Incidental Mutation 'R2971:Plscr2'
ID |
265681 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plscr2
|
Ensembl Gene |
ENSMUSG00000032372 |
Gene Name |
phospholipid scramblase 2 |
Synonyms |
PL scramblase |
MMRRC Submission |
040525-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2971 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
92157655-92179805 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 92172724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 128
(E128*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034932]
[ENSMUST00000113044]
[ENSMUST00000180154]
|
AlphaFold |
Q9DCW2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034932
AA Change: E128*
|
SMART Domains |
Protein: ENSMUSP00000034932 Gene: ENSMUSG00000032372 AA Change: E128*
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 |
probably null
Transcript: ENSMUST00000180154
AA Change: E128*
|
SMART Domains |
Protein: ENSMUSP00000136481 Gene: ENSMUSG00000032372 AA Change: E128*
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
Pfam:Scramblase
|
84 |
305 |
5.1e-94 |
PFAM |
|
Meta Mutation Damage Score |
0.9713 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,749,447 (GRCm39) |
D1406G |
possibly damaging |
Het |
Aebp2 |
T |
C |
6: 140,579,624 (GRCm39) |
|
probably null |
Het |
Ap5m1 |
T |
A |
14: 49,321,339 (GRCm39) |
Y49* |
probably null |
Het |
Atp8b5 |
T |
C |
4: 43,361,953 (GRCm39) |
|
probably benign |
Het |
Baz1a |
A |
G |
12: 54,970,224 (GRCm39) |
S518P |
probably damaging |
Het |
Ces1c |
T |
A |
8: 93,830,821 (GRCm39) |
D445V |
probably benign |
Het |
Ctnnbl1 |
C |
T |
2: 157,713,106 (GRCm39) |
H464Y |
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,420,018 (GRCm39) |
K238E |
probably benign |
Het |
Gdf10 |
G |
A |
14: 33,646,148 (GRCm39) |
R99H |
probably damaging |
Het |
Gm4779 |
G |
A |
X: 100,836,568 (GRCm39) |
P116L |
possibly damaging |
Het |
Gucy2g |
A |
G |
19: 55,198,708 (GRCm39) |
S812P |
probably damaging |
Het |
Ifit3b |
C |
T |
19: 34,589,417 (GRCm39) |
Q198* |
probably null |
Het |
Irgm1 |
A |
T |
11: 48,757,417 (GRCm39) |
Y131* |
probably null |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,474,175 (GRCm39) |
N1630S |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nme6 |
A |
G |
9: 109,671,159 (GRCm39) |
|
probably benign |
Het |
Or11g25 |
T |
A |
14: 50,723,065 (GRCm39) |
I50N |
probably damaging |
Het |
Or5al6 |
T |
C |
2: 85,976,908 (GRCm39) |
T57A |
probably damaging |
Het |
Plch2 |
T |
G |
4: 155,075,224 (GRCm39) |
M797L |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,480,039 (GRCm39) |
D1403E |
probably damaging |
Het |
Pou6f2 |
T |
C |
13: 18,556,552 (GRCm39) |
T25A |
unknown |
Het |
Psmb11 |
T |
C |
14: 54,862,800 (GRCm39) |
V6A |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptprd |
T |
G |
4: 76,025,561 (GRCm39) |
S546R |
probably benign |
Het |
Rbp3 |
A |
G |
14: 33,676,411 (GRCm39) |
N120D |
probably benign |
Het |
Skint1 |
C |
A |
4: 111,878,527 (GRCm39) |
P153H |
possibly damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Tmem201 |
A |
G |
4: 149,806,902 (GRCm39) |
|
probably benign |
Het |
Ube2v1 |
T |
C |
2: 167,452,256 (GRCm39) |
N89D |
probably damaging |
Het |
Zfp282 |
A |
T |
6: 47,874,866 (GRCm39) |
|
probably null |
Het |
Zfp560 |
C |
A |
9: 20,260,240 (GRCm39) |
M207I |
probably benign |
Het |
Zfp697 |
T |
C |
3: 98,335,617 (GRCm39) |
Y461H |
probably damaging |
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 |
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 |
R4528:Plscr2
|
UTSW |
9 |
92,171,746 (GRCm39) |
missense |
possibly damaging |
0.87 |
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'- GCCATTTCCTGAGTCCAGATC -3'
(R):5'- AAGCTGCTATGGTTACTTCACAC -3'
Sequencing Primer
(F):5'- GAGTCCAGATCATCTCCGCACTG -3'
(R):5'- TCACACTGACCTCCTGGAG -3'
|
Posted On |
2015-02-05 |