Incidental Mutation 'IGL00495:Pnliprp1'
| ID |
13073 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pnliprp1
|
| Ensembl Gene |
ENSMUSG00000042179 |
| Gene Name |
pancreatic lipase related protein 1 |
| Synonyms |
Plrp1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL00495
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
58717319-58732601 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58723162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 221
(H221L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048644]
|
| AlphaFold |
Q5BKQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048644
AA Change: H221L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045465
Gene: ENSMUSG00000042179
AA Change: H221L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
18 |
353 |
9.1e-157 |
PFAM |
|
LH2
|
356 |
467 |
1.98e-17 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,327,143 (GRCm39) |
T679A |
probably benign |
Het |
| Bhlhe40 |
T |
A |
6: 108,638,139 (GRCm39) |
M33K |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,575,607 (GRCm39) |
S1059P |
probably benign |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Chrm2 |
A |
T |
6: 36,500,355 (GRCm39) |
I71F |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,469,272 (GRCm39) |
Q618R |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,887,308 (GRCm39) |
N476K |
probably benign |
Het |
| Dhx36 |
G |
A |
3: 62,377,979 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
G |
T |
6: 88,199,836 (GRCm39) |
R124L |
possibly damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,490,874 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 119,120,806 (GRCm39) |
D717G |
probably benign |
Het |
| Eps15 |
G |
T |
4: 109,166,346 (GRCm39) |
V80L |
probably damaging |
Het |
| Fmn1 |
G |
A |
2: 113,274,812 (GRCm39) |
|
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,798,688 (GRCm39) |
S602P |
probably damaging |
Het |
| Gm28539 |
T |
G |
16: 18,773,530 (GRCm39) |
|
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,290 (GRCm39) |
N520S |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,017,988 (GRCm39) |
N1825S |
probably damaging |
Het |
| Igfbp2 |
A |
G |
1: 72,888,287 (GRCm39) |
H143R |
probably benign |
Het |
| Igsf8 |
T |
G |
1: 172,145,111 (GRCm39) |
V146G |
possibly damaging |
Het |
| Kif13b |
T |
G |
14: 64,951,562 (GRCm39) |
S68A |
probably benign |
Het |
| Lrrc15 |
T |
A |
16: 30,092,848 (GRCm39) |
I164F |
possibly damaging |
Het |
| Mrrf |
G |
A |
2: 36,031,643 (GRCm39) |
R53H |
possibly damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,579,249 (GRCm39) |
T76I |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,818,493 (GRCm39) |
R1332G |
probably benign |
Het |
| Plekha1 |
A |
G |
7: 130,479,569 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,171,630 (GRCm39) |
D380G |
probably damaging |
Het |
| Ppm1f |
C |
A |
16: 16,728,835 (GRCm39) |
T79N |
possibly damaging |
Het |
| Ppp4r3b |
A |
C |
11: 29,161,782 (GRCm39) |
T719P |
possibly damaging |
Het |
| Socs4 |
G |
A |
14: 47,527,709 (GRCm39) |
V215I |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,924,937 (GRCm39) |
|
probably null |
Het |
| Stk31 |
T |
A |
6: 49,414,377 (GRCm39) |
C459S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,539,546 (GRCm39) |
V26153A |
possibly damaging |
Het |
| Twf1 |
C |
T |
15: 94,478,817 (GRCm39) |
|
probably benign |
Het |
| Vrk3 |
A |
T |
7: 44,419,071 (GRCm39) |
K383M |
probably damaging |
Het |
| Wdr83 |
A |
T |
8: 85,806,443 (GRCm39) |
N118K |
probably damaging |
Het |
|
| Other mutations in Pnliprp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02367:Pnliprp1
|
APN |
19 |
58,726,601 (GRCm39) |
missense |
probably benign |
|
|
R0463:Pnliprp1
|
UTSW |
19 |
58,726,628 (GRCm39) |
nonsense |
probably null |
|
|
R0573:Pnliprp1
|
UTSW |
19 |
58,723,314 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0591:Pnliprp1
|
UTSW |
19 |
58,723,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Pnliprp1
|
UTSW |
19 |
58,726,628 (GRCm39) |
nonsense |
probably null |
|
|
R1169:Pnliprp1
|
UTSW |
19 |
58,723,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Pnliprp1
|
UTSW |
19 |
58,728,901 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1723:Pnliprp1
|
UTSW |
19 |
58,720,574 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1879:Pnliprp1
|
UTSW |
19 |
58,732,516 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1955:Pnliprp1
|
UTSW |
19 |
58,723,404 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2090:Pnliprp1
|
UTSW |
19 |
58,728,901 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2092:Pnliprp1
|
UTSW |
19 |
58,729,616 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2342:Pnliprp1
|
UTSW |
19 |
58,729,691 (GRCm39) |
splice site |
probably benign |
|
|
R2421:Pnliprp1
|
UTSW |
19 |
58,732,517 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4716:Pnliprp1
|
UTSW |
19 |
58,728,901 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5463:Pnliprp1
|
UTSW |
19 |
58,723,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5478:Pnliprp1
|
UTSW |
19 |
58,723,423 (GRCm39) |
splice site |
probably null |
|
|
R6155:Pnliprp1
|
UTSW |
19 |
58,718,565 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6284:Pnliprp1
|
UTSW |
19 |
58,723,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7107:Pnliprp1
|
UTSW |
19 |
58,717,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Pnliprp1
|
UTSW |
19 |
58,729,532 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7470:Pnliprp1
|
UTSW |
19 |
58,720,457 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7574:Pnliprp1
|
UTSW |
19 |
58,726,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7601:Pnliprp1
|
UTSW |
19 |
58,720,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8782:Pnliprp1
|
UTSW |
19 |
58,719,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Pnliprp1
|
UTSW |
19 |
58,723,406 (GRCm39) |
missense |
probably benign |
|
|
R9445:Pnliprp1
|
UTSW |
19 |
58,720,628 (GRCm39) |
intron |
probably benign |
|
|
R9466:Pnliprp1
|
UTSW |
19 |
58,723,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation