Incidental Mutation 'R5231:Plscr1'
| ID |
398532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plscr1
|
| Ensembl Gene |
ENSMUSG00000032369 |
| Gene Name |
phospholipid scramblase 1 |
| Synonyms |
Tras1, TRA1, NOR1, MmTRA1a, MmTRA1b, Tras2, MuPLSCR2 |
| MMRRC Submission |
042803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
92132265-92154034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 92148784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 208
(P208H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093801]
[ENSMUST00000186364]
|
| AlphaFold |
Q9JJ00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093801
AA Change: P208H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091318
Gene: ENSMUSG00000032369
AA Change: P208H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
72 |
N/A |
INTRINSIC |
|
Pfam:Scramblase
|
95 |
316 |
2.4e-100 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183558
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186364
AA Change: P208H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139479
Gene: ENSMUSG00000032369
AA Change: P208H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
72 |
N/A |
INTRINSIC |
|
Pfam:Scramblase
|
95 |
316 |
2.4e-100 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187952
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display a grossly normal phenotype although there are hematopoietic abnormalities in newborn mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
C |
10: 80,442,260 (GRCm39) |
S33P |
possibly damaging |
Het |
| Bche |
G |
A |
3: 73,608,194 (GRCm39) |
P411S |
probably benign |
Het |
| Chil3 |
A |
G |
3: 106,063,045 (GRCm39) |
S182P |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,902,730 (GRCm39) |
E1653G |
probably damaging |
Het |
| Csk |
G |
T |
9: 57,537,661 (GRCm39) |
H84Q |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,439,842 (GRCm39) |
T3099A |
probably benign |
Het |
| Deup1 |
G |
T |
9: 15,486,495 (GRCm39) |
A395E |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,429,716 (GRCm39) |
Y2778C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,894,474 (GRCm39) |
T2031A |
probably benign |
Het |
| Ighv1-53 |
C |
A |
12: 115,122,225 (GRCm39) |
S50I |
probably benign |
Het |
| Ighv1-62-3 |
A |
T |
12: 115,424,671 (GRCm39) |
M100K |
possibly damaging |
Het |
| Igkv2-109 |
T |
A |
6: 68,279,429 (GRCm39) |
F3I |
probably benign |
Het |
| Isl1 |
T |
C |
13: 116,438,193 (GRCm39) |
D296G |
probably benign |
Het |
| Klk1b16 |
T |
A |
7: 43,786,771 (GRCm39) |
L10Q |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,471 (GRCm39) |
S1880T |
possibly damaging |
Het |
| Lhcgr |
T |
A |
17: 89,063,039 (GRCm39) |
N211I |
probably damaging |
Het |
| Ltb |
C |
T |
17: 35,414,802 (GRCm39) |
L201F |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,853,094 (GRCm39) |
F64S |
possibly damaging |
Het |
| Mmp10 |
T |
C |
9: 7,502,501 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
C |
14: 103,583,650 (GRCm39) |
|
probably null |
Het |
| Or1e34 |
C |
A |
11: 73,778,781 (GRCm39) |
C139F |
probably damaging |
Het |
| Or52e2 |
A |
T |
7: 102,804,175 (GRCm39) |
F260I |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,077 (GRCm39) |
I286V |
possibly damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,711 (GRCm39) |
I81N |
probably damaging |
Het |
| Peg10 |
C |
T |
6: 4,756,939 (GRCm39) |
|
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,118,160 (GRCm39) |
|
probably null |
Het |
| Rpl15-ps6 |
T |
C |
15: 52,341,440 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcc2 |
T |
C |
10: 128,297,221 (GRCm39) |
Y38H |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,723,032 (GRCm39) |
H716L |
possibly damaging |
Het |
| Stat2 |
T |
C |
10: 128,117,111 (GRCm39) |
|
probably null |
Het |
| Trip11 |
T |
C |
12: 101,851,860 (GRCm39) |
K735E |
probably damaging |
Het |
| Ttll1 |
T |
A |
15: 83,373,667 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
A |
7: 9,209,594 (GRCm39) |
L639F |
possibly damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,786,448 (GRCm39) |
Q417L |
possibly damaging |
Het |
| Vps8 |
A |
T |
16: 21,395,475 (GRCm39) |
D1255V |
probably damaging |
Het |
| Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,586 (GRCm39) |
Y172C |
probably damaging |
Het |
|
| Other mutations in Plscr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00573:Plscr1
|
APN |
9 |
92,146,732 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01592:Plscr1
|
APN |
9 |
92,148,803 (GRCm39) |
nonsense |
probably null |
|
|
IGL03139:Plscr1
|
APN |
9 |
92,148,438 (GRCm39) |
splice site |
probably benign |
|
|
IGL03291:Plscr1
|
APN |
9 |
92,148,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Plscr1
|
UTSW |
9 |
92,145,150 (GRCm39) |
nonsense |
probably null |
|
|
R0543:Plscr1
|
UTSW |
9 |
92,140,099 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1344:Plscr1
|
UTSW |
9 |
92,141,357 (GRCm39) |
missense |
unknown |
|
|
R1618:Plscr1
|
UTSW |
9 |
92,148,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1840:Plscr1
|
UTSW |
9 |
92,140,127 (GRCm39) |
missense |
unknown |
|
|
R4726:Plscr1
|
UTSW |
9 |
92,145,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5632:Plscr1
|
UTSW |
9 |
92,148,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6245:Plscr1
|
UTSW |
9 |
92,141,374 (GRCm39) |
missense |
unknown |
|
|
R6928:Plscr1
|
UTSW |
9 |
92,152,004 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7018:Plscr1
|
UTSW |
9 |
92,146,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Plscr1
|
UTSW |
9 |
92,153,588 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8269:Plscr1
|
UTSW |
9 |
92,145,095 (GRCm39) |
missense |
unknown |
|
|
R9658:Plscr1
|
UTSW |
9 |
92,148,535 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTGGGCCGAGAAGTCATG -3'
(R):5'- CGGGATACGTTCTTTTCATGTCAG -3'
Sequencing Primer
(F):5'- TCATGACTCTGGAGAGACCTCTGAG -3'
(R):5'- CGTTCTTTTCATGTCAGGAAAACAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation