Incidental Mutation 'R0144:Lpin2'
| ID |
22541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
038429-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R0144 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71532071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 142
(E142G)
|
| 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: E180G
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: E180G
| 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: E142G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: E142G
| 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 damaging
Transcript: ENSMUST00000135589
AA Change: E180G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052
AA Change: E180G
| 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 |
noncoding transcript
Transcript: ENSMUST00000149973
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156570
AA Change: E142G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
AA Change: E142G
| 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 |
0.0998 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 87.0%
|
| Validation Efficiency |
100% (90/90) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
A |
12: 84,652,739 (GRCm39) |
|
probably null |
Het |
| Acp6 |
T |
A |
3: 97,073,145 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
A |
T |
17: 47,780,224 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,109,233 (GRCm39) |
I674V |
probably benign |
Het |
| Armc2 |
A |
T |
10: 41,823,883 (GRCm39) |
|
probably benign |
Het |
| Atp8b1 |
G |
C |
18: 64,704,445 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,737,839 (GRCm39) |
N1823K |
probably damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| Brca1 |
A |
T |
11: 101,416,947 (GRCm39) |
S396T |
probably damaging |
Het |
| Btnl6 |
G |
T |
17: 34,732,994 (GRCm39) |
R290S |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,643,797 (GRCm39) |
R957G |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,656,417 (GRCm39) |
L132P |
probably damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
| Ceacam15 |
G |
T |
7: 16,407,116 (GRCm39) |
H134N |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,620,161 (GRCm39) |
I46V |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,441,902 (GRCm39) |
D722G |
probably damaging |
Het |
| Col11a1 |
A |
T |
3: 113,907,243 (GRCm39) |
D628V |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,441,838 (GRCm39) |
V342E |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 38,016,652 (GRCm39) |
V64A |
probably damaging |
Het |
| Dlec1 |
G |
T |
9: 118,971,934 (GRCm39) |
G1345V |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 30,989,831 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
C |
T |
14: 68,023,735 (GRCm39) |
G1142D |
probably benign |
Het |
| Etv2 |
C |
A |
7: 30,334,308 (GRCm39) |
A142S |
probably benign |
Het |
| Fam110c |
C |
A |
12: 31,124,500 (GRCm39) |
T154K |
unknown |
Het |
| Fbxo17 |
C |
G |
7: 28,434,765 (GRCm39) |
D183E |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,170,964 (GRCm39) |
W681R |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,134,045 (GRCm39) |
Y413H |
probably damaging |
Het |
| Gab1 |
A |
G |
8: 81,511,830 (GRCm39) |
|
probably benign |
Het |
| Gabarapl1 |
T |
C |
6: 129,510,411 (GRCm39) |
M1T |
probably null |
Het |
| H2-M10.6 |
G |
A |
17: 37,123,133 (GRCm39) |
C22Y |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,889,751 (GRCm39) |
D2432G |
probably damaging |
Het |
| Il13 |
T |
C |
11: 53,524,003 (GRCm39) |
D60G |
possibly damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,401,668 (GRCm39) |
L479P |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,228,653 (GRCm39) |
Q1314L |
probably damaging |
Het |
| Jrk |
C |
T |
15: 74,578,005 (GRCm39) |
G427S |
probably benign |
Het |
| Kcnb1 |
T |
G |
2: 166,946,467 (GRCm39) |
N794H |
probably damaging |
Het |
| Klhl8 |
A |
T |
5: 104,015,804 (GRCm39) |
S361R |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,336,542 (GRCm39) |
Y37C |
probably benign |
Het |
| Lbp |
A |
T |
2: 158,161,630 (GRCm39) |
S231C |
probably damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,805 (GRCm39) |
|
probably null |
Het |
| Lypd11 |
A |
G |
7: 24,423,015 (GRCm39) |
V101A |
possibly damaging |
Het |
| Manea |
A |
G |
4: 26,340,719 (GRCm39) |
M81T |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,316,849 (GRCm39) |
T618A |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,389,080 (GRCm39) |
D128G |
probably damaging |
Het |
| Mix23 |
A |
T |
16: 35,905,484 (GRCm39) |
N92I |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,047,970 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
A |
T |
8: 71,798,687 (GRCm39) |
Q901L |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,608,948 (GRCm39) |
R640G |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,647,251 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,283,421 (GRCm39) |
N422S |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,953 (GRCm39) |
Y88N |
probably damaging |
Het |
| Nrxn3 |
G |
A |
12: 89,315,162 (GRCm39) |
A358T |
probably damaging |
Het |
| Or52s1 |
A |
T |
7: 102,861,747 (GRCm39) |
I216F |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5p62 |
T |
C |
7: 107,771,178 (GRCm39) |
I258V |
probably benign |
Het |
| Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
| Pld5 |
T |
C |
1: 175,798,107 (GRCm39) |
N431D |
probably benign |
Het |
| Prss28 |
G |
A |
17: 25,528,424 (GRCm39) |
V16M |
probably damaging |
Het |
| Psmd2 |
T |
A |
16: 20,480,975 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
A |
T |
12: 98,654,868 (GRCm39) |
S700T |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,474,072 (GRCm39) |
V152D |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,153,447 (GRCm39) |
R2286S |
probably damaging |
Het |
| Rflnb |
G |
T |
11: 75,915,789 (GRCm39) |
P102Q |
probably damaging |
Het |
| Rin2 |
G |
A |
2: 145,718,559 (GRCm39) |
V680I |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,370,426 (GRCm39) |
K4742* |
probably null |
Het |
| Rpp40 |
A |
T |
13: 36,085,352 (GRCm39) |
S143T |
probably benign |
Het |
| Rps12 |
A |
G |
10: 23,662,689 (GRCm39) |
I51T |
probably benign |
Het |
| Rsf1 |
T |
A |
7: 97,285,614 (GRCm39) |
W109R |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,176,615 (GRCm39) |
|
probably null |
Het |
| Tspan5 |
G |
T |
3: 138,604,109 (GRCm39) |
V165L |
probably damaging |
Het |
| Uts2r |
T |
A |
11: 121,052,291 (GRCm39) |
V385E |
probably benign |
Het |
| Vma21-ps |
T |
A |
4: 52,497,231 (GRCm39) |
D5V |
possibly damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,440 (GRCm39) |
N132I |
probably damaging |
Het |
| Zfp622 |
T |
C |
15: 25,991,665 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,655,671 (GRCm39) |
K766R |
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 |
|
|
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 |
|
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'- AGCACTTGACGTTCTGCCCTTAG -3'
(R):5'- TGGAAGGCTCATCCCAAGCCAATC -3'
Sequencing Primer
(F):5'- CTCAAAGAGCATCCAGTTTGTC -3'
(R):5'- CATTTAGTAGCATAGCCGAAGGTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation