Incidental Mutation 'IGL02881:Pnliprp2'
| ID |
362813 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pnliprp2
|
| Ensembl Gene |
ENSMUSG00000025091 |
| Gene Name |
pancreatic lipase-related protein 2 |
| Synonyms |
PLRP2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL02881
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
58759723-58777533 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58771446 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 363
(D363G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026081]
|
| AlphaFold |
P17892 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026081
AA Change: D363G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000026081
Gene: ENSMUSG00000025091
AA Change: D363G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:Lipase
|
31 |
367 |
4.1e-166 |
PFAM |
|
LH2
|
370 |
482 |
7.49e-27 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display deficient lipid absorbtion before weaning which results in growth retardation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
C |
A |
8: 13,555,999 (GRCm38) |
|
probably benign |
Het |
| Aatf |
A |
G |
11: 84,471,289 (GRCm38) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 136,239,237 (GRCm38) |
H542L |
probably benign |
Het |
| Cyp4v3 |
A |
T |
8: 45,308,716 (GRCm38) |
L389H |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 118,042,118 (GRCm38) |
E3605K |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,359,051 (GRCm38) |
T347M |
probably damaging |
Het |
| Glul |
C |
A |
1: 153,907,116 (GRCm38) |
T191K |
probably benign |
Het |
| Grsf1 |
A |
T |
5: 88,673,830 (GRCm38) |
L125Q |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 106,874,252 (GRCm38) |
I976T |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,919,905 (GRCm38) |
T462A |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,502,926 (GRCm38) |
R60S |
possibly damaging |
Het |
| Mrpl10 |
T |
A |
11: 97,047,073 (GRCm38) |
V89D |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,857,712 (GRCm38) |
T1465I |
unknown |
Het |
| Myh15 |
A |
C |
16: 49,117,265 (GRCm38) |
D743A |
possibly damaging |
Het |
| Noxo1 |
C |
A |
17: 24,699,435 (GRCm38) |
L190I |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,699,436 (GRCm38) |
L190Q |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,730,106 (GRCm38) |
|
probably null |
Het |
| Olfr1025-ps1 |
A |
G |
2: 85,918,116 (GRCm38) |
S64G |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,606,300 (GRCm38) |
Y123N |
probably damaging |
Het |
| Or4c121 |
T |
A |
2: 89,193,641 (GRCm38) |
Y131F |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,922,713 (GRCm38) |
V273A |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 109,007,296 (GRCm38) |
T131A |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,594,980 (GRCm38) |
|
probably null |
Het |
| Prpf6 |
C |
T |
2: 181,632,071 (GRCm38) |
T336I |
probably benign |
Het |
| Rcc1 |
C |
T |
4: 132,337,756 (GRCm38) |
R139H |
probably benign |
Het |
| Sae1 |
T |
G |
7: 16,359,118 (GRCm38) |
K221N |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,638,530 (GRCm38) |
K299R |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,972,243 (GRCm38) |
R636G |
probably benign |
Het |
| Smad2 |
C |
A |
18: 76,299,780 (GRCm38) |
|
probably null |
Het |
| Tmem117 |
T |
C |
15: 94,879,425 (GRCm38) |
F152S |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,450,370 (GRCm38) |
C276Y |
probably damaging |
Het |
| Tor1b |
A |
T |
2: 30,953,853 (GRCm38) |
K47* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,909,803 (GRCm38) |
V3464A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,412,884 (GRCm38) |
T870A |
possibly damaging |
Het |
| Zscan25 |
T |
G |
5: 145,290,486 (GRCm38) |
L320R |
probably benign |
Het |
|
| Other mutations in Pnliprp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00786:Pnliprp2
|
APN |
19 |
58,760,497 (GRCm38) |
missense |
probably benign |
|
|
IGL02739:Pnliprp2
|
APN |
19 |
58,760,509 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03411:Pnliprp2
|
APN |
19 |
58,760,415 (GRCm38) |
missense |
probably benign |
|
|
R0140:Pnliprp2
|
UTSW |
19 |
58,766,363 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0558:Pnliprp2
|
UTSW |
19 |
58,774,087 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1873:Pnliprp2
|
UTSW |
19 |
58,763,389 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1874:Pnliprp2
|
UTSW |
19 |
58,763,389 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1875:Pnliprp2
|
UTSW |
19 |
58,763,389 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2382:Pnliprp2
|
UTSW |
19 |
58,768,630 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3893:Pnliprp2
|
UTSW |
19 |
58,766,273 (GRCm38) |
missense |
probably benign |
0.19 |
|
R3915:Pnliprp2
|
UTSW |
19 |
58,760,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4620:Pnliprp2
|
UTSW |
19 |
58,762,286 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R4893:Pnliprp2
|
UTSW |
19 |
58,771,421 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4957:Pnliprp2
|
UTSW |
19 |
58,775,145 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4959:Pnliprp2
|
UTSW |
19 |
58,766,318 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4973:Pnliprp2
|
UTSW |
19 |
58,766,318 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5346:Pnliprp2
|
UTSW |
19 |
58,759,800 (GRCm38) |
missense |
probably benign |
|
|
R6049:Pnliprp2
|
UTSW |
19 |
58,760,452 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6228:Pnliprp2
|
UTSW |
19 |
58,763,442 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6394:Pnliprp2
|
UTSW |
19 |
58,761,598 (GRCm38) |
missense |
probably benign |
|
|
R6829:Pnliprp2
|
UTSW |
19 |
58,759,873 (GRCm38) |
missense |
probably benign |
|
|
R7235:Pnliprp2
|
UTSW |
19 |
58,775,227 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7534:Pnliprp2
|
UTSW |
19 |
58,775,142 (GRCm38) |
missense |
probably benign |
|
|
R7834:Pnliprp2
|
UTSW |
19 |
58,774,159 (GRCm38) |
missense |
probably benign |
0.25 |
|
R8015:Pnliprp2
|
UTSW |
19 |
58,766,282 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8508:Pnliprp2
|
UTSW |
19 |
58,763,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9000:Pnliprp2
|
UTSW |
19 |
58,774,123 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9560:Pnliprp2
|
UTSW |
19 |
58,774,091 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
X0058:Pnliprp2
|
UTSW |
19 |
58,774,142 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
Z1088:Pnliprp2
|
UTSW |
19 |
58,762,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation