Incidental Mutation 'IGL02313:Atp8b2'
| ID |
287903 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp8b2
|
| Ensembl Gene |
ENSMUSG00000060671 |
| Gene Name |
ATPase, class I, type 8B, member 2 |
| Synonyms |
Id |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
IGL02313
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89857160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 400
(N400S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000168276]
[ENSMUST00000170739]
[ENSMUST00000170696]
|
| AlphaFold |
P98199 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069805
AA Change: N419S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: N419S
| 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: N400S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: N400S
| 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 |
noncoding transcript
Transcript: ENSMUST00000166705
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167257
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168276
AA Change: N400S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: N400S
| 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: ENSMUST00000171818
|
| 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: ENSMUST00000170696
|
| SMART Domains |
Protein: ENSMUSP00000126142
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E1-E2_ATPase
|
1 |
128 |
4.8e-9 |
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 |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13c |
T |
A |
3: 157,653,571 (GRCm39) |
N136K |
probably damaging |
Het |
| Aph1b |
A |
T |
9: 66,697,955 (GRCm39) |
|
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,583,718 (GRCm39) |
K1250E |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,462,126 (GRCm39) |
S630Y |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,807,595 (GRCm39) |
E1873V |
probably damaging |
Het |
| Chrna10 |
T |
C |
7: 101,761,236 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,739,328 (GRCm39) |
L907P |
probably damaging |
Het |
| Cxcr6 |
A |
G |
9: 123,639,770 (GRCm39) |
N264S |
probably damaging |
Het |
| Cyria |
A |
G |
12: 12,414,752 (GRCm39) |
T248A |
possibly damaging |
Het |
| Dgkg |
A |
G |
16: 22,388,980 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
T |
G |
14: 67,061,839 (GRCm39) |
M256L |
probably benign |
Het |
| Dsp |
G |
T |
13: 38,380,499 (GRCm39) |
E1816* |
probably null |
Het |
| Fam13b |
T |
C |
18: 34,587,709 (GRCm39) |
K530E |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,648,090 (GRCm39) |
H242R |
probably damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,166,420 (GRCm39) |
H145Q |
possibly damaging |
Het |
| Heatr6 |
T |
C |
11: 83,669,718 (GRCm39) |
L910P |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,343,617 (GRCm39) |
T4642A |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,235,700 (GRCm39) |
T167A |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,111 (GRCm39) |
L690P |
probably benign |
Het |
| Klhdc10 |
G |
A |
6: 30,439,865 (GRCm39) |
|
probably null |
Het |
| Krt31 |
A |
G |
11: 99,939,222 (GRCm39) |
Y232H |
probably damaging |
Het |
| Lsm3 |
A |
G |
6: 91,493,070 (GRCm39) |
|
probably benign |
Het |
| Mfn2 |
T |
A |
4: 147,969,947 (GRCm39) |
I375F |
probably damaging |
Het |
| Mfrp |
A |
T |
9: 44,014,171 (GRCm39) |
I180F |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,485,820 (GRCm39) |
E168G |
possibly damaging |
Het |
| Naa16 |
A |
T |
14: 79,622,108 (GRCm39) |
V77D |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,208,521 (GRCm39) |
S1570P |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,055,504 (GRCm39) |
R305G |
possibly damaging |
Het |
| Numa1 |
C |
T |
7: 101,649,439 (GRCm39) |
R1057* |
probably null |
Het |
| Nup210l |
G |
A |
3: 90,030,099 (GRCm39) |
A271T |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,305,400 (GRCm39) |
V965A |
probably damaging |
Het |
| Or10h28 |
C |
A |
17: 33,488,639 (GRCm39) |
Q314K |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,473 (GRCm39) |
V273E |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,772 (GRCm39) |
L53P |
probably damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,671 (GRCm39) |
N140I |
probably damaging |
Het |
| Or8b51 |
T |
A |
9: 38,569,362 (GRCm39) |
I109F |
probably damaging |
Het |
| Pdp2 |
A |
T |
8: 105,321,531 (GRCm39) |
Q460L |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,047,141 (GRCm39) |
T270A |
probably benign |
Het |
| Pkp4 |
C |
T |
2: 59,140,598 (GRCm39) |
Q435* |
probably null |
Het |
| Prss32 |
G |
A |
17: 24,075,096 (GRCm39) |
V149M |
probably benign |
Het |
| Riox2 |
C |
A |
16: 59,309,780 (GRCm39) |
P378Q |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rsph4a |
T |
A |
10: 33,781,521 (GRCm39) |
S124T |
possibly damaging |
Het |
| Sdccag8 |
G |
A |
1: 176,652,321 (GRCm39) |
R24H |
possibly damaging |
Het |
| Slc22a1 |
C |
A |
17: 12,894,387 (GRCm39) |
G54* |
probably null |
Het |
| Slc24a5 |
C |
T |
2: 124,927,567 (GRCm39) |
|
probably benign |
Het |
| Tex101 |
C |
T |
7: 24,367,750 (GRCm39) |
V201M |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,956 (GRCm39) |
Y223C |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,492,388 (GRCm39) |
E382G |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,223,565 (GRCm39) |
Y575N |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,214,376 (GRCm39) |
I259V |
probably damaging |
Het |
| Xpo1 |
T |
A |
11: 23,227,065 (GRCm39) |
N131K |
probably damaging |
Het |
| Zfp579 |
C |
T |
7: 4,997,432 (GRCm39) |
V160M |
probably benign |
Het |
| Zfp697 |
A |
G |
3: 98,332,766 (GRCm39) |
D64G |
probably benign |
Het |
| Zfp974 |
T |
C |
7: 27,611,678 (GRCm39) |
T16A |
possibly damaging |
Het |
|
| Other mutations in Atp8b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation