Incidental Mutation 'IGL03411:Pnliprp2'
ID |
421807 |
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 # |
IGL03411
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
58748155-58765966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58748847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 51
(I51V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026081]
|
AlphaFold |
P17892 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026081
AA Change: I51V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026081 Gene: ENSMUSG00000025091 AA Change: I51V
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,218,310 (GRCm39) |
I305T |
probably damaging |
Het |
Adamts18 |
G |
A |
8: 114,490,929 (GRCm39) |
Q513* |
probably null |
Het |
Adamts6 |
A |
G |
13: 104,450,842 (GRCm39) |
I342V |
possibly damaging |
Het |
Agtr1a |
A |
G |
13: 30,565,582 (GRCm39) |
T216A |
possibly damaging |
Het |
Coro1b |
A |
G |
19: 4,200,225 (GRCm39) |
|
probably benign |
Het |
Cyp4a10 |
G |
A |
4: 115,382,890 (GRCm39) |
|
probably null |
Het |
Cyp4x1 |
T |
A |
4: 114,965,982 (GRCm39) |
Q448L |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,430,916 (GRCm39) |
|
probably null |
Het |
Exoc1 |
C |
A |
5: 76,690,042 (GRCm39) |
A194D |
probably damaging |
Het |
Fastkd1 |
A |
C |
2: 69,537,703 (GRCm39) |
V293G |
probably damaging |
Het |
Gm5773 |
T |
C |
3: 93,681,264 (GRCm39) |
L312P |
probably damaging |
Het |
Hhla1 |
A |
G |
15: 65,802,078 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
A |
T |
2: 31,236,649 (GRCm39) |
E397D |
possibly damaging |
Het |
Lig1 |
C |
T |
7: 13,030,694 (GRCm39) |
R449C |
probably damaging |
Het |
Mdc1 |
A |
G |
17: 36,164,018 (GRCm39) |
T1189A |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,575,436 (GRCm39) |
M1397I |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,980,330 (GRCm39) |
E1484G |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,182,890 (GRCm39) |
I1019V |
probably benign |
Het |
Nid1 |
T |
C |
13: 13,612,474 (GRCm39) |
L63P |
probably damaging |
Het |
Ogfod3 |
A |
T |
11: 121,068,630 (GRCm39) |
*316R |
probably null |
Het |
Or6z7 |
T |
C |
7: 6,483,435 (GRCm39) |
K240R |
probably benign |
Het |
Pdpk1 |
A |
T |
17: 24,320,618 (GRCm39) |
V193E |
probably damaging |
Het |
Phf3 |
G |
T |
1: 30,843,482 (GRCm39) |
P1826T |
probably damaging |
Het |
Prpf4b |
C |
T |
13: 35,079,342 (GRCm39) |
L739F |
probably damaging |
Het |
Rcbtb1 |
T |
A |
14: 59,447,419 (GRCm39) |
M1K |
probably null |
Het |
Rin2 |
A |
G |
2: 145,702,864 (GRCm39) |
E520G |
probably damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Shpk |
A |
G |
11: 73,105,861 (GRCm39) |
T238A |
probably benign |
Het |
Tmem132d |
A |
T |
5: 128,061,347 (GRCm39) |
Y418* |
probably null |
Het |
Tpte |
T |
C |
8: 22,815,553 (GRCm39) |
V212A |
possibly damaging |
Het |
Trim55 |
A |
T |
3: 19,713,354 (GRCm39) |
Y135F |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,598,456 (GRCm39) |
A19486T |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,708,340 (GRCm39) |
N22K |
probably benign |
Het |
Vmn2r63 |
T |
C |
7: 42,577,368 (GRCm39) |
D390G |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,806,634 (GRCm39) |
E527G |
possibly damaging |
Het |
Vps13d |
C |
T |
4: 144,875,894 (GRCm39) |
E1538K |
probably damaging |
Het |
Zfp64 |
T |
C |
2: 168,793,462 (GRCm39) |
|
probably null |
Het |
Zfp827 |
A |
G |
8: 79,803,116 (GRCm39) |
S563G |
probably damaging |
Het |
|
Other mutations in Pnliprp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00786:Pnliprp2
|
APN |
19 |
58,748,929 (GRCm39) |
missense |
probably benign |
|
IGL02739:Pnliprp2
|
APN |
19 |
58,748,941 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02881:Pnliprp2
|
APN |
19 |
58,759,878 (GRCm39) |
missense |
probably benign |
0.01 |
R0140:Pnliprp2
|
UTSW |
19 |
58,754,795 (GRCm39) |
missense |
probably benign |
0.00 |
R0558:Pnliprp2
|
UTSW |
19 |
58,762,519 (GRCm39) |
missense |
probably benign |
0.00 |
R1873:Pnliprp2
|
UTSW |
19 |
58,751,821 (GRCm39) |
missense |
probably benign |
0.00 |
R1874:Pnliprp2
|
UTSW |
19 |
58,751,821 (GRCm39) |
missense |
probably benign |
0.00 |
R1875:Pnliprp2
|
UTSW |
19 |
58,751,821 (GRCm39) |
missense |
probably benign |
0.00 |
R2382:Pnliprp2
|
UTSW |
19 |
58,757,062 (GRCm39) |
missense |
probably benign |
0.00 |
R3893:Pnliprp2
|
UTSW |
19 |
58,754,705 (GRCm39) |
missense |
probably benign |
0.19 |
R3915:Pnliprp2
|
UTSW |
19 |
58,748,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R4620:Pnliprp2
|
UTSW |
19 |
58,750,718 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4893:Pnliprp2
|
UTSW |
19 |
58,759,853 (GRCm39) |
missense |
probably benign |
0.08 |
R4957:Pnliprp2
|
UTSW |
19 |
58,763,577 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4959:Pnliprp2
|
UTSW |
19 |
58,754,750 (GRCm39) |
missense |
probably benign |
0.16 |
R4973:Pnliprp2
|
UTSW |
19 |
58,754,750 (GRCm39) |
missense |
probably benign |
0.16 |
R5346:Pnliprp2
|
UTSW |
19 |
58,748,232 (GRCm39) |
missense |
probably benign |
|
R6049:Pnliprp2
|
UTSW |
19 |
58,748,884 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6228:Pnliprp2
|
UTSW |
19 |
58,751,874 (GRCm39) |
critical splice donor site |
probably null |
|
R6394:Pnliprp2
|
UTSW |
19 |
58,750,030 (GRCm39) |
missense |
probably benign |
|
R6829:Pnliprp2
|
UTSW |
19 |
58,748,305 (GRCm39) |
missense |
probably benign |
|
R7235:Pnliprp2
|
UTSW |
19 |
58,763,659 (GRCm39) |
missense |
probably benign |
0.03 |
R7534:Pnliprp2
|
UTSW |
19 |
58,763,574 (GRCm39) |
missense |
probably benign |
|
R7834:Pnliprp2
|
UTSW |
19 |
58,762,591 (GRCm39) |
missense |
probably benign |
0.25 |
R8015:Pnliprp2
|
UTSW |
19 |
58,754,714 (GRCm39) |
missense |
probably damaging |
0.99 |
R8508:Pnliprp2
|
UTSW |
19 |
58,751,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R9000:Pnliprp2
|
UTSW |
19 |
58,762,555 (GRCm39) |
missense |
probably benign |
0.00 |
R9560:Pnliprp2
|
UTSW |
19 |
58,762,523 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0058:Pnliprp2
|
UTSW |
19 |
58,762,574 (GRCm39) |
missense |
possibly damaging |
0.59 |
Z1088:Pnliprp2
|
UTSW |
19 |
58,750,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |