Incidental Mutation 'R6812:Atp1a2'
| ID |
533830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1a2
|
| Ensembl Gene |
ENSMUSG00000007097 |
| Gene Name |
ATPase, Na+/K+ transporting, alpha 2 polypeptide |
| Synonyms |
Atpa-3 |
| MMRRC Submission |
044924-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172099276-172125631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 172112444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 515
(C515S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085913]
[ENSMUST00000097464]
[ENSMUST00000139528]
|
| AlphaFold |
Q6PIE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085913
AA Change: C515S
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000083077
Gene: ENSMUSG00000007097
AA Change: C515S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
40 |
114 |
5.28e-19 |
SMART |
|
Pfam:E1-E2_ATPase
|
132 |
363 |
2.5e-59 |
PFAM |
|
Pfam:Hydrolase
|
368 |
726 |
4.5e-19 |
PFAM |
|
Pfam:HAD
|
371 |
723 |
3.2e-18 |
PFAM |
|
Pfam:Cation_ATPase
|
424 |
518 |
1.9e-25 |
PFAM |
|
Pfam:Cation_ATPase_C
|
796 |
1005 |
1.4e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097464
AA Change: C515S
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095072
Gene: ENSMUSG00000007097
AA Change: C515S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
40 |
114 |
5.28e-19 |
SMART |
|
Pfam:E1-E2_ATPase
|
133 |
364 |
1.9e-63 |
PFAM |
|
Pfam:Hydrolase
|
368 |
726 |
2e-32 |
PFAM |
|
Pfam:HAD
|
371 |
723 |
1.7e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
424 |
518 |
1.3e-26 |
PFAM |
|
Pfam:Cation_ATPase_C
|
796 |
947 |
3.2e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139528
|
| SMART Domains |
Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
19 |
84 |
3.66e1 |
SMART |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
IG
|
106 |
222 |
2.3e-3 |
SMART |
|
IG
|
246 |
370 |
9.49e-5 |
SMART |
|
IG
|
382 |
508 |
3.59e-5 |
SMART |
|
transmembrane domain
|
515 |
537 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6221 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 97.4%
|
| Validation Efficiency |
100% (56/56) |
| 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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants die immediately after birth from breathing failure, lack spontaneous respiratory rhythm activity, have elevated levels of extracellular GABA in the brain, and have abnormal chloride homeostasis in brainstem neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
C |
T |
16: 56,616,161 (GRCm39) |
|
probably benign |
Het |
| Ak9 |
A |
T |
10: 41,243,163 (GRCm39) |
M686L |
unknown |
Het |
| Ap3b1 |
A |
T |
13: 94,616,369 (GRCm39) |
T757S |
unknown |
Het |
| Apob |
A |
T |
12: 8,033,062 (GRCm39) |
K139N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,094,037 (GRCm39) |
E270G |
possibly damaging |
Het |
| Bicd1 |
T |
C |
6: 149,311,035 (GRCm39) |
Y37H |
probably damaging |
Het |
| Birc2 |
T |
G |
9: 7,854,418 (GRCm39) |
D424A |
probably damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,412,469 (GRCm39) |
F324L |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,623,029 (GRCm39) |
I409N |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,972,335 (GRCm39) |
I1233N |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,735,268 (GRCm39) |
S739P |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,599,863 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
T |
C |
6: 148,982,630 (GRCm39) |
|
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,795,120 (GRCm39) |
S464G |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,872,155 (GRCm39) |
V2692M |
probably damaging |
Het |
| Dvl2 |
T |
C |
11: 69,891,821 (GRCm39) |
Y55H |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,830,687 (GRCm39) |
Q140H |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,467 (GRCm39) |
V460M |
probably benign |
Het |
| Etv2 |
G |
T |
7: 30,333,426 (GRCm39) |
C265* |
probably null |
Het |
| F12 |
T |
C |
13: 55,569,658 (GRCm39) |
E146G |
probably damaging |
Het |
| Fdps |
C |
A |
3: 89,001,783 (GRCm39) |
E301D |
possibly damaging |
Het |
| Fsd2 |
G |
T |
7: 81,184,837 (GRCm39) |
H686Q |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,032,802 (GRCm39) |
S262P |
probably damaging |
Het |
| Gm20730 |
A |
G |
6: 43,058,722 (GRCm39) |
V30A |
probably benign |
Het |
| Gpr68 |
C |
A |
12: 100,844,670 (GRCm39) |
E291D |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,674,993 (GRCm39) |
V1006A |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,431,891 (GRCm39) |
|
probably null |
Het |
| Kif2a |
A |
T |
13: 107,106,259 (GRCm39) |
D570E |
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,414 (GRCm39) |
A365D |
probably damaging |
Het |
| Lias |
T |
A |
5: 65,566,132 (GRCm39) |
V373E |
possibly damaging |
Het |
| Mpl |
A |
G |
4: 118,312,461 (GRCm39) |
V169A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,977,228 (GRCm39) |
I319N |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,668,818 (GRCm39) |
K315I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,340,108 (GRCm39) |
D803G |
probably damaging |
Het |
| Obi1 |
A |
G |
14: 104,747,868 (GRCm39) |
V40A |
unknown |
Het |
| Or5b119 |
T |
C |
19: 13,456,975 (GRCm39) |
T196A |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,178,701 (GRCm39) |
S536P |
possibly damaging |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Prkaa2 |
T |
A |
4: 104,904,349 (GRCm39) |
T243S |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,103,153 (GRCm39) |
V877D |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,466,468 (GRCm39) |
|
probably null |
Het |
| Rbm48 |
A |
G |
5: 3,646,105 (GRCm39) |
V33A |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,699,544 (GRCm39) |
R1347L |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,816,180 (GRCm39) |
F124L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,777,251 (GRCm39) |
G302D |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,314,819 (GRCm39) |
N314S |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,122,067 (GRCm39) |
R907W |
probably damaging |
Het |
| Sox5 |
C |
T |
6: 144,062,169 (GRCm39) |
|
probably null |
Het |
| Tmc1 |
A |
C |
19: 20,878,225 (GRCm39) |
L90R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,249,130 (GRCm39) |
V201A |
probably benign |
Het |
| Uvrag |
T |
A |
7: 98,537,689 (GRCm39) |
H502L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,434,859 (GRCm39) |
I1760N |
probably damaging |
Het |
| Zfp318 |
G |
GAAGAAT |
17: 46,723,468 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,209,307 (GRCm39) |
D61G |
possibly damaging |
Het |
|
| Other mutations in Atp1a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Atp1a2
|
APN |
1 |
172,103,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00954:Atp1a2
|
APN |
1 |
172,118,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01083:Atp1a2
|
APN |
1 |
172,112,186 (GRCm39) |
missense |
probably benign |
|
|
IGL01372:Atp1a2
|
APN |
1 |
172,106,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01762:Atp1a2
|
APN |
1 |
172,112,480 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01896:Atp1a2
|
APN |
1 |
172,113,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01942:Atp1a2
|
APN |
1 |
172,113,876 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01944:Atp1a2
|
APN |
1 |
172,103,754 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02219:Atp1a2
|
APN |
1 |
172,107,298 (GRCm39) |
nonsense |
probably null |
|
|
IGL02219:Atp1a2
|
APN |
1 |
172,107,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02304:Atp1a2
|
APN |
1 |
172,116,920 (GRCm39) |
missense |
probably benign |
|
|
IGL02507:Atp1a2
|
APN |
1 |
172,113,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02557:Atp1a2
|
APN |
1 |
172,106,218 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02632:Atp1a2
|
APN |
1 |
172,108,181 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03053:Atp1a2
|
APN |
1 |
172,105,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03104:Atp1a2
|
APN |
1 |
172,120,934 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03161:Atp1a2
|
APN |
1 |
172,106,429 (GRCm39) |
intron |
probably benign |
|
|
IGL03218:Atp1a2
|
APN |
1 |
172,116,870 (GRCm39) |
missense |
probably null |
0.82 |
|
PIT4151001:Atp1a2
|
UTSW |
1 |
172,118,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4520001:Atp1a2
|
UTSW |
1 |
172,106,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0121:Atp1a2
|
UTSW |
1 |
172,116,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0630:Atp1a2
|
UTSW |
1 |
172,118,842 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0682:Atp1a2
|
UTSW |
1 |
172,112,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0755:Atp1a2
|
UTSW |
1 |
172,116,948 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1413:Atp1a2
|
UTSW |
1 |
172,106,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1680:Atp1a2
|
UTSW |
1 |
172,106,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2094:Atp1a2
|
UTSW |
1 |
172,115,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3714:Atp1a2
|
UTSW |
1 |
172,106,551 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4573:Atp1a2
|
UTSW |
1 |
172,106,204 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4928:Atp1a2
|
UTSW |
1 |
172,105,954 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4953:Atp1a2
|
UTSW |
1 |
172,119,009 (GRCm39) |
intron |
probably benign |
|
|
R5014:Atp1a2
|
UTSW |
1 |
172,112,438 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5080:Atp1a2
|
UTSW |
1 |
172,112,012 (GRCm39) |
intron |
probably benign |
|
|
R5129:Atp1a2
|
UTSW |
1 |
172,103,522 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5360:Atp1a2
|
UTSW |
1 |
172,106,436 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5619:Atp1a2
|
UTSW |
1 |
172,106,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5622:Atp1a2
|
UTSW |
1 |
172,118,994 (GRCm39) |
intron |
probably benign |
|
|
R5718:Atp1a2
|
UTSW |
1 |
172,107,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Atp1a2
|
UTSW |
1 |
172,120,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5909:Atp1a2
|
UTSW |
1 |
172,114,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Atp1a2
|
UTSW |
1 |
172,125,579 (GRCm39) |
intron |
probably benign |
|
|
R6145:Atp1a2
|
UTSW |
1 |
172,114,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Atp1a2
|
UTSW |
1 |
172,106,459 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6315:Atp1a2
|
UTSW |
1 |
172,116,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6317:Atp1a2
|
UTSW |
1 |
172,116,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6319:Atp1a2
|
UTSW |
1 |
172,116,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6323:Atp1a2
|
UTSW |
1 |
172,116,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6324:Atp1a2
|
UTSW |
1 |
172,116,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6374:Atp1a2
|
UTSW |
1 |
172,116,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Atp1a2
|
UTSW |
1 |
172,112,181 (GRCm39) |
missense |
probably benign |
|
|
R7025:Atp1a2
|
UTSW |
1 |
172,112,117 (GRCm39) |
nonsense |
probably null |
|
|
R7194:Atp1a2
|
UTSW |
1 |
172,108,194 (GRCm39) |
nonsense |
probably null |
|
|
R7459:Atp1a2
|
UTSW |
1 |
172,114,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7791:Atp1a2
|
UTSW |
1 |
172,103,782 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7889:Atp1a2
|
UTSW |
1 |
172,105,631 (GRCm39) |
splice site |
probably null |
|
|
R7993:Atp1a2
|
UTSW |
1 |
172,118,878 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8183:Atp1a2
|
UTSW |
1 |
172,116,918 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8434:Atp1a2
|
UTSW |
1 |
172,112,179 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8712:Atp1a2
|
UTSW |
1 |
172,103,547 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8724:Atp1a2
|
UTSW |
1 |
172,106,945 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8887:Atp1a2
|
UTSW |
1 |
172,113,222 (GRCm39) |
missense |
probably null |
0.02 |
|
R8965:Atp1a2
|
UTSW |
1 |
172,107,612 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9322:Atp1a2
|
UTSW |
1 |
172,107,625 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9383:Atp1a2
|
UTSW |
1 |
172,107,334 (GRCm39) |
missense |
probably benign |
|
|
R9451:Atp1a2
|
UTSW |
1 |
172,103,494 (GRCm39) |
missense |
probably benign |
|
|
R9485:Atp1a2
|
UTSW |
1 |
172,105,822 (GRCm39) |
makesense |
probably null |
|
|
R9727:Atp1a2
|
UTSW |
1 |
172,118,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Atp1a2
|
UTSW |
1 |
172,107,321 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1177:Atp1a2
|
UTSW |
1 |
172,114,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCAGGTTCAGCTGACAG -3'
(R):5'- TTTCCTTCTAAACAGCTGCTATCAG -3'
Sequencing Primer
(F):5'- TTCAGCTGACAGAAGCCTG -3'
(R):5'- GCTGCTATCAGACCCTGAGCTAAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation