Incidental Mutation 'R2656:Atp8b2'
| ID |
252719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b2
|
| Ensembl Gene |
ENSMUSG00000060671 |
| Gene Name |
ATPase, class I, type 8B, member 2 |
| Synonyms |
Id |
| MMRRC Submission |
040431-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
R2656 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89939481-89963508 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89941758 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1090
(A1090T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000166502]
[ENSMUST00000168276]
[ENSMUST00000170739]
|
| AlphaFold |
P98199 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069805
AA Change: A1090T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: A1090T
| 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 |
probably benign
Transcript: ENSMUST00000107396
AA Change: A1095T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: A1095T
| 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 |
noncoding transcript
Transcript: ENSMUST00000163152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166347
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000167257
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167442
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168276
AA Change: A1071T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: A1071T
| 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 |
noncoding transcript
Transcript: ENSMUST00000170324
|
| 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 |
probably benign
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| 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 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,117,696 (GRCm38) |
C655R |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,196,438 (GRCm38) |
V864D |
possibly damaging |
Het |
| Angptl3 |
A |
G |
4: 99,037,964 (GRCm38) |
I444V |
probably benign |
Het |
| BC005561 |
A |
G |
5: 104,519,315 (GRCm38) |
I568V |
probably benign |
Het |
| Bcl2l2 |
C |
T |
14: 54,885,432 (GRCm38) |
R47C |
probably benign |
Het |
| Ces2a |
G |
A |
8: 104,736,134 (GRCm38) |
M118I |
probably benign |
Het |
| Cyp4a29 |
T |
G |
4: 115,249,724 (GRCm38) |
L193V |
possibly damaging |
Het |
| Dpp8 |
A |
G |
9: 65,080,804 (GRCm38) |
Y877C |
probably damaging |
Het |
| Enpp6 |
C |
T |
8: 47,082,418 (GRCm38) |
R33* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,979,045 (GRCm38) |
D1903N |
possibly damaging |
Het |
| Ggt1 |
T |
A |
10: 75,581,385 (GRCm38) |
Y5* |
probably null |
Het |
| Gm14412 |
A |
T |
2: 177,315,200 (GRCm38) |
C301S |
unknown |
Het |
| Gpatch2l |
T |
A |
12: 86,288,810 (GRCm38) |
D428E |
probably damaging |
Het |
| Grin2b |
C |
T |
6: 135,733,429 (GRCm38) |
G1040S |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,681,828 (GRCm38) |
D126G |
possibly damaging |
Het |
| Itgam |
T |
G |
7: 128,116,815 (GRCm38) |
L1120R |
probably null |
Het |
| Kank4 |
T |
C |
4: 98,778,957 (GRCm38) |
N418D |
probably damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,622,671 (GRCm38) |
V355A |
possibly damaging |
Het |
| Lonrf2 |
C |
T |
1: 38,815,960 (GRCm38) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 41,511,581 (GRCm38) |
C240S |
probably damaging |
Het |
| Mapk8ip3 |
T |
G |
17: 24,912,807 (GRCm38) |
E386A |
probably damaging |
Het |
| Mtmr14 |
A |
G |
6: 113,240,366 (GRCm38) |
I80V |
probably benign |
Het |
| Nav2 |
A |
C |
7: 49,545,942 (GRCm38) |
D961A |
probably damaging |
Het |
| Nmt2 |
A |
G |
2: 3,307,013 (GRCm38) |
D107G |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,246,868 (GRCm38) |
K761E |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,348,678 (GRCm38) |
T641A |
probably benign |
Het |
| Ogdhl |
T |
G |
14: 32,332,826 (GRCm38) |
F244V |
possibly damaging |
Het |
| Olfr1447 |
A |
G |
19: 12,901,666 (GRCm38) |
I38T |
probably benign |
Het |
| Olfr1454 |
A |
T |
19: 13,063,984 (GRCm38) |
H191L |
probably benign |
Het |
| Olfr639 |
G |
A |
7: 104,011,865 (GRCm38) |
S279L |
probably damaging |
Het |
| Olfr699 |
T |
A |
7: 106,790,513 (GRCm38) |
T163S |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,430,236 (GRCm38) |
I617T |
probably benign |
Het |
| Ppfia2 |
T |
G |
10: 106,865,407 (GRCm38) |
|
probably null |
Het |
| Prickle1 |
T |
C |
15: 93,503,370 (GRCm38) |
E411G |
probably benign |
Het |
| Prpsap2 |
C |
A |
11: 61,730,225 (GRCm38) |
M343I |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,752,891 (GRCm38) |
V72A |
probably benign |
Het |
| Ranbp17 |
A |
T |
11: 33,243,122 (GRCm38) |
D977E |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,052,176 (GRCm38) |
S238P |
probably damaging |
Het |
| Scap |
C |
T |
9: 110,374,019 (GRCm38) |
R254W |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,526,518 (GRCm38) |
D194G |
probably damaging |
Het |
| Shisa7 |
T |
C |
7: 4,829,819 (GRCm38) |
H481R |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,741,048 (GRCm38) |
Y323H |
probably damaging |
Het |
| Tlr9 |
T |
C |
9: 106,223,941 (GRCm38) |
S144P |
probably benign |
Het |
| Tmem69 |
T |
A |
4: 116,553,590 (GRCm38) |
K61M |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,941,265 (GRCm38) |
D134G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,894,270 (GRCm38) |
|
probably benign |
Het |
| Vwf |
A |
G |
6: 125,555,361 (GRCm38) |
T26A |
probably benign |
Het |
| Zbtb16 |
A |
T |
9: 48,832,688 (GRCm38) |
I108N |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,780,430 (GRCm38) |
Y497N |
probably damaging |
Het |
| Zfp652 |
A |
G |
11: 95,749,329 (GRCm38) |
S27G |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,172,852 (GRCm38) |
T632A |
possibly damaging |
Het |
| Znhit6 |
T |
C |
3: 145,578,169 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Atp8b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02313:Atp8b2
|
APN |
3 |
89,949,853 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02472:Atp8b2
|
APN |
3 |
89,954,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02651:Atp8b2
|
APN |
3 |
89,954,589 (GRCm38) |
splice site |
probably null |
|
|
IGL03057:Atp8b2
|
APN |
3 |
89,944,186 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03349:Atp8b2
|
APN |
3 |
89,957,817 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03382:Atp8b2
|
APN |
3 |
89,948,521 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0550:Atp8b2
|
UTSW |
3 |
89,959,061 (GRCm38) |
splice site |
probably benign |
|
|
R0784:Atp8b2
|
UTSW |
3 |
89,957,073 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1249:Atp8b2
|
UTSW |
3 |
89,947,804 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1447:Atp8b2
|
UTSW |
3 |
89,944,170 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1568:Atp8b2
|
UTSW |
3 |
89,949,848 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1647:Atp8b2
|
UTSW |
3 |
89,941,784 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1736:Atp8b2
|
UTSW |
3 |
89,952,694 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1907:Atp8b2
|
UTSW |
3 |
89,946,276 (GRCm38) |
missense |
probably benign |
0.28 |
|
R2888:Atp8b2
|
UTSW |
3 |
89,958,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3706:Atp8b2
|
UTSW |
3 |
89,945,152 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3708:Atp8b2
|
UTSW |
3 |
89,945,152 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3740:Atp8b2
|
UTSW |
3 |
89,946,031 (GRCm38) |
missense |
probably benign |
|
|
R3741:Atp8b2
|
UTSW |
3 |
89,946,031 (GRCm38) |
missense |
probably benign |
|
|
R3742:Atp8b2
|
UTSW |
3 |
89,946,031 (GRCm38) |
missense |
probably benign |
|
|
R3896:Atp8b2
|
UTSW |
3 |
89,957,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3914:Atp8b2
|
UTSW |
3 |
89,954,448 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4536:Atp8b2
|
UTSW |
3 |
89,941,784 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4770:Atp8b2
|
UTSW |
3 |
89,957,067 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4859:Atp8b2
|
UTSW |
3 |
89,945,980 (GRCm38) |
missense |
probably benign |
|
|
R4905:Atp8b2
|
UTSW |
3 |
89,949,008 (GRCm38) |
missense |
probably benign |
|
|
R4925:Atp8b2
|
UTSW |
3 |
89,946,623 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4955:Atp8b2
|
UTSW |
3 |
89,952,920 (GRCm38) |
unclassified |
probably benign |
|
|
R5433:Atp8b2
|
UTSW |
3 |
89,952,909 (GRCm38) |
unclassified |
probably benign |
|
|
R5458:Atp8b2
|
UTSW |
3 |
89,946,022 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5517:Atp8b2
|
UTSW |
3 |
89,946,031 (GRCm38) |
missense |
probably benign |
|
|
R5663:Atp8b2
|
UTSW |
3 |
89,941,794 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6056:Atp8b2
|
UTSW |
3 |
89,946,221 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6821:Atp8b2
|
UTSW |
3 |
89,948,173 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7069:Atp8b2
|
UTSW |
3 |
89,954,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7178:Atp8b2
|
UTSW |
3 |
89,943,672 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7533:Atp8b2
|
UTSW |
3 |
89,945,524 (GRCm38) |
missense |
|
|
|
R7552:Atp8b2
|
UTSW |
3 |
89,946,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8061:Atp8b2
|
UTSW |
3 |
89,946,220 (GRCm38) |
unclassified |
probably benign |
|
|
R8491:Atp8b2
|
UTSW |
3 |
89,958,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8827:Atp8b2
|
UTSW |
3 |
89,946,000 (GRCm38) |
missense |
|
|
|
R8913:Atp8b2
|
UTSW |
3 |
89,945,523 (GRCm38) |
missense |
|
|
|
R8996:Atp8b2
|
UTSW |
3 |
89,943,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9154:Atp8b2
|
UTSW |
3 |
89,958,620 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9341:Atp8b2
|
UTSW |
3 |
89,948,504 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9343:Atp8b2
|
UTSW |
3 |
89,948,504 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9439:Atp8b2
|
UTSW |
3 |
89,944,185 (GRCm38) |
missense |
|
|
|
R9466:Atp8b2
|
UTSW |
3 |
89,944,177 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9590:Atp8b2
|
UTSW |
3 |
89,958,386 (GRCm38) |
nonsense |
probably null |
|
|
R9651:Atp8b2
|
UTSW |
3 |
89,958,296 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9739:Atp8b2
|
UTSW |
3 |
89,946,096 (GRCm38) |
missense |
probably benign |
|
|
R9778:Atp8b2
|
UTSW |
3 |
89,954,558 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
Z1088:Atp8b2
|
UTSW |
3 |
89,954,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACTTCTGTAGCCAGGTGCAG -3'
(R):5'- CATTTGAGTGGCAGACAGACAG -3'
Sequencing Primer
(F):5'- TAGCCAGGTGCAGCACGTG -3'
(R):5'- CAGACAGAAGTTGAGGGTGTGTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation