Incidental Mutation 'R7067:Lpin2'
| ID |
548657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
045163-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R7067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 71551853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 789
(K789T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126681]
[ENSMUST00000129635]
|
| AlphaFold |
Q99PI5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126681
AA Change: K789T
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: K789T
| 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: K751T
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: K751T
| 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: ENSMUST00000154507
|
| SMART Domains |
Protein: ENSMUSP00000127035
Gene: ENSMUSG00000024052
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_mid
|
1 |
55 |
2.3e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,852,921 (GRCm39) |
S72C |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,241,845 (GRCm39) |
D1236G |
probably benign |
Het |
| Abcc6 |
T |
C |
7: 45,668,114 (GRCm39) |
N165D |
probably benign |
Het |
| Aebp1 |
A |
G |
11: 5,816,431 (GRCm39) |
|
probably null |
Het |
| Afg2a |
C |
T |
3: 37,485,847 (GRCm39) |
Q190* |
probably null |
Het |
| Anapc4 |
A |
G |
5: 53,019,577 (GRCm39) |
T580A |
probably benign |
Het |
| Apob |
T |
C |
12: 8,059,423 (GRCm39) |
I2602T |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,811,387 (GRCm39) |
|
probably null |
Het |
| Asap3 |
T |
A |
4: 135,968,673 (GRCm39) |
|
probably null |
Het |
| Bend4 |
A |
G |
5: 67,557,611 (GRCm39) |
Y402H |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,472,873 (GRCm39) |
Y261C |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,167,489 (GRCm39) |
N271S |
probably benign |
Het |
| Csf2rb2 |
A |
T |
15: 78,176,694 (GRCm39) |
W233R |
probably damaging |
Het |
| Cyp2u1 |
G |
A |
3: 131,087,202 (GRCm39) |
L460F |
probably damaging |
Het