Incidental Mutation 'IGL02139:Plpp1'
| ID |
281457 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plpp1
|
| Ensembl Gene |
ENSMUSG00000021759 |
| Gene Name |
phospholipid phosphatase 1 |
| Synonyms |
Hpic53, LPP-1, mPAP, Ppap2a, LPP1, Lipid phosphate phosphatase 1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
112937326-113004428 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112993433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 122
(T122A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016144]
[ENSMUST00000070951]
|
| AlphaFold |
Q61469 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016144
AA Change: T123A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000016144
Gene: ENSMUSG00000021759
AA Change: T123A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:acidPPc
|
5 |
61 |
1e-14 |
BLAST |
|
acidPPc
|
103 |
244 |
4.28e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070951
AA Change: T122A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000064423
Gene: ENSMUSG00000021759
AA Change: T122A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:acidPPc
|
5 |
72 |
5e-38 |
BLAST |
|
acidPPc
|
102 |
243 |
4.28e-45 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele are viable and fertile with elevated plasma levels of lysophosphatidic acid. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
G |
A |
4: 124,504,369 (GRCm39) |
T61M |
unknown |
Het |
| Adam34l |
T |
A |
8: 44,078,615 (GRCm39) |
R536S |
probably benign |
Het |
| Ambn |
T |
C |
5: 88,613,149 (GRCm39) |
F217L |
probably benign |
Het |
| Cast |
T |
C |
13: 74,876,484 (GRCm39) |
D121G |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,747,358 (GRCm39) |
I730V |
probably benign |
Het |
| Cryzl1 |
T |
C |
16: 91,509,139 (GRCm39) |
K54R |
possibly damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,392,290 (GRCm39) |
S222P |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,020,243 (GRCm39) |
D906G |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,602,081 (GRCm39) |
T428A |
probably benign |
Het |
| Fbxw16 |
T |
G |
9: 109,265,754 (GRCm39) |
D355A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,047,291 (GRCm39) |
|
probably null |
Het |
| Ftsj3 |
G |
A |
11: 106,145,489 (GRCm39) |
P82S |
possibly damaging |
Het |
| Grwd1 |
A |
T |
7: 45,476,667 (GRCm39) |
H307Q |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,134,307 (GRCm39) |
F289S |
probably damaging |
Het |
| Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,656,646 (GRCm39) |
F100S |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,882,871 (GRCm39) |
F572S |
probably benign |
Het |
| Mrps17 |
T |
A |
5: 129,793,860 (GRCm39) |
I18N |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,687,275 (GRCm39) |
V127I |
probably benign |
Het |
| Or2l13b |
T |
C |
16: 19,349,640 (GRCm39) |
D10G |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,773 (GRCm39) |
V217A |
possibly damaging |
Het |
| Or5g23 |
T |
A |
2: 85,438,574 (GRCm39) |
K227* |
probably null |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,299 (GRCm39) |
D476G |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,545,768 (GRCm39) |
Y56* |
probably null |
Het |
| Pld1 |
C |
A |
3: 28,174,961 (GRCm39) |
D86E |
probably damaging |
Het |
| Prkag3 |
A |
G |
1: 74,779,883 (GRCm39) |
I484T |
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,896,066 (GRCm39) |
I104F |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,984,876 (GRCm39) |
S1540P |
probably damaging |
Het |
| Pyroxd1 |
T |
G |
6: 142,300,457 (GRCm39) |
S196A |
probably benign |
Het |
| Rbm42 |
G |
A |
7: 30,345,130 (GRCm39) |
P185S |
unknown |
Het |
| Ror2 |
T |
A |
13: 53,265,200 (GRCm39) |
I619F |
probably damaging |
Het |
| Slitrk4 |
T |
G |
X: 63,314,555 (GRCm39) |
E704A |
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,772,430 (GRCm39) |
V626A |
probably benign |
Het |
| Trmt44 |
T |
A |
5: 35,726,143 (GRCm39) |
K345* |
probably null |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,527 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,970,897 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
G |
T |
4: 63,051,773 (GRCm39) |
K758N |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,261,534 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Plpp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Plpp1
|
APN |
13 |
112,988,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02269:Plpp1
|
APN |
13 |
112,993,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4260001:Plpp1
|
UTSW |
13 |
112,993,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Plpp1
|
UTSW |
13 |
112,971,519 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1301:Plpp1
|
UTSW |
13 |
112,971,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Plpp1
|
UTSW |
13 |
112,996,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Plpp1
|
UTSW |
13 |
112,988,046 (GRCm39) |
nonsense |
probably null |
|
|
R5306:Plpp1
|
UTSW |
13 |
112,988,089 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6108:Plpp1
|
UTSW |
13 |
113,003,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6111:Plpp1
|
UTSW |
13 |
113,003,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Plpp1
|
UTSW |
13 |
113,003,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7520:Plpp1
|
UTSW |
13 |
112,937,781 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7716:Plpp1
|
UTSW |
13 |
112,996,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Plpp1
|
UTSW |
13 |
112,993,323 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8080:Plpp1
|
UTSW |
13 |
113,004,002 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8209:Plpp1
|
UTSW |
13 |
113,003,465 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8226:Plpp1
|
UTSW |
13 |
113,003,465 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8514:Plpp1
|
UTSW |
13 |
112,971,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Plpp1
|
UTSW |
13 |
112,943,057 (GRCm39) |
intron |
probably benign |
|
|
R8948:Plpp1
|
UTSW |
13 |
112,993,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9130:Plpp1
|
UTSW |
13 |
112,988,038 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation