Incidental Mutation 'R6972:Plscr3'
| ID |
542311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plscr3
|
| Ensembl Gene |
ENSMUSG00000019461 |
| Gene Name |
phospholipid scramblase 3 |
| Synonyms |
2210403O21Rik, 2610037N06Rik |
| MMRRC Submission |
045082-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6972 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69737202-69742884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69738784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 149
(E149K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123549
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001626]
[ENSMUST00000019605]
[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: E149K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019605
Gene: ENSMUSG00000019461
AA Change: E149K
| 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: 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: E149K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104272
Gene: ENSMUSG00000019461
AA Change: E149K
| 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: E149K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104273
Gene: ENSMUSG00000019461
AA Change: E149K
| 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: ENSMUST00000152566
AA Change: E149K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123549
Gene: ENSMUSG00000019461
AA Change: E149K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
A |
G |
7: 79,003,775 (GRCm39) |
S285G |
probably benign |
Het |
| Afg1l |
T |
C |
10: 42,354,370 (GRCm39) |
T10A |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
| B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,174,269 (GRCm39) |
E2089G |
probably null |
Het |
| Calcrl |
T |
G |
2: 84,198,922 (GRCm39) |
I156L |
probably benign |
Het |
| Cd69 |
T |
C |
6: 129,246,543 (GRCm39) |
S122G |
probably benign |
Het |
| Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,436,658 (GRCm39) |
I1586K |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,124,483 (GRCm39) |
A523T |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,723,971 (GRCm39) |
C466* |
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,842,439 (GRCm39) |
I220V |
probably benign |
Het |
| Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,546,755 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
G |
11: 77,390,347 (GRCm39) |
V64G |
probably damaging |
Het |
| Gpr162 |
C |
T |
6: 124,838,272 (GRCm39) |
R126H |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,252,131 (GRCm39) |
V127A |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,653,750 (GRCm39) |
D665G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,959,144 (GRCm39) |
I233V |
probably damaging |
Het |
| Lmcd1 |
C |
T |
6: 112,287,659 (GRCm39) |
T115I |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
| Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,906 (GRCm39) |
S230P |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,817,196 (GRCm39) |
Q164R |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,745 (GRCm39) |
V617E |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pltp |
A |
G |
2: 164,688,512 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
A |
G |
4: 143,623,472 (GRCm39) |
L234P |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,812,617 (GRCm39) |
R109H |
probably benign |
Het |
| Ptprj |
G |
A |
2: 90,410,747 (GRCm39) |
S62F |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,607 (GRCm39) |
Y218N |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,116,089 (GRCm39) |
S240T |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,404 (GRCm39) |
V409A |
possibly damaging |
Het |
| Tafa2 |
A |
G |
10: 123,540,278 (GRCm39) |
T45A |
probably benign |
Het |
| Trim29 |
T |
A |
9: 43,238,409 (GRCm39) |
N504K |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,202 (GRCm39) |
Y461H |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,330 (GRCm39) |
K531E |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
possibly damaging |
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 |
|
|
R0256:Plscr3
|
UTSW |
11 |
69,740,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- GGAGCAAGATGGGCTTCATG -3'
(R):5'- TGCCAGCTGTCTTCTGACTG -3'
Sequencing Primer
(F):5'- CAAGATGGGCTTCATGATCTTTATG -3'
(R):5'- TGACTGTTCAGACCCTCAAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation