Incidental Mutation 'R3741:Atp8b2'
| ID |
270361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b2
|
| Ensembl Gene |
ENSMUSG00000060671 |
| Gene Name |
ATPase, class I, type 8B, member 2 |
| Synonyms |
Id |
| MMRRC Submission |
040727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R3741 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 89853338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 726
(A726P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000166502]
[ENSMUST00000168276]
[ENSMUST00000170739]
|
| AlphaFold |
P98199 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069805
AA Change: A745P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: A745P
| 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: A750P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: A750P
| 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 |
unknown
Transcript: ENSMUST00000171941
AA Change: A60P
|
| SMART Domains |
Protein: ENSMUSP00000130545
Gene: ENSMUSG00000060671
AA Change: A60P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAD
|
2 |
158 |
3.3e-8 |
PFAM |
|
Pfam:Hydrolase_3
|
124 |
167 |
1.7e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168276
AA Change: A726P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: A726P
| 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: ENSMUST00000171818
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
97% (37/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspm |
T |
C |
1: 139,406,357 (GRCm39) |
V1748A |
possibly damaging |
Het |
| Atp10b |
A |
T |
11: 43,126,489 (GRCm39) |
S1082C |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bbip1 |
T |
C |
19: 53,920,606 (GRCm39) |
M1V |
probably null |
Het |
| Bbox1 |
A |
G |
2: 110,135,922 (GRCm39) |
I19T |
possibly damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,334,828 (GRCm39) |
H41Q |
probably benign |
Het |
| Ctsm |
T |
A |
13: 61,687,441 (GRCm39) |
Q107L |
probably benign |
Het |
| Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
| Cyp2a4 |
A |
C |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,896,014 (GRCm39) |
S701P |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,987,424 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,095,076 (GRCm39) |
M718T |
probably benign |
Het |
| Dnah2 |
C |
A |
11: 69,339,295 (GRCm39) |
A3071S |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 33,961,155 (GRCm39) |
|
probably null |
Het |
| Fam135a |
A |
T |
1: 24,053,892 (GRCm39) |
M1215K |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
A |
G |
12: 108,284,976 (GRCm39) |
Y443C |
probably damaging |
Het |
| Hoxc13 |
G |
A |
15: 102,829,873 (GRCm39) |
G84D |
possibly damaging |
Het |
| Ifi207 |
T |
C |
1: 173,555,128 (GRCm39) |
I851M |
probably damaging |
Het |
| Lipk |
T |
G |
19: 33,999,107 (GRCm39) |
L134R |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
| Msrb3 |
A |
T |
10: 120,620,119 (GRCm39) |
F67I |
probably damaging |
Het |
| Myo1a |
A |
G |
10: 127,550,767 (GRCm39) |
D593G |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
| Optn |
C |
A |
2: 5,039,009 (GRCm39) |
M371I |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,443,667 (GRCm39) |
V380D |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,064 (GRCm39) |
C311R |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,874,167 (GRCm39) |
D377G |
probably damaging |
Het |
| Sbp |
T |
A |
17: 24,164,556 (GRCm39) |
|
probably benign |
Het |
| Sipa1 |
T |
C |
19: 5,704,885 (GRCm39) |
E570G |
probably damaging |
Het |
| Spem2 |
T |
C |
11: 69,707,556 (GRCm39) |
R470G |
possibly damaging |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
| Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,620,703 (GRCm39) |
K13995* |
probably null |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,069 (GRCm39) |
Y221H |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,170 (GRCm39) |
L296* |
probably null |
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 |
|
|
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'- CTATGGGCAAGCACTCAACAAG -3'
(R):5'- ACGACATGACAGAGGTGTTTG -3'
Sequencing Primer
(F):5'- AACAAGGTCTGAGCACTGTCCTG -3'
(R):5'- GTTTGTAGTCACAGGCCACACTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation