Incidental Mutation 'R3195:Lpin1'
| ID |
267609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin1
|
| Ensembl Gene |
ENSMUSG00000020593 |
| Gene Name |
lipin 1 |
| Synonyms |
Lipin1 |
| MMRRC Submission |
040616-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R3195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
16585670-16696967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16615584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 323
(S323P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067124]
[ENSMUST00000111067]
[ENSMUST00000221230]
[ENSMUST00000221297]
[ENSMUST00000222989]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067124
AA Change: S356P
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593
AA Change: S356P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
110 |
1.1e-48 |
PFAM |
|
low complexity region
|
153 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
242 |
N/A |
INTRINSIC |
|
Pfam:Lipin_mid
|
498 |
591 |
9.4e-36 |
PFAM |
|
low complexity region
|
630 |
642 |
N/A |
INTRINSIC |
|
LNS2
|
708 |
864 |
3.42e-100 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111067
AA Change: S356P
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593
AA Change: S356P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
2.2e-53 |
PFAM |
|
low complexity region
|
153 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
|
LNS2
|
675 |
831 |
3.42e-100 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221230
AA Change: S323P
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221297
AA Change: S356P
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221789
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222989
AA Change: S323P
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223129
|
| Meta Mutation Damage Score |
0.0760 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]
PHENOTYPE: ENU-induced mutants show transient hindlimb paralysis, demyelination and myelin sheath defects. Spontaneous mutants show neonatal fatty liver and hypertriglyceridemia, runting, male sterility, peripheral neuropathy, and altered hair growth, myelination, adipogenesis and lipid and glucose metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
| Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
| Calb2 |
C |
T |
8: 110,883,635 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
A |
G |
5: 9,182,454 (GRCm39) |
|
probably benign |
Het |
| Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,921,236 (GRCm39) |
T204A |
probably benign |
Het |
| Gapdh |
T |
C |
6: 125,139,583 (GRCm39) |
N229S |
possibly damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
| Iqub |
G |
C |
6: 24,462,036 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| L1td1 |
A |
G |
4: 98,625,755 (GRCm39) |
E650G |
possibly damaging |
Het |
| Lilra5 |
G |
A |
7: 4,241,756 (GRCm39) |
G185D |
probably damaging |
Het |
| Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,466,801 (GRCm39) |
C283Y |
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,639,991 (GRCm39) |
L122P |
probably damaging |
Het |
| Or10c1 |
A |
G |
17: 37,522,427 (GRCm39) |
F106L |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,484 (GRCm39) |
Y278C |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,257 (GRCm39) |
E137G |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,925,736 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,245,418 (GRCm39) |
I730N |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,245,861 (GRCm39) |
V595M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,661,222 (GRCm39) |
E939G |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,913,879 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
T |
A |
7: 63,849,061 (GRCm39) |
Y102* |
probably null |
Het |
| Usp42 |
A |
G |
5: 143,702,954 (GRCm39) |
S556P |
probably benign |
Het |
| Zfp957 |
A |
G |
14: 79,450,332 (GRCm39) |
V489A |
probably damaging |
Het |
|
| Other mutations in Lpin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Lpin1
|
APN |
12 |
16,603,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00929:Lpin1
|
APN |
12 |
16,623,700 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01485:Lpin1
|
APN |
12 |
16,612,358 (GRCm39) |
splice site |
probably benign |
|
|
IGL01750:Lpin1
|
APN |
12 |
16,627,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01774:Lpin1
|
APN |
12 |
16,608,477 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02197:Lpin1
|
APN |
12 |
16,608,408 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02244:Lpin1
|
APN |
12 |
16,591,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02272:Lpin1
|
APN |
12 |
16,597,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03366:Lpin1
|
APN |
12 |
16,594,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lipin
|
UTSW |
12 |
16,597,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Lpin1
|
UTSW |
12 |
16,618,530 (GRCm39) |
splice site |
probably benign |
|
|
R0106:Lpin1
|
UTSW |
12 |
16,590,980 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0106:Lpin1
|
UTSW |
12 |
16,590,980 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0676:Lpin1
|
UTSW |
12 |
16,590,980 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1119:Lpin1
|
UTSW |
12 |
16,613,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Lpin1
|
UTSW |
12 |
16,610,999 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1611:Lpin1
|
UTSW |
12 |
16,627,219 (GRCm39) |
missense |
probably null |
0.64 |
|
R1646:Lpin1
|
UTSW |
12 |
16,623,659 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1756:Lpin1
|
UTSW |
12 |
16,588,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1870:Lpin1
|
UTSW |
12 |
16,591,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Lpin1
|
UTSW |
12 |
16,596,728 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1971:Lpin1
|
UTSW |
12 |
16,630,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Lpin1
|
UTSW |
12 |
16,597,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2901:Lpin1
|
UTSW |
12 |
16,603,999 (GRCm39) |
missense |
probably benign |
|
|
R3779:Lpin1
|
UTSW |
12 |
16,614,569 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3918:Lpin1
|
UTSW |
12 |
16,621,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4532:Lpin1
|
UTSW |
12 |
16,603,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4857:Lpin1
|
UTSW |
12 |
16,613,631 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4882:Lpin1
|
UTSW |
12 |
16,588,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Lpin1
|
UTSW |
12 |
16,604,007 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5084:Lpin1
|
UTSW |
12 |
16,626,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Lpin1
|
UTSW |
12 |
16,623,716 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5191:Lpin1
|
UTSW |
12 |
16,630,829 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5377:Lpin1
|
UTSW |
12 |
16,613,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Lpin1
|
UTSW |
12 |
16,623,715 (GRCm39) |
missense |
|
|
|
R5659:Lpin1
|
UTSW |
12 |
16,590,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5924:Lpin1
|
UTSW |
12 |
16,594,658 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6391:Lpin1
|
UTSW |
12 |
16,614,554 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6746:Lpin1
|
UTSW |
12 |
16,615,529 (GRCm39) |
missense |
probably benign |
|
|
R6799:Lpin1
|
UTSW |
12 |
16,611,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Lpin1
|
UTSW |
12 |
16,630,862 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7557:Lpin1
|
UTSW |
12 |
16,630,793 (GRCm39) |
missense |
|
|
|
R7884:Lpin1
|
UTSW |
12 |
16,612,370 (GRCm39) |
missense |
|
|
|
R8049:Lpin1
|
UTSW |
12 |
16,613,685 (GRCm39) |
missense |
|
|
|
R8130:Lpin1
|
UTSW |
12 |
16,629,965 (GRCm39) |
missense |
|
|
|
R8190:Lpin1
|
UTSW |
12 |
16,599,003 (GRCm39) |
missense |
|
|
|
R8434:Lpin1
|
UTSW |
12 |
16,613,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8691:Lpin1
|
UTSW |
12 |
16,623,660 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9077:Lpin1
|
UTSW |
12 |
16,591,747 (GRCm39) |
missense |
|
|
|
R9085:Lpin1
|
UTSW |
12 |
16,623,715 (GRCm39) |
missense |
|
|
|
R9209:Lpin1
|
UTSW |
12 |
16,588,548 (GRCm39) |
missense |
|
|
|
R9227:Lpin1
|
UTSW |
12 |
16,588,483 (GRCm39) |
missense |
unknown |
|
|
R9230:Lpin1
|
UTSW |
12 |
16,588,483 (GRCm39) |
missense |
unknown |
|
|
R9799:Lpin1
|
UTSW |
12 |
16,612,400 (GRCm39) |
missense |
|
|
|
Z1177:Lpin1
|
UTSW |
12 |
16,629,948 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTCTTGCTCGACGACTG -3'
(R):5'- GTGCCACGGACTGTTAACTG -3'
Sequencing Primer
(F):5'- TCGACGACTGTGCGGTG -3'
(R):5'- ACGGACTGTTAACTGACCTCCTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation