Incidental Mutation 'R5216:Lpin2'
| ID |
403502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
042789-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R5216 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71549755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 640
(S640L)
|
| 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: S678L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: S678L
| 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: S640L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: S640L
| 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: ENSMUST00000156565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
T |
12: 55,107,947 (GRCm39) |
V84D |
probably damaging |
Het |
| Abcb1b |
T |
C |
5: 8,863,705 (GRCm39) |
V220A |
probably benign |
Het |
| Actg1 |
A |
T |
11: 120,238,580 (GRCm39) |
M82K |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,975 (GRCm39) |
S103P |
probably benign |
Het |
| Aldh1b1 |
G |
T |
4: 45,803,652 (GRCm39) |
G397C |
probably damaging |
Het |
| Arhgef3 |
A |
G |
14: 27,123,799 (GRCm39) |
T507A |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,701,910 (GRCm39) |
D682G |
probably damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,159,102 (GRCm39) |
I783T |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,516,808 (GRCm39) |
I362V |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,920,465 (GRCm39) |
I168K |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,445 (GRCm39) |
Y2070N |
probably damaging |
Het |
| Cabp7 |
A |
G |
11: 4,688,873 (GRCm39) |
I199T |
probably damaging |
Het |
| Cacng5 |
A |
G |
11: 107,768,315 (GRCm39) |
F231L |
possibly damaging |
Het |
| Cngb3 |
T |
A |
4: 19,415,729 (GRCm39) |
V413D |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,021,071 (GRCm39) |
E481K |
possibly damaging |
Het |
| Cspg4b |
G |
A |
13: 113,478,947 (GRCm39) |
C1497Y |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,644,665 (GRCm39) |
I560N |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,833 (GRCm39) |
D230G |
probably damaging |
Het |
| Gramd4 |
G |
A |
15: 86,018,986 (GRCm39) |
|
probably null |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,594,695 (GRCm39) |
N317Y |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,346,757 (GRCm39) |
S623P |
probably benign |
Het |
| Klhl20 |
A |
G |
1: 160,921,249 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Mgll |
T |
A |
6: 88,743,311 (GRCm39) |
C110* |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,675,120 (GRCm39) |
N251D |
possibly damaging |
Het |
| Or1e33 |
A |
T |
11: 73,738,262 (GRCm39) |
S230T |
probably damaging |
Het |
| Or52k2 |
A |
G |
7: 102,254,028 (GRCm39) |
T156A |
probably benign |
Het |
| Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
| Pfkl |
T |
G |
10: 77,845,504 (GRCm39) |
D5A |
probably damaging |
Het |
| Pik3c3 |
A |
G |
18: 30,406,029 (GRCm39) |
Y9C |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,359,043 (GRCm39) |
Y417* |
probably null |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,867,098 (GRCm39) |
M94K |
probably benign |
Het |
| Synrg |
A |
G |
11: 83,873,022 (GRCm39) |
T157A |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,478,118 (GRCm39) |
N102S |
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,661,149 (GRCm39) |
R101H |
probably damaging |
Het |
| Trmt2a |
A |
G |
16: 18,070,048 (GRCm39) |
D421G |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,090 (GRCm39) |
D57G |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,868,661 (GRCm39) |
L43P |
possibly damaging |
Het |
| Zfp113 |
C |
T |
5: 138,148,977 (GRCm39) |
D56N |
probably damaging |
Het |
| Zfp184 |
C |
T |
13: 22,134,406 (GRCm39) |
L69F |
probably damaging |
Het |
| Zyx |
T |
C |
6: 42,333,466 (GRCm39) |
V464A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCAGTCAGATACACTGCC -3'
(R):5'- AGGCATTGCTCTACTGTCCTG -3'
Sequencing Primer
(F):5'- AGTCAGATACACTGCCTGTTTG -3'
(R):5'- CTACTGTCCTGAGTCCTGAGAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation