Incidental Mutation 'R8879:Lpin2'
| ID |
676801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
068747-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R8879 (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 C
at 71549749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 676
(L676P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126681]
[ENSMUST00000129635]
|
| AlphaFold |
Q99PI5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126681
AA Change: L676P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: L676P
| 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: L638P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: L638P
| 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 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (69/69) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
T |
15: 57,885,905 (GRCm39) |
V326M |
probably damaging |
Het |
| Adap2 |
T |
A |
11: 80,047,785 (GRCm39) |
H80Q |
probably benign |
Het |
| Ang4 |
T |
C |
14: 52,001,943 (GRCm39) |
T2A |
probably benign |
Het |
| Arf2 |
T |
C |
11: 103,870,585 (GRCm39) |
|
probably null |
Het |
| B3gnt4 |
A |
G |
5: 123,649,211 (GRCm39) |
D192G |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,102,103 (GRCm39) |
I54V |
probably benign |
Het |
| Catsper3 |
A |
G |
13: 55,952,708 (GRCm39) |
T202A |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,965,862 (GRCm39) |
D2113E |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,602,773 (GRCm39) |
V191A |
probably benign |
Het |
| Col5a1 |
G |
T |
2: 27,904,170 (GRCm39) |
A1356S |
unknown |
Het |
| Cuzd1 |
A |
G |
7: 130,910,577 (GRCm39) |
S573P |
probably damaging |
Het |
| Cyp1a2 |
C |
A |
9: 57,589,168 (GRCm39) |
M215I |
possibly damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,893,746 (GRCm39) |
I122K |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,431,006 (GRCm39) |
I232V |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,895,181 (GRCm39) |
E3570G |
probably damaging |
Het |
| Dnaja4 |
A |
T |
9: 54,621,988 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,581,781 (GRCm39) |
I41T |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,348,354 (GRCm39) |
D444G |
probably damaging |
Het |
| Ehmt1 |
T |
A |
2: 24,726,488 (GRCm39) |
M766L |
possibly damaging |
Het |
| Eno4 |
A |
G |
19: 58,959,154 (GRCm39) |
I613M |
probably benign |
Het |
| Exoc3l |
A |
T |
8: 106,017,181 (GRCm39) |
M602K |
|
Het |
| Fam107a |
C |
T |
14: 8,301,352 (GRCm38) |
|
probably null |
Het |
| Frem3 |
A |
T |
8: 81,339,777 (GRCm39) |
D690V |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 36,239,022 (GRCm39) |
D97V |
probably damaging |
Het |
| Grik5 |
T |
A |
7: 24,722,489 (GRCm39) |
D540V |
possibly damaging |
Het |
| Hint1 |
T |
A |
11: 54,760,769 (GRCm39) |
D69E |
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,010,211 (GRCm39) |
T257A |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,006,618 (GRCm39) |
E76G |
probably benign |
Het |
| Lrrc8a |
A |
G |
2: 30,146,310 (GRCm39) |
M375V |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,925,017 (GRCm39) |
Q50R |
possibly damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,953,513 (GRCm39) |
L598Q |
probably damaging |
Het |
| Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,125,592 (GRCm39) |
D475G |
|
Het |
| Notch2 |
A |
G |
3: 98,042,915 (GRCm39) |
S1427G |
possibly damaging |
Het |
| Odad4 |
G |
T |
11: 100,457,752 (GRCm39) |
E452* |
probably null |
Het |
| Opcml |
T |
C |
9: 28,813,447 (GRCm39) |
F246S |
probably damaging |
Het |
| Or10al2 |
C |
A |
17: 37,983,302 (GRCm39) |
Y129* |
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,296 (GRCm39) |
I214N |
probably damaging |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,775,893 (GRCm39) |
V195A |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,731 (GRCm39) |
C139R |
probably damaging |
Het |
| Or8g33 |
A |
C |
9: 39,337,515 (GRCm39) |
V284G |
possibly damaging |
Het |
| Pdzd2 |
C |
A |
15: 12,402,405 (GRCm39) |
V729F |
probably damaging |
Het |
| Pias2 |
C |
T |
18: 77,234,464 (GRCm39) |
Q565* |
probably null |
Het |
| Pnp |
T |
A |
14: 51,188,177 (GRCm39) |
|
probably null |
Het |
| Ptpn18 |
T |
C |
1: 34,502,211 (GRCm39) |
S76P |
probably benign |
Het |
| Qtrt2 |
A |
T |
16: 43,683,560 (GRCm39) |
L304Q |
probably damaging |
Het |
| Rad51ap2 |
A |
T |
12: 11,507,401 (GRCm39) |
E441V |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,313,711 (GRCm39) |
V1477E |
probably benign |
Het |
| Repin1 |
C |
T |
6: 48,574,367 (GRCm39) |
T432I |
possibly damaging |
Het |
| Rest |
G |
A |
5: 77,430,358 (GRCm39) |
G926R |
probably benign |
Het |
| Rnft1 |
T |
A |
11: 86,377,516 (GRCm39) |
F143L |
possibly damaging |
Het |
| Sema3e |
A |
T |
5: 14,282,108 (GRCm39) |
I415L |
probably benign |
Het |
| Slc10a1 |
T |
A |
12: 81,014,369 (GRCm39) |
N117I |
probably damaging |
Het |
| Slc25a23 |
G |
A |
17: 57,366,709 (GRCm39) |
|
probably benign |
Het |
| Slc2a2 |
T |
C |
3: 28,767,951 (GRCm39) |
S160P |
possibly damaging |
Het |
| Srrd |
A |
G |
5: 112,486,322 (GRCm39) |
V178A |
possibly damaging |
Het |
| Tmigd3 |
G |
T |
3: 105,829,277 (GRCm39) |
G198C |
probably benign |
Het |
| Trbv28 |
G |
A |
6: 41,248,339 (GRCm39) |
M1I |
probably null |
Het |
| Tril |
A |
G |
6: 53,796,569 (GRCm39) |
S218P |
probably damaging |
Het |
| Trip11 |
T |
C |
12: 101,828,857 (GRCm39) |
K1749R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,660,995 (GRCm39) |
V12011A |
|
Het |
| Ubr4 |
T |
G |
4: 139,137,829 (GRCm39) |
F1093V |
probably benign |
Het |
| Urb2 |
C |
A |
8: 124,755,142 (GRCm39) |
A283E |
probably benign |
Het |
| Usp43 |
T |
A |
11: 67,789,707 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
A |
T |
6: 58,242,669 (GRCm39) |
I171F |
probably benign |
Het |
| Vps33a |
G |
A |
5: 123,671,962 (GRCm39) |
R469W |
probably damaging |
Het |
| Zfp202 |
G |
A |
9: 40,123,053 (GRCm39) |
R605Q |
probably damaging |
Het |
| Zpbp2 |
A |
T |
11: 98,445,446 (GRCm39) |
H158L |
probably benign |
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 |
|
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 |
|
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'- TCTCATCAGTCAGATACACTGCC -3'
(R):5'- GGCATTGCTCTACTGTCCTG -3'
Sequencing Primer
(F):5'- AGTCAGATACACTGCCTGTTTG -3'
(R):5'- CTACTGTCCTGAGTCCTGAGAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation