Incidental Mutation 'R9560:Pnliprp2'
ID |
720984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnliprp2
|
Ensembl Gene |
ENSMUSG00000025091 |
Gene Name |
pancreatic lipase-related protein 2 |
Synonyms |
PLRP2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R9560 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
58748155-58765966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58762523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 376
(V376A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026081]
|
AlphaFold |
P17892 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026081
AA Change: V376A
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026081 Gene: ENSMUSG00000025091 AA Change: V376A
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,839,082 (GRCm39) |
R502G |
probably damaging |
Het |
A930004D18Rik |
G |
A |
2: 18,032,218 (GRCm39) |
|
probably benign |
Het |
Abhd16b |
T |
A |
2: 181,135,103 (GRCm39) |
C2S |
probably damaging |
Het |
Adam2 |
T |
C |
14: 66,275,102 (GRCm39) |
M544V |
probably benign |
Het |
Agbl3 |
T |
A |
6: 34,823,843 (GRCm39) |
V841E |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,536,825 (GRCm39) |
D127G |
probably damaging |
Het |
Ap1b1 |
G |
A |
11: 4,976,363 (GRCm39) |
E464K |
probably benign |
Het |
Cdh19 |
T |
A |
1: 110,821,004 (GRCm39) |
E578V |
possibly damaging |
Het |
Chat |
G |
A |
14: 32,170,942 (GRCm39) |
Q186* |
probably null |
Het |
Cited4 |
A |
G |
4: 120,524,165 (GRCm39) |
T56A |
probably benign |
Het |
Cpt1a |
T |
C |
19: 3,402,531 (GRCm39) |
L63P |
possibly damaging |
Het |
Havcr2 |
C |
A |
11: 46,347,164 (GRCm39) |
A47E |
probably benign |
Het |
Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
Klf5 |
A |
T |
14: 99,539,034 (GRCm39) |
Q149L |
probably benign |
Het |
Klk10 |
A |
G |
7: 43,433,746 (GRCm39) |
Y186C |
probably damaging |
Het |
Krt79 |
C |
T |
15: 101,846,277 (GRCm39) |
E224K |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,725,682 (GRCm39) |
D10G |
probably damaging |
Het |
Lrrc37a |
C |
T |
11: 103,347,420 (GRCm39) |
V3092I |
unknown |
Het |
Minar1 |
G |
T |
9: 89,484,531 (GRCm39) |
Q289K |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,368,544 (GRCm39) |
T2630A |
probably damaging |
Het |
Ncor1 |
T |
C |
11: 62,263,948 (GRCm39) |
T485A |
possibly damaging |
Het |
Olfr908 |
G |
A |
9: 38,427,385 (GRCm39) |
S19N |
probably benign |
Het |
Or10h1b |
C |
T |
17: 33,395,868 (GRCm39) |
T164M |
probably damaging |
Het |
Or10h5 |
G |
A |
17: 33,434,986 (GRCm39) |
H111Y |
probably damaging |
Het |
Or4c104 |
A |
C |
2: 88,586,290 (GRCm39) |
I243S |
possibly damaging |
Het |
Patj |
G |
A |
4: 98,570,289 (GRCm39) |
E1705K |
probably benign |
Het |
Pcdh17 |
T |
A |
14: 84,770,898 (GRCm39) |
D1125E |
probably benign |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Pramel42 |
A |
T |
5: 94,685,640 (GRCm39) |
R433S |
possibly damaging |
Het |
Scn1a |
A |
T |
2: 66,158,131 (GRCm39) |
L414Q |
probably damaging |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Slc22a23 |
A |
G |
13: 34,381,851 (GRCm39) |
V411A |
possibly damaging |
Het |
Slco1c1 |
T |
C |
6: 141,515,076 (GRCm39) |
V657A |
probably benign |
Het |
Slco3a1 |
A |
T |
7: 74,153,931 (GRCm39) |
Y214N |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,202,110 (GRCm39) |
T633A |
probably damaging |
Het |
Tmem175 |
T |
C |
5: 108,789,693 (GRCm39) |
F96S |
probably damaging |
Het |
Tmf1 |
C |
T |
6: 97,147,293 (GRCm39) |
E558K |
possibly damaging |
Het |
Tsbp1 |
A |
T |
17: 34,663,016 (GRCm39) |
Q103H |
probably damaging |
Het |
Ubac2 |
G |
A |
14: 122,145,636 (GRCm39) |
G98D |
possibly damaging |
Het |
Unc50 |
T |
A |
1: 37,476,248 (GRCm39) |
V136D |
possibly damaging |
Het |
Vmn1r49 |
T |
A |
6: 90,049,382 (GRCm39) |
M207L |
probably benign |
Het |
Zfp853 |
T |
C |
5: 143,275,080 (GRCm39) |
E195G |
unknown |
Het |
Zfyve9 |
A |
T |
4: 108,575,334 (GRCm39) |
N582K |
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 |
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 |
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'- ATCATGGGTGAACTCCATGGAG -3'
(R):5'- CACCATGTGACCCATTGTAAAC -3'
Sequencing Primer
(F):5'- GAGGAACACAACCCCATCCTTG -3'
(R):5'- GTAAACAATGGTCTCTCTCACAGGG -3'
|
Posted On |
2022-08-09 |