Incidental Mutation 'R6126:Atp8a2'
| ID |
487417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8a2
|
| Ensembl Gene |
ENSMUSG00000021983 |
| Gene Name |
ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 |
| Synonyms |
Ib, wl, agil |
| MMRRC Submission |
044273-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.362)
|
| Stock # |
R6126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59884980-60324363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 60281775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 126
(M126I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080368]
[ENSMUST00000131670]
[ENSMUST00000145071]
|
| AlphaFold |
P98200 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080368
AA Change: M126I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: M126I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
14 |
80 |
2.3e-27 |
PFAM |
|
Pfam:E1-E2_ATPase
|
85 |
348 |
6.7e-15 |
PFAM |
|
Pfam:HAD
|
385 |
790 |
3.2e-22 |
PFAM |
|
Pfam:Cation_ATPase
|
465 |
564 |
3.2e-14 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
807 |
1059 |
2.8e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131670
AA Change: M145I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119395
Gene: ENSMUSG00000021983
AA Change: M145I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
40 |
148 |
7e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145071
AA Change: M126I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115592
Gene: ENSMUSG00000021983
AA Change: M126I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
21 |
129 |
1e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
93% (51/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,963,881 (GRCm39) |
R111H |
probably damaging |
Het |
| Alk |
G |
A |
17: 72,182,037 (GRCm39) |
L1329F |
possibly damaging |
Het |
| Apoh |
A |
T |
11: 108,288,199 (GRCm39) |
I106F |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,160,143 (GRCm39) |
R412H |
possibly damaging |
Het |
| Chd7 |
T |
C |
4: 8,826,482 (GRCm39) |
S949P |
probably damaging |
Het |
| Clec11a |
C |
T |
7: 43,954,345 (GRCm39) |
A203T |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,267,264 (GRCm39) |
I5080K |
probably damaging |
Het |
| Ecd |
T |
C |
14: 20,388,493 (GRCm39) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,014,318 (GRCm39) |
K638* |
probably null |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,141,443 (GRCm39) |
I272T |
probably damaging |
Het |
| Foxd2 |
C |
A |
4: 114,765,702 (GRCm39) |
G106V |
unknown |
Het |
| Ggcx |
A |
T |
6: 72,394,966 (GRCm39) |
M115L |
possibly damaging |
Het |
| Gm21976 |
G |
A |
13: 98,423,821 (GRCm39) |
R72H |
unknown |
Het |
| Hsf2 |
T |
C |
10: 57,372,013 (GRCm39) |
V38A |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,505,274 (GRCm39) |
Y8C |
possibly damaging |
Het |
| Il31ra |
A |
C |
13: 112,666,908 (GRCm39) |
L390R |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,947,621 (GRCm39) |
Y1614N |
probably damaging |
Het |
| Mef2b |
C |
A |
8: 70,619,526 (GRCm39) |
T267K |
probably benign |
Het |
| Mfsd8 |
A |
G |
3: 40,786,446 (GRCm39) |
|
probably null |
Het |
| Mnx1 |
G |
T |
5: 29,683,110 (GRCm39) |
A55E |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,354,969 (GRCm39) |
I949F |
possibly damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Ntpcr |
G |
A |
8: 126,462,626 (GRCm39) |
|
probably null |
Het |
| Or12j3 |
T |
G |
7: 139,953,166 (GRCm39) |
Y119S |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,457 (GRCm39) |
|
probably benign |
Het |
| Panx1 |
T |
A |
9: 14,919,086 (GRCm39) |
I258F |
probably benign |
Het |
| Pask |
T |
C |
1: 93,242,081 (GRCm39) |
Y1212C |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,331,190 (GRCm39) |
K265R |
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,508,673 (GRCm39) |
H844R |
probably benign |
Het |
| Ppp6r1 |
T |
C |
7: 4,646,376 (GRCm39) |
T136A |
possibly damaging |
Het |
| Rab35 |
A |
G |
5: 115,783,767 (GRCm39) |
N185D |
probably benign |
Het |
| Rdh1 |
A |
T |
10: 127,599,083 (GRCm39) |
D188V |
probably damaging |
Het |
| Rimbp3 |
A |
T |
16: 17,030,140 (GRCm39) |
D1188V |
probably benign |
Het |
| Robo2 |
C |
T |
16: 73,717,570 (GRCm39) |
G100S |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
C |
7: 28,775,664 (GRCm39) |
D2282E |
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,588,015 (GRCm39) |
L2642P |
probably damaging |
Het |
| Sez6 |
A |
T |
11: 77,864,630 (GRCm39) |
Y530F |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,077,116 (GRCm39) |
Y1205C |
possibly damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,203,247 (GRCm39) |
H49L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,677,280 (GRCm39) |
V1503D |
probably damaging |
Het |
| Spata31e3 |
G |
T |
13: 50,400,326 (GRCm39) |
Q667K |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,063,591 (GRCm39) |
N1007S |
probably benign |
Het |
| Tpk1 |
A |
T |
6: 43,400,594 (GRCm39) |
C143S |
probably damaging |
Het |
| Wdr20 |
A |
T |
12: 110,760,536 (GRCm39) |
H474L |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,167,174 (GRCm39) |
|
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,808,497 (GRCm39) |
T1516A |
probably benign |
Het |
| Zfp462 |
G |
A |
4: 55,023,573 (GRCm39) |
A2121T |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Atp8a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01289:Atp8a2
|
APN |
14 |
59,928,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01505:Atp8a2
|
APN |
14 |
60,265,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01614:Atp8a2
|
APN |
14 |
60,282,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01621:Atp8a2
|
APN |
14 |
60,253,317 (GRCm39) |
splice site |
probably benign |
|
|
IGL01634:Atp8a2
|
APN |
14 |
60,235,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01672:Atp8a2
|
APN |
14 |
59,928,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01898:Atp8a2
|
APN |
14 |
60,260,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01945:Atp8a2
|
APN |
14 |
60,263,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02006:Atp8a2
|
APN |
14 |
60,094,497 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02089:Atp8a2
|
APN |
14 |
60,264,369 (GRCm39) |
splice site |
probably null |
|
|
IGL02211:Atp8a2
|
APN |
14 |
60,265,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02283:Atp8a2
|
APN |
14 |
60,254,248 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02337:Atp8a2
|
APN |
14 |
60,235,451 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02571:Atp8a2
|
APN |
14 |
60,249,907 (GRCm39) |
splice site |
probably benign |
|
|
IGL02795:Atp8a2
|
APN |
14 |
60,271,191 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02874:Atp8a2
|
APN |
14 |
60,039,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02999:Atp8a2
|
APN |
14 |
60,162,571 (GRCm39) |
nonsense |
probably null |
|
|
IGL03307:Atp8a2
|
APN |
14 |
60,253,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03345:Atp8a2
|
APN |
14 |
60,011,460 (GRCm39) |
missense |
probably benign |
|
|
PIT4431001:Atp8a2
|
UTSW |
14 |
59,892,075 (GRCm39) |
missense |
probably benign |
|
|
R0334:Atp8a2
|
UTSW |
14 |
59,928,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0368:Atp8a2
|
UTSW |
14 |
60,097,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Atp8a2
|
UTSW |
14 |
60,011,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0684:Atp8a2
|
UTSW |
14 |
60,260,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0755:Atp8a2
|
UTSW |
14 |
60,247,330 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0853:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0908:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0991:Atp8a2
|
UTSW |
14 |
60,031,378 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1025:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1190:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1387:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1426:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1442:Atp8a2
|
UTSW |
14 |
60,097,772 (GRCm39) |
splice site |
probably benign |
|
|
R1472:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1538:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1573:Atp8a2
|
UTSW |
14 |
60,097,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1620:Atp8a2
|
UTSW |
14 |
60,028,632 (GRCm39) |
missense |
probably benign |
|
|
R1661:Atp8a2
|
UTSW |
14 |
60,097,635 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1673:Atp8a2
|
UTSW |
14 |
60,028,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1749:Atp8a2
|
UTSW |
14 |
60,097,623 (GRCm39) |
nonsense |
probably null |
|
|
R1796:Atp8a2
|
UTSW |
14 |
60,258,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1815:Atp8a2
|
UTSW |
14 |
60,324,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Atp8a2
|
UTSW |
14 |
60,243,815 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1935:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1936:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1937:Atp8a2
|
UTSW |
14 |
60,097,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2416:Atp8a2
|
UTSW |
14 |
60,162,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2760:Atp8a2
|
UTSW |
14 |
60,097,641 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3029:Atp8a2
|
UTSW |
14 |
59,928,914 (GRCm39) |
frame shift |
probably null |
|
|
R3621:Atp8a2
|
UTSW |
14 |
60,263,587 (GRCm39) |
splice site |
probably null |
|
|
R3768:Atp8a2
|
UTSW |
14 |
60,281,785 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3784:Atp8a2
|
UTSW |
14 |
60,011,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3896:Atp8a2
|
UTSW |
14 |
60,263,589 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4009:Atp8a2
|
UTSW |
14 |
60,265,434 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4591:Atp8a2
|
UTSW |
14 |
59,892,078 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4866:Atp8a2
|
UTSW |
14 |
59,928,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Atp8a2
|
UTSW |
14 |
60,245,918 (GRCm39) |
nonsense |
probably null |
|
|
R5059:Atp8a2
|
UTSW |
14 |
59,928,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5529:Atp8a2
|
UTSW |
14 |
60,031,314 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5788:Atp8a2
|
UTSW |
14 |
60,258,242 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6295:Atp8a2
|
UTSW |
14 |
60,249,848 (GRCm39) |
nonsense |
probably null |
|
|
R6393:Atp8a2
|
UTSW |
14 |
60,011,204 (GRCm39) |
nonsense |
probably null |
|
|
R6454:Atp8a2
|
UTSW |
14 |
60,245,948 (GRCm39) |
splice site |
probably null |
|
|
R6651:Atp8a2
|
UTSW |
14 |
60,011,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6763:Atp8a2
|
UTSW |
14 |
60,245,857 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6767:Atp8a2
|
UTSW |
14 |
60,284,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Atp8a2
|
UTSW |
14 |
60,249,859 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7032:Atp8a2
|
UTSW |
14 |
60,255,289 (GRCm39) |
splice site |
probably null |
|
|
R7243:Atp8a2
|
UTSW |
14 |
59,885,291 (GRCm39) |
missense |
probably benign |
|
|
R7352:Atp8a2
|
UTSW |
14 |
60,028,653 (GRCm39) |
missense |
probably benign |
|
|
R7355:Atp8a2
|
UTSW |
14 |
60,282,453 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7382:Atp8a2
|
UTSW |
14 |
59,892,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7451:Atp8a2
|
UTSW |
14 |
60,028,630 (GRCm39) |
missense |
probably null |
0.00 |
|
R7483:Atp8a2
|
UTSW |
14 |
60,245,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7516:Atp8a2
|
UTSW |
14 |
60,094,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Atp8a2
|
UTSW |
14 |
60,011,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8116:Atp8a2
|
UTSW |
14 |
60,263,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Atp8a2
|
UTSW |
14 |
60,283,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8504:Atp8a2
|
UTSW |
14 |
59,885,366 (GRCm39) |
nonsense |
probably null |
|
|
R8516:Atp8a2
|
UTSW |
14 |
59,928,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8552:Atp8a2
|
UTSW |
14 |
60,011,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8852:Atp8a2
|
UTSW |
14 |
60,162,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9367:Atp8a2
|
UTSW |
14 |
60,249,827 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9469:Atp8a2
|
UTSW |
14 |
60,028,668 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9691:Atp8a2
|
UTSW |
14 |
60,245,829 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9709:Atp8a2
|
UTSW |
14 |
60,271,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Atp8a2
|
UTSW |
14 |
60,265,419 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Atp8a2
|
UTSW |
14 |
60,243,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCATGGGAAAGCAGCTTG -3'
(R):5'- TGCGTGTTCCCACATGTATG -3'
Sequencing Primer
(F):5'- CAGCTTGCATGGGGAAATTC -3'
(R):5'- CGGCCCATTTGTGCATGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation