Incidental Mutation 'R3915:Pnliprp2'
ID |
309623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnliprp2
|
Ensembl Gene |
ENSMUSG00000025091 |
Gene Name |
pancreatic lipase-related protein 2 |
Synonyms |
PLRP2 |
MMRRC Submission |
040913-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R3915 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
58748155-58765966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 58748794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 33
(V33G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026081]
|
AlphaFold |
P17892 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026081
AA Change: V33G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026081 Gene: ENSMUSG00000025091 AA Change: V33G
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 |
|
Meta Mutation Damage Score |
0.5681 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
98% (43/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACCTGGAAGTGTGTATGTGTTAG -3'
(R):5'- ATTATGCCCTAGCCAGCCAC -3'
Sequencing Primer
(F):5'- TGTATGTGTTAGATGTGTCCAGC -3'
(R):5'- CACTTAGTGGCCCCAGTATGTG -3'
|
Posted On |
2015-04-17 |