Incidental Mutation 'IGL02739:Pnliprp2'
| ID |
305826 |
| 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: 0.106)
|
| Stock # |
IGL02739
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
58759723-58777533 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 58760509 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026081]
|
| AlphaFold |
P17892 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026081
|
| SMART Domains |
Protein: ENSMUSP00000026081
Gene: ENSMUSG00000025091
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 76,878,517 (GRCm38) |
C887S |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,570,156 (GRCm38) |
E352* |
probably null |
Het |
| Bglap2 |
A |
T |
3: 88,378,012 (GRCm38) |
|
probably null |
Het |
| Bsn |
A |
T |
9: 108,112,546 (GRCm38) |
H2002Q |
probably benign |
Het |
| Chtop |
T |
A |
3: 90,502,250 (GRCm38) |
Q165L |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,286,780 (GRCm38) |
|
probably null |
Het |
| Ctsr |
T |
C |
13: 61,161,844 (GRCm38) |
T184A |
probably benign |
Het |
| Defb36 |
T |
C |
2: 152,604,519 (GRCm38) |
L11P |
unknown |
Het |
| Dock8 |
A |
G |
19: 25,188,488 (GRCm38) |
E1912G |
probably damaging |
Het |
| Dpp3 |
A |
G |
19: 4,923,728 (GRCm38) |
Y106H |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 86,805,282 (GRCm38) |
T103A |
probably damaging |
Het |
| Epcam |
A |
T |
17: 87,640,494 (GRCm38) |
T131S |
probably benign |
Het |
| Fam169a |
A |
G |
13: 97,094,055 (GRCm38) |
|
probably benign |
Het |
| Gh |
T |
A |
11: 106,301,733 (GRCm38) |
|
probably benign |
Het |
| Kif20a |
A |
T |
18: 34,628,943 (GRCm38) |
K399* |
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,498,215 (GRCm38) |
I466T |
probably damaging |
Het |
| Nlk |
A |
G |
11: 78,574,851 (GRCm38) |
V409A |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 46,044,307 (GRCm38) |
|
probably null |
Het |
| Nr2c1 |
T |
A |
10: 94,156,972 (GRCm38) |
M16K |
probably damaging |
Het |
| Nxph2 |
A |
T |
2: 23,399,900 (GRCm38) |
Q88L |
probably benign |
Het |
| Olfr33 |
A |
G |
7: 102,714,314 (GRCm38) |
I33T |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,819,694 (GRCm38) |
R680S |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,540,950 (GRCm38) |
N2325I |
probably benign |
Het |
| Ppp1r42 |
T |
A |
1: 9,968,853 (GRCm38) |
K347N |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,851,585 (GRCm38) |
V407A |
possibly damaging |
Het |
| Psmb8 |
C |
A |
17: 34,200,754 (GRCm38) |
S194* |
probably null |
Het |
| Rnf214 |
T |
C |
9: 45,869,474 (GRCm38) |
I406V |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 37,893,821 (GRCm38) |
S3L |
probably damaging |
Het |
| Sdad1 |
C |
T |
5: 92,290,072 (GRCm38) |
A539T |
probably benign |
Het |
| Sema3a |
A |
G |
5: 13,451,161 (GRCm38) |
Y57C |
probably damaging |
Het |
| Susd5 |
A |
G |
9: 114,096,033 (GRCm38) |
E328G |
possibly damaging |
Het |
| Syngr3 |
T |
C |
17: 24,686,398 (GRCm38) |
T175A |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,856,080 (GRCm38) |
Q390L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 33,581,693 (GRCm38) |
T2423A |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 64,927,126 (GRCm38) |
N36S |
probably benign |
Het |
| Uchl4 |
C |
T |
9: 64,235,537 (GRCm38) |
T100M |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,305,129 (GRCm38) |
K11R |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,879,900 (GRCm38) |
D3040E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 30,242,460 (GRCm38) |
Y640* |
probably null |
Het |
| Zkscan17 |
T |
G |
11: 59,503,526 (GRCm38) |
E83A |
probably damaging |
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 |
|
|
IGL02881:Pnliprp2
|
APN |
19 |
58,771,446 (GRCm38) |
missense |
probably benign |
0.01 |
|
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 |
2015-04-16 |
Incidental Mutation