Incidental Mutation 'R0879:Plscr2'
| ID |
81931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plscr2
|
| Ensembl Gene |
ENSMUSG00000032372 |
| Gene Name |
phospholipid scramblase 2 |
| Synonyms |
PL scramblase |
| MMRRC Submission |
039046-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
92157655-92179805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92169846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 99
(Y99H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034932]
[ENSMUST00000113044]
[ENSMUST00000180154]
|
| AlphaFold |
Q9DCW2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034932
AA Change: Y99H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034932
Gene: ENSMUSG00000032372
AA Change: Y99H
| 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 damaging
Transcript: ENSMUST00000180154
AA Change: Y99H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136481
Gene: ENSMUSG00000032372
AA Change: Y99H
| 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 |
0.6185 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.3%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,524,892 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,559 (GRCm39) |
D25G |
possibly damaging |
Het |
| Adprs |
C |
T |
4: 126,210,410 (GRCm39) |
V357I |
probably benign |
Het |
| Akap6 |
G |
T |
12: 52,927,582 (GRCm39) |
R164L |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,957,173 (GRCm39) |
N972S |
probably damaging |
Het |
| Brd2 |
A |
T |
17: 34,332,420 (GRCm39) |
V232D |
probably benign |
Het |
| C6 |
A |
G |
15: 4,792,818 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
A |
C |
7: 17,491,627 (GRCm39) |
I666L |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,805,159 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,947,661 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,467,019 (GRCm39) |
V3615E |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
| Enpp2 |
T |
C |
15: 54,741,326 (GRCm39) |
E324G |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,295,313 (GRCm39) |
V222A |
probably damaging |
Het |
| Gm4076 |
A |
G |
13: 85,275,326 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4775 |
T |
C |
14: 106,338,227 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9b |
T |
C |
9: 27,245,038 (GRCm39) |
S1002P |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,942,001 (GRCm39) |
S244P |
possibly damaging |
Het |
| Klhl41 |
A |
T |
2: 69,513,827 (GRCm39) |
|
probably benign |
Het |
| Ltbr |
A |
G |
6: 125,290,338 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,037,896 (GRCm39) |
E804G |
possibly damaging |
Het |
| Mybpc1 |
G |
A |
10: 88,407,378 (GRCm39) |
|
probably benign |
Het |
| Npas4 |
T |
C |
19: 5,036,944 (GRCm39) |
R407G |
probably benign |
Het |
| Oxnad1 |
T |
A |
14: 31,821,553 (GRCm39) |
Y213N |
probably damaging |
Het |
| Pde6d |
A |
G |
1: 86,473,523 (GRCm39) |
F91S |
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,286,123 (GRCm39) |
|
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,404,705 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,860,588 (GRCm39) |
Y30C |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,606,863 (GRCm39) |
T108A |
possibly damaging |
Het |
| Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
T |
C |
9: 58,042,487 (GRCm39) |
|
probably null |
Het |
| Usp17le |
A |
T |
7: 104,418,854 (GRCm39) |
L96Q |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,418,855 (GRCm39) |
L96M |
possibly damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,662 (GRCm39) |
I184N |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,914,454 (GRCm39) |
V673A |
probably damaging |
Het |
| Wdr17 |
T |
G |
8: 55,114,516 (GRCm39) |
I667L |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,811,218 (GRCm39) |
T609A |
probably benign |
Het |
| Zfp821 |
T |
C |
8: 110,448,474 (GRCm39) |
I135T |
possibly damaging |
Het |
| Zfp865 |
A |
G |
7: 5,034,342 (GRCm39) |
T776A |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,734,757 (GRCm39) |
P477Q |
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 |
|
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 |
|
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'- ACCAAGTTCCCCAGTCTGGTTATCC -3'
(R):5'- ACCTGTTTGTGCTCAGTAATGAAGTCC -3'
Sequencing Primer
(F):5'- TGGTTATCCAGGACCTCAGG -3'
(R):5'- tccttggtctttgagcctg -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation