Incidental Mutation 'R4201:Atp1b2'
| ID |
318761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp1b2
|
| Ensembl Gene |
ENSMUSG00000041329 |
| Gene Name |
ATPase, Na+/K+ transporting, beta 2 polypeptide |
| Synonyms |
Amog, Atpb-2 |
| MMRRC Submission |
041031-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R4201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69490562-69496768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69494295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 66
(V66A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047889]
[ENSMUST00000138694]
|
| AlphaFold |
P14231 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047889
AA Change: V66A
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000047353
Gene: ENSMUSG00000041329
AA Change: V66A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_K-ATPase
|
7 |
283 |
1.1e-113 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130394
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138694
|
| SMART Domains |
Protein: ENSMUSP00000116290
Gene: ENSMUSG00000041329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_K-ATPase
|
1 |
130 |
1.3e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144425
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153198
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| 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 Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for a null mutation exhibit lack of motor coordination, tremors, limb paralysis, enlarged ventricles, photoreceptor degeneration, vacuoles adjoining capillaries of brain stem, thalamus, striatum, and spinal cord, and death at 17-18 days of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
G |
18: 6,623,952 (GRCm39) |
|
probably null |
Het |
| Als2 |
A |
T |
1: 59,219,313 (GRCm39) |
D1212E |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,495,530 (GRCm39) |
S1167P |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bag3 |
C |
A |
7: 128,147,881 (GRCm39) |
L499I |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,310,981 (GRCm39) |
D751G |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,359,587 (GRCm39) |
Y145C |
probably benign |
Het |
| Ccdc172 |
G |
A |
19: 58,525,017 (GRCm39) |
R158H |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cd9 |
T |
C |
6: 125,439,357 (GRCm39) |
D125G |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,243,834 (GRCm39) |
I1493V |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,359 (GRCm39) |
D57G |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,972,238 (GRCm39) |
R1201W |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 30,984,227 (GRCm39) |
V3976A |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,930,394 (GRCm39) |
D3317G |
possibly damaging |
Het |
| Dnmt3b |
G |
T |
2: 153,512,337 (GRCm39) |
E353* |
probably null |
Het |
| Gch1 |
T |
C |
14: 47,393,260 (GRCm39) |
S241G |
probably benign |
Het |
| Gpr22 |
A |
T |
12: 31,758,912 (GRCm39) |
Y366* |
probably null |
Het |
| Gse1 |
A |
T |
8: 121,294,503 (GRCm39) |
M277L |
probably benign |
Het |
| Kcnt2 |
G |
A |
1: 140,353,070 (GRCm39) |
V260I |
probably damaging |
Het |
| Nbas |
G |
T |
12: 13,424,827 (GRCm39) |
C1022F |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,497 (GRCm39) |
L274H |
probably damaging |
Het |
| Parp4 |
C |
A |
14: 56,829,848 (GRCm39) |
T274K |
possibly damaging |
Het |
| Pgs1 |
A |
G |
11: 117,893,362 (GRCm39) |
S230G |
probably damaging |
Het |
| Plin4 |
T |
G |
17: 56,411,338 (GRCm39) |
T898P |
probably damaging |
Het |
| Ptprj |
A |
C |
2: 90,293,439 (GRCm39) |
V548G |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,048,791 (GRCm39) |
I139M |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,297,870 (GRCm39) |
D1142E |
probably benign |
Het |
| Tbccd1 |
A |
G |
16: 22,644,698 (GRCm39) |
V226A |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmed7 |
A |
G |
18: 46,726,314 (GRCm39) |
|
probably null |
Het |
| Tnfrsf23 |
A |
T |
7: 143,223,791 (GRCm39) |
C137S |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
|
| Other mutations in Atp1b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02043:Atp1b2
|
APN |
11 |
69,496,102 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0190:Atp1b2
|
UTSW |
11 |
69,492,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Atp1b2
|
UTSW |
11 |
69,493,309 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1553:Atp1b2
|
UTSW |
11 |
69,493,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3085:Atp1b2
|
UTSW |
11 |
69,493,705 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3699:Atp1b2
|
UTSW |
11 |
69,496,095 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3916:Atp1b2
|
UTSW |
11 |
69,493,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3917:Atp1b2
|
UTSW |
11 |
69,493,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4627:Atp1b2
|
UTSW |
11 |
69,492,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4776:Atp1b2
|
UTSW |
11 |
69,492,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5115:Atp1b2
|
UTSW |
11 |
69,494,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5342:Atp1b2
|
UTSW |
11 |
69,493,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5457:Atp1b2
|
UTSW |
11 |
69,493,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6618:Atp1b2
|
UTSW |
11 |
69,494,289 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9084:Atp1b2
|
UTSW |
11 |
69,492,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Atp1b2
|
UTSW |
11 |
69,492,141 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCACATGACTCCCGGCTG -3'
(R):5'- GAAGGCTCTAAGATATCCTGTCGC -3'
Sequencing Primer
(F):5'- CTGCAGGGCATGGGAAG -3'
(R):5'- AAGATATCCTGTCGCTCCTTGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation