5226:Atp13a5
|
UTSW |
16 |
29,067,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R5485:Atp13a5
|
UTSW |
16 |
29,100,760 (GRCm39) |
critical splice donor site |
probably null |
|
R5598:Atp13a5
|
UTSW |
16 |
29,075,829 (GRCm39) |
intron |
probably benign |
|
R5945:Atp13a5
|
UTSW |
16 |
29,055,995 (GRCm39) |
missense |
probably benign |
0.06 |
R5958:Atp13a5
|
UTSW |
16 |
29,157,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R6194:Atp13a5
|
UTSW |
16 |
29,127,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R6214:Atp13a5
|
UTSW |
16 |
29,070,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:Atp13a5
|
UTSW |
16 |
29,167,555 (GRCm39) |
missense |
probably benign |
0.10 |
R6376:Atp13a5
|
UTSW |
16 |
29,056,004 (GRCm39) |
missense |
probably benign |
0.00 |
R6431:Atp13a5
|
UTSW |
16 |
29,070,154 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6495:Atp13a5
|
UTSW |
16 |
29,140,440 (GRCm39) |
critical splice donor site |
probably null |
|
R6619:Atp13a5
|
UTSW |
16 |
29,167,833 (GRCm39) |
missense |
probably benign |
0.05 |
R6853:Atp13a5
|
UTSW |
16 |
29,140,480 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6932:Atp13a5
|
UTSW |
16 |
29,100,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R7070:Atp13a5
|
UTSW |
16 |
29,152,879 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7343:Atp13a5
|
UTSW |
16 |
29,140,567 (GRCm39) |
missense |
probably benign |
0.01 |
R7425:Atp13a5
|
UTSW |
16 |
29,116,278 (GRCm39) |
nonsense |
probably null |
|
R7570:Atp13a5
|
UTSW |
16 |
29,085,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R7781:Atp13a5
|
UTSW |
16 |
29,116,226 (GRCm39) |
missense |
probably benign |
0.00 |
R7876:Atp13a5
|
UTSW |
16 |
29,140,566 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8358:Atp13a5
|
UTSW |
16 |
29,167,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R8427:Atp13a5
|
UTSW |
16 |
29,167,820 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8435:Atp13a5
|
UTSW |
16 |
29,099,747 (GRCm39) |
critical splice donor site |
probably null |
|
R8830:Atp13a5
|
UTSW |
16 |
29,066,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R8950:Atp13a5
|
UTSW |
16 |
29,197,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R9222:Atp13a5
|
UTSW |
16 |
29,133,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R9454:Atp13a5
|
UTSW |
16 |
29,133,338 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9756:Atp13a5
|
UTSW |
16 |
29,051,583 (GRCm39) |
frame shift |
probably null |
|
R9769:Atp13a5
|
UTSW |
16 |
29,167,513 (GRCm39) |
nonsense |
probably null |
|
R9797:Atp13a5
|
UTSW |
16 |
29,133,491 (GRCm39) |
missense |
probably benign |
0.00 |
X0023:Atp13a5
|
UTSW |
16 |
29,129,600 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Atp13a5
|
UTSW |
16 |
29,100,880 (GRCm39) |
missense |
probably benign |
0.06 |
Z1177:Atp13a5
|
UTSW |
16 |
29,099,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGTCCTAGCCAAATAGGGATAG -3'
(R):5'- TTTGCTAGGCCCCAGGAAAC -3'
Sequencing Primer
(F):5'- CCTAGCCAAATAGGGATAGTTGATC -3'
(R):5'- GAAACAATTCCCTGATTCTAATTCCC -3'
|
Posted On |
2021-08-31 |