Incidental Mutation 'R0256:Plscr3'
ID |
34748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plscr3
|
Ensembl Gene |
ENSMUSG00000019461 |
Gene Name |
phospholipid scramblase 3 |
Synonyms |
2210403O21Rik, 2610037N06Rik |
MMRRC Submission |
038487-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0256 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
69737202-69742884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69740880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 239
(K239E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001626]
[ENSMUST00000019605]
[ENSMUST00000108626]
[ENSMUST00000108628]
[ENSMUST00000108632]
[ENSMUST00000108633]
[ENSMUST00000152566]
[ENSMUST00000156507]
|
AlphaFold |
Q9JIZ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001626
|
SMART Domains |
Protein: ENSMUSP00000001626 Gene: ENSMUSG00000001583
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
Blast:TyrKc
|
43 |
80 |
1e-5 |
BLAST |
TyrKc
|
116 |
378 |
1.2e-108 |
SMART |
SH3
|
384 |
440 |
4.11e-1 |
SMART |
low complexity region
|
504 |
517 |
N/A |
INTRINSIC |
low complexity region
|
528 |
544 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019605
AA Change: K239E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019605 Gene: ENSMUSG00000019461 AA Change: K239E
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
Pfam:Scramblase
|
63 |
285 |
1.7e-88 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108626
|
SMART Domains |
Protein: ENSMUSP00000104266 Gene: ENSMUSG00000001583
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
Blast:TyrKc
|
43 |
80 |
6e-6 |
BLAST |
TyrKc
|
116 |
378 |
1.2e-108 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108628
|
SMART Domains |
Protein: ENSMUSP00000104268 Gene: ENSMUSG00000001583
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
Blast:TyrKc
|
43 |
80 |
1e-5 |
BLAST |
TyrKc
|
116 |
378 |
1.2e-108 |
SMART |
SH3
|
384 |
445 |
6.1e-1 |
SMART |
low complexity region
|
509 |
522 |
N/A |
INTRINSIC |
low complexity region
|
533 |
549 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108632
AA Change: K239E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104272 Gene: ENSMUSG00000019461 AA Change: K239E
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
Pfam:Scramblase
|
63 |
285 |
1.7e-88 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108633
AA Change: K239E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104273 Gene: ENSMUSG00000019461 AA Change: K239E
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
Pfam:Scramblase
|
63 |
285 |
1.7e-88 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152566
|
SMART Domains |
Protein: ENSMUSP00000123549 Gene: ENSMUSG00000019461
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
Pfam:Scramblase
|
63 |
224 |
2.1e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156507
|
SMART Domains |
Protein: ENSMUSP00000120585 Gene: ENSMUSG00000001583
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
1 |
76 |
8.4e-17 |
PFAM |
Pfam:Pkinase
|
1 |
97 |
1.2e-6 |
PFAM |
low complexity region
|
127 |
140 |
N/A |
INTRINSIC |
low complexity region
|
151 |
167 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.8726 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.6%
- 10x: 95.8%
- 20x: 92.8%
|
Validation Efficiency |
98% (48/49) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice display lipid-engorged adipocytes, increased abdominal fat stores, mild hyperglycemia, dyslipidemia, impaired glucose tolerance, insulin resistance, altered plasma adiponectin and leptin levels, and impaired insulin-stimulated glucose uptake by adipocytes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
G |
T |
10: 29,098,252 (GRCm39) |
L186F |
probably damaging |
Het |
Abce1 |
A |
C |
8: 80,412,572 (GRCm39) |
|
probably null |
Het |
Acvrl1 |
A |
T |
15: 101,035,002 (GRCm39) |
N254Y |
probably damaging |
Het |
Apip |
T |
A |
2: 102,918,916 (GRCm39) |
M72K |
possibly damaging |
Het |
Arg1 |
A |
G |
10: 24,792,356 (GRCm39) |
Y188H |
probably benign |
Het |
Armc3 |
A |
T |
2: 19,274,027 (GRCm39) |
N354Y |
probably damaging |
Het |
Arrdc5 |
A |
G |
17: 56,601,382 (GRCm39) |
F248L |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,302,576 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
G |
T |
3: 36,971,922 (GRCm39) |
V552L |
probably benign |
Het |
Ccdc154 |
C |
T |
17: 25,389,606 (GRCm39) |
A490V |
probably benign |
Het |
Cdh6 |
T |
C |
15: 13,053,868 (GRCm39) |
|
probably benign |
Het |
Chmp2b |
G |
T |
16: 65,337,078 (GRCm39) |
T193K |
probably benign |
Het |
Clca3a1 |
A |
T |
3: 144,436,640 (GRCm39) |
N814K |
probably damaging |
Het |
Cmtr1 |
T |
C |
17: 29,916,098 (GRCm39) |
L576P |
probably damaging |
Het |
Fhl5 |
T |
C |
4: 25,213,624 (GRCm39) |
H104R |
probably benign |
Het |
Foxk1 |
A |
G |
5: 142,439,436 (GRCm39) |
|
probably benign |
Het |
Gm11596 |
T |
A |
11: 99,683,542 (GRCm39) |
T193S |
unknown |
Het |
Gm15217 |
A |
T |
14: 46,617,853 (GRCm39) |
|
probably benign |
Het |
Hic2 |
A |
G |
16: 17,075,377 (GRCm39) |
I69V |
probably benign |
Het |
Ivl |
T |
C |
3: 92,479,150 (GRCm39) |
D305G |
probably damaging |
Het |
Kcnn2 |
A |
G |
18: 45,725,472 (GRCm39) |
T323A |
probably damaging |
Het |
Krt7 |
C |
T |
15: 101,321,190 (GRCm39) |
Q336* |
probably null |
Het |
Krt73 |
T |
G |
15: 101,710,371 (GRCm39) |
D121A |
probably damaging |
Het |
Mok |
T |
C |
12: 110,774,539 (GRCm39) |
D216G |
probably damaging |
Het |
Muc17 |
A |
G |
5: 137,175,539 (GRCm39) |
C44R |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,395,132 (GRCm39) |
Y46C |
unknown |
Het |
Muc5b |
T |
C |
7: 141,396,995 (GRCm39) |
F223L |
unknown |
Het |
Noct |
A |
G |
3: 51,157,895 (GRCm39) |
D411G |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or5j1 |
T |
C |
2: 86,879,400 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6c76b |
A |
T |
10: 129,692,906 (GRCm39) |
D173V |
probably damaging |
Het |
Pigv |
T |
C |
4: 133,393,062 (GRCm39) |
H36R |
probably damaging |
Het |
Prkag3 |
T |
C |
1: 74,780,330 (GRCm39) |
D445G |
probably benign |
Het |
Ramp1 |
A |
T |
1: 91,124,641 (GRCm39) |
|
probably benign |
Het |
Ror1 |
T |
A |
4: 100,266,942 (GRCm39) |
H214Q |
probably benign |
Het |
Selenbp2 |
A |
T |
3: 94,607,008 (GRCm39) |
H156L |
probably benign |
Het |
Slc28a3 |
T |
C |
13: 58,721,314 (GRCm39) |
T284A |
probably benign |
Het |
Slc35a1 |
T |
C |
4: 34,668,962 (GRCm39) |
T284A |
probably benign |
Het |
Smco2 |
A |
T |
6: 146,763,244 (GRCm39) |
I184F |
probably damaging |
Het |
Son |
A |
G |
16: 91,453,472 (GRCm39) |
M740V |
possibly damaging |
Het |
Stil |
T |
A |
4: 114,880,882 (GRCm39) |
N475K |
possibly damaging |
Het |
Sval3 |
A |
G |
6: 41,949,839 (GRCm39) |
D122G |
probably damaging |
Het |
Tnks |
A |
G |
8: 35,328,701 (GRCm39) |
M623T |
probably benign |
Het |
Zfp142 |
A |
G |
1: 74,617,317 (GRCm39) |
V235A |
probably benign |
Het |
Zfp423 |
A |
T |
8: 88,500,262 (GRCm39) |
C1053* |
probably null |
Het |
Zfp648 |
T |
A |
1: 154,081,414 (GRCm39) |
D524E |
probably benign |
Het |
|
Other mutations in Plscr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01672:Plscr3
|
APN |
11 |
69,738,508 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02496:Plscr3
|
APN |
11 |
69,738,209 (GRCm39) |
unclassified |
probably benign |
|
R0639:Plscr3
|
UTSW |
11 |
69,738,820 (GRCm39) |
missense |
probably benign |
0.06 |
R3824:Plscr3
|
UTSW |
11 |
69,740,964 (GRCm39) |
missense |
probably benign |
0.04 |
R3825:Plscr3
|
UTSW |
11 |
69,740,964 (GRCm39) |
missense |
probably benign |
0.04 |
R3919:Plscr3
|
UTSW |
11 |
69,738,236 (GRCm39) |
unclassified |
probably benign |
|
R5047:Plscr3
|
UTSW |
11 |
69,740,917 (GRCm39) |
splice site |
probably null |
|
R6306:Plscr3
|
UTSW |
11 |
69,738,472 (GRCm39) |
splice site |
probably null |
|
R6972:Plscr3
|
UTSW |
11 |
69,738,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R7358:Plscr3
|
UTSW |
11 |
69,738,316 (GRCm39) |
missense |
unknown |
|
R8714:Plscr3
|
UTSW |
11 |
69,738,838 (GRCm39) |
missense |
probably benign |
0.01 |
R9667:Plscr3
|
UTSW |
11 |
69,738,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAACCCAACGCTATTGCGAAGAG -3'
(R):5'- AGGTCACCGTCAATGGGAGATCTG -3'
Sequencing Primer
(F):5'- CGAAGAGTTCCTGAGCAGTCTAC -3'
(R):5'- TACGTGTCCCTGACCTAGTAAGG -3'
|
Posted On |
2013-05-09 |