Incidental Mutation 'R8913:Atp8b2'
ID |
678747 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b2
|
Ensembl Gene |
ENSMUSG00000060671 |
Gene Name |
ATPase, class I, type 8B, member 2 |
Synonyms |
Id |
MMRRC Submission |
068702-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R8913 (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 G
at 89852830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 144
(L144P)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000166502]
[ENSMUST00000168276]
[ENSMUST00000170739]
|
AlphaFold |
P98199 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069805
AA Change: L829P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063384 Gene: ENSMUSG00000060671 AA Change: L829P
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: L834P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103019 Gene: ENSMUSG00000060671 AA Change: L834P
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: L810P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128423 Gene: ENSMUSG00000060671 AA Change: L810P
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 |
|
SMART Domains |
Protein: ENSMUSP00000130545 Gene: ENSMUSG00000060671 AA Change: L144P
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 |
0.8654 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
96% (65/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,303,972 (GRCm39) |
Y2102H |
probably damaging |
Het |
Adam30 |
A |
T |
3: 98,068,580 (GRCm39) |
I10F |
possibly damaging |
Het |
Afap1l1 |
C |
T |
18: 61,889,910 (GRCm39) |
|
probably null |
Het |
Asz1 |
T |
C |
6: 18,054,570 (GRCm39) |
D411G |
probably benign |
Het |
Atxn7l3 |
G |
T |
11: 102,185,787 (GRCm39) |
N13K |
probably damaging |
Het |
Cap1 |
C |
A |
4: 122,761,445 (GRCm39) |
|
probably null |
Het |
Cd244a |
T |
A |
1: 171,401,774 (GRCm39) |
Y167N |
probably damaging |
Het |
Cd244a |
A |
T |
1: 171,401,775 (GRCm39) |
Y167F |
probably damaging |
Het |
Cd302 |
A |
G |
2: 60,088,241 (GRCm39) |
F92S |
probably damaging |
Het |
Cep128 |
C |
T |
12: 91,331,221 (GRCm39) |
|
probably null |
Het |
Csmd2 |
C |
A |
4: 128,417,351 (GRCm39) |
P2770T |
|
Het |
Cyp4f40 |
G |
T |
17: 32,886,810 (GRCm39) |
D122Y |
probably benign |
Het |
Dnah14 |
A |
G |
1: 181,553,063 (GRCm39) |
E2583G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,624,602 (GRCm39) |
V3714A |
probably benign |
Het |
Fam114a1 |
G |
T |
5: 65,185,821 (GRCm39) |
A381S |
possibly damaging |
Het |
Fzd8 |
A |
G |
18: 9,213,869 (GRCm39) |
Y317C |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,891,579 (GRCm39) |
K2312R |
possibly damaging |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Klhl23 |
G |
A |
2: 69,664,234 (GRCm39) |
E528K |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,982,039 (GRCm39) |
V1756A |
probably benign |
Het |
Lcn2 |
C |
A |
2: 32,277,158 (GRCm39) |
V53F |
possibly damaging |
Het |
Lrp4 |
T |
C |
2: 91,331,785 (GRCm39) |
S1633P |
probably benign |
Het |
Map3k19 |
A |
G |
1: 127,750,363 (GRCm39) |
V996A |
probably benign |
Het |
Mettl9 |
T |
G |
7: 120,675,539 (GRCm39) |
F313C |
probably damaging |
Het |
Mios |
T |
A |
6: 8,215,924 (GRCm39) |
H373Q |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,947,010 (GRCm39) |
|
probably benign |
Het |
Myo1a |
T |
C |
10: 127,541,710 (GRCm39) |
V83A |
probably benign |
Het |
Naxe |
T |
C |
3: 87,965,665 (GRCm39) |
T45A |
