Incidental Mutation 'R5663:Atp8b2'
| ID |
444186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b2
|
| Ensembl Gene |
ENSMUSG00000060671 |
| Gene Name |
ATPase, class I, type 8B, member 2 |
| Synonyms |
Id |
| MMRRC Submission |
043306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R5663 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89849101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1078
(N1078D)
|
| 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: N1078D
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: N1078D
| 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: N1083D
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: N1083D
| 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: N1059D
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: N1059D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
T |
C |
5: 50,156,627 (GRCm39) |
N368D |
probably benign |
Het |
| Agfg1 |
T |
A |
1: 82,871,173 (GRCm39) |
S444R |
probably damaging |
Het |
| Arhgap44 |
A |
T |
11: 64,915,117 (GRCm39) |
F384I |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,902,920 (GRCm39) |
T286I |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,297 (GRCm39) |
L624P |
probably damaging |
Het |
| Ccn5 |
G |
A |
2: 163,667,173 (GRCm39) |
R58Q |
probably damaging |
Het |
| Cimip1 |
C |
T |
2: 173,369,690 (GRCm39) |
P68L |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,574,308 (GRCm39) |
F994L |
probably damaging |
Het |
| Dpp6 |
A |
G |
5: 27,254,620 (GRCm39) |
I12V |
possibly damaging |
Het |
| Edil3 |
A |
G |
13: 89,190,627 (GRCm39) |
I101M |
probably damaging |
Het |
| Elapor1 |
T |
C |
3: 108,399,399 (GRCm39) |
T64A |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,497,735 (GRCm39) |
V255A |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,579,740 (GRCm39) |
T822A |
probably benign |
Het |
| Fzr1 |
A |
G |
10: 81,206,360 (GRCm39) |
S137P |
probably benign |
Het |
| H2-Eb2 |
T |
C |
17: 34,552,382 (GRCm39) |
F76L |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,941,698 (GRCm39) |
I330T |
possibly damaging |
Het |
| Il18rap |
T |
A |
1: 40,570,717 (GRCm39) |
C220S |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,317,585 (GRCm39) |
V966A |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,558,373 (GRCm39) |
V1460A |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,820,916 (GRCm39) |
|
probably null |
Het |
| Liat1 |
A |
G |
11: 75,891,047 (GRCm39) |
K54E |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,503,949 (GRCm39) |
V497A |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,271,688 (GRCm39) |
E621G |
possibly damaging |
Het |
| Mier1 |
T |
A |
4: 103,007,739 (GRCm39) |
S285T |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,760,437 (GRCm39) |
S46P |
probably benign |
Het |
| Myo1h |
A |
T |
5: 114,472,155 (GRCm39) |
Q395L |
probably damaging |
Het |
| Ndufb5 |
T |
C |
3: 32,801,898 (GRCm39) |
I86T |
possibly damaging |
Het |
| Nelfb |
T |
A |
2: 25,093,501 (GRCm39) |
E417V |
probably benign |
Het |
| Nfkb1 |
T |
G |
3: 135,309,612 (GRCm39) |
D494A |
possibly damaging |
Het |
| Nid1 |
G |
A |
13: 13,647,419 (GRCm39) |
C395Y |
probably damaging |
Het |
| Nr4a3 |
G |
T |
4: 48,055,931 (GRCm39) |
R319I |
probably damaging |
Het |
| Or2ag13 |
T |
A |
7: 106,472,877 (GRCm39) |
T192S |
probably benign |
Het |
| Or4e1 |
A |
T |
14: 52,701,052 (GRCm39) |
I138K |
probably benign |
Het |
| Or6f2 |
G |
A |
7: 139,756,234 (GRCm39) |
C67Y |
probably damaging |
Het |
| Paqr5 |
A |
G |
9: 61,876,144 (GRCm39) |
V130A |
probably benign |
Het |
| Phlpp2 |
G |
A |
8: 110,630,976 (GRCm39) |
V207I |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,516,928 (GRCm39) |
T1052M |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,255,187 (GRCm39) |
Y347H |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,035,142 (GRCm39) |
H1964R |
probably damaging |
Het |
| Rassf7 |
C |
T |
7: 140,797,003 (GRCm39) |
T72I |
probably damaging |
Het |
| Rfx3 |
A |
G |
19: 27,771,017 (GRCm39) |
F603S |
probably damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,702,382 (GRCm39) |
V477D |
probably damaging |
Het |
| Slc9a3 |
A |
C |
13: 74,311,831 (GRCm39) |
D593A |
probably damaging |
Het |
| Smyd1 |
A |
G |
6: 71,216,705 (GRCm39) |
I14T |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,149,289 (GRCm39) |
I404L |
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,677,520 (GRCm39) |
H151Y |
probably benign |
Het |
| Tgfb1 |
C |
T |
7: 25,393,706 (GRCm39) |
T192M |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
| Whrn |
T |
A |
4: 63,336,685 (GRCm39) |
N626Y |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,535,250 (GRCm39) |
I185N |
probably damaging |
Het |
| Zfp94 |
G |
A |
7: 24,002,252 (GRCm39) |
R397W |
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 |
|
|
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'- TCTGTCACATTGCAGCTGC -3'
(R):5'- GGAGATTCCTTGACTGAGATGG -3'
Sequencing Primer
(F):5'- TTCAGGCTAAGCCTGAG -3'
(R):5'- CCTTGACTGAGATGGTTAAAGAAAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation