Incidental Mutation 'R1846:Lpin2'
ID |
207764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpin2
|
Ensembl Gene |
ENSMUSG00000024052 |
Gene Name |
lipin 2 |
Synonyms |
2610511G02Rik |
MMRRC Submission |
039871-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.473)
|
Stock # |
R1846 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71532064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 140
(T140A)
|
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: T178A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118610 Gene: ENSMUSG00000024052 AA Change: T178A
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: T140A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119282 Gene: ENSMUSG00000024052 AA Change: T140A
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: T178A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000115061 Gene: ENSMUSG00000024052 AA Change: T178A
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: T140A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000120634 Gene: ENSMUSG00000024052 AA Change: T140A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
Validation Efficiency |
99% (75/76) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
G |
A |
7: 12,246,809 (GRCm39) |
R63Q |
probably benign |
Het |
Adamts20 |
A |
T |
15: 94,243,871 (GRCm39) |
C619S |
probably damaging |
Het |
Alx1 |
T |
C |
10: 102,861,165 (GRCm39) |
D121G |
possibly damaging |
Het |
Anks3 |
A |
C |
16: 4,771,748 (GRCm39) |
M215R |
probably benign |
Het |
Anxa4 |
T |
A |
6: 86,718,893 (GRCm39) |
|
probably null |
Het |
Arhgef25 |
A |
G |
10: 127,021,733 (GRCm39) |
V222A |
probably damaging |
Het |
Bglap2 |
A |
G |
3: 88,285,932 (GRCm39) |
|
probably benign |
Het |
Cars2 |
A |
G |
8: 11,564,674 (GRCm39) |
V22A |
probably benign |
Het |
Ccdc198 |
G |
T |
14: 49,473,420 (GRCm39) |
L102I |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,945,606 (GRCm39) |
I1040N |
probably damaging |
Het |
Cep170 |
C |
T |
1: 176,583,335 (GRCm39) |
D1015N |
probably damaging |
Het |
Chia1 |
T |
A |
3: 106,038,181 (GRCm39) |
I359N |
probably damaging |
Het |
Crot |
A |
T |
5: 9,038,248 (GRCm39) |
V93E |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dnmbp |
T |
C |
19: 43,891,186 (GRCm39) |
I194V |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,783,267 (GRCm39) |
C734S |
probably benign |
Het |
Eif4e3 |
T |
C |
6: 99,617,662 (GRCm39) |
S70G |
probably benign |
Het |
Entpd3 |
G |
A |
9: 120,387,441 (GRCm39) |
D213N |
probably benign |
Het |
Ern2 |
T |
G |
7: 121,775,759 (GRCm39) |
Y445S |
probably benign |
Het |
Fasn |
A |
G |
11: 120,704,133 (GRCm39) |
S1429P |
probably benign |
Het |
Fat4 |
A |
G |
3: 39,036,532 (GRCm39) |
I3395V |
probably benign |
Het |
Fbln2 |
C |
A |
6: 91,233,399 (GRCm39) |
Q628K |
possibly damaging |
Het |
Fbxo28 |
T |
C |
1: 182,153,845 (GRCm39) |
N164D |
probably benign |
Het |
Fez1 |
T |
C |
9: 36,779,063 (GRCm39) |
S247P |
probably damaging |
Het |
Gars1 |
A |
G |
6: 55,040,153 (GRCm39) |
D360G |
probably benign |
Het |
Gcfc2 |
A |
T |
6: 81,933,873 (GRCm39) |
Q710L |
probably damaging |
Het |
Ggt5 |
A |
G |
10: 75,446,376 (GRCm39) |
|
probably null |
Het |
Glp1r |
A |
G |
17: 31,148,909 (GRCm39) |
|
probably null |
Het |
Hspa14 |
T |
C |
2: 3,492,697 (GRCm39) |
D356G |
possibly damaging |
Het |
Htt |
T |
A |
5: 35,006,288 (GRCm39) |
I1399N |
probably damaging |
Het |
Kmt2e |
G |
A |
5: 23,704,484 (GRCm39) |
|
probably benign |
Het |
Krt36 |
C |
A |
11: 99,996,374 (GRCm39) |
G17C |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,088,092 (GRCm39) |
E895G |
probably damaging |
Het |
Lamb2 |
G |
A |
9: 108,364,586 (GRCm39) |
R1142H |
probably benign |
Het |
Lhcgr |
C |
T |
17: 89,072,575 (GRCm39) |
|
probably null |
Het |
Metap1 |
A |
G |
3: 138,186,443 (GRCm39) |
|
probably benign |
Het |
Mpeg1 |
T |
C |
19: 12,440,486 (GRCm39) |
V648A |
probably benign |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,752,369 (GRCm38) |
I749N |
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,965,862 (GRCm39) |
F1304L |
probably damaging |
Het |
Nup85 |
A |
G |
11: 115,459,239 (GRCm39) |
E114G |
probably benign |
Het |
Or2a5 |
A |
G |
6: 42,874,254 (GRCm39) |
S290G |
probably damaging |
Het |
Or4c10 |
A |
G |
2: 89,761,010 (GRCm39) |
T286A |
possibly damaging |
Het |
Or6b2b |
A |
T |
1: 92,418,822 (GRCm39) |
Y218* |
probably null |
Het |
Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
Parp2 |
T |
A |
14: 51,052,843 (GRCm39) |
C145* |
probably null |
Het |
Plpp6 |
T |
C |
19: 28,941,680 (GRCm39) |
S94P |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,953,172 (GRCm39) |
I1580T |
probably damaging |
Het |
Polrmt |
A |
T |
10: 79,574,043 (GRCm39) |
V860E |
probably damaging |
Het |
Ppp1r17 |
A |
G |
6: 55,999,412 (GRCm39) |
E15G |
possibly damaging |
Het |
Prl7b1 |
A |
T |
13: 27,786,831 (GRCm39) |
W133R |
probably damaging |
Het |
Ptk7 |
A |
G |
17: 46,887,416 (GRCm39) |
|
probably null |
Het |
Rad23b |
C |
T |
4: 55,383,637 (GRCm39) |
Q290* |
probably null |
Het |
Rorb |
C |
T |
19: 18,932,445 (GRCm39) |
E369K |
probably damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,452 (GRCm39) |
D110G |
probably damaging |
Het |
Smg7 |
A |
G |
1: 152,724,601 (GRCm39) |
S527P |
probably damaging |
Het |
Ssbp2 |
C |
T |
13: 91,812,268 (GRCm39) |
P105L |
probably damaging |
Het |
Stt3a |
C |
T |
9: 36,674,681 (GRCm39) |
R34H |
probably damaging |
Het |
Sufu |
T |
A |
19: 46,439,386 (GRCm39) |
I202N |
possibly damaging |
Het |
Thsd7b |
G |
A |
1: 129,540,993 (GRCm39) |
R289Q |
probably damaging |
Het |
Tph1 |
A |
T |
7: 46,309,863 (GRCm39) |
S130T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,776,030 (GRCm39) |
S1671P |
probably damaging |
Het |
Usp4 |
A |
G |
9: 108,249,935 (GRCm39) |
I441V |
probably benign |
Het |
Vmn1r8 |
A |
G |
6: 57,013,413 (GRCm39) |
N155D |
probably benign |
Het |
Vmn2r115 |
A |
C |
17: 23,578,357 (GRCm39) |
K610T |
probably damaging |
Het |
Vmn2r62 |
G |
A |
7: 42,438,546 (GRCm39) |
P97S |
probably damaging |
Het |
Zbtb40 |
T |
C |
4: 136,735,150 (GRCm39) |
D297G |
probably benign |
Het |
Zfp174 |
C |
A |
16: 3,672,599 (GRCm39) |
Q383K |
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,724,592 (GRCm39) |
D2198E |
probably benign |
Het |
Zfp628 |
C |
T |
7: 4,923,866 (GRCm39) |
P696L |
possibly damaging |
Het |
Zgrf1 |
T |
A |
3: 127,409,112 (GRCm39) |
N1695K |
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 |
R1564:Lpin2
|
UTSW |
17 |
71,532,055 (GRCm39) |
missense |
probably benign |
0.01 |
R1570:Lpin2
|
UTSW |
17 |
71,552,176 (GRCm39) |
nonsense |
probably null |
|
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'- TGACGTTCTGCCCTTAGGAAC -3'
(R):5'- GAAGTCCTTACCTTGCTGCCTG -3'
Sequencing Primer
(F):5'- GGTGTGTACTCAAAGAGCATCC -3'
(R):5'- ACCTTGCTGCCTGGGCTC -3'
|
Posted On |
2014-06-23 |