Incidental Mutation 'R9466:Atp8b2'
| ID |
715153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b2
|
| Ensembl Gene |
ENSMUSG00000060671 |
| Gene Name |
ATPase, class I, type 8B, member 2 |
| Synonyms |
Id |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R9466 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89851484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 928
(Y928N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000166502]
[ENSMUST00000168276]
[ENSMUST00000170739]
|
| AlphaFold |
P98199 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069805
AA Change: Y923N
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: Y923N
| 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: Y928N
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: Y928N
| 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 benign
Transcript: ENSMUST00000168276
AA Change: Y904N
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: Y904N
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
G |
14: 8,248,092 (GRCm38) |
S397P |
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 98,124,825 (GRCm39) |
S486C |
|
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,048,584 (GRCm39) |
T253A |
possibly damaging |
Het |
| Brsk2 |
A |
T |
7: 141,536,800 (GRCm39) |
Y91F |
probably benign |
Het |
| C7 |
C |
T |
15: 5,044,884 (GRCm39) |
V385I |
probably benign |
Het |
| Cdk5rap1 |
C |
A |
2: 154,192,756 (GRCm39) |
V414F |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Cyp2d26 |
A |
T |
15: 82,674,424 (GRCm39) |
M486K |
probably benign |
Het |
| Dchs2 |
G |
T |
3: 83,176,564 (GRCm39) |
A841S |
probably damaging |
Het |
| Dnajb1 |
T |
G |
8: 84,337,384 (GRCm39) |
V320G |
probably damaging |
Het |
| Dusp10 |
T |
C |
1: 183,769,234 (GRCm39) |
S67P |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,414 (GRCm39) |
T548A |
probably benign |
Het |
| Grhl3 |
A |
T |
4: 135,283,412 (GRCm39) |
S276T |
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,119,483 (GRCm39) |
N331K |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,193,445 (GRCm39) |
Q519L |
probably damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kdm4b |
A |
C |
17: 56,696,548 (GRCm39) |
E421D |
probably benign |
Het |
| Krt6b |
A |
T |
15: 101,586,027 (GRCm39) |
Y349N |
probably damaging |
Het |
| Larp1 |
T |
C |
11: 57,943,461 (GRCm39) |
S845P |
possibly damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nup98 |
G |
A |
7: 101,818,611 (GRCm39) |
S473L |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,631,796 (GRCm39) |
M1K |
probably null |
Het |
| Or14c45 |
C |
G |
7: 86,176,080 (GRCm39) |
F38L |
probably benign |
Het |
| Or8g28 |
T |
A |
9: 39,169,491 (GRCm39) |
H159L |
possibly damaging |
Het |
| Ovgp1 |
G |
A |
3: 105,887,484 (GRCm39) |
R265H |
|
Het |
| Pgap3 |
C |
T |
11: 98,289,796 (GRCm39) |
R65Q |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
C |
A |
2: 160,596,520 (GRCm39) |
H680N |
probably benign |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,081 (GRCm39) |
D194V |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,123,799 (GRCm39) |
D158G |
probably benign |
Het |
| Prkd2 |
A |
T |
7: 16,589,696 (GRCm39) |
H466L |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,049 (GRCm39) |
I683V |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,503,258 (GRCm39) |
H2734Q |
possibly damaging |
Het |
| Scnn1b |
A |
T |
7: 121,502,013 (GRCm39) |
I224F |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,872,910 (GRCm39) |
|
probably null |
Het |
| Syt15 |
C |
T |
14: 33,942,991 (GRCm39) |
L17F |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,199,252 (GRCm39) |
F15S |
possibly damaging |
Het |
| Thsd7b |
A |
G |
1: 130,122,866 (GRCm39) |
K1495R |
probably benign |
Het |
| Ttc28 |
T |
C |
5: 111,330,895 (GRCm39) |
S372P |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,317 (GRCm39) |
Y260* |
probably null |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,417 (GRCm39) |
V227A |
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 |
|
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 |
|
|
|
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 |
|
|
|
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'- ACAAGTTCCAGAGCCAAGATG -3'
(R):5'- GCACCACTTGACTTTGAACTC -3'
Sequencing Primer
(F):5'- TTCCAGAGCCAAGATGGAAAGGATC -3'
(R):5'- AACTCTGAATCTGGCCATGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation