Incidental Mutation 'R6821:Atp8b2'
ID |
537609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b2
|
Ensembl Gene |
ENSMUSG00000060671 |
Gene Name |
ATPase, class I, type 8B, member 2 |
Synonyms |
Id |
MMRRC Submission |
044933-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R6821 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89855480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 506
(F506I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128423
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000166502]
[ENSMUST00000168276]
[ENSMUST00000170739]
|
AlphaFold |
P98199 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069805
AA Change: F525I
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000063384 Gene: ENSMUSG00000060671 AA Change: F525I
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 damaging
Transcript: ENSMUST00000107396
AA Change: F506I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103019 Gene: ENSMUSG00000060671 AA Change: F506I
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 |
probably damaging
Transcript: ENSMUST00000168276
AA Change: F506I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128423 Gene: ENSMUSG00000060671 AA Change: F506I
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 damaging
Transcript: ENSMUST00000170739
AA Change: F27I
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127720 Gene: ENSMUSG00000060671 AA Change: F27I
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 |
|
Meta Mutation Damage Score |
0.2703 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (63/65) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
T |
C |
19: 55,277,268 (GRCm39) |
I417T |
probably benign |
Het |
Adamts12 |
A |
C |
15: 11,152,134 (GRCm39) |
K208T |
probably benign |
Het |
Adamts8 |
T |
A |
9: 30,867,922 (GRCm39) |
L582Q |
probably benign |
Het |
Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
Ano9 |
A |
T |
7: 140,687,169 (GRCm39) |
F357I |
possibly damaging |
Het |
Aox3 |
T |
C |
1: 58,189,547 (GRCm39) |
V416A |
probably benign |
Het |
Arhgap21 |
A |
C |
2: 20,853,659 (GRCm39) |
F1901C |
probably benign |
Het |
Atp9b |
A |
T |
18: 80,890,463 (GRCm39) |
L292H |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,963,712 (GRCm39) |
V891A |
probably damaging |
Het |
Ccnt2 |
T |
C |
1: 127,731,072 (GRCm39) |
S650P |
probably damaging |
Het |
Cdhr3 |
T |
A |
12: 33,085,044 (GRCm39) |
N791Y |
probably damaging |
Het |
Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
D630003M21Rik |
A |
C |
2: 158,046,694 (GRCm39) |
L761R |
probably damaging |
Het |
Draxin |
G |
T |
4: 148,200,148 (GRCm39) |
Q101K |
possibly damaging |
Het |
Dtx3l |
A |
T |
16: 35,753,430 (GRCm39) |
L392Q |
probably damaging |
Het |
Eif3d |
A |
G |
15: 77,845,855 (GRCm39) |
S389P |
possibly damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,359,582 (GRCm39) |
N757S |
possibly damaging |
Het |
Fam228b |
T |
C |
12: 4,813,083 (GRCm39) |
I96V |
probably benign |
Het |
Gars1 |
A |
G |
6: 55,056,323 (GRCm39) |
E728G |
probably benign |
Het |
Gldn |
T |
C |
9: 54,246,054 (GRCm39) |
M535T |
probably benign |
Het |
Gm47985 |
A |
G |
1: 151,058,787 (GRCm39) |
T143A |
possibly damaging |
Het |
Gpr6 |
T |
C |
10: 40,947,004 (GRCm39) |
T193A |
probably benign |
Het |
Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
Hecw1 |
T |
A |
13: 14,438,719 (GRCm39) |
Y1315F |
probably damaging |
Het |
Hs3st2 |
A |
G |
7: 121,099,745 (GRCm39) |
D197G |
possibly damaging |
Het |
Igsf9 |
T |
C |
1: 172,312,060 (GRCm39) |
I2T |
probably benign |
Het |
Ints9 |
A |
G |
14: 65,274,907 (GRCm39) |
E621G |
probably benign |
Het |
Itm2b |
G |
A |
14: 73,603,907 (GRCm39) |
P47S |
probably benign |
Het |
Map10 |
A |
G |
8: 126,397,138 (GRCm39) |
K177R |
probably benign |
Het |
Mdh2 |
T |
C |
5: 135,818,525 (GRCm39) |
F260S |
possibly damaging |
Het |
Mtmr11 |
A |
G |
3: 96,077,723 (GRCm39) |
T573A |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,376,845 (GRCm39) |
I3812N |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,415,301 (GRCm39) |
N3403S |
probably damaging |
Het |
Nvl |
G |
A |
1: 180,954,535 (GRCm39) |
Q343* |
probably null |
Het |
Ocstamp |
A |
T |
2: 165,239,842 (GRCm39) |
S115T |
probably benign |
Het |
Or51ai2 |
A |
T |
7: 103,586,793 (GRCm39) |
I69F |
probably benign |
Het |
Otoa |
G |
A |
7: 120,692,070 (GRCm39) |
|
probably null |
Het |
Pcdhb20 |
A |
T |
18: 37,639,175 (GRCm39) |
N567I |
probably damaging |
Het |
Pgm5 |
A |
T |
19: 24,839,011 (GRCm39) |
V48E |
possibly damaging |
Het |
Phlpp1 |
T |
A |
1: 106,314,174 (GRCm39) |
S1182R |
probably damaging |
Het |
Pik3r4 |
T |
A |
9: 105,527,805 (GRCm39) |
L386Q |
probably damaging |
Het |
Pop1 |
A |
G |
15: 34,508,785 (GRCm39) |
K287E |
possibly damaging |
Het |
Pramel23 |
A |
T |
4: 143,425,874 (GRCm39) |
L23* |
probably null |
Het |
Rad54b |
A |
G |
4: 11,612,777 (GRCm39) |
D803G |
probably damaging |
Het |
Rbm26 |
G |
A |
14: 105,354,400 (GRCm39) |
|
probably benign |
Het |
Rspry1 |
C |
T |
8: 95,362,059 (GRCm39) |
Q113* |
probably null |
Het |
Siah2 |
T |
A |
3: 58,599,191 (GRCm39) |
S16C |
probably benign |
Het |
Sirpa |
C |
A |
2: 129,472,017 (GRCm39) |
D481E |
probably damaging |
Het |
Slc38a7 |
A |
C |
8: 96,571,548 (GRCm39) |
D227E |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,220,151 (GRCm39) |
V438A |
probably benign |
Het |
Spast |
A |
G |
17: 74,658,957 (GRCm39) |
E108G |
probably benign |
Het |
Speg |
A |
G |
1: 75,394,547 (GRCm39) |
E1752G |
possibly damaging |
Het |
Tanc2 |
T |
G |
11: 105,777,316 (GRCm39) |
|
probably null |
Het |
Tgfbi |
T |
C |
13: 56,773,950 (GRCm39) |
I243T |
possibly damaging |
Het |
Tlr12 |
T |
C |
4: 128,510,685 (GRCm39) |
S522G |
possibly damaging |
Het |
Trav14-3 |
A |
G |
14: 54,000,929 (GRCm39) |
I47V |
probably benign |
Het |
Tsc22d4 |
T |
C |
5: 137,760,906 (GRCm39) |
V109A |
possibly damaging |
Het |
Ttl |
G |
A |
2: 128,910,835 (GRCm39) |
R73H |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,317,491 (GRCm39) |
T850I |
possibly damaging |
Het |
Vdac3 |
T |
C |
8: 23,070,491 (GRCm39) |
Y140C |
probably damaging |
Het |
Vmn2r120 |
T |
C |
17: 57,843,659 (GRCm39) |
R62G |
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,577,331 (GRCm39) |
Y461N |
probably damaging |
Het |
Wt1 |
T |
A |
2: 105,002,612 (GRCm39) |
F493I |
probably 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 |
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 |
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'- GGATTCCGAACTGTGAATGGC -3'
(R):5'- ACACACGCACGAGTTCTTCC -3'
Sequencing Primer
(F):5'- CGACCAGGCCTATCTGCTGTC -3'
(R):5'- GTGTCACACTGTCATGTCAGAAG -3'
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Posted On |
2018-10-18 |