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,401,564 (GRCm39) |
V40A |
possibly damaging |
Het |
Nherf2 |
G |
A |
17: 24,863,839 (GRCm39) |
S12L |
probably benign |
Het |
Nmt1 |
G |
T |
11: 102,948,271 (GRCm39) |
R265L |
probably damaging |
Het |
Nwd2 |
C |
A |
5: 63,963,440 (GRCm39) |
A1008D |
possibly damaging |
Het |
Obsl1 |
C |
T |
1: 75,467,892 (GRCm39) |
A1334T |
probably benign |
Het |
Oplah |
T |
C |
15: 76,181,680 (GRCm39) |
M1114V |
|
Het |
Or10a3n |
T |
C |
7: 108,492,736 (GRCm39) |
R298G |
probably damaging |
Het |
Or10a49 |
A |
T |
7: 108,467,809 (GRCm39) |
V184E |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or2w6 |
A |
G |
13: 21,843,274 (GRCm39) |
F73S |
probably damaging |
Het |
Or4c29 |
A |
G |
2: 88,739,991 (GRCm39) |
F249L |
probably benign |
Het |
Pdlim5 |
A |
T |
3: 141,950,666 (GRCm39) |
F582L |
probably damaging |
Het |
Plcb2 |
A |
G |
2: 118,544,365 (GRCm39) |
F671L |
probably damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,923,947 (GRCm39) |
V725E |
probably damaging |
Het |
Psmd11 |
C |
T |
11: 80,362,338 (GRCm39) |
T396I |
probably damaging |
Het |
Ptn |
C |
T |
6: 36,718,276 (GRCm39) |
D130N |
probably benign |
Het |
Rasgrf2 |
T |
C |
13: 92,159,034 (GRCm39) |
D473G |
probably benign |
Het |
Robo1 |
A |
C |
16: 72,701,622 (GRCm39) |
I163L |
probably damaging |
Het |
Ror1 |
A |
C |
4: 100,265,027 (GRCm39) |
D167A |
possibly damaging |
Het |
Rps6ka5 |
T |
C |
12: 100,520,595 (GRCm39) |
D709G |
|
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Runx2 |
T |
C |
17: 44,919,169 (GRCm39) |
T472A |
probably benign |
Het |
Scn11a |
T |
C |
9: 119,623,094 (GRCm39) |
T582A |
probably damaging |
Het |
Serpina3m |
C |
T |
12: 104,355,477 (GRCm39) |
A48V |
probably benign |
Het |
Smim8 |
T |
A |
4: 34,769,056 (GRCm39) |
D76V |
possibly damaging |
Het |
Sqor |
A |
G |
2: 122,641,806 (GRCm39) |
K260R |
probably benign |
Het |
Syde2 |
A |
T |
3: 145,708,148 (GRCm39) |
I963F |
probably damaging |
Het |
Tasor |
A |
T |
14: 27,188,145 (GRCm39) |
N864Y |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,351,952 (GRCm39) |
|
probably benign |
Het |
Tm7sf3 |
A |
T |
6: 146,527,621 (GRCm39) |
Y68* |
probably null |
Het |
Tmtc2 |
T |
A |
10: 105,158,887 (GRCm39) |
I569F |
probably damaging |
Het |
Upf3a |
G |
A |
8: 13,845,728 (GRCm39) |
V276M |
possibly damaging |
Het |
Vmn1r174 |
G |
A |
7: 23,453,375 (GRCm39) |
V14M |
possibly damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,249,968 (GRCm39) |
S768P |
probably damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,785,778 (GRCm39) |
T194S |
probably benign |
Het |
Zfhx2 |
A |
G |
14: 55,309,543 (GRCm39) |
M852T |
probably benign |
Het |
Zfp207 |
T |
A |
11: 80,276,744 (GRCm39) |
D19E |
probably damaging |
Het |
Zfp318 |
G |
A |
17: 46,722,699 (GRCm39) |
M1567I |
probably benign |
Het |
Zfp407 |
T |
A |
18: 84,578,653 (GRCm39) |
E820V |
probably damaging |
Het |
Zfp512b |
A |
T |
2: 181,227,282 (GRCm39) |
C46S |
|
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 |
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 |
|
|
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'- AGGTGACCGTCTACTTCAGATC -3'
(R):5'- TGCTCTGGGAACACTGTGAC -3'
Sequencing Primer
(F):5'- GGTGACCGTCTACTTCAGATCTCATC -3'
(R):5'- GGGAACACTGTGACTCTGTTTCTC -3'
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Posted On |
2021-08-02 |