Incidental Mutation 'R6885:Lpin2'
| ID |
536817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
045031-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R6885 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 71522145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 60
(S60A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126681]
[ENSMUST00000129635]
[ENSMUST00000135589]
[ENSMUST00000156570]
|
| AlphaFold |
Q99PI5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126681
AA Change: S98A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: S98A
| 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: S60A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: S60A
| 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 |
possibly damaging
Transcript: ENSMUST00000135589
AA Change: S98A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052
AA Change: S98A
| 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 |
probably damaging
Transcript: ENSMUST00000156570
AA Change: S60A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
AA Change: S60A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,119,332 (GRCm39) |
I1025M |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,179,465 (GRCm39) |
T164S |
probably benign |
Het |
| Ankar |
C |
T |
1: 72,682,195 (GRCm39) |
A1239T |
unknown |
Het |
| Aox4 |
A |
T |
1: 58,303,537 (GRCm39) |
S1192C |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,159,982 (GRCm39) |
D68G |
probably damaging |
Het |
| Btnl4 |
T |
C |
17: 34,691,919 (GRCm39) |
I228V |
probably benign |
Het |
| Catsper4 |
T |
C |
4: 133,942,460 (GRCm39) |
T231A |
probably benign |
Het |
| Ccl12 |
A |
T |
11: 81,993,523 (GRCm39) |
T54S |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,140,980 (GRCm39) |
|
probably null |
Het |
| Cog5 |
T |
A |
12: 31,944,198 (GRCm39) |
D694E |
probably damaging |
Het |
| Crat |
T |
A |
2: 30,305,208 (GRCm39) |
|
probably benign |
Het |
| Crot |
T |
C |
5: 9,023,635 (GRCm39) |
T418A |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,323,089 (GRCm39) |
P2826L |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,981,598 (GRCm39) |
F1698L |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,124,742 (GRCm39) |
D1019E |
possibly damaging |
Het |
| Eps15 |
A |
G |
4: 109,166,361 (GRCm39) |
N85D |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,706,889 (GRCm39) |
S457P |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 52,965,088 (GRCm39) |
T426I |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,489 (GRCm39) |
S747P |
possibly damaging |
Het |
| Gas7 |
A |
G |
11: 67,574,213 (GRCm39) |
D396G |
probably damaging |
Het |
| Gm5114 |
G |
T |
7: 39,057,580 (GRCm39) |
R680S |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,395,994 (GRCm39) |
L94M |
possibly damaging |
Het |
| Gse1 |
C |
A |
8: 120,956,221 (GRCm39) |
|
probably benign |
Het |
| Hmgb1 |
T |
C |
5: 148,987,471 (GRCm39) |
E26G |
probably benign |
Het |
| Incenp |
C |
T |
19: 9,852,496 (GRCm39) |
R714Q |
unknown |
Het |
| Krt73 |
T |
C |
15: 101,704,833 (GRCm39) |
E351G |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,938,121 (GRCm39) |
|
probably null |
Het |
| Lrrc71 |
T |
C |
3: 87,649,927 (GRCm39) |
|
probably null |
Het |
| Mafb |
A |
G |
2: 160,207,939 (GRCm39) |
S220P |
possibly damaging |
Het |
| Maml3 |
TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
3: 51,605,000 (GRCm39) |
|
|
Het |
| Mcmbp |
T |
C |
7: 128,326,833 (GRCm39) |
|
probably null |
Het |
| Or1e30 |
A |
T |
11: 73,677,926 (GRCm39) |
H54L |
possibly damaging |
Het |
| Or4s2 |
A |
G |
2: 88,473,941 (GRCm39) |
T277A |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,096 (GRCm39) |
S29P |
probably benign |
Het |
| Parm1 |
A |
G |
5: 91,742,069 (GRCm39) |
T146A |
possibly damaging |
Het |
| Pgm2 |
T |
A |
5: 64,261,221 (GRCm39) |
F238L |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,392,792 (GRCm39) |
F126Y |
probably damaging |
Het |
| Pitx2 |
T |
C |
3: 129,012,257 (GRCm39) |
M222T |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,355,693 (GRCm39) |
N37S |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,520,103 (GRCm39) |
C116R |
probably damaging |
Het |
| Psme4 |
A |
T |
11: 30,784,307 (GRCm39) |
K961* |
probably null |
Het |
| Rbpj |
T |
C |
5: 53,810,493 (GRCm39) |
W392R |
probably damaging |
Het |
| Reg3a |
T |
A |
6: 78,358,038 (GRCm39) |
|
probably null |
Het |
| Rfc3 |
C |
T |
5: 151,571,749 (GRCm39) |
S85N |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,696 (GRCm39) |
T80A |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,659,985 (GRCm39) |
T195A |
probably damaging |
Het |
| Ska1 |
A |
G |
18: 74,339,910 (GRCm39) |
V12A |
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,745,294 (GRCm39) |
V80A |
probably benign |
Het |
| Slc26a5 |
A |
T |
5: 22,039,342 (GRCm39) |
V217D |
probably damaging |
Het |
| Slc46a1 |
A |
G |
11: 78,357,805 (GRCm39) |
D286G |
probably benign |
Het |
| Spata2l |
A |
T |
8: 123,962,297 (GRCm39) |
L88Q |
probably damaging |
Het |
| Sptbn1 |
T |
G |
11: 30,088,634 (GRCm39) |
Q876P |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,914,407 (GRCm39) |
I2377F |
possibly damaging |
Het |
| Thbs4 |
A |
T |
13: 92,899,377 (GRCm39) |
D539E |
probably damaging |
Het |
| Tmem154 |
T |
A |
3: 84,599,813 (GRCm39) |
C162S |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,682,502 (GRCm39) |
E502G |
probably benign |
Het |
| Traf7 |
G |
A |
17: 24,731,266 (GRCm39) |
R257C |
probably benign |
Het |
| Tsc22d2 |
T |
C |
3: 58,323,629 (GRCm39) |
Y174H |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,594,230 (GRCm39) |
E802G |
probably damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,963,042 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,600,457 (GRCm39) |
S494T |
possibly damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,568,517 (GRCm39) |
F856L |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAAACCATGAATTATGTGGGCC -3'
(R):5'- GTTCTGAGTCTCTTCATGATTTCAG -3'
Sequencing Primer
(F):5'- CCATGAATTATGTGGGCCAGCTG -3'
(R):5'- GGTCTTCAATAGCATGCAAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation