Incidental Mutation 'R5457:Lpin2'
| ID |
432852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
043020-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
R5457 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71550367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 672
(T672A)
|
| 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: T710A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: T710A
| 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: T672A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: T672A
| 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 |
noncoding transcript
Transcript: ENSMUST00000140150
|
| 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: ENSMUST00000180743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156565
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
C |
A |
8: 87,236,473 (GRCm39) |
V1114L |
probably benign |
Het |
| Actr5 |
G |
A |
2: 158,477,918 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
T |
C |
8: 89,037,649 (GRCm39) |
L239P |
probably damaging |
Het |
| Afg3l1 |
T |
A |
8: 124,216,707 (GRCm39) |
F315L |
possibly damaging |
Het |
| Agps |
A |
G |
2: 75,684,596 (GRCm39) |
Y188C |
probably benign |
Het |
| Akt1 |
T |
C |
12: 112,623,525 (GRCm39) |
T312A |
probably damaging |
Het |
| Ang2 |
T |
C |
14: 51,433,292 (GRCm39) |
Y30C |
probably damaging |
Het |
| Angpt1 |
G |
A |
15: 42,386,916 (GRCm39) |
T146I |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,702,813 (GRCm39) |
S288P |
probably damaging |
Het |
| Atp1b2 |
C |
T |
11: 69,493,558 (GRCm39) |
G4R |
probably damaging |
Het |
| Best3 |
T |
C |
10: 116,840,416 (GRCm39) |
F282S |
probably damaging |
Het |
| Cdkn2b |
A |
G |
4: 89,225,391 (GRCm39) |
L98P |
probably damaging |
Het |
| Cenps |
A |
G |
4: 149,216,094 (GRCm39) |
|
probably null |
Het |
| Clec16a |
G |
T |
16: 10,363,396 (GRCm39) |
|
probably null |
Het |
| Cxcl13 |
A |
T |
5: 96,104,830 (GRCm39) |
M1L |
unknown |
Het |
| Dcun1d4 |
A |
T |
5: 73,688,908 (GRCm39) |
E149D |
probably damaging |
Het |
| Dlst |
G |
A |
12: 85,168,914 (GRCm39) |
|
probably null |
Het |
| Dock10 |
C |
A |
1: 80,501,781 (GRCm39) |
C1803F |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,339,539 (GRCm39) |
K329N |
possibly damaging |
Het |
| Drosha |
T |
G |
15: 12,926,115 (GRCm39) |
Y1235D |
probably benign |
Het |
| Eif2s3y |
G |
A |
Y: 1,016,057 (GRCm39) |
G213D |
probably damaging |
Homo |
| Eps8 |
A |
T |
6: 137,489,175 (GRCm39) |
S408T |
probably damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,328,362 (GRCm39) |
D799G |
possibly damaging |
Het |
| Fcho2 |
T |
C |
13: 98,926,275 (GRCm39) |
K103E |
probably damaging |
Het |
| Fcrlb |
T |
C |
1: 170,739,726 (GRCm39) |
T59A |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,279,873 (GRCm39) |
R395G |
probably benign |
Het |
| Gm14496 |
A |
T |
2: 181,639,401 (GRCm39) |
D497V |
probably damaging |
Het |
| Gpt2 |
A |
C |
8: 86,238,967 (GRCm39) |
N267H |
possibly damaging |
Het |
| Grb14 |
A |
T |
2: 64,747,442 (GRCm39) |
C43S |
probably damaging |
Het |
| Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
| Igkv8-16 |
A |
G |
6: 70,363,689 (GRCm39) |
V111A |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,198,852 (GRCm39) |
S230C |
possibly damaging |
Het |
| Lamb3 |
G |
A |
1: 193,008,302 (GRCm39) |
R245H |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,821,997 (GRCm39) |
E1315G |
probably benign |
Het |
| Mcoln3 |
T |
A |
3: 145,833,877 (GRCm39) |
I139N |
probably benign |
Het |
| Mcpt8 |
C |
T |
14: 56,319,793 (GRCm39) |
C219Y |
probably benign |
Het |
| Mtcl3 |
A |
C |
10: 29,072,720 (GRCm39) |
I671L |
probably benign |
Het |
| Mug2 |
G |
T |
6: 122,026,688 (GRCm39) |
G541* |
probably null |
Het |
| Myo7b |
G |
T |
18: 32,104,503 (GRCm39) |
|
probably null |
Het |
| Or10j2 |
C |
T |
1: 173,098,141 (GRCm39) |
S133L |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,180 (GRCm39) |
S274P |
probably damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,135,213 (GRCm39) |
I186V |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,796 (GRCm39) |
I92N |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,574 (GRCm39) |
Y146F |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,726,157 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
C |
T |
11: 94,919,408 (GRCm39) |
S289N |
probably damaging |
Het |
| Pex19 |
G |
T |
1: 171,958,245 (GRCm39) |
G75W |
probably damaging |
Het |
| Psma3 |
T |
G |
12: 71,031,339 (GRCm39) |
S26A |
probably benign |
Het |
| Pth1r |
A |
T |
9: 110,555,522 (GRCm39) |
I326N |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,912,037 (GRCm39) |
T1670A |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,523,193 (GRCm39) |
Y67H |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,330,280 (GRCm39) |
D578E |
probably benign |
Het |
| Spta1 |
C |
T |
1: 174,044,759 (GRCm39) |
A1465V |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,003 (GRCm39) |
F144L |
probably damaging |
Het |
| Tal1 |
T |
C |
4: 114,925,777 (GRCm39) |
V282A |
probably benign |
Het |
| Tbrg4 |
C |
T |
11: 6,570,947 (GRCm39) |
R175Q |
probably damaging |
Het |
| Tdp1 |
C |
T |
12: 99,861,005 (GRCm39) |
Q215* |
probably null |
Het |
| Thsd4 |
A |
T |
9: 59,887,060 (GRCm39) |
W921R |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,786,787 (GRCm39) |
E3462G |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,280,355 (GRCm39) |
S60P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,541,265 (GRCm39) |
E25580G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,776,299 (GRCm39) |
I1581N |
possibly damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,781,873 (GRCm39) |
T291A |
probably damaging |
Het |
| Zkscan14 |
T |
C |
5: 145,138,169 (GRCm39) |
D106G |
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 |
|
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 |
|
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'- ACTACATGCTGGCACCAGAG -3'
(R):5'- TGTACTGCACACACGTCCTC -3'
Sequencing Primer
(F):5'- TGCTGGCACCAGAGAAACC -3'
(R):5'- AGCCATGGAGTGACTTCCCTTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation