Incidental Mutation 'IGL02600:Lpin2'
| ID |
300028 |
| 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: 0.411)
|
| Stock # |
IGL02600
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71182560-71249817 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71238698 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 513
(N513S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000126681
AA Change: N551S
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: N551S
| 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: N513S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: N513S
| 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: ENSMUST00000130750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142842
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154507
AA Change: N9S
|
| SMART Domains |
Protein: ENSMUSP00000127035
Gene: ENSMUSG00000024052
AA Change: N9S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_mid
|
1 |
55 |
2.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,309,438 |
I483L |
probably benign |
Het |
| Bmpr1b |
A |
C |
3: 141,840,727 |
M466R |
probably damaging |
Het |
| Casp8ap2 |
G |
A |
4: 32,630,246 |
D42N |
probably null |
Het |
| Crebbp |
T |
A |
16: 4,155,018 |
T271S |
probably benign |
Het |
| Ddx27 |
A |
G |
2: 167,026,204 |
H319R |
probably damaging |
Het |
| Gckr |
A |
G |
5: 31,305,030 |
M236V |
probably benign |
Het |
| Gm28044 |
A |
C |
13: 67,320,961 |
|
probably benign |
Het |
| Gmnc |
T |
A |
16: 26,962,891 |
|
probably benign |
Het |
| Gpx3 |
C |
A |
11: 54,909,607 |
D210E |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 67,083,401 |
R170C |
probably damaging |
Het |
| Nrxn3 |
G |
T |
12: 89,511,912 |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 55,863,992 |
I373V |
probably benign |
Het |
| Olfr532 |
T |
C |
7: 140,418,949 |
T275A |
probably benign |
Het |
| Olfr711 |
A |
G |
7: 106,971,549 |
I265T |
possibly damaging |
Het |
| Padi3 |
A |
G |
4: 140,798,156 |
V172A |
probably benign |
Het |
| Pdzd2 |
C |
A |
15: 12,411,019 |
G554W |
probably damaging |
Het |
| Plekhg6 |
G |
A |
6: 125,370,600 |
R464* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 108,068,302 |
R390* |
probably null |
Het |
| Serinc1 |
A |
G |
10: 57,523,031 |
S259P |
probably benign |
Het |
| Slfn4 |
T |
A |
11: 83,187,006 |
S207T |
possibly damaging |
Het |
| Stab2 |
C |
T |
10: 86,954,259 |
G548R |
probably damaging |
Het |
| Tmem229b-ps |
T |
C |
10: 53,474,956 |
|
noncoding transcript |
Het |
| Ttn |
G |
A |
2: 76,740,165 |
P26795S |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,597,567 |
M661V |
probably benign |
Het |
| Wdr34 |
T |
A |
2: 30,033,302 |
D263V |
possibly damaging |
Het |
| Ybey |
G |
A |
10: 76,464,331 |
|
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,466,885 |
D715G |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,600,974 |
|
probably benign |
Het |
|
| Other mutations in Lpin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Lpin2
|
APN |
17 |
71243972 |
missense |
probably damaging |
1.00 |
|
IGL01712:Lpin2
|
APN |
17 |
71215068 |
missense |
probably damaging |
1.00 |
|
IGL01727:Lpin2
|
APN |
17 |
71246452 |
missense |
probably damaging |
1.00 |
|
IGL01969:Lpin2
|
APN |
17 |
71231507 |
missense |
probably benign |
0.00 |
|
IGL02143:Lpin2
|
APN |
17 |
71243926 |
missense |
probably damaging |
1.00 |
|
IGL02931:Lpin2
|
APN |
17 |
71238683 |
missense |
probably damaging |
1.00 |
|
aspen
|
UTSW |
17 |
71243970 |
nonsense |
probably null |
|
|
R1570_Lpin2_218
|
UTSW |
17 |
71245181 |
nonsense |
probably null |
|
|
R0144:Lpin2
|
UTSW |
17 |
71225076 |
missense |
probably damaging |
1.00 |
|
R0165:Lpin2
|
UTSW |
17 |
71246519 |
missense |
probably damaging |
1.00 |
|
R0367:Lpin2
|
UTSW |
17 |
71215022 |
missense |
probably damaging |
1.00 |
|
R0648:Lpin2
|
UTSW |
17 |
71229312 |
missense |
probably benign |
0.01 |
|
R1564:Lpin2
|
UTSW |
17 |
71225060 |
missense |
probably benign |
0.01 |
|
R1570:Lpin2
|
UTSW |
17 |
71245181 |
nonsense |
probably null |
|
|
R1846:Lpin2
|
UTSW |
17 |
71225069 |
missense |
probably benign |
0.00 |
|
R3607:Lpin2
|
UTSW |
17 |
71229392 |
missense |
probably damaging |
1.00 |
|
R4006:Lpin2
|
UTSW |
17 |
71246501 |
missense |
probably damaging |
1.00 |
|
R4526:Lpin2
|
UTSW |
17 |
71237378 |
splice site |
probably null |
|
|
R4705:Lpin2
|
UTSW |
17 |
71232143 |
unclassified |
probably benign |
|
|
R4949:Lpin2
|
UTSW |
17 |
71231339 |
missense |
probably damaging |
1.00 |
|
R4970:Lpin2
|
UTSW |
17 |
71231334 |
missense |
probably damaging |
0.98 |
|
R5099:Lpin2
|
UTSW |
17 |
71243970 |
nonsense |
probably null |
|
|
R5100:Lpin2
|
UTSW |
17 |
71243970 |
nonsense |
probably null |
|
|
R5101:Lpin2
|
UTSW |
17 |
71243970 |
nonsense |
probably null |
|
|
R5152:Lpin2
|
UTSW |
17 |
71245159 |
missense |
probably damaging |
1.00 |
|
R5216:Lpin2
|
UTSW |
17 |
71242760 |
missense |
probably damaging |
1.00 |
|
R5321:Lpin2
|
UTSW |
17 |
71246858 |
missense |
probably damaging |
1.00 |
|
R5457:Lpin2
|
UTSW |
17 |
71243372 |
missense |
probably damaging |
1.00 |
|
R5695:Lpin2
|
UTSW |
17 |
71244803 |
missense |
probably damaging |
1.00 |
|
R5786:Lpin2
|
UTSW |
17 |
71230273 |
missense |
probably benign |
0.03 |
|
R5869:Lpin2
|
UTSW |
17 |
71232276 |
unclassified |
probably benign |
|
|
R5894:Lpin2
|
UTSW |
17 |
71246934 |
missense |
probably benign |
0.39 |
|
R6116:Lpin2
|
UTSW |
17 |
71243930 |
missense |
probably damaging |
1.00 |
|
R6253:Lpin2
|
UTSW |
17 |
71231269 |
missense |
probably damaging |
1.00 |
|
R6280:Lpin2
|
UTSW |
17 |
71232248 |
unclassified |
probably benign |
|
|
R6443:Lpin2
|
UTSW |
17 |
71241668 |
missense |
probably benign |
0.25 |
|
R6528:Lpin2
|
UTSW |
17 |
71244005 |
missense |
probably damaging |
1.00 |
|
R6634:Lpin2
|
UTSW |
17 |
71246418 |
missense |
probably damaging |
1.00 |
|
R6828:Lpin2
|
UTSW |
17 |
71222128 |
missense |
probably damaging |
1.00 |
|
R6885:Lpin2
|
UTSW |
17 |
71215150 |
missense |
probably damaging |
1.00 |
|
R6930:Lpin2
|
UTSW |
17 |
71244791 |
missense |
probably damaging |
1.00 |
|
R7067:Lpin2
|
UTSW |
17 |
71244858 |
missense |
possibly damaging |
0.72 |
|
R7583:Lpin2
|
UTSW |
17 |
71231396 |
nonsense |
probably null |
|
|
R7806:Lpin2
|
UTSW |
17 |
71245171 |
missense |
probably damaging |
1.00 |
|
R7840:Lpin2
|
UTSW |
17 |
71230274 |
missense |
probably benign |
0.14 |
|
R8011:Lpin2
|
UTSW |
17 |
71230375 |
missense |
probably benign |
0.43 |
|
R8553:Lpin2
|
UTSW |
17 |
71231237 |
missense |
probably damaging |
1.00 |
|
R8879:Lpin2
|
UTSW |
17 |
71242754 |
missense |
probably damaging |
1.00 |
|
R8947:Lpin2
|
UTSW |
17 |
71204876 |
missense |
probably benign |
0.44 |
|
R8983:Lpin2
|
UTSW |
17 |
71246967 |
missense |
unknown |
|
|
R9109:Lpin2
|
UTSW |
17 |
71231521 |
critical splice donor site |
probably null |
|
|
R9184:Lpin2
|
UTSW |
17 |
71233916 |
nonsense |
probably null |
|
|
R9242:Lpin2
|
UTSW |
17 |
71246971 |
makesense |
probably null |
|
|
R9447:Lpin2
|
UTSW |
17 |
71232092 |
missense |
unknown |
|
|
R9573:Lpin2
|
UTSW |
17 |
71231190 |
missense |
probably benign |
0.00 |
|
R9603:Lpin2
|
UTSW |
17 |
71243415 |
missense |
probably damaging |
1.00 |
|
R9666:Lpin2
|
UTSW |
17 |
71222070 |
missense |
probably damaging |
1.00 |
|
Z1176:Lpin2
|
UTSW |
17 |
71225211 |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation