Incidental Mutation 'R8061:Atp8b2'
| ID |
642062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b2
|
| Ensembl Gene |
ENSMUSG00000060671 |
| Gene Name |
ATPase, class I, type 8B, member 2 |
| Synonyms |
Id |
| MMRRC Submission |
067497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R8061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 89853527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000166502]
[ENSMUST00000168276]
[ENSMUST00000170739]
|
| AlphaFold |
P98199 |
| Predicted Effect |
silent
Transcript: ENSMUST00000069805
|
| SMART Domains |
Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
96 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
103 |
374 |
5.6e-18 |
PFAM |
|
Pfam:HAD
|
408 |
842 |
1.3e-17 |
PFAM |
|
Pfam:Hydrolase_like2
|
491 |
590 |
1e-11 |
PFAM |
|
Pfam:Hydrolase
|
590 |
845 |
7.9e-8 |
PFAM |
|
low complexity region
|
1133 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000107396
|
| SMART Domains |
Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
15 |
81 |
1.3e-29 |
PFAM |
|
Pfam:E1-E2_ATPase
|
81 |
351 |
2.7e-9 |
PFAM |
|
Pfam:HAD
|
389 |
847 |
1.5e-17 |
PFAM |
|
Pfam:Cation_ATPase
|
472 |
571 |
4.3e-12 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
864 |
1118 |
2e-84 |
PFAM |
|
low complexity region
|
1138 |
1152 |
N/A |
INTRINSIC |
|
low complexity region
|
1172 |
1195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166502
|
| SMART Domains |
Protein: ENSMUSP00000132201
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
2 |
95 |
5e-7 |
SMART |
|
low complexity region
|
100 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000168276
|
| SMART Domains |
Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
77 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
84 |
355 |
2.5e-18 |
PFAM |
|
Pfam:HAD
|
389 |
823 |
7.9e-18 |
PFAM |
|
Pfam:Hydrolase_like2
|
472 |
571 |
3.6e-12 |
PFAM |
|
Pfam:Hydrolase
|
571 |
826 |
6.5e-8 |
PFAM |
|
low complexity region
|
1114 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170739
|
| SMART Domains |
Protein: ENSMUSP00000127720
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_like2
|
1 |
82 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000171941
|
| SMART Domains |
Protein: ENSMUSP00000130545
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAD
|
2 |
158 |
3.3e-8 |
PFAM |
|
Pfam:Hydrolase_3
|
124 |
167 |
1.7e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.1577 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (70/70) |
| 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 aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
G |
A |
5: 115,255,710 (GRCm39) |
R42C |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,263,411 (GRCm39) |
R338C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,490,408 (GRCm39) |
E1008G |
probably damaging |
Het |
| Art5 |
A |
T |
7: 101,747,456 (GRCm39) |
Y108N |
possibly damaging |
Het |
| As3mt |
G |
A |
19: 46,728,982 (GRCm39) |
C369Y |
probably damaging |
Het |
| Asb3 |
A |
G |
11: 30,948,447 (GRCm39) |
N41S |
probably damaging |
Het |
| Astn1 |
G |
A |
1: 158,331,920 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,300 (GRCm39) |
M1770K |
possibly damaging |
Het |
| Cfap300 |
A |
G |
9: 8,042,672 (GRCm39) |
W37R |
probably damaging |
Het |
| Chrm1 |
T |
C |
19: 8,656,518 (GRCm39) |
Y408H |
possibly damaging |
Het |
| Chst2 |
T |
C |
9: 95,287,224 (GRCm39) |
H374R |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,491,655 (GRCm39) |
F390L |
possibly damaging |
Het |
| Comt |
T |
C |
16: 18,230,040 (GRCm39) |
Y100C |
probably benign |
Het |
| Cyria |
G |
T |
12: 12,412,028 (GRCm39) |
A150S |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,720,981 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,669,077 (GRCm39) |
Q1202* |
probably null |
Het |
| Disp1 |
C |
T |
1: 182,869,151 (GRCm39) |
V1090M |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,414,058 (GRCm39) |
D62G |
possibly damaging |
Het |
| Dock1 |
C |
T |
7: 134,374,052 (GRCm39) |
T566I |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,403,246 (GRCm39) |
M18R |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,546,884 (GRCm39) |
L296P |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,997,275 (GRCm39) |
D155V |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,124,903 (GRCm39) |
S465P |
possibly damaging |
Het |
| Eno1b |
G |
A |
18: 48,180,725 (GRCm39) |
W301* |
probably null |
Het |
| Fpgt |
A |
G |
3: 154,792,903 (GRCm39) |
S375P |
probably benign |
Het |
| Gas2l1 |
G |
A |
11: 5,011,785 (GRCm39) |
S348F |
possibly damaging |
Het |
| Gen1 |
A |
T |
12: 11,311,077 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,751,851 (GRCm39) |
C1412S |
probably damaging |
Het |
| Iqcn |
A |
G |
8: 71,161,224 (GRCm39) |
E139G |
probably benign |
Het |
| Klhl2 |
A |
C |
8: 65,211,257 (GRCm39) |
L264V |
probably damaging |
Het |
| Lars2 |
A |
G |
9: 123,288,562 (GRCm39) |
T803A |
probably benign |
Het |
| Ldb2 |
T |
A |
5: 44,637,612 (GRCm39) |
K232M |
probably damaging |
Het |
| Lix1 |
G |
A |
17: 17,663,938 (GRCm39) |
R92Q |
probably damaging |
Het |
| Meig1 |
C |
T |
2: 3,410,240 (GRCm39) |
V87I |
not run |
Het |
| Mitf |
A |
C |
6: 97,970,259 (GRCm39) |
S176R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,398 (GRCm39) |
V236A |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,030,239 (GRCm39) |
Y119* |
probably null |
Het |
| Ncapg2 |
A |
G |
12: 116,390,197 (GRCm39) |
N382S |
probably benign |
Het |
| Neu2 |
C |
T |
1: 87,524,633 (GRCm39) |
P206L |
probably damaging |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,480,792 (GRCm39) |
F147S |
probably damaging |
Het |
| Osbpl5 |
C |
T |
7: 143,256,461 (GRCm39) |
R454Q |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,956,297 (GRCm39) |
S13P |
possibly damaging |
Het |
| Pde2a |
A |
G |
7: 101,153,179 (GRCm39) |
D413G |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,188,316 (GRCm39) |
Y803F |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,380,162 (GRCm39) |
|
probably benign |
Het |
| Pth2r |
T |
A |
1: 65,382,660 (GRCm39) |
Y143N |
possibly damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,619,330 (GRCm39) |
|
probably null |
Het |
| Rapgef3 |
T |
C |
15: 97,659,401 (GRCm39) |
Y112C |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,422,492 (GRCm39) |
N907S |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,522,938 (GRCm39) |
N922I |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,088,077 (GRCm39) |
V1620A |
possibly damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,018,361 (GRCm39) |
S280R |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,965,419 (GRCm39) |
I63M |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,751,610 (GRCm39) |
V2817E |
unknown |
Het |
| Sprr3 |
T |
C |
3: 92,364,184 (GRCm39) |
E220G |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,762 (GRCm39) |
E14G |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,501,663 (GRCm39) |
D1289G |
probably damaging |
Het |
| Tmem121b |
C |
A |
6: 120,469,064 (GRCm39) |
G551V |
probably damaging |
Het |
| Tpk1 |
A |
G |
6: 43,323,778 (GRCm39) |
S224P |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,523,404 (GRCm39) |
I146T |
probably damaging |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,805,409 (GRCm39) |
I3336L |
probably benign |
Het |
| Vmn1r200 |
C |
A |
13: 22,579,453 (GRCm39) |
Y85* |
probably null |
Het |
| Vps39 |
T |
C |
2: 120,174,692 (GRCm39) |
I97V |
probably benign |
Het |
| Zan |
T |
A |
5: 137,434,893 (GRCm39) |
I2167F |
unknown |
Het |
| Zfp37 |
A |
T |
4: 62,109,665 (GRCm39) |
Y507* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,793,573 (GRCm39) |
V55A |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,974,340 (GRCm39) |
N294I |
possibly damaging |
Het |
| Zfp729a |
T |
C |
13: 67,768,208 (GRCm39) |
T674A |
probably benign |
Het |
|
| Other mutations in Atp8b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02313:Atp8b2
|
APN |
3 |
89,857,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02472:Atp8b2
|
APN |
3 |
89,861,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02651:Atp8b2
|
APN |
3 |
89,861,896 (GRCm39) |
splice site |
probably null |
|
|
IGL03057:Atp8b2
|
APN |
3 |
89,851,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03349:Atp8b2
|
APN |
3 |
89,865,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Atp8b2
|
APN |
3 |
89,855,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Atp8b2
|
UTSW |
3 |
89,866,368 (GRCm39) |
splice site |
probably benign |
|
|
R0784:Atp8b2
|
UTSW |
3 |
89,864,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1249:Atp8b2
|
UTSW |
3 |
89,855,111 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1447:Atp8b2
|
UTSW |
3 |
89,851,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Atp8b2
|
UTSW |
3 |
89,857,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1647:Atp8b2
|
UTSW |
3 |
89,849,091 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1736:Atp8b2
|
UTSW |
3 |
89,860,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1907:Atp8b2
|
UTSW |
3 |
89,853,583 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2656:Atp8b2
|
UTSW |
3 |
89,849,065 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2888:Atp8b2
|
UTSW |
3 |
89,865,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3706:Atp8b2
|
UTSW |
3 |
89,852,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3708:Atp8b2
|
UTSW |
3 |
89,852,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3740:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R3741:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R3742:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R3896:Atp8b2
|
UTSW |
3 |
89,864,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3914:Atp8b2
|
UTSW |
3 |
89,861,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4536:Atp8b2
|
UTSW |
3 |
89,849,091 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4770:Atp8b2
|
UTSW |
3 |
89,864,374 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4859:Atp8b2
|
UTSW |
3 |
89,853,287 (GRCm39) |
missense |
probably benign |
|
|
R4905:Atp8b2
|
UTSW |
3 |
89,856,315 (GRCm39) |
missense |
probably benign |
|
|
R4925:Atp8b2
|
UTSW |
3 |
89,853,930 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4955:Atp8b2
|
UTSW |
3 |
89,860,227 (GRCm39) |
unclassified |
probably benign |
|
|
R5433:Atp8b2
|
UTSW |
3 |
89,860,216 (GRCm39) |
unclassified |
probably benign |
|
|
R5458:Atp8b2
|
UTSW |
3 |
89,853,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5517:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R5663:Atp8b2
|
UTSW |
3 |
89,849,101 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6056:Atp8b2
|
UTSW |
3 |
89,853,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6821:Atp8b2
|
UTSW |
3 |
89,855,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7069:Atp8b2
|
UTSW |
3 |
89,861,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Atp8b2
|
UTSW |
3 |
89,850,979 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7533:Atp8b2
|
UTSW |
3 |
89,852,831 (GRCm39) |
missense |
|
|
|
R7552:Atp8b2
|
UTSW |
3 |
89,854,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8491:Atp8b2
|
UTSW |
3 |
89,865,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Atp8b2
|
UTSW |
3 |
89,853,307 (GRCm39) |
missense |
|
|
|
R8913:Atp8b2
|
UTSW |
3 |
89,852,830 (GRCm39) |
missense |
|
|
|
R8996:Atp8b2
|
UTSW |
3 |
89,850,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Atp8b2
|
UTSW |
3 |
89,865,927 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9341:Atp8b2
|
UTSW |
3 |
89,855,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9343:Atp8b2
|
UTSW |
3 |
89,855,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9439:Atp8b2
|
UTSW |
3 |
89,851,492 (GRCm39) |
missense |
|
|
|
R9466:Atp8b2
|
UTSW |
3 |
89,851,484 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9590:Atp8b2
|
UTSW |
3 |
89,865,693 (GRCm39) |
nonsense |
probably null |
|
|
R9651:Atp8b2
|
UTSW |
3 |
89,865,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9739:Atp8b2
|
UTSW |
3 |
89,853,403 (GRCm39) |
missense |
probably benign |
|
|
R9778:Atp8b2
|
UTSW |
3 |
89,861,865 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Atp8b2
|
UTSW |
3 |
89,861,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGAAAGGTTCCCCTGGTAGG -3'
(R):5'- CGACACACTGGTCCTATCGTAC -3'
Sequencing Primer
(F):5'- GAGGAATCTACCATCTTCTTCCGGG -3'
(R):5'- CCTATCGTACCCTTGTGTGGAG -3'
|
| Posted On |
2020-07-30 |
Incidental Mutation