Incidental Mutation 'R4528:Plscr2'
ID |
333003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plscr2
|
Ensembl Gene |
ENSMUSG00000032372 |
Gene Name |
phospholipid scramblase 2 |
Synonyms |
PL scramblase |
MMRRC Submission |
041769-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4528 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
92157655-92179805 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 92171746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 113
(E113K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034932]
[ENSMUST00000113044]
[ENSMUST00000180154]
|
AlphaFold |
Q9DCW2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034932
AA Change: E113K
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000034932 Gene: ENSMUSG00000032372 AA Change: E113K
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
Pfam:Scramblase
|
84 |
305 |
5.1e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113044
|
SMART Domains |
Protein: ENSMUSP00000108667 Gene: ENSMUSG00000032372
Domain | Start | End | E-Value | Type |
Pfam:Scramblase
|
1 |
170 |
5.8e-71 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156772
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180154
AA Change: E113K
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000136481 Gene: ENSMUSG00000032372 AA Change: E113K
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
Pfam:Scramblase
|
84 |
305 |
5.1e-94 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atm |
A |
T |
9: 53,412,059 (GRCm39) |
I999K |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,656,515 (GRCm39) |
E535G |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cenpu |
G |
T |
8: 47,015,457 (GRCm39) |
G34* |
probably null |
Het |
Col7a1 |
C |
A |
9: 108,788,601 (GRCm39) |
A739D |
unknown |
Het |
Coro1b |
T |
C |
19: 4,199,980 (GRCm39) |
V107A |
probably benign |
Het |
Cpeb3 |
T |
C |
19: 37,116,488 (GRCm39) |
D381G |
possibly damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,634,194 (GRCm39) |
D320G |
possibly damaging |
Het |
Dcaf1 |
A |
T |
9: 106,721,403 (GRCm39) |
K398N |
probably damaging |
Het |
Etfa |
A |
G |
9: 55,407,334 (GRCm39) |
S52P |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,945,443 (GRCm39) |
H1445Q |
probably benign |
Het |
Foxred2 |
T |
A |
15: 77,827,449 (GRCm39) |
M637L |
probably benign |
Het |
Gbe1 |
A |
T |
16: 70,275,225 (GRCm39) |
I342L |
probably benign |
Het |
Gm14410 |
A |
T |
2: 176,885,736 (GRCm39) |
I176K |
probably benign |
Het |
Gm14410 |
G |
T |
2: 176,885,734 (GRCm39) |
H177N |
probably damaging |
Het |
Gm1527 |
T |
A |
3: 28,968,542 (GRCm39) |
M198K |
probably damaging |
Het |
Hr |
T |
C |
14: 70,803,823 (GRCm39) |
L838P |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,678,556 (GRCm39) |
S212P |
possibly damaging |
Het |
Lims1 |
T |
C |
10: 58,245,882 (GRCm39) |
C180R |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,297,088 (GRCm39) |
S2649T |
probably damaging |
Het |
Or10x1 |
T |
A |
1: 174,196,822 (GRCm39) |
L113H |
probably damaging |
Het |
Or4f57 |
T |
C |
2: 111,791,293 (GRCm39) |
N42D |
probably damaging |
Het |
Or51t4 |
A |
G |
7: 102,598,013 (GRCm39) |
M104V |
probably damaging |
Het |
Pde4dip |
C |
T |
3: 97,624,338 (GRCm39) |
E1399K |
probably damaging |
Het |
Pex1 |
T |
C |
5: 3,681,712 (GRCm39) |
Y1053H |
probably damaging |
Het |
Pus1 |
T |
C |
5: 110,922,596 (GRCm39) |
Y309C |
probably damaging |
Het |
Scube3 |
T |
A |
17: 28,381,973 (GRCm39) |
V333D |
possibly damaging |
Het |
Serpina11 |
A |
T |
12: 103,952,592 (GRCm39) |
N66K |
probably benign |
Het |
Thtpa |
T |
A |
14: 55,333,039 (GRCm39) |
D41E |
probably damaging |
Het |
Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
Tlr12 |
A |
C |
4: 128,511,818 (GRCm39) |
L144R |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,861,102 (GRCm39) |
E964G |
possibly damaging |
Het |
Ugt1a6b |
T |
A |
1: 88,035,301 (GRCm39) |
I213N |
probably damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Zbtb43 |
A |
G |
2: 33,352,337 (GRCm39) |
|
probably benign |
Het |
Zfp985 |
A |
T |
4: 147,667,347 (GRCm39) |
I72F |
possibly damaging |
Het |
Zfpm1 |
G |
A |
8: 123,062,381 (GRCm39) |
R480H |
probably benign |
Het |
|
Other mutations in Plscr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Plscr2
|
APN |
9 |
92,172,685 (GRCm39) |
splice site |
probably benign |
|
IGL02496:Plscr2
|
APN |
9 |
92,171,716 (GRCm39) |
missense |
probably benign |
0.12 |
R0401:Plscr2
|
UTSW |
9 |
92,164,188 (GRCm39) |
missense |
probably benign |
|
R0620:Plscr2
|
UTSW |
9 |
92,169,707 (GRCm39) |
missense |
probably benign |
0.10 |
R0879:Plscr2
|
UTSW |
9 |
92,169,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R1829:Plscr2
|
UTSW |
9 |
92,172,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R2022:Plscr2
|
UTSW |
9 |
92,177,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R2237:Plscr2
|
UTSW |
9 |
92,172,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R2971:Plscr2
|
UTSW |
9 |
92,172,724 (GRCm39) |
nonsense |
probably null |
|
R3552:Plscr2
|
UTSW |
9 |
92,172,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R3762:Plscr2
|
UTSW |
9 |
92,173,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R4214:Plscr2
|
UTSW |
9 |
92,169,790 (GRCm39) |
missense |
probably benign |
0.09 |
R4679:Plscr2
|
UTSW |
9 |
92,169,823 (GRCm39) |
missense |
probably benign |
0.13 |
R4708:Plscr2
|
UTSW |
9 |
92,173,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R4709:Plscr2
|
UTSW |
9 |
92,173,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Plscr2
|
UTSW |
9 |
92,173,130 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5244:Plscr2
|
UTSW |
9 |
92,173,102 (GRCm39) |
missense |
probably benign |
0.33 |
R6102:Plscr2
|
UTSW |
9 |
92,169,721 (GRCm39) |
missense |
probably benign |
0.32 |
R6298:Plscr2
|
UTSW |
9 |
92,172,772 (GRCm39) |
missense |
probably benign |
0.05 |
R6893:Plscr2
|
UTSW |
9 |
92,172,757 (GRCm39) |
missense |
probably benign |
0.05 |
R7320:Plscr2
|
UTSW |
9 |
92,173,193 (GRCm39) |
critical splice donor site |
probably null |
|
R7876:Plscr2
|
UTSW |
9 |
92,169,781 (GRCm39) |
missense |
probably benign |
|
R8220:Plscr2
|
UTSW |
9 |
92,177,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R8340:Plscr2
|
UTSW |
9 |
92,173,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAATCAATCTTGTCTTCTGGAAAGA -3'
(R):5'- CCTACTTCTCAGAATTGGACAGGAGAT -3'
Sequencing Primer
(F):5'- GCAGTCAGTGTTCTTAACCACTGAG -3'
(R):5'- CTCAGAATTGGACAGGAGATAACATC -3'
|
Posted On |
2015-08-18 |