Incidental Mutation 'IGL00333:Lpin2'
| ID |
5749 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
IGL00333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 71550967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 709
(T709K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126681]
[ENSMUST00000129635]
|
| AlphaFold |
Q99PI5 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000053173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125665
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126681
AA Change: T747K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: T747K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
39 |
148 |
1e-47 |
PFAM |
|
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
420 |
N/A |
INTRINSIC |
|
Pfam:Lipin_mid
|
504 |
596 |
6.1e-37 |
PFAM |
|
LNS2
|
720 |
876 |
2.18e-107 |
SMART |
|
low complexity region
|
924 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129635
AA Change: T709K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: T709K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
2.2e-53 |
PFAM |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
382 |
N/A |
INTRINSIC |
|
LNS2
|
682 |
838 |
2.18e-107 |
SMART |
|
low complexity region
|
886 |
892 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140150
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154507
|
| SMART Domains |
Protein: ENSMUSP00000127035
Gene: ENSMUSG00000024052
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_mid
|
1 |
55 |
2.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156565
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop ataxia, impaired blance, and tremors with age and show altered cerebellar phospholipid composition and anemia. Mice show diet-induced hepatic triglyceride accumulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosa |
T |
C |
9: 74,933,072 (GRCm39) |
I1006T |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
| Bag6 |
T |
G |
17: 35,363,627 (GRCm39) |
D770E |
probably damaging |
Het |
| Ccdc8 |
T |
A |
7: 16,729,967 (GRCm39) |
D485E |
unknown |
Het |
| Cyp2c54 |
A |
C |
19: 40,060,522 (GRCm39) |
V153G |
probably damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hgf |
A |
T |
5: 16,816,880 (GRCm39) |
T499S |
possibly damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,549,537 (GRCm39) |
*107R |
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Klk1b27 |
T |
A |
7: 43,705,567 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
T |
C |
10: 125,849,017 (GRCm39) |
L945P |
probably benign |
Het |
| Lrrn4 |
C |
T |
2: 132,712,737 (GRCm39) |
C362Y |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,320 (GRCm39) |
S184P |
probably damaging |
Het |
| Nr2f1 |
A |
T |
13: 78,337,952 (GRCm39) |
V231E |
probably damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,474 (GRCm39) |
Y216* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,452,522 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
C |
12: 9,629,432 (GRCm39) |
I102L |
probably benign |
Het |
| Pcbd1 |
A |
T |
10: 60,927,949 (GRCm39) |
Q37L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,571,691 (GRCm39) |
Q359* |
probably null |
Het |
| Rpgrip1 |
A |
T |
14: 52,387,895 (GRCm39) |
|
probably null |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,291,491 (GRCm39) |
M105T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,447,387 (GRCm39) |
T2184A |
probably benign |
Het |
| Synpo2 |
C |
T |
3: 122,906,859 (GRCm39) |
G819D |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,654 (GRCm39) |
V180A |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,433,210 (GRCm39) |
D324G |
probably damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,606,970 (GRCm39) |
L328* |
probably null |
Het |
| Tmem253 |
T |
C |
14: 52,255,418 (GRCm39) |
L76P |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,551,623 (GRCm39) |
V46I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,779,425 (GRCm39) |
F1152I |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,257,101 (GRCm39) |
V139A |
probably damaging |
Het |
| Ublcp1 |
T |
C |
11: 44,351,597 (GRCm39) |
D212G |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,547,574 (GRCm39) |
L1622Q |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,364 (GRCm39) |
T162A |
probably damaging |
Het |
|
| Other mutations in Lpin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Lpin2
|
APN |
17 |
71,522,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01727:Lpin2
|
APN |
17 |
71,553,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01969:Lpin2
|
APN |
17 |
71,538,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02143:Lpin2
|
APN |
17 |
71,550,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02600:Lpin2
|
APN |
17 |
71,545,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02931:Lpin2
|
APN |
17 |
71,545,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
aspen
|
UTSW |
17 |
71,550,965 (GRCm39) |
nonsense |
probably null |
|
|
R1570_Lpin2_218
|
UTSW |
17 |
71,552,176 (GRCm39) |
nonsense |
probably null |
|
|
R0144:Lpin2
|
UTSW |
17 |
71,532,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Lpin2
|
UTSW |
17 |
71,553,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0367:Lpin2
|
UTSW |
17 |
71,522,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Lpin2
|
UTSW |
17 |
71,536,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1564:Lpin2
|
UTSW |
17 |
71,532,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1570:Lpin2
|
UTSW |
17 |
71,552,176 (GRCm39) |
nonsense |
probably null |
|
|
R1846:Lpin2
|
UTSW |
17 |
71,532,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3607:Lpin2
|
UTSW |
17 |
71,536,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4006:Lpin2
|
UTSW |
17 |
71,553,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4526:Lpin2
|
UTSW |
17 |
71,544,373 (GRCm39) |
splice site |
probably null |
|
|
R4705:Lpin2
|
UTSW |
17 |
71,539,138 (GRCm39) |
unclassified |
probably benign |
|
|
R4949:Lpin2
|
UTSW |
17 |
71,538,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Lpin2
|
UTSW |
17 |
71,538,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5099:Lpin2
|
UTSW |
17 |
71,550,965 (GRCm39) |
nonsense |
probably null |
|
|
R5100:Lpin2
|
UTSW |
17 |
71,550,965 (GRCm39) |
nonsense |
probably null |
|
|
R5101:Lpin2
|
UTSW |
17 |
71,550,965 (GRCm39) |
nonsense |
probably null |
|
|
R5152:Lpin2
|
UTSW |
17 |
71,552,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5216:Lpin2
|
UTSW |
17 |
71,549,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5321:Lpin2
|
UTSW |
17 |
71,553,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Lpin2
|
UTSW |
17 |
71,550,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Lpin2
|
UTSW |
17 |
71,551,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Lpin2
|
UTSW |
17 |
71,537,268 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5869:Lpin2
|
UTSW |
17 |
71,539,271 (GRCm39) |
unclassified |
probably benign |
|
|
R5894:Lpin2
|
UTSW |
17 |
71,553,929 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6116:Lpin2
|
UTSW |
17 |
71,550,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6253:Lpin2
|
UTSW |
17 |
71,538,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Lpin2
|
UTSW |
17 |
71,539,243 (GRCm39) |
unclassified |
probably benign |
|
|
R6443:Lpin2
|
UTSW |
17 |
71,548,663 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6528:Lpin2
|
UTSW |
17 |
71,551,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6634:Lpin2
|
UTSW |
17 |
71,553,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6828:Lpin2
|
UTSW |
17 |
71,529,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Lpin2
|
UTSW |
17 |
71,522,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Lpin2
|
UTSW |
17 |
71,551,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7067:Lpin2
|
UTSW |
17 |
71,551,853 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7583:Lpin2
|
UTSW |
17 |
71,538,391 (GRCm39) |
nonsense |
probably null |
|
|
R7806:Lpin2
|
UTSW |
17 |
71,552,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Lpin2
|
UTSW |
17 |
71,537,269 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8011:Lpin2
|
UTSW |
17 |
71,537,370 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8553:Lpin2
|
UTSW |
17 |
71,538,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8879:Lpin2
|
UTSW |
17 |
71,549,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Lpin2
|
UTSW |
17 |
71,511,871 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8983:Lpin2
|
UTSW |
17 |
71,553,962 (GRCm39) |
missense |
unknown |
|
|
R9109:Lpin2
|
UTSW |
17 |
71,538,516 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9184:Lpin2
|
UTSW |
17 |
71,540,911 (GRCm39) |
nonsense |
probably null |
|
|
R9242:Lpin2
|
UTSW |
17 |
71,553,966 (GRCm39) |
makesense |
probably null |
|
|
R9447:Lpin2
|
UTSW |
17 |
71,539,087 (GRCm39) |
missense |
unknown |
|
|
R9573:Lpin2
|
UTSW |
17 |
71,538,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9603:Lpin2
|
UTSW |
17 |
71,550,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Lpin2
|
UTSW |
17 |
71,529,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lpin2
|
UTSW |
17 |
71,532,206 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation