Incidental Mutation 'R0165:Lpin2'
ID |
24144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpin2
|
Ensembl Gene |
ENSMUSG00000024052 |
Gene Name |
lipin 2 |
Synonyms |
2610511G02Rik |
MMRRC Submission |
038441-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.473)
|
Stock # |
R0165 (G1)
|
Quality Score |
188 |
Status
|
Validated
(trace)
|
Chromosome |
17 |
Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 71553514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 846
(S846L)
|
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: S884L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118610 Gene: ENSMUSG00000024052 AA Change: S884L
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: S846L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119282 Gene: ENSMUSG00000024052 AA Change: S846L
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: ENSMUST00000133156
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156565
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
Meta Mutation Damage Score |
0.1963 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.2%
- 20x: 91.4%
|
Validation Efficiency |
96% (81/84) |
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 |
2700049A03Rik |
T |
C |
12: 71,213,924 (GRCm39) |
I717T |
possibly damaging |
Het |
6430571L13Rik |
A |
G |
9: 107,223,383 (GRCm39) |
|
probably benign |
Het |
Abca15 |
T |
A |
7: 119,950,126 (GRCm39) |
|
probably benign |
Het |
Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
Adgrl2 |
A |
G |
3: 148,558,499 (GRCm39) |
|
probably benign |
Het |
Agap3 |
A |
G |
5: 24,684,743 (GRCm39) |
T544A |
probably damaging |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,517,445 (GRCm39) |
S459P |
probably benign |
Het |
Armh4 |
A |
G |
14: 50,011,243 (GRCm39) |
S155P |
probably benign |
Het |
Ascc3 |
T |
A |
10: 50,718,223 (GRCm39) |
|
probably null |
Het |
Brd1 |
T |
C |
15: 88,613,980 (GRCm39) |
N305S |
probably damaging |
Het |
Catip |
T |
A |
1: 74,407,628 (GRCm39) |
L320Q |
possibly damaging |
Het |
Cplane1 |
G |
A |
15: 8,245,866 (GRCm39) |
V1413M |
probably damaging |
Het |
Cttnbp2 |
G |
A |
6: 18,435,409 (GRCm39) |
Q150* |
probably null |
Het |
Cyp2d22 |
T |
G |
15: 82,257,481 (GRCm39) |
N228T |
probably benign |
Het |
Dapk1 |
T |
C |
13: 60,909,407 (GRCm39) |
V1340A |
probably benign |
Het |
Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
Ddhd1 |
G |
A |
14: 45,833,049 (GRCm39) |
T849M |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 72,998,306 (GRCm39) |
S3987P |
probably benign |
Het |
Dst |
C |
A |
1: 34,193,727 (GRCm39) |
|
probably benign |
Het |
Epha2 |
T |
C |
4: 141,049,203 (GRCm39) |
|
probably null |
Het |
Ern2 |
T |
C |
7: 121,779,002 (GRCm39) |
T281A |
probably benign |
Het |
Extl1 |
A |
G |
4: 134,085,014 (GRCm39) |
F652S |
probably damaging |
Het |
Gckr |
A |
G |
5: 31,484,292 (GRCm39) |
S541G |
possibly damaging |
Het |
Gdap1l1 |
A |
G |
2: 163,293,419 (GRCm39) |
|
probably null |
Het |
Gm7535 |
T |
C |
17: 18,131,437 (GRCm39) |
|
probably benign |
Het |
Gmps |
T |
A |
3: 63,901,375 (GRCm39) |
I398N |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,917,414 (GRCm39) |
V1556A |
probably benign |
Het |
Il3ra |
T |
A |
14: 14,350,967 (GRCm38) |
N283K |
probably benign |
Het |
Ist1 |
A |
G |
8: 110,401,998 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
T |
18: 12,657,867 (GRCm39) |
I1934F |
probably damaging |
Het |
Lars1 |
A |
T |
18: 42,335,762 (GRCm39) |
M1118K |
possibly damaging |
Het |
Lrrc4b |
C |
A |
7: 44,111,739 (GRCm39) |
T537K |
probably damaging |
Het |
Ltn1 |
G |
A |
16: 87,202,407 (GRCm39) |
|
probably benign |
Het |
Meiob |
A |
G |
17: 25,054,135 (GRCm39) |
T401A |
probably benign |
Het |
Mettl21e |
G |
A |
1: 44,250,283 (GRCm39) |
T41M |
probably damaging |
Het |
Miga1 |
C |
T |
3: 151,996,480 (GRCm39) |
E323K |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,198,907 (GRCm39) |
|
probably null |
Het |
Or5p62 |
T |
C |
7: 107,771,882 (GRCm39) |
D23G |
probably benign |
Het |
Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
Parp6 |
T |
C |
9: 59,540,208 (GRCm39) |
Y274H |
probably damaging |
Het |
Prom2 |
A |
T |
2: 127,381,434 (GRCm39) |
|
probably benign |
Het |
Prune2 |
T |
A |
19: 17,099,974 (GRCm39) |
M1826K |
probably benign |
Het |
Qki |
T |
A |
17: 10,457,892 (GRCm39) |
D159V |
probably damaging |
Het |
Rab12 |
A |
T |
17: 66,807,312 (GRCm39) |
I139N |
probably damaging |
Het |
Rab25 |
T |
A |
3: 88,455,362 (GRCm39) |
E7D |
probably benign |
Het |
Rala |
A |
T |
13: 18,063,174 (GRCm39) |
V139E |
probably benign |
Het |
Ralgapa2 |
A |
G |
2: 146,230,407 (GRCm39) |
|
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,800,804 (GRCm39) |
Y89N |
probably damaging |
Het |
Rho |
A |
T |
6: 115,909,188 (GRCm39) |
I75F |
probably damaging |
Het |
Slc38a4 |
C |
A |
15: 96,906,830 (GRCm39) |
A303S |
probably benign |
Het |
Slc6a15 |
A |
G |
10: 103,245,670 (GRCm39) |
D551G |
probably null |
Het |
Smyd3 |
T |
C |
1: 178,871,437 (GRCm39) |
N314S |
probably benign |
Het |
Speer4f1 |
T |
A |
5: 17,684,512 (GRCm39) |
L180* |
probably null |
Het |
Stat6 |
T |
C |
10: 127,493,096 (GRCm39) |
V576A |
probably damaging |
Het |
Strn |
T |
C |
17: 78,984,803 (GRCm39) |
D127G |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 4,983,096 (GRCm39) |
R8610G |
probably benign |
Het |
Tbc1d7 |
A |
C |
13: 43,306,678 (GRCm39) |
|
probably null |
Het |
Tcf3 |
C |
T |
10: 80,248,831 (GRCm39) |
R548Q |
probably damaging |
Het |
Tlr9 |
C |
A |
9: 106,103,286 (GRCm39) |
A859D |
probably benign |
Het |
Tmem106c |
T |
A |
15: 97,866,020 (GRCm39) |
|
probably benign |
Het |
Tmprss11c |
A |
T |
5: 86,379,786 (GRCm39) |
|
probably benign |
Het |
Tnfsf18 |
A |
G |
1: 161,322,300 (GRCm39) |
R7G |
probably benign |
Het |
Tnrc6b |
T |
A |
15: 80,742,871 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
T |
2: 126,639,433 (GRCm39) |
F1684I |
probably damaging |
Het |
Ttbk1 |
C |
A |
17: 46,789,864 (GRCm39) |
R133L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,551,686 (GRCm39) |
S22962P |
probably damaging |
Het |
Ube2q1 |
T |
A |
3: 89,683,460 (GRCm39) |
L135Q |
probably damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vwce |
T |
C |
19: 10,637,337 (GRCm39) |
|
probably benign |
Het |
Wdhd1 |
A |
G |
14: 47,504,525 (GRCm39) |
S350P |
probably benign |
Het |
Zbtb21 |
A |
G |
16: 97,752,604 (GRCm39) |
S560P |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGACTCCCACTTTTCAGTCGATGG -3'
(R):5'- CAAGCTCACTCAGCCTGTGATACC -3'
Sequencing Primer
(F):5'- TTCAGTCGATGGTGTGACTC -3'
(R):5'- CCTCAGGGTTCAGATacacacac -3'
|
Posted On |
2013-04-16 |