Incidental Mutation 'R5294:Atp1a3'
| ID |
405299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a3
|
| Ensembl Gene |
ENSMUSG00000040907 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 3 polypeptide |
| Synonyms |
Atpa-2 |
| MMRRC Submission |
042877-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24677592-24705383 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24687473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 688
(H688L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080882]
[ENSMUST00000102858]
[ENSMUST00000196684]
|
| AlphaFold |
Q6PIC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080882
AA Change: H675L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907
AA Change: H675L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
32 |
106 |
2.41e-22 |
SMART |
|
Pfam:E1-E2_ATPase
|
125 |
356 |
6.3e-64 |
PFAM |
|
Pfam:Hydrolase
|
360 |
719 |
2.6e-32 |
PFAM |
|
Pfam:HAD
|
363 |
716 |
4.7e-18 |
PFAM |
|
Pfam:Hydrolase_like2
|
416 |
511 |
5.7e-26 |
PFAM |
|
Pfam:Cation_ATPase_C
|
789 |
998 |
3.5e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102858
AA Change: H675L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
AA Change: H675L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
32 |
106 |
2.41e-22 |
SMART |
|
Pfam:E1-E2_ATPase
|
124 |
355 |
4.6e-60 |
PFAM |
|
Pfam:Hydrolase
|
360 |
719 |
5.7e-20 |
PFAM |
|
Pfam:HAD
|
363 |
716 |
4.5e-19 |
PFAM |
|
Pfam:Cation_ATPase
|
416 |
511 |
5.1e-25 |
PFAM |
|
Pfam:Cation_ATPase_C
|
789 |
998 |
1.4e-46 |
PFAM |
|
low complexity region
|
1030 |
1047 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184595
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196684
AA Change: H688L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907
AA Change: H688L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
45 |
119 |
1.9e-26 |
SMART |
|
Pfam:E1-E2_ATPase
|
137 |
368 |
4e-58 |
PFAM |
|
Pfam:Hydrolase
|
373 |
732 |
3.8e-18 |
PFAM |
|
Pfam:HAD
|
376 |
729 |
3.8e-17 |
PFAM |
|
Pfam:Cation_ATPase
|
429 |
524 |
5.2e-23 |
PFAM |
|
Pfam:Cation_ATPase_C
|
802 |
1011 |
2.5e-44 |
PFAM |
|
| Meta Mutation Damage Score |
0.5759 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (70/72) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a mutation in this gene display neonatal lethality. Heterozygous mice display hyperactivity, increased activity in responses to methamphetamine, and impaired spatial learning. Mice heterozygous for an ENU mutation exhibit convulsive and vestibular stress induced seizures. [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 |
|---|
| 4930579C12Rik |
T |
C |
9: 89,034,056 (GRCm39) |
|
noncoding transcript |
Het |
| Acaca |
A |
G |
11: 84,282,345 (GRCm39) |
E2154G |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,380,013 (GRCm39) |
F2056L |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,959,023 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
T |
A |
6: 149,086,622 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,418,366 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,279,904 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,649,496 (GRCm39) |
V495D |
possibly damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,328,191 (GRCm39) |
L207P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,808,946 (GRCm39) |
H101R |
probably benign |
Het |
| Bicc1 |
G |
A |
10: 70,783,730 (GRCm39) |
T387M |
possibly damaging |
Het |
| Champ1 |
A |
C |
8: 13,928,981 (GRCm39) |
K380Q |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,438,005 (GRCm39) |
E523G |
probably benign |
Het |
| Cops6 |
G |
C |
5: 138,159,378 (GRCm39) |
|
probably benign |
Het |
| Cp |
G |
C |
3: 20,020,480 (GRCm39) |
V158L |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,523,231 (GRCm39) |
M52K |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,292,039 (GRCm39) |
F480I |
probably benign |
Het |
| Diaph1 |
C |
A |
18: 38,030,603 (GRCm39) |
E284* |
probably null |
Het |
| Diaph1 |
T |
C |
18: 38,030,633 (GRCm39) |
M274V |
unknown |
Het |
| Dock8 |
G |
A |
19: 25,038,517 (GRCm39) |
V68M |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,068,627 (GRCm39) |
F247L |
possibly damaging |
Het |
| Emc10 |
C |
T |
7: 44,145,863 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,265,712 (GRCm39) |
D369G |
probably benign |
Het |
| Fgr |
A |
T |
4: 132,724,811 (GRCm39) |
D304V |
probably benign |
Het |
| Filip1l |
G |
A |
16: 57,390,399 (GRCm39) |
S91N |
possibly damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,354 (GRCm39) |
S103P |
unknown |
Het |
| Hscb |
A |
G |
5: 110,982,658 (GRCm39) |
L143P |
probably damaging |
Het |
| Hsd11b2 |
A |
T |
8: 106,249,929 (GRCm39) |
M347L |
probably benign |
Het |
| Jrk |
C |
A |
15: 74,579,185 (GRCm39) |
E33D |
possibly damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,098,813 (GRCm39) |
Y123* |
probably null |
Het |
| Lrrc37 |
A |
G |
11: 103,507,057 (GRCm39) |
|
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,203,817 (GRCm39) |
M59R |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,546,381 (GRCm39) |
V260A |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,391,414 (GRCm39) |
V488L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,276,896 (GRCm39) |
N211Y |
probably benign |
Het |
| Ntrk3 |
A |
T |
7: 78,167,254 (GRCm39) |
|
probably null |
Het |
| Or10x4 |
A |
T |
1: 174,218,791 (GRCm39) |
Y52F |
probably benign |
Het |
| Or11h23 |
A |
G |
14: 50,947,900 (GRCm39) |
T38A |
possibly damaging |
Het |
| Or11h23 |
A |
G |
14: 50,948,236 (GRCm39) |
I150V |
probably benign |
Het |
| Or52w1 |
C |
T |
7: 105,017,620 (GRCm39) |
T20I |
probably benign |
Het |
| Otud4 |
A |
T |
8: 80,399,521 (GRCm39) |
Q744L |
possibly damaging |
Het |
| P2ry14 |
A |
T |
3: 59,022,989 (GRCm39) |
I166N |
possibly damaging |
Het |
| Pak2 |
T |
A |
16: 31,840,648 (GRCm39) |
N478Y |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,616,400 (GRCm39) |
D202G |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 57,885,453 (GRCm39) |
|
probably null |
Het |
| Peg3 |
C |
A |
7: 6,720,848 (GRCm39) |
S19I |
possibly damaging |
Het |
| Prim2 |
G |
T |
1: 33,707,974 (GRCm39) |
T40K |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,490 (GRCm39) |
F1737L |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,142,442 (GRCm39) |
N310T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
C |
T |
17: 37,258,092 (GRCm39) |
A86V |
probably damaging |
Het |
| Ror1 |
A |
T |
4: 100,283,135 (GRCm39) |
N400I |
probably benign |
Het |
| Slc38a8 |
C |
T |
8: 120,221,028 (GRCm39) |
G177D |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,786,654 (GRCm39) |
V445A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,768,936 (GRCm39) |
N23S |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,734,957 (GRCm39) |
F74L |
probably benign |
Het |
| Trappc11 |
G |
C |
8: 47,983,766 (GRCm39) |
A42G |
possibly damaging |
Het |
| Trim30d |
T |
C |
7: 104,121,695 (GRCm39) |
K350R |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,750,375 (GRCm39) |
F93S |
probably damaging |
Het |
| Ube2c |
T |
C |
2: 164,619,110 (GRCm39) |
V161A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,219,554 (GRCm39) |
E555G |
possibly damaging |
Het |
| Vmn2r55 |
T |
G |
7: 12,385,791 (GRCm39) |
S730R |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,570 (GRCm39) |
N124K |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,290,016 (GRCm39) |
C517* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,619,031 (GRCm39) |
I2845N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,547,848 (GRCm39) |
V896A |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,792,068 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
G |
A |
3: 127,394,629 (GRCm39) |
M1328I |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,836,774 (GRCm39) |
D686G |
possibly damaging |
Het |
|
| Other mutations in Atp1a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02129:Atp1a3
|
APN |
7 |
24,696,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02736:Atp1a3
|
APN |
7 |
24,679,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Atp1a3
|
APN |
7 |
24,689,901 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02806:Atp1a3
|
APN |
7 |
24,681,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
borah
|
UTSW |
7 |
24,693,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Clonic
|
UTSW |
7 |
24,687,410 (GRCm39) |
missense |
probably benign |
0.37 |
|
Littlewolf
|
UTSW |
7 |
24,681,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Atp1a3
|
UTSW |
7 |
24,688,989 (GRCm39) |
splice site |
probably benign |
|
|
R0254:Atp1a3
|
UTSW |
7 |
24,680,937 (GRCm39) |
splice site |
probably benign |
|
|
R0420:Atp1a3
|
UTSW |
7 |
24,680,052 (GRCm39) |
missense |
probably benign |
|
|
R0437:Atp1a3
|
UTSW |
7 |
24,698,392 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0666:Atp1a3
|
UTSW |
7 |
24,689,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0932:Atp1a3
|
UTSW |
7 |
24,687,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1586:Atp1a3
|
UTSW |
7 |
24,678,808 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1981:Atp1a3
|
UTSW |
7 |
24,700,400 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2105:Atp1a3
|
UTSW |
7 |
24,689,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3076:Atp1a3
|
UTSW |
7 |
24,679,498 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3110:Atp1a3
|
UTSW |
7 |
24,694,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Atp1a3
|
UTSW |
7 |
24,694,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Atp1a3
|
UTSW |
7 |
24,700,355 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4327:Atp1a3
|
UTSW |
7 |
24,687,056 (GRCm39) |
intron |
probably benign |
|
|
R4598:Atp1a3
|
UTSW |
7 |
24,678,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4626:Atp1a3
|
UTSW |
7 |
24,698,193 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4789:Atp1a3
|
UTSW |
7 |
24,698,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Atp1a3
|
UTSW |
7 |
24,694,051 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5243:Atp1a3
|
UTSW |
7 |
24,693,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Atp1a3
|
UTSW |
7 |
24,678,294 (GRCm39) |
intron |
probably benign |
|
|
R5704:Atp1a3
|
UTSW |
7 |
24,696,736 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5870:Atp1a3
|
UTSW |
7 |
24,697,003 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5934:Atp1a3
|
UTSW |
7 |
24,678,299 (GRCm39) |
intron |
probably benign |
|
|
R6183:Atp1a3
|
UTSW |
7 |
24,681,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Atp1a3
|
UTSW |
7 |
24,678,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Atp1a3
|
UTSW |
7 |
24,697,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Atp1a3
|
UTSW |
7 |
24,678,390 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7229:Atp1a3
|
UTSW |
7 |
24,687,410 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7239:Atp1a3
|
UTSW |
7 |
24,700,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7301:Atp1a3
|
UTSW |
7 |
24,689,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7330:Atp1a3
|
UTSW |
7 |
24,700,577 (GRCm39) |
nonsense |
probably null |
|
|
R7348:Atp1a3
|
UTSW |
7 |
24,678,251 (GRCm39) |
missense |
unknown |
|
|
R7432:Atp1a3
|
UTSW |
7 |
24,705,300 (GRCm39) |
unclassified |
probably benign |
|
|
R7490:Atp1a3
|
UTSW |
7 |
24,686,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Atp1a3
|
UTSW |
7 |
24,680,991 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7860:Atp1a3
|
UTSW |
7 |
24,681,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Atp1a3
|
UTSW |
7 |
24,700,573 (GRCm39) |
missense |
unknown |
|
|
R7993:Atp1a3
|
UTSW |
7 |
24,700,406 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8002:Atp1a3
|
UTSW |
7 |
24,700,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Atp1a3
|
UTSW |
7 |
24,680,070 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8430:Atp1a3
|
UTSW |
7 |
24,698,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8780:Atp1a3
|
UTSW |
7 |
24,680,979 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8837:Atp1a3
|
UTSW |
7 |
24,677,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9031:Atp1a3
|
UTSW |
7 |
24,689,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9220:Atp1a3
|
UTSW |
7 |
24,696,625 (GRCm39) |
nonsense |
probably null |
|
|
R9259:Atp1a3
|
UTSW |
7 |
24,696,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9600:Atp1a3
|
UTSW |
7 |
24,700,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Atp1a3
|
UTSW |
7 |
24,698,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Atp1a3
|
UTSW |
7 |
24,679,544 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTGAGAACCAACTCTTCAG -3'
(R):5'- TAACCTTATCATGCCGGTCC -3'
Sequencing Primer
(F):5'- ACTAGGGATCTAGGTCCAAGCTTC -3'
(R):5'- ATGCCGGTCCCTCCTCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation