Incidental Mutation 'R5346:Pnliprp2'
ID |
422643 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnliprp2
|
Ensembl Gene |
ENSMUSG00000025091 |
Gene Name |
pancreatic lipase-related protein 2 |
Synonyms |
PLRP2 |
MMRRC Submission |
042925-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R5346 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
58748155-58765966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58748232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 4
(D4E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026081]
|
AlphaFold |
P17892 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026081
AA Change: D4E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026081 Gene: ENSMUSG00000025091 AA Change: D4E
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
T |
A |
5: 62,872,089 (GRCm39) |
Y513F |
probably benign |
Het |
Cluh |
C |
A |
11: 74,556,044 (GRCm39) |
H832N |
probably damaging |
Het |
Cntfr |
G |
T |
4: 41,675,042 (GRCm39) |
Y21* |
probably null |
Het |
Cog2 |
T |
C |
8: 125,273,370 (GRCm39) |
S570P |
possibly damaging |
Het |
Cops7b |
A |
G |
1: 86,510,790 (GRCm39) |
|
probably benign |
Het |
Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
Dop1a |
A |
G |
9: 86,402,835 (GRCm39) |
D1345G |
probably damaging |
Het |
Dqx1 |
G |
A |
6: 83,036,700 (GRCm39) |
D235N |
possibly damaging |
Het |
Dscaml1 |
A |
G |
9: 45,361,857 (GRCm39) |
I206V |
possibly damaging |
Het |
Ednra |
T |
C |
8: 78,401,597 (GRCm39) |
Y231C |
probably damaging |
Het |
Ehhadh |
T |
C |
16: 21,581,540 (GRCm39) |
Y484C |
probably damaging |
Het |
Fmnl3 |
A |
T |
15: 99,229,871 (GRCm39) |
V150D |
probably damaging |
Het |
Gabrb2 |
T |
A |
11: 42,312,216 (GRCm39) |
S14T |
probably benign |
Het |
Gm10608 |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,792 (GRCm39) |
|
probably null |
Het |
Gpatch2 |
T |
C |
1: 186,958,065 (GRCm39) |
L140P |
probably benign |
Het |
Gsdmc |
A |
G |
15: 63,648,735 (GRCm39) |
Y400H |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,135,415 (GRCm39) |
S239P |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,498,995 (GRCm39) |
I4004N |
probably damaging |
Het |
Insc |
T |
A |
7: 114,403,776 (GRCm39) |
N63K |
possibly damaging |
Het |
Mmp28 |
T |
C |
11: 83,333,489 (GRCm39) |
H484R |
probably benign |
Het |
Nptn |
C |
A |
9: 58,531,070 (GRCm39) |
Y64* |
probably null |
Het |
Nsd2 |
T |
A |
5: 34,036,480 (GRCm39) |
S655T |
possibly damaging |
Het |
Nub1 |
A |
G |
5: 24,902,414 (GRCm39) |
E253G |
probably damaging |
Het |
Or3a1d |
T |
C |
11: 74,237,496 (GRCm39) |
R305G |
probably benign |
Het |
Pde3b |
T |
A |
7: 114,105,425 (GRCm39) |
H452Q |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,462,321 (GRCm39) |
M2078V |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,593,658 (GRCm39) |
D1485G |
probably damaging |
Het |
Pkhd1l1 |
A |
C |
15: 44,404,363 (GRCm39) |
T2331P |
probably damaging |
Het |
Plk5 |
G |
A |
10: 80,198,942 (GRCm39) |
G433E |
probably damaging |
Het |
Prag1 |
A |
G |
8: 36,570,839 (GRCm39) |
D474G |
probably damaging |
Het |
Psmc1 |
A |
G |
12: 100,086,359 (GRCm39) |
N332S |
probably damaging |
Het |
Rad9a |
G |
C |
19: 4,251,517 (GRCm39) |
|
probably null |
Het |
Slf1 |
A |
G |
13: 77,240,490 (GRCm39) |
V396A |
probably benign |
Het |
Stat6 |
G |
A |
10: 127,488,182 (GRCm39) |
R312K |
probably benign |
Het |
Tgm1 |
A |
T |
14: 55,948,629 (GRCm39) |
V174E |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,926,892 (GRCm39) |
V878A |
probably benign |
Het |
Ube4b |
A |
T |
4: 149,421,881 (GRCm39) |
H969Q |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,155,802 (GRCm39) |
I2209T |
probably damaging |
Het |
Ulk2 |
A |
C |
11: 61,725,740 (GRCm39) |
L112R |
probably damaging |
Het |
Wdr35 |
T |
C |
12: 9,028,684 (GRCm39) |
Y101H |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,921,117 (GRCm39) |
L617P |
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 |
IGL03411:Pnliprp2
|
APN |
19 |
58,748,847 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAAACTCTGGGAGGCCTCAG -3'
(R):5'- GCAAGTCACACAGTTCTTCAC -3'
Sequencing Primer
(F):5'- AGGCCTCAGCATCCGGTC -3'
(R):5'- GTCACACAGTTCTTCACGTTAAG -3'
|
Posted On |
2016-08-04 |