Incidental Mutation 'R2382:Pnliprp2'
| ID |
247588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnliprp2
|
| Ensembl Gene |
ENSMUSG00000025091 |
| Gene Name |
pancreatic lipase-related protein 2 |
| Synonyms |
PLRP2 |
| MMRRC Submission |
040357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R2382 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
58748155-58765966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58757062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 308
(N308S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026081]
|
| AlphaFold |
P17892 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026081
AA Change: N308S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000026081
Gene: ENSMUSG00000025091
AA Change: N308S
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aarsd1 |
T |
A |
11: 101,304,904 (GRCm39) |
I64F |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,260,973 (GRCm39) |
D574V |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,712,564 (GRCm39) |
C16R |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,841,886 (GRCm39) |
L1515Q |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,905,342 (GRCm39) |
V368E |
probably benign |
Het |
| Clk1 |
A |
T |
1: 58,460,448 (GRCm39) |
S61T |
probably benign |
Het |
| Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
| Dner |
C |
G |
1: 84,348,544 (GRCm39) |
E719Q |
probably damaging |
Het |
| E030025P04Rik |
G |
A |
11: 109,034,880 (GRCm39) |
Q3* |
probably null |
Het |
| Eif4g2 |
T |
A |
7: 110,674,253 (GRCm39) |
T613S |
probably benign |
Het |
| Fn1 |
C |
G |
1: 71,687,278 (GRCm39) |
G193A |
probably damaging |
Het |
| Ftdc1 |
T |
C |
16: 58,436,239 (GRCm39) |
|
probably null |
Het |
| Gls2 |
A |
G |
10: 128,039,711 (GRCm39) |
E286G |
probably damaging |
Het |
| Gm21286 |
A |
G |
4: 60,794,283 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa13 |
A |
T |
6: 52,236,125 (GRCm39) |
V304D |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,920,061 (GRCm39) |
M346K |
probably benign |
Het |
| Igkv1-99 |
A |
T |
6: 68,519,481 (GRCm39) |
|
probably benign |
Het |
| Kcnq2 |
A |
G |
2: 180,753,900 (GRCm39) |
Y237H |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,732,207 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,898,411 (GRCm39) |
D180G |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,268,625 (GRCm39) |
T4682M |
probably damaging |
Het |
| Mfsd6 |
T |
A |
1: 52,747,569 (GRCm39) |
H432L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,810,322 (GRCm39) |
D7E |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 88,292,159 (GRCm39) |
V305I |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,363,793 (GRCm39) |
H880Q |
probably benign |
Het |
| Or2g25 |
A |
C |
17: 37,970,822 (GRCm39) |
V134G |
probably benign |
Het |
| Or7a37 |
G |
A |
10: 78,805,990 (GRCm39) |
C169Y |
probably damaging |
Het |
| Or7a41 |
A |
T |
10: 78,870,968 (GRCm39) |
I113F |
possibly damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,343,621 (GRCm39) |
T595A |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,277 (GRCm39) |
T738A |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,209,841 (GRCm39) |
K1062* |
probably null |
Het |
| Reep3 |
A |
T |
10: 66,932,569 (GRCm39) |
V11E |
possibly damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,936,206 (GRCm39) |
S293F |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,996,524 (GRCm39) |
D294G |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,019,811 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
A |
G |
4: 34,806,426 (GRCm39) |
V2206A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCAGTCTTCAGCAGCTC -3'
(R):5'- TTGAAAACTTCTGCATGTCCCC -3'
Sequencing Primer
(F):5'- AGTCTTCAGCAGCTCCCTGG -3'
(R):5'- GAAAACTTCTGCATGTCCCCTCTAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation