Incidental Mutation 'R1647:Atp8b2'
| ID |
173935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b2
|
| Ensembl Gene |
ENSMUSG00000060671 |
| Gene Name |
ATPase, class I, type 8B, member 2 |
| Synonyms |
Id |
| MMRRC Submission |
039683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R1647 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89849091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1081
(A1081V)
|
| 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: A1081V
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: A1081V
| 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: A1086V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: A1086V
| 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 |
probably benign
Transcript: ENSMUST00000168276
AA Change: A1062V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: A1062V
| 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 |
noncoding transcript
Transcript: ENSMUST00000167442
|
| 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 |
|
| Meta Mutation Damage Score |
0.1148 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
97% (70/72) |
| 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 |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,768 (GRCm39) |
S184P |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,271,115 (GRCm39) |
F817L |
probably damaging |
Het |
| Anxa10 |
T |
C |
8: 62,545,618 (GRCm39) |
D38G |
probably damaging |
Het |
| Baz1a |
G |
A |
12: 55,021,983 (GRCm39) |
R100C |
probably damaging |
Het |
| Ceacam18 |
A |
C |
7: 43,288,689 (GRCm39) |
T147P |
possibly damaging |
Het |
| Cep170b |
C |
T |
12: 112,702,806 (GRCm39) |
T423I |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,883,978 (GRCm39) |
L89S |
probably damaging |
Het |
| Chrm3 |
A |
T |
13: 9,928,461 (GRCm39) |
W192R |
probably damaging |
Het |
| Cnn1 |
C |
A |
9: 22,019,150 (GRCm39) |
A202E |
probably damaging |
Het |
| Dcaf7 |
T |
A |
11: 105,942,628 (GRCm39) |
F192I |
probably damaging |
Het |
| Eif2b5 |
T |
C |
16: 20,321,335 (GRCm39) |
V296A |
possibly damaging |
Het |
| Entpd7 |
A |
G |
19: 43,710,184 (GRCm39) |
|
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,951,260 (GRCm39) |
E546G |
possibly damaging |
Het |
| Etaa1 |
C |
A |
11: 17,896,492 (GRCm39) |
G542C |
probably damaging |
Het |
| Exosc8 |
A |
T |
3: 54,641,522 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
A |
5: 96,874,472 (GRCm39) |
|
probably null |
Het |
| G930045G22Rik |
T |
C |
6: 50,823,698 (GRCm39) |
|
noncoding transcript |
Het |
| Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,194,508 (GRCm39) |
|
probably null |
Het |
| Has1 |
A |
G |
17: 18,070,247 (GRCm39) |
Y225H |
probably damaging |
Het |
| Hk3 |
A |
G |
13: 55,162,274 (GRCm39) |
F110S |
probably damaging |
Het |
| Iars1 |
A |
G |
13: 49,876,478 (GRCm39) |
K848E |
possibly damaging |
Het |
| Il22ra1 |
C |
A |
4: 135,477,771 (GRCm39) |
H281N |
probably damaging |
Het |
| Inpp4b |
G |
T |
8: 82,583,403 (GRCm39) |
|
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,667,652 (GRCm39) |
N662D |
probably benign |
Het |
| Kif20b |
A |
T |
19: 34,914,190 (GRCm39) |
T355S |
possibly damaging |
Het |
| Kif21a |
T |
C |
15: 90,878,570 (GRCm39) |
T237A |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,743,321 (GRCm39) |
L216P |
probably damaging |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,665,256 (GRCm39) |
D2330G |
possibly damaging |
Het |
| Lamb2 |
G |
A |
9: 108,358,622 (GRCm39) |
|
probably null |
Het |
| Limch1 |
T |
A |
5: 67,156,599 (GRCm39) |
S511R |
probably damaging |
Het |
| Lnx2 |
C |
A |
5: 146,964,152 (GRCm39) |
V468L |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,006,509 (GRCm39) |
C1205* |
probably null |
Het |
| Lsm4 |
A |
G |
8: 71,130,456 (GRCm39) |
Y25C |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
| Miip |
T |
C |
4: 147,949,691 (GRCm39) |
S174G |
probably benign |
Het |
| Mroh9 |
T |
G |
1: 162,873,625 (GRCm39) |
E510A |
probably damaging |
Het |
| Msh2 |
C |
T |
17: 87,980,064 (GRCm39) |
A14V |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,537,650 (GRCm39) |
I2828F |
probably damaging |
Het |
| Nkx2-3 |
A |
T |
19: 43,602,895 (GRCm39) |
Q167L |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,540,432 (GRCm39) |
Y854H |
probably damaging |
Het |
| Or10a3n |
A |
G |
7: 108,492,972 (GRCm39) |
I214T |
probably damaging |
Het |
| Or51a10 |
A |
G |
7: 103,699,376 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or5an10 |
T |
A |
19: 12,276,023 (GRCm39) |
I158L |
probably benign |
Het |
| Pate9 |
A |
G |
9: 36,445,736 (GRCm39) |
S72P |
possibly damaging |
Het |
| Phldb1 |
G |
A |
9: 44,626,730 (GRCm39) |
P572S |
probably damaging |
Het |
| Plcb2 |
A |
T |
2: 118,554,261 (GRCm39) |
M64K |
possibly damaging |
Het |
| Prr12 |
T |
A |
7: 44,683,616 (GRCm39) |
N1683Y |
probably benign |
Het |
| Prrg4 |
C |
A |
2: 104,663,088 (GRCm39) |
A173S |
probably benign |
Het |
| Pygl |
T |
A |
12: 70,243,784 (GRCm39) |
I553F |
possibly damaging |
Het |
| Rasd1 |
T |
C |
11: 59,854,920 (GRCm39) |
M187V |
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,835,973 (GRCm39) |
I234V |
probably benign |
Het |
| Rps6ka4 |
C |
A |
19: 6,816,730 (GRCm39) |
V118L |
probably benign |
Het |
| Sbspon |
C |
A |
1: 15,953,983 (GRCm39) |
R99L |
probably damaging |
Het |
| Sdhaf3 |
T |
C |
6: 6,956,126 (GRCm39) |
Y34H |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,461,945 (GRCm39) |
M367L |
probably benign |
Het |
| Slc26a5 |
T |
A |
5: 22,018,974 (GRCm39) |
K590* |
probably null |
Het |
| Slc39a12 |
T |
C |
2: 14,456,803 (GRCm39) |
V597A |
probably benign |
Het |
| Slc45a3 |
G |
A |
1: 131,905,262 (GRCm39) |
G81D |
probably damaging |
Het |
| Spata2l |
T |
C |
8: 123,960,041 (GRCm39) |
N416S |
probably benign |
Het |
| Tdrd6 |
A |
C |
17: 43,938,000 (GRCm39) |
V1016G |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,191,641 (GRCm39) |
V931A |
probably benign |
Het |
| Tmem190 |
A |
G |
7: 4,787,120 (GRCm39) |
D108G |
probably damaging |
Het |
| Trip11 |
T |
A |
12: 101,850,651 (GRCm39) |
K853* |
probably null |
Het |
| Vmn2r111 |
A |
T |
17: 22,788,042 (GRCm39) |
D436E |
probably benign |
Het |
| Zfp704 |
A |
T |
3: 9,536,099 (GRCm39) |
S140R |
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 |
|
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 |
|
|
|
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'- AGGGCAGATCAGCTCAGGAACTTC -3'
(R):5'- TACCTGGAAAAGGCAGGCACAC -3'
Sequencing Primer
(F):5'- AGCTCAGGAACTTCTGTAGC -3'
(R):5'- TTAGCCTGGAGATTCCTTGAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation