Incidental Mutation 'R0648:Lpin2'
| ID |
57382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
038833-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
R0648 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71536307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 199
(S199P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126681]
[ENSMUST00000129635]
[ENSMUST00000135589]
[ENSMUST00000156570]
|
| AlphaFold |
Q99PI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126681
AA Change: S237P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: S237P
| 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: S199P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: S199P
| 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 |
probably benign
Transcript: ENSMUST00000135589
AA Change: I236T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052
AA Change: I236T
| 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 |
noncoding transcript
Transcript: ENSMUST00000142842
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156570
AA Change: S199P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
AA Change: S199P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Meta Mutation Damage Score |
0.0703 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (80/80) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,184,632 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Acta2 |
T |
C |
19: 34,225,934 (GRCm39) |
I87V |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,412,515 (GRCm39) |
Y1560H |
unknown |
Het |
| Bcor |
C |
T |
X: 11,925,290 (GRCm39) |
R102Q |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,232,057 (GRCm39) |
D179E |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,095,723 (GRCm39) |
S1792P |
possibly damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,283,426 (GRCm39) |
S46T |
probably damaging |
Het |
| Ccdc18 |
A |
C |
5: 108,322,853 (GRCm39) |
Q651P |
probably damaging |
Het |
| Cdc73 |
T |
C |
1: 143,571,200 (GRCm39) |
T80A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,993,337 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
G |
A |
3: 134,935,843 (GRCm39) |
G426D |
probably damaging |
Het |
| Cenpt |
A |
G |
8: 106,571,592 (GRCm39) |
V487A |
probably damaging |
Het |
| Clec2m |
A |
G |
6: 129,307,932 (GRCm39) |
F46L |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,296,892 (GRCm39) |
P84S |
unknown |
Het |
| Dennd2d |
A |
G |
3: 106,407,871 (GRCm39) |
I450M |
probably damaging |
Het |
| Dhps |
C |
A |
8: 85,799,911 (GRCm39) |
|
probably null |
Het |
| Ebf1 |
A |
T |
11: 44,882,337 (GRCm39) |
H431L |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,817,265 (GRCm39) |
|
probably benign |
Het |
| Egflam |
T |
C |
15: 7,237,190 (GRCm39) |
H990R |
probably damaging |
Het |
| Ercc6l2 |
A |
G |
13: 63,992,459 (GRCm39) |
T303A |
probably benign |
Het |
| Fam167b |
T |
C |
4: 129,472,150 (GRCm39) |
K7E |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,450,049 (GRCm39) |
I67V |
probably benign |
Het |
| Fhip1a |
A |
C |
3: 85,637,921 (GRCm39) |
V126G |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,636,744 (GRCm39) |
V2045D |
possibly damaging |
Het |
| Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
| Gpx6 |
A |
T |
13: 21,503,047 (GRCm39) |
N154Y |
probably benign |
Het |
| H2bc21 |
A |
G |
3: 96,128,851 (GRCm39) |
S124G |
probably benign |
Het |
| Haus8 |
C |
A |
8: 71,709,174 (GRCm39) |
G79V |
probably damaging |
Het |
| Hdgfl1 |
A |
T |
13: 26,953,836 (GRCm39) |
L79Q |
probably damaging |
Het |
| Impdh2 |
T |
C |
9: 108,440,665 (GRCm39) |
Y83H |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,865,372 (GRCm39) |
T2929A |
probably benign |
Het |
| Moap1 |
T |
C |
12: 102,708,776 (GRCm39) |
T258A |
probably benign |
Het |
| Mrps35 |
C |
A |
6: 146,957,443 (GRCm39) |
S156* |
probably null |
Het |
| Mrtfa |
A |
G |
15: 80,901,121 (GRCm39) |
S457P |
probably damaging |
Het |
| Mtbp |
C |
T |
15: 55,466,597 (GRCm39) |
P537S |
probably benign |
Het |
| Ncstn |
C |
A |
1: 171,895,454 (GRCm39) |
V565F |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,407,474 (GRCm39) |
N1536S |
possibly damaging |
Het |
| Nkain4 |
T |
C |
2: 180,584,905 (GRCm39) |
Q103R |
possibly damaging |
Het |
| Nsun2 |
T |
A |
13: 69,775,706 (GRCm39) |
N383K |
probably damaging |
Het |
| Or13p4 |
C |
T |
4: 118,547,269 (GRCm39) |
V127I |
probably benign |
Het |
| Or6c33 |
A |
G |
10: 129,853,350 (GRCm39) |
N40S |
probably damaging |
Het |
| Parp1 |
C |
T |
1: 180,428,005 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,813,911 (GRCm39) |
R4125H |
probably damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,970,962 (GRCm39) |
I269V |
possibly damaging |
Het |
| Polr1f |
C |
T |
12: 33,487,999 (GRCm39) |
Q305* |
probably null |
Het |
| Ppp1r36dn |
A |
G |
12: 76,498,070 (GRCm39) |
|
noncoding transcript |
Het |
| Qrich1 |
T |
A |
9: 108,422,076 (GRCm39) |
N563K |
probably damaging |
Het |
| Rab3il1 |
TGAAG |
TGAAGAAG |
19: 10,004,752 (GRCm39) |
|
probably benign |
Het |
| Rell1 |
G |
A |
5: 64,082,088 (GRCm39) |
T271M |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,412,016 (GRCm39) |
|
probably null |
Het |
| Rph3a |
C |
T |
5: 121,097,333 (GRCm39) |
R261H |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,739,219 (GRCm39) |
M2161K |
possibly damaging |
Het |
| Scaf11 |
T |
C |
15: 96,316,339 (GRCm39) |
N1075S |
possibly damaging |
Het |
| Serpina3j |
A |
G |
12: 104,280,938 (GRCm39) |
D37G |
probably benign |
Het |
| Siah2 |
A |
G |
3: 58,583,635 (GRCm39) |
V217A |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,810,045 (GRCm39) |
D506G |
probably benign |
Het |
| Skap2 |
A |
C |
6: 51,856,765 (GRCm39) |
V279G |
probably benign |
Het |
| Slc8a3 |
G |
T |
12: 81,361,220 (GRCm39) |
T533N |
probably damaging |
Het |
| Slc9a7 |
A |
T |
X: 20,028,659 (GRCm39) |
|
probably benign |
Het |
| Snai3 |
G |
T |
8: 123,181,733 (GRCm39) |
F241L |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,404,622 (GRCm39) |
S2805P |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,132,864 (GRCm39) |
|
probably benign |
Het |
| Tctn1 |
C |
T |
5: 122,389,761 (GRCm39) |
E254K |
probably benign |
Het |
| Tdrd3 |
C |
T |
14: 87,709,618 (GRCm39) |
T100M |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,215 (GRCm39) |
V132A |
probably benign |
Het |
| Thbs3 |
A |
G |
3: 89,123,972 (GRCm39) |
|
probably null |
Het |
| Tigit |
T |
A |
16: 43,482,401 (GRCm39) |
Y111F |
probably damaging |
Het |
| Tmem245 |
A |
G |
4: 56,906,270 (GRCm39) |
I148T |
probably benign |
Het |
| Tmem97 |
A |
G |
11: 78,441,365 (GRCm39) |
Y39H |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,839,474 (GRCm39) |
|
probably null |
Het |
| Trp53bp1 |
A |
G |
2: 121,066,188 (GRCm39) |
V846A |
probably benign |
Het |
| Tulp2 |
T |
G |
7: 45,169,210 (GRCm39) |
I259S |
probably damaging |
Het |
| Ubxn1 |
G |
A |
19: 8,851,612 (GRCm39) |
R215H |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,460 (GRCm39) |
F253L |
probably damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,782 (GRCm39) |
M723V |
probably benign |
Het |
| Xndc1 |
T |
C |
7: 101,728,031 (GRCm39) |
V14A |
possibly damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,986,294 (GRCm39) |
|
probably benign |
Het |
| Yes1 |
T |
A |
5: 32,812,862 (GRCm39) |
M322K |
possibly damaging |
Het |
| Zdhhc14 |
C |
A |
17: 5,543,877 (GRCm39) |
N52K |
probably benign |
Het |
| Zfp42 |
A |
G |
8: 43,749,015 (GRCm39) |
V162A |
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 |
|
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'- GCTTCCATAGAAACCTCCTCGTGAC -3'
(R):5'- AAGCCACTGATAAGCGTCCCCTTC -3'
Sequencing Primer
(F):5'- CTCCTCGTGACTGAGAAGTAGAC -3'
(R):5'- GTCCCCTTCCCCTTAGGAAAAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation