Incidental Mutation 'IGL02539:Plpp5'
| ID |
297645 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plpp5
|
| Ensembl Gene |
ENSMUSG00000031570 |
| Gene Name |
phospholipid phosphatase 5 |
| Synonyms |
2310022A04Rik, Ppapdc1b, 1810019D05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
IGL02539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26210064-26214914 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26214215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 244
(H244R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033975]
[ENSMUST00000068916]
[ENSMUST00000084026]
[ENSMUST00000124764]
[ENSMUST00000133117]
[ENSMUST00000138548]
[ENSMUST00000210629]
[ENSMUST00000211688]
[ENSMUST00000139836]
[ENSMUST00000145678]
[ENSMUST00000142395]
|
| AlphaFold |
Q3UMZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033975
|
| SMART Domains |
Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
25 |
N/A |
INTRINSIC |
|
Pfam:WWE
|
40 |
112 |
7.5e-9 |
PFAM |
|
Blast:DDHD
|
285 |
357 |
6e-28 |
BLAST |
|
SAM
|
382 |
447 |
1.13e-11 |
SMART |
|
DDHD
|
484 |
688 |
6.63e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068916
AA Change: H244R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067035
Gene: ENSMUSG00000031570
AA Change: H244R
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
85 |
224 |
3.08e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084026
|
| SMART Domains |
Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
225 |
N/A |
INTRINSIC |
|
PWWP
|
278 |
341 |
1.6e-12 |
SMART |
|
low complexity region
|
680 |
701 |
N/A |
INTRINSIC |
|
PHD
|
713 |
756 |
4.49e-7 |
SMART |
|
PHD
|
761 |
808 |
5.82e-1 |
SMART |
|
PHD
|
809 |
861 |
3.06e0 |
SMART |
|
PHD
|
874 |
963 |
1e-4 |
SMART |
|
PWWP
|
968 |
1030 |
8.62e-18 |
SMART |
|
AWS
|
1103 |
1154 |
2.61e-17 |
SMART |
|
SET
|
1155 |
1278 |
2.17e-41 |
SMART |
|
PostSET
|
1279 |
1295 |
2.63e-3 |
SMART |
|
low complexity region
|
1309 |
1326 |
N/A |
INTRINSIC |
|
PHD
|
1332 |
1375 |
4.32e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133117
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138879
|
| Predicted Effect |
silent
Transcript: ENSMUST00000210629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209483
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209373
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139836
|
| SMART Domains |
Protein: ENSMUSP00000122437
Gene: ENSMUSG00000031570
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
85 |
214 |
3.98e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142395
|
| SMART Domains |
Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
225 |
N/A |
INTRINSIC |
|
PWWP
|
278 |
341 |
1.6e-12 |
SMART |
|
low complexity region
|
680 |
701 |
N/A |
INTRINSIC |
|
PHD
|
713 |
756 |
4.49e-7 |
SMART |
|
PHD
|
761 |
808 |
5.82e-1 |
SMART |
|
PHD
|
809 |
861 |
3.06e0 |
SMART |
|
PHD
|
874 |
963 |
1e-4 |
SMART |
|
PWWP
|
968 |
1030 |
8.62e-18 |
SMART |
|
AWS
|
1103 |
1154 |
2.61e-17 |
SMART |
|
SET
|
1155 |
1278 |
2.17e-41 |
SMART |
|
PostSET
|
1279 |
1295 |
2.63e-3 |
SMART |
|
low complexity region
|
1309 |
1326 |
N/A |
INTRINSIC |
|
PHD
|
1332 |
1375 |
4.32e-9 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,276,229 (GRCm39) |
Y479* |
probably null |
Het |
| Btnl6 |
T |
C |
17: 34,727,288 (GRCm39) |
N414S |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,921,005 (GRCm39) |
N984D |
probably damaging |
Het |
| Cfc1 |
A |
T |
1: 34,576,203 (GRCm39) |
|
probably benign |
Het |
| Chrm1 |
G |
A |
19: 8,655,675 (GRCm39) |
V127M |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,663,294 (GRCm39) |
L1429P |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,420,174 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,963,531 (GRCm39) |
E348G |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,172,619 (GRCm39) |
T2698I |
probably damaging |
Het |
| Gas2 |
A |
G |
7: 51,547,038 (GRCm39) |
D63G |
possibly damaging |
Het |
| Gm28042 |
A |
G |
2: 119,865,702 (GRCm39) |
D313G |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,007,622 (GRCm39) |
S1407T |
probably damaging |
Het |
| Ibsp |
T |
A |
5: 104,450,149 (GRCm39) |
M19K |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,634,621 (GRCm39) |
D129N |
probably benign |
Het |
| Krtap4-8 |
A |
T |
11: 99,671,196 (GRCm39) |
|
probably benign |
Het |
| Mertk |
A |
G |
2: 128,643,210 (GRCm39) |
T870A |
probably damaging |
Het |
| Mtmr11 |
C |
A |
3: 96,072,308 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
A |
12: 13,322,704 (GRCm39) |
|
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,448,355 (GRCm39) |
D186G |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,641 (GRCm39) |
I93N |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,923,321 (GRCm39) |
K101R |
probably benign |
Het |
| Pds5a |
C |
T |
5: 65,823,462 (GRCm39) |
D110N |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,380,183 (GRCm39) |
D288E |
probably benign |
Het |
| Pitrm1 |
A |
G |
13: 6,618,792 (GRCm39) |
D655G |
probably benign |
Het |
| Plcz1 |
T |
C |
6: 139,938,690 (GRCm39) |
N554S |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,413,680 (GRCm39) |
Q315R |
probably damaging |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,458 (GRCm39) |
V819I |
probably benign |
Het |
| Rap1b |
T |
A |
10: 117,658,709 (GRCm39) |
R41S |
possibly damaging |
Het |
| Rc3h2 |
T |
A |
2: 37,279,727 (GRCm39) |
S501C |
probably benign |
Het |
| Sel1l2 |
G |
T |
2: 140,072,778 (GRCm39) |
A619D |
probably damaging |
Het |
| Ska3 |
T |
C |
14: 58,057,968 (GRCm39) |
D128G |
possibly damaging |
Het |
| Specc1l |
A |
T |
10: 75,103,342 (GRCm39) |
I889L |
probably benign |
Het |
| Ssxb5 |
T |
A |
X: 8,675,087 (GRCm39) |
N130K |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,648,798 (GRCm39) |
Q267R |
possibly damaging |
Het |
| Tlr8 |
T |
A |
X: 166,027,152 (GRCm39) |
H566L |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,043 (GRCm39) |
Q1026L |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trp53bp2 |
C |
A |
1: 182,276,256 (GRCm39) |
P746T |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,335,632 (GRCm39) |
I547F |
probably damaging |
Het |
| Zfp687 |
A |
C |
3: 94,918,373 (GRCm39) |
N466K |
probably damaging |
Het |
|
| Other mutations in Plpp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Plpp5
|
APN |
8 |
26,210,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01588:Plpp5
|
APN |
8 |
26,214,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02807:Plpp5
|
APN |
8 |
26,211,192 (GRCm39) |
splice site |
probably benign |
|
|
R0362:Plpp5
|
UTSW |
8 |
26,214,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1626:Plpp5
|
UTSW |
8 |
26,212,604 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4009:Plpp5
|
UTSW |
8 |
26,210,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4030:Plpp5
|
UTSW |
8 |
26,210,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7178:Plpp5
|
UTSW |
8 |
26,210,606 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7529:Plpp5
|
UTSW |
8 |
26,214,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9075:Plpp5
|
UTSW |
8 |
26,210,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation