Incidental Mutation 'R7840:Lpin2'
| ID |
606259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
045894-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R7840 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 71537269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 272
(T272N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126681]
[ENSMUST00000129635]
[ENSMUST00000135589]
[ENSMUST00000156570]
|
| AlphaFold |
Q99PI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126681
AA Change: T272N
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: T272N
| 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 benign
Transcript: ENSMUST00000129635
AA Change: T234N
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: T234N
| 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: ENSMUST00000135589
|
| SMART Domains |
Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052
| 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 |
possibly damaging
Transcript: ENSMUST00000156570
AA Change: T234N
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
AA Change: T234N
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (73/74) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,074,689 (GRCm39) |
N577S |
probably benign |
Het |
| Ang4 |
A |
G |
14: 52,001,529 (GRCm39) |
S140P |
probably damaging |
Het |
| Ankdd1b |
T |
C |
13: 96,556,306 (GRCm39) |
|
probably null |
Het |
| Anln |
G |
T |
9: 22,274,019 (GRCm39) |
A606D |
probably benign |
Het |
| Ano5 |
T |
G |
7: 51,237,480 (GRCm39) |
V768G |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,900,461 (GRCm39) |
Y275F |
possibly damaging |
Het |
| Chpf |
T |
C |
1: 75,453,271 (GRCm39) |
Y334C |
probably damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,682,863 (GRCm39) |
L381S |
probably damaging |
Het |
| Cibar2 |
T |
C |
8: 120,893,372 (GRCm39) |
D273G |
probably benign |
Het |
| Cox20 |
A |
T |
1: 178,150,126 (GRCm39) |
Y100F |
probably benign |
Het |
| Dbn1 |
T |
C |
13: 55,623,322 (GRCm39) |
D433G |
possibly damaging |
Het |
| Dclre1a |
A |
T |
19: 56,519,684 (GRCm39) |
I983N |
probably damaging |
Het |
| Dok6 |
A |
T |
18: 89,578,182 (GRCm39) |
H78Q |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,624,539 (GRCm39) |
D878N |
probably benign |
Het |
| Fpr1 |
A |
T |
17: 18,097,634 (GRCm39) |
F118L |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,430,175 (GRCm39) |
Y115C |
probably damaging |
Het |
| Gabra4 |
A |
C |
5: 71,798,256 (GRCm39) |
|
probably null |
Het |
| Gm45861 |
T |
C |
8: 28,072,751 (GRCm39) |
V1290A |
unknown |
Het |
| Hivep1 |
T |
C |
13: 42,308,828 (GRCm39) |
V356A |
probably benign |
Het |
| Ikbip |
T |
C |
10: 90,937,617 (GRCm39) |
Y97H |
possibly damaging |
Het |
| Il10 |
A |
G |
1: 130,947,805 (GRCm39) |
T53A |
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,526 (GRCm39) |
V959A |
probably benign |
Het |
| Insr |
T |
C |
8: 3,308,415 (GRCm39) |
E207G |
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,503,731 (GRCm39) |
S1012T |
probably damaging |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Ksr2 |
T |
C |
5: 117,693,329 (GRCm39) |
V259A |
probably benign |
Het |
| Lox |
A |
T |
18: 52,658,194 (GRCm39) |
Y326* |
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,295,128 (GRCm39) |
E3397K |
probably damaging |
Het |
| Megf11 |
G |
A |
9: 64,602,709 (GRCm39) |
C850Y |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,319,147 (GRCm39) |
F284L |
probably benign |
Het |
| Moxd2 |
T |
A |
6: 40,862,378 (GRCm39) |
D147V |
possibly damaging |
Het |
| Mrpl21 |
T |
C |
19: 3,337,752 (GRCm39) |
L153P |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,280,917 (GRCm39) |
T1432A |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,451,979 (GRCm39) |
D211V |
probably damaging |
Het |
| Ncoa5 |
T |
C |
2: 164,854,816 (GRCm39) |
H102R |
possibly damaging |
Het |
| Ndel1 |
A |
T |
11: 68,720,806 (GRCm39) |
C293* |
probably null |
Het |
| Ninl |
A |
T |
2: 150,808,016 (GRCm39) |
M82K |
probably benign |
Het |
| Nrcam |
G |
A |
12: 44,587,858 (GRCm39) |
|
probably null |
Het |
| Nup210l |
A |
T |
3: 90,030,036 (GRCm39) |
I250L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,968,776 (GRCm39) |
E2532G |
possibly damaging |
Het |
| Or1e1 |
C |
A |
11: 73,244,585 (GRCm39) |
A2E |
probably benign |
Het |
| Or5v1 |
G |
T |
17: 37,809,868 (GRCm39) |
G109C |
probably damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,583 (GRCm39) |
F146L |
probably benign |
Het |
| Osgin1 |
G |
A |
8: 120,171,773 (GRCm39) |
S189N |
possibly damaging |
Het |
| Otud7b |
A |
G |
3: 96,062,690 (GRCm39) |
E643G |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,571,727 (GRCm39) |
T1222S |
probably damaging |
Het |
| Pwp1 |
C |
T |
10: 85,723,914 (GRCm39) |
R472W |
probably damaging |
Het |
| Rad21 |
T |
C |
15: 51,836,538 (GRCm39) |
Y211C |
probably damaging |
Het |
| Rexo1 |
A |
G |
10: 80,386,572 (GRCm39) |
V162A |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,560,589 (GRCm39) |
V417I |
probably benign |
Het |
| Setbp1 |
G |
A |
18: 78,826,639 (GRCm39) |
P1325S |
probably benign |
Het |
| Shld1 |
A |
G |
2: 132,592,510 (GRCm39) |
T186A |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,959,523 (GRCm39) |
Y820H |
probably damaging |
Het |
| Skint7 |
G |
T |
4: 111,839,423 (GRCm39) |
C239F |
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,744,138 (GRCm39) |
L221P |
probably benign |
Het |
| Snrnp70 |
T |
A |
7: 45,026,214 (GRCm39) |
D385V |
unknown |
Het |
| Sp7 |
A |
C |
15: 102,267,533 (GRCm39) |
V109G |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,082,078 (GRCm39) |
Y849N |
probably damaging |
Het |
| Tas2r108 |
T |
C |
6: 40,470,790 (GRCm39) |
F89L |
possibly damaging |
Het |
| Tcf3 |
C |
T |
10: 80,246,301 (GRCm39) |
A581T |
possibly damaging |
Het |
| Tcta |
A |
G |
9: 108,182,986 (GRCm39) |
L53P |
probably damaging |
Het |
| Traf3ip2 |
C |
G |
10: 39,502,451 (GRCm39) |
Q200E |
probably damaging |
Het |
| Trgc1 |
A |
T |
13: 19,400,691 (GRCm39) |
Y140F |
|
Het |
| Tyk2 |
A |
T |
9: 21,036,263 (GRCm39) |
C75S |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,311,903 (GRCm39) |
G382R |
probably damaging |
Het |
| Upp2 |
G |
T |
2: 58,664,127 (GRCm39) |
|
probably null |
Het |
| Vmn1r212 |
A |
T |
13: 23,067,323 (GRCm39) |
F337I |
unknown |
Het |
| Vmn1r58 |
T |
C |
7: 5,414,242 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,830,246 (GRCm39) |
V2856D |
|
Het |
| Wdr37 |
A |
C |
13: 8,886,911 (GRCm39) |
L292R |
probably damaging |
Het |
| Yipf3 |
T |
C |
17: 46,561,790 (GRCm39) |
I199T |
probably benign |
Het |
| Zdhhc23 |
A |
G |
16: 43,791,907 (GRCm39) |
S289P |
possibly damaging |
Het |
| Zfp229 |
A |
T |
17: 21,965,131 (GRCm39) |
K454* |
probably null |
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 |
|
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'- AGCCCTTAATAATCCTAGCTGG -3'
(R):5'- CTCTGAGTTTGGTGAGAAATCGC -3'
Sequencing Primer
(F):5'- AGGAATGTGCAGCTCACA -3'
(R):5'- ATCGCTTCTTTCATTTAATGGAGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation