Incidental Mutation 'R6618:Atp1b2'
| ID |
524218 |
| 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 |
044741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R6618 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69490562-69496768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69494289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 68
(D68G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047889]
[ENSMUST00000138694]
|
| AlphaFold |
P14231 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047889
AA Change: D68G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047353
Gene: ENSMUSG00000041329
AA Change: D68G
| 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
|
| Meta Mutation Damage Score |
0.3588 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Barx2 |
G |
A |
9: 31,758,168 (GRCm39) |
L257F |
probably benign |
Het |
| Bbx |
C |
G |
16: 50,086,626 (GRCm39) |
W90S |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,728,808 (GRCm39) |
D588V |
probably damaging |
Het |
| Caskin2 |
C |
T |
11: 115,690,855 (GRCm39) |
M1188I |
possibly damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,950,708 (GRCm39) |
I1651N |
probably damaging |
Het |
| Cimip2a |
C |
A |
2: 25,110,635 (GRCm39) |
L148M |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,839,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,209,069 (GRCm39) |
|
probably null |
Het |
| Fam83h |
T |
C |
15: 75,875,360 (GRCm39) |
D659G |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,126 (GRCm39) |
T477A |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,945,528 (GRCm39) |
R589L |
probably benign |
Het |
| Helz |
A |
G |
11: 107,489,976 (GRCm39) |
T144A |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,339,971 (GRCm39) |
V258D |
probably damaging |
Het |
| Isoc2a |
A |
T |
7: 4,898,325 (GRCm39) |
I183F |
probably benign |
Het |
| Kat2a |
G |
T |
11: 100,603,196 (GRCm39) |
|
probably benign |
Het |
| Klf9 |
A |
G |
19: 23,142,235 (GRCm39) |
M232V |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,377,973 (GRCm39) |
S147R |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,781 (GRCm39) |
F337L |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,240,708 (GRCm39) |
N1466I |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,919 (GRCm39) |
|
probably null |
Het |
| Pigs |
T |
C |
11: 78,232,056 (GRCm39) |
L396P |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,226,886 (GRCm39) |
R624Q |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,121,302 (GRCm39) |
S269P |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,875 (GRCm39) |
I505K |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,440,523 (GRCm39) |
D777E |
probably benign |
Het |
| Rdh14 |
A |
G |
12: 10,445,123 (GRCm39) |
I325V |
probably benign |
Het |
| Rpn2 |
T |
A |
2: 157,163,781 (GRCm39) |
H624Q |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,381,394 (GRCm39) |
S50N |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,683,772 (GRCm39) |
|
probably null |
Het |
| Slc49a3 |
G |
T |
5: 108,590,964 (GRCm39) |
T400K |
probably benign |
Het |
| Smim24 |
A |
G |
10: 81,229,966 (GRCm39) |
N27S |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,162,444 (GRCm39) |
D550G |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,322,349 (GRCm39) |
L23* |
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,694,844 (GRCm39) |
K703N |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,121,477 (GRCm39) |
S139P |
probably benign |
Homo |
|
| 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 |
|
R4201:Atp1b2
|
UTSW |
11 |
69,494,295 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
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'- AGCAATCTCCTGTGGCATCTG -3'
(R):5'- TATCCCCGTACACAGCTTGAG -3'
Sequencing Primer
(F):5'- ATCACATGACTCCCGGCTG -3'
(R):5'- CCCGTACACAGCTTGAGAGGAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation