Incidental Mutation 'R7178:Atp8b2'
ID |
558749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b2
|
Ensembl Gene |
ENSMUSG00000060671 |
Gene Name |
ATPase, class I, type 8B, member 2 |
Synonyms |
Id |
MMRRC Submission |
045232-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R7178 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89850979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 29
(D29G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000166502]
[ENSMUST00000168276]
[ENSMUST00000170739]
|
AlphaFold |
P98199 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069805
AA Change: D1008G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063384 Gene: ENSMUSG00000060671 AA Change: D1008G
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 |
possibly damaging
Transcript: ENSMUST00000107396
AA Change: D1013G
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103019 Gene: ENSMUSG00000060671 AA Change: D1013G
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 |
possibly damaging
Transcript: ENSMUST00000166502
AA Change: D29G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132201 Gene: ENSMUSG00000060671 AA Change: D29G
Domain | Start | End | E-Value | Type |
SCOP:d1eula_
|
2 |
95 |
5e-7 |
SMART |
low complexity region
|
100 |
109 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168276
AA Change: D989G
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128423 Gene: ENSMUSG00000060671 AA Change: D989G
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (75/75) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
A |
G |
9: 54,535,745 (GRCm39) |
I130T |
possibly damaging |
Het |
Adam24 |
T |
A |
8: 41,133,039 (GRCm39) |
L169* |
probably null |
Het |
Als2 |
A |
T |
1: 59,246,971 (GRCm39) |
I556N |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,688,599 (GRCm39) |
N212K |
|
Het |
Anpep |
T |
C |
7: 79,490,736 (GRCm39) |
D260G |
probably benign |
Het |
Arhgap17 |
A |
T |
7: 122,884,581 (GRCm39) |
|
probably null |
Het |
Atad2 |
C |
T |
15: 57,980,689 (GRCm39) |
R383Q |
probably damaging |
Het |
Atp11b |
T |
A |
3: 35,874,099 (GRCm39) |
M696K |
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,726,462 (GRCm39) |
T350A |
probably damaging |
Het |
Baz2a |
C |
T |
10: 127,960,326 (GRCm39) |
R1514W |
probably damaging |
Het |
Cep250 |
T |
A |
2: 155,815,375 (GRCm39) |
L631* |
probably null |
Het |
Cimip2a |
G |
A |
2: 25,110,252 (GRCm39) |
V55I |
probably damaging |
Het |
Clec4a3 |
T |
C |
6: 122,941,251 (GRCm39) |
I82T |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,454,170 (GRCm39) |
I2648F |
|
Het |
Cul5 |
A |
G |
9: 53,555,826 (GRCm39) |
F247L |
probably benign |
Het |
Dnajc24 |
A |
T |
2: 105,800,807 (GRCm39) |
M101K |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,344,200 (GRCm39) |
V1848E |
probably damaging |
Het |
Dspp |
A |
G |
5: 104,321,932 (GRCm39) |
T14A |
probably benign |
Het |
Gm7298 |
T |
G |
6: 121,762,855 (GRCm39) |
I1392S |
probably damaging |
Het |
Gm9955 |
A |
T |
18: 24,842,220 (GRCm39) |
S62R |
unknown |
Het |
Gtsf1 |
T |
G |
15: 103,328,388 (GRCm39) |
N130T |
probably benign |
Het |
Heatr5a |
C |
A |
12: 51,971,925 (GRCm39) |
S755I |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,985,685 (GRCm39) |
T279A |
possibly damaging |
Het |
Hvcn1 |
T |
C |
5: 122,371,573 (GRCm39) |
W38R |
probably damaging |
Het |
Hyal6 |
A |
G |
6: 24,734,834 (GRCm39) |
S256G |
probably benign |
Het |
Insyn2b |
G |
T |
11: 34,352,359 (GRCm39) |
V134F |
probably damaging |
Het |
Ipo13 |
A |
G |
4: 117,761,081 (GRCm39) |
S546P |
possibly damaging |
Het |
Katnip |
T |
C |
7: 125,465,499 (GRCm39) |
V1317A |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,395,085 (GRCm39) |
V730A |
probably benign |
Het |
L3mbtl2 |
T |
C |
15: 81,555,275 (GRCm39) |
V176A |
probably benign |
Het |
Lgi1 |
T |
C |
19: 38,294,733 (GRCm39) |
Y502H |
probably damaging |
Het |
Liph |
T |
A |
16: 21,795,078 (GRCm39) |
D178V |
probably damaging |
Het |
Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
Mak16 |
A |
C |
8: 31,656,602 (GRCm39) |
S42A |
probably benign |
Het |
Mamdc4 |
T |
C |
2: 25,458,977 (GRCm39) |
I269V |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,120,728 (GRCm39) |
M812K |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,752,788 (GRCm38) |
S889T |
unknown |
Het |
Npy6r |
A |
G |
18: 44,409,551 (GRCm39) |
N324S |
probably damaging |
Het |
Ntrk3 |
T |
G |
7: 78,005,895 (GRCm39) |
T489P |
possibly damaging |
Het |
Or52a5b |
G |
A |
7: 103,417,182 (GRCm39) |
Q141* |
probably null |
Het |
Or5h19 |
T |
A |
16: 58,856,296 (GRCm39) |
D268V |
probably benign |
Het |
Or5t17 |
G |
A |
2: 86,832,879 (GRCm39) |
V189I |
probably benign |
Het |
Otof |
G |
C |
5: 30,540,878 (GRCm39) |
T887S |
possibly damaging |
Het |
Papola |
T |
C |
12: 105,773,443 (GRCm39) |
V154A |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,622,946 (GRCm39) |
H1421R |
probably benign |
Het |
Plpp5 |
T |
C |
8: 26,210,606 (GRCm39) |
S66P |
probably benign |
Het |
Ppp6r3 |
T |
A |
19: 3,568,337 (GRCm39) |
I154L |
probably benign |
Het |
Prr18 |
A |
C |
17: 8,560,741 (GRCm39) |
D299A |
possibly damaging |
Het |
Psmb1 |
G |
A |
17: 15,697,521 (GRCm39) |
S198F |
possibly damaging |
Het |
Qars1 |
T |
C |
9: 108,392,322 (GRCm39) |
V723A |
possibly damaging |
Het |
Rab6a |
A |
T |
7: 100,285,959 (GRCm39) |
R185* |
probably null |
Het |
Scn2a |
C |
T |
2: 65,579,197 (GRCm39) |
Q1511* |
probably null |
Het |
Serpinb3d |
T |
A |
1: 107,008,506 (GRCm39) |
I120F |
possibly damaging |
Het |
Serpini2 |
T |
C |
3: 75,165,455 (GRCm39) |
T175A |
probably damaging |
Het |
Skic2 |
T |
C |
17: 35,058,440 (GRCm39) |
T1226A |
probably benign |
Het |
Slc17a6 |
A |
G |
7: 51,317,259 (GRCm39) |
I427V |
possibly damaging |
Het |
Slc2a2 |
C |
T |
3: 28,773,631 (GRCm39) |
A312V |
possibly damaging |
Het |
Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
Spcs1 |
G |
A |
14: 30,722,438 (GRCm39) |
S127F |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,399,027 (GRCm39) |
V2158A |
possibly damaging |
Het |
Sptbn4 |
T |
A |
7: 27,117,481 (GRCm39) |
I423F |
probably damaging |
Het |
Synj2 |
T |
A |
17: 6,076,754 (GRCm39) |
I930N |
possibly damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,623 (GRCm39) |
D45V |
probably damaging |
Het |
Tcf3 |
C |
A |
10: 80,257,433 (GRCm39) |
V11F |
unknown |
Het |
Tead1 |
A |
T |
7: 112,441,144 (GRCm39) |
Q91L |
probably benign |
Het |
Tgm5 |
T |
A |
2: 120,916,249 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
C |
T |
6: 72,593,028 (GRCm39) |
G151S |
probably benign |
Het |
Tnfrsf11a |
C |
A |
1: 105,755,264 (GRCm39) |
N445K |
probably benign |
Het |
Ttn |
G |
C |
2: 76,540,514 (GRCm39) |
F34157L |
probably benign |
Het |
Vmn2r91 |
C |
A |
17: 18,356,424 (GRCm39) |
P697Q |
probably damaging |
Het |
Zeb2 |
G |
A |
2: 44,887,006 (GRCm39) |
L684F |
probably damaging |
Het |
Zfp661 |
T |
C |
2: 127,419,456 (GRCm39) |
D228G |
probably benign |
Het |
Zfp738 |
T |
C |
13: 67,821,147 (GRCm39) |
K77E |
probably damaging |
Het |
Zkscan1 |
T |
A |
5: 138,099,192 (GRCm39) |
D378E |
probably damaging |
Het |
Zswim9 |
T |
A |
7: 12,993,924 (GRCm39) |
D744V |
possibly damaging |
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 |
R7533:Atp8b2
|
UTSW |
3 |
89,852,831 (GRCm39) |
missense |
|
|
R7552:Atp8b2
|
UTSW |
3 |
89,854,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R8061:Atp8b2
|
UTSW |
3 |
89,853,527 (GRCm39) |
unclassified |
probably benign |
|
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'- GTCCAATAGCCTGTATCCAGC -3'
(R):5'- AAGCATGGAGTACCCTAAACTG -3'
Sequencing Primer
(F):5'- TTATTGAAGGGACGAGTACCCC -3'
(R):5'- TGGAGTACCCTAAACTGTACGAGC -3'
|
Posted On |
2019-06-26 |