Incidental Mutation 'R1564:Lpin2'
| ID |
175157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
039603-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
R1564 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71532055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 137
(V137I)
|
| 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: V175I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: V175I
| 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: V137I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: V137I
| 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
AA Change: V175I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052
AA Change: V175I
| 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 benign
Transcript: ENSMUST00000156570
AA Change: V137I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
AA Change: V137I
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.0%
|
| Validation Efficiency |
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,384,316 (GRCm39) |
Q3923* |
probably null |
Het |
| Abcc12 |
T |
A |
8: 87,244,115 (GRCm39) |
T1013S |
probably benign |
Het |
| Acad9 |
T |
C |
3: 36,143,578 (GRCm39) |
I558T |
possibly damaging |
Het |
| Agbl4 |
C |
A |
4: 110,812,761 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
T |
6: 34,283,470 (GRCm39) |
|
probably null |
Het |
| Aktip |
A |
G |
8: 91,857,709 (GRCm39) |
M1T |
probably null |
Het |
| Apc |
G |
T |
18: 34,448,202 (GRCm39) |
Q1665H |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,467,452 (GRCm39) |
D1916G |
probably damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,609,817 (GRCm39) |
V365A |
probably benign |
Het |
| Bank1 |
C |
A |
3: 135,919,602 (GRCm39) |
E265* |
probably null |
Het |
| Bbs7 |
A |
T |
3: 36,629,944 (GRCm39) |
D578E |
probably damaging |
Het |
| Bin3 |
T |
C |
14: 70,372,218 (GRCm39) |
F172L |
probably damaging |
Het |
| Bves |
A |
G |
10: 45,245,377 (GRCm39) |
D350G |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,596,835 (GRCm39) |
C80* |
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,218,156 (GRCm39) |
F164L |
possibly damaging |
Het |
| Cenpj |
T |
C |
14: 56,789,523 (GRCm39) |
D842G |
probably benign |
Het |
| Col12a1 |
C |
A |
9: 79,521,122 (GRCm39) |
R2781L |
probably damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,724,024 (GRCm39) |
C213* |
probably null |
Het |
| Defb33 |
T |
A |
8: 21,387,597 (GRCm39) |
C45S |
possibly damaging |
Het |
| Dolk |
A |
T |
2: 30,175,633 (GRCm39) |
N137K |
probably damaging |
Het |
| Fam171b |
G |
A |
2: 83,710,628 (GRCm39) |
E767K |
probably damaging |
Het |
| Fbxl20 |
A |
T |
11: 97,989,312 (GRCm39) |
D189E |
probably damaging |
Het |
| Gm10643 |
A |
T |
8: 84,791,111 (GRCm39) |
M1K |
probably null |
Het |
| Gm572 |
T |
G |
4: 148,735,643 (GRCm39) |
I24S |
possibly damaging |
Het |
| Gnpda1 |
A |
G |
18: 38,471,142 (GRCm39) |
|
probably null |
Het |
| Gpr141b |
T |
C |
13: 19,913,470 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
G |
T |
2: 180,875,021 (GRCm39) |
N1824K |
probably benign |
Het |
| Insl3 |
G |
T |
8: 72,142,935 (GRCm39) |
A99S |
possibly damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,533,827 (GRCm39) |
E1032G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,353,150 (GRCm39) |
T1510A |
probably benign |
Het |
| Mnd1 |
T |
C |
3: 84,023,738 (GRCm39) |
E116G |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,407,287 (GRCm39) |
|
probably null |
Het |
| Myoz3 |
G |
A |
18: 60,713,914 (GRCm39) |
S23L |
probably benign |
Het |
| Napsa |
G |
T |
7: 44,236,073 (GRCm39) |
V371F |
probably damaging |
Het |
| Nefh |
T |
C |
11: 4,889,878 (GRCm39) |
T914A |
unknown |
Het |
| Neurod2 |
A |
T |
11: 98,218,250 (GRCm39) |
C305S |
probably damaging |
Het |
| Nmnat3 |
T |
C |
9: 98,236,219 (GRCm39) |
|
probably null |
Het |
| Nuf2 |
A |
G |
1: 169,326,362 (GRCm39) |
V463A |
unknown |
Het |
| Olfml1 |
A |
T |
7: 107,170,346 (GRCm39) |
T78S |
possibly damaging |
Het |
| Opcml |
G |
A |
9: 28,814,612 (GRCm39) |
C288Y |
probably damaging |
Het |
| Oprl1 |
T |
C |
2: 181,360,733 (GRCm39) |
I222T |
possibly damaging |
Het |
| Or13a28 |
G |
A |
7: 140,217,967 (GRCm39) |
V118I |
probably benign |
Het |
| Or4c104 |
A |
T |
2: 88,587,000 (GRCm39) |
N6K |
possibly damaging |
Het |
| Or4c122 |
G |
T |
2: 89,080,016 (GRCm39) |
N7K |
probably benign |
Het |
| Or6c210 |
T |
C |
10: 129,495,884 (GRCm39) |
F70L |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,632,120 (GRCm39) |
Y349H |
probably damaging |
Het |
| Pla2g4d |
C |
A |
2: 120,099,384 (GRCm39) |
R706L |
possibly damaging |
Het |
| Pmm1 |
A |
G |
15: 81,840,401 (GRCm39) |
Y55H |
probably damaging |
Het |
| Polb |
A |
G |
8: 23,120,357 (GRCm39) |
|
probably null |
Het |
| Pom121l2 |
T |
C |
13: 22,167,523 (GRCm39) |
I598T |
possibly damaging |
Het |
| Pxmp2 |
C |
T |
5: 110,429,062 (GRCm39) |
|
probably null |
Het |
| Rbm39 |
G |
T |
2: 155,996,177 (GRCm39) |
L403I |
probably benign |
Het |
| Rec8 |
T |
C |
14: 55,859,732 (GRCm39) |
|
probably null |
Het |
| Reck |
T |
C |
4: 43,912,061 (GRCm39) |
I190T |
probably benign |
Het |
| Rer1 |
A |
T |
4: 155,160,050 (GRCm39) |
I166N |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,792,567 (GRCm39) |
K60* |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,859,768 (GRCm39) |
T152M |
probably damaging |
Het |
| Scgb1b2 |
A |
T |
7: 30,991,200 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
C |
A |
2: 65,344,979 (GRCm39) |
R503M |
probably damaging |
Het |
| Scn4a |
C |
A |
11: 106,236,367 (GRCm39) |
D298Y |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,648 (GRCm39) |
F1679S |
probably damaging |
Het |
| Scyl3 |
G |
T |
1: 163,767,553 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
A |
G |
7: 128,368,005 (GRCm39) |
|
probably null |
Het |
| She |
C |
T |
3: 89,756,921 (GRCm39) |
A325V |
possibly damaging |
Het |
| Skint2 |
T |
G |
4: 112,483,195 (GRCm39) |
M200R |
probably damaging |
Het |
| Slc17a5 |
A |
T |
9: 78,485,981 (GRCm39) |
C35S |
probably damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,070,819 (GRCm39) |
S393T |
probably damaging |
Het |
| Slc6a19 |
C |
T |
13: 73,834,243 (GRCm39) |
V320M |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,674,249 (GRCm39) |
D579G |
possibly damaging |
Het |
| Spats2l |
C |
T |
1: 57,985,383 (GRCm39) |
R479C |
probably damaging |
Het |
| Syngr3 |
G |
C |
17: 24,905,642 (GRCm39) |
|
probably null |
Het |
| Tas2r107 |
A |
C |
6: 131,636,785 (GRCm39) |
I88R |
probably damaging |
Het |
| Them7 |
A |
T |
2: 105,128,259 (GRCm39) |
N80I |
probably damaging |
Het |
| Tmprss7 |
C |
T |
16: 45,482,516 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
A |
G |
15: 80,764,369 (GRCm39) |
N624D |
possibly damaging |
Het |
| Trpm2 |
T |
G |
10: 77,778,833 (GRCm39) |
I378L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,554,876 (GRCm39) |
W30676L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,774,384 (GRCm39) |
V2220A |
unknown |
Het |
| Uba6 |
T |
C |
5: 86,302,266 (GRCm39) |
T134A |
probably benign |
Het |
| Vmn2r55 |
A |
G |
7: 12,418,678 (GRCm39) |
S81P |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,975,548 (GRCm39) |
S606T |
probably damaging |
Het |
| Zfp653 |
C |
A |
9: 21,967,155 (GRCm39) |
A577S |
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 |
|
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 |
|
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'- TCCTACCCCTATAAAAAGGTGTG -3'
(R):5'- CATTTAGTAGCATAGCCGAAGGTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation