Incidental Mutation 'IGL01712:Lpin2'
| ID |
104818 |
| 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 # |
IGL01712
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71522063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 32
(D32E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126681]
[ENSMUST00000129635]
[ENSMUST00000135589]
[ENSMUST00000156570]
|
| AlphaFold |
Q99PI5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126681
AA Change: D70E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: D70E
| 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: D32E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: D32E
| 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 |
probably damaging
Transcript: ENSMUST00000135589
AA Change: D70E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052
AA Change: D70E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
39 |
152 |
2.3e-54 |
PFAM |
|
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142842
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149973
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156570
AA Change: D32E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
AA Change: D32E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
8.5e-54 |
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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,776,321 (GRCm39) |
I164N |
possibly damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,865,360 (GRCm39) |
V161A |
probably benign |
Het |
| Arhgdib |
G |
A |
6: 136,901,195 (GRCm39) |
T178M |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,901,138 (GRCm39) |
I989K |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,492,692 (GRCm39) |
S498G |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,471,874 (GRCm39) |
I728V |
probably damaging |
Het |
| Cep57 |
G |
T |
9: 13,724,713 (GRCm39) |
P119Q |
possibly damaging |
Het |
| Cimip2a |
T |
C |
2: 25,108,804 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,106,036 (GRCm39) |
I73N |
probably damaging |
Het |
| Cpa4 |
A |
G |
6: 30,590,815 (GRCm39) |
D371G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,462,429 (GRCm39) |
S3721P |
probably benign |
Het |
| Fcrla |
T |
C |
1: 170,749,192 (GRCm39) |
|
probably null |
Het |
| Foxg1 |
T |
C |
12: 49,432,403 (GRCm39) |
S379P |
possibly damaging |
Het |
| Gatm |
T |
A |
2: 122,431,306 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Grid2 |
A |
T |
6: 64,642,899 (GRCm39) |
D887V |
possibly damaging |
Het |
| Gtpbp6 |
A |
T |
5: 110,252,245 (GRCm39) |
I429N |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,323,038 (GRCm39) |
|
probably benign |
Het |
| Irs4 |
T |
C |
X: 140,505,395 (GRCm39) |
N934D |
unknown |
Het |
| Kif16b |
T |
A |
2: 142,490,391 (GRCm39) |
N1257I |
probably damaging |
Het |
| L1cam |
T |
C |
X: 72,908,044 (GRCm39) |
Y169C |
probably damaging |
Het |
| L3mbtl3 |
A |
T |
10: 26,152,133 (GRCm39) |
M821K |
probably damaging |
Het |
| Lig3 |
A |
G |
11: 82,680,367 (GRCm39) |
|
probably benign |
Het |
| Mcoln3 |
T |
C |
3: 145,834,019 (GRCm39) |
|
probably benign |
Het |
| Mgst2 |
T |
C |
3: 51,571,992 (GRCm39) |
V40A |
probably damaging |
Het |
| Mov10l1 |
T |
C |
15: 88,908,969 (GRCm39) |
S997P |
probably damaging |
Het |
| Mycbpap |
G |
T |
11: 94,403,481 (GRCm39) |
H187Q |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,519,673 (GRCm39) |
S478T |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,848 (GRCm39) |
T267S |
probably benign |
Het |
| Or52h7 |
T |
C |
7: 104,214,226 (GRCm39) |
V266A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,306 (GRCm39) |
I229F |
probably damaging |
Het |
| Pfas |
A |
G |
11: 68,881,886 (GRCm39) |
V933A |
probably benign |
Het |
| Phldb2 |
A |
T |
16: 45,571,792 (GRCm39) |
I1200N |
probably damaging |
Het |
| Pla2g4e |
C |
A |
2: 120,019,884 (GRCm39) |
|
probably null |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Rhot2 |
A |
G |
17: 26,060,334 (GRCm39) |
|
probably null |
Het |
| Serpina3f |
C |
T |
12: 104,184,657 (GRCm39) |
P267L |
probably damaging |
Het |
| Sppl2a |
C |
T |
2: 126,746,823 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
A |
T |
6: 132,688,725 (GRCm39) |
M56K |
possibly damaging |
Het |
| Tbxas1 |
A |
G |
6: 39,057,994 (GRCm39) |
T450A |
probably benign |
Het |
| Tex16 |
T |
C |
X: 111,003,451 (GRCm39) |
S87P |
probably damaging |
Het |
| Them7 |
T |
A |
2: 105,209,230 (GRCm39) |
F183L |
possibly damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,720,074 (GRCm39) |
T116A |
probably damaging |
Het |
| Tomm40 |
G |
T |
7: 19,437,288 (GRCm39) |
S224R |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,652,562 (GRCm39) |
I84N |
probably damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,393 (GRCm39) |
T79A |
probably benign |
Het |
| Vmn2r61 |
A |
T |
7: 41,909,661 (GRCm39) |
Y62F |
probably damaging |
Het |
| Zbtb42 |
T |
C |
12: 112,646,718 (GRCm39) |
C298R |
probably benign |
Het |
| Zfp395 |
G |
A |
14: 65,623,836 (GRCm39) |
E102K |
probably damaging |
Het |
|
| Other mutations in Lpin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Lpin2
|
APN |
17 |
71,550,967 (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 |
2014-01-21 |
Incidental Mutation