Incidental Mutation 'R5690:Pnpla1'
| ID |
443652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla1
|
| Ensembl Gene |
ENSMUSG00000043286 |
| Gene Name |
patatin-like phospholipase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
043323-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R5690 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
29077385-29109283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29097346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 171
(I171F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056866]
[ENSMUST00000114737]
|
| AlphaFold |
Q3V1D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056866
AA Change: I171F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: I171F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
16 |
183 |
1.4e-14 |
PFAM |
|
low complexity region
|
443 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
564 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114737
AA Change: I171F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: I171F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patatin
|
16 |
183 |
9.3e-15 |
PFAM |
|
low complexity region
|
443 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
564 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality; shiny, red, dry, wrinkled and non-elastic skin; reduced size and weight at birth; fail to suckle; and exhibit skin defects associated with a lack of omega-O-acylceramides. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
A |
G |
10: 70,759,144 (GRCm39) |
|
probably benign |
Het |
| Acadl |
T |
C |
1: 66,892,445 (GRCm39) |
Y126C |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,792,129 (GRCm39) |
|
probably null |
Het |
| Ap1s1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
5: 137,066,233 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp6v1e1 |
A |
T |
6: 120,785,317 (GRCm39) |
|
probably null |
Het |
| Axin1 |
A |
G |
17: 26,413,911 (GRCm39) |
Y792C |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,607,996 (GRCm39) |
N233S |
probably benign |
Het |
| Ccer2 |
C |
A |
7: 28,455,629 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,218,269 (GRCm39) |
S1481P |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,806,019 (GRCm39) |
T2277S |
probably benign |
Het |
| Ctsl |
T |
A |
13: 64,513,022 (GRCm39) |
N300I |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,382,370 (GRCm39) |
I1247V |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,655,108 (GRCm39) |
Q135L |
probably benign |
Het |
| Efcab14 |
G |
A |
4: 115,617,244 (GRCm39) |
V318M |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,810,647 (GRCm39) |
S910N |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Frmd4b |
T |
C |
6: 97,330,164 (GRCm39) |
E133G |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,453 (GRCm39) |
F2514S |
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,576,272 (GRCm39) |
D261G |
possibly damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,318 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
C |
2: 40,640,906 (GRCm39) |
|
probably null |
Het |
| Mrpl45 |
C |
A |
11: 97,212,412 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,220,101 (GRCm39) |
E150G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,386,285 (GRCm39) |
V737D |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,341,296 (GRCm39) |
Y59H |
probably damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,732 (GRCm39) |
V277E |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,784,769 (GRCm39) |
S343T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Rab5if |
G |
A |
2: 156,707,234 (GRCm39) |
V58I |
probably benign |
Het |
| Rdh8 |
A |
G |
9: 20,736,785 (GRCm39) |
N259S |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,229,735 (GRCm39) |
L927S |
possibly damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,586,878 (GRCm39) |
M496T |
probably benign |
Het |
| Slc8b1 |
G |
A |
5: 120,651,270 (GRCm39) |
W10* |
probably null |
Het |
| Smarcc2 |
G |
A |
10: 128,320,276 (GRCm39) |
G887S |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 84,996,974 (GRCm39) |
S549P |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,085,802 (GRCm39) |
M1181V |
probably benign |
Het |
| Tbx15 |
T |
C |
3: 99,216,166 (GRCm39) |
S76P |
probably damaging |
Het |
| Tbx2 |
A |
T |
11: 85,727,879 (GRCm39) |
I271F |
probably damaging |
Het |
| Thap4 |
A |
G |
1: 93,644,352 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
A |
G |
2: 130,074,306 (GRCm39) |
Y333C |
probably damaging |
Het |
| Trcg1 |
C |
T |
9: 57,149,094 (GRCm39) |
P222L |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,148,045 (GRCm39) |
V326A |
probably benign |
Het |
| Unc80 |
A |
C |
1: 66,679,731 (GRCm39) |
I2101L |
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,780 (GRCm39) |
L111S |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
| Xpo4 |
T |
C |
14: 57,828,446 (GRCm39) |
I805V |
probably benign |
Het |
|
| Other mutations in Pnpla1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Pnpla1
|
APN |
17 |
29,096,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01713:Pnpla1
|
APN |
17 |
29,100,579 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02972:Pnpla1
|
APN |
17 |
29,105,921 (GRCm39) |
missense |
probably null |
0.65 |
|
IGL03350:Pnpla1
|
APN |
17 |
29,095,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Pnpla1
|
UTSW |
17 |
29,105,852 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1727:Pnpla1
|
UTSW |
17 |
29,097,508 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3620:Pnpla1
|
UTSW |
17 |
29,096,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3621:Pnpla1
|
UTSW |
17 |
29,096,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Pnpla1
|
UTSW |
17 |
29,097,518 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5011:Pnpla1
|
UTSW |
17 |
29,104,558 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5042:Pnpla1
|
UTSW |
17 |
29,100,021 (GRCm39) |
missense |
probably benign |
|
|
R5068:Pnpla1
|
UTSW |
17 |
29,098,397 (GRCm39) |
splice site |
probably null |
|
|
R5886:Pnpla1
|
UTSW |
17 |
29,095,837 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6269:Pnpla1
|
UTSW |
17 |
29,100,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6270:Pnpla1
|
UTSW |
17 |
29,100,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6271:Pnpla1
|
UTSW |
17 |
29,100,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6272:Pnpla1
|
UTSW |
17 |
29,100,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6369:Pnpla1
|
UTSW |
17 |
29,097,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6611:Pnpla1
|
UTSW |
17 |
29,100,021 (GRCm39) |
missense |
probably benign |
|
|
R6962:Pnpla1
|
UTSW |
17 |
29,097,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Pnpla1
|
UTSW |
17 |
29,100,159 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7400:Pnpla1
|
UTSW |
17 |
29,077,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:Pnpla1
|
UTSW |
17 |
29,097,455 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7507:Pnpla1
|
UTSW |
17 |
29,095,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Pnpla1
|
UTSW |
17 |
29,077,781 (GRCm39) |
start gained |
probably benign |
|
|
R8134:Pnpla1
|
UTSW |
17 |
29,097,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8271:Pnpla1
|
UTSW |
17 |
29,100,579 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8353:Pnpla1
|
UTSW |
17 |
29,077,873 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8453:Pnpla1
|
UTSW |
17 |
29,077,873 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8880:Pnpla1
|
UTSW |
17 |
29,098,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9471:Pnpla1
|
UTSW |
17 |
29,099,973 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0019:Pnpla1
|
UTSW |
17 |
29,100,041 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAAAGGAGGGACCCCATAC -3'
(R):5'- TCATGCGGGTGATATTCTCC -3'
Sequencing Primer
(F):5'- GCCCAGAGCATTAGACTTGG -3'
(R):5'- CGGGTGATATTCTCCAGGGAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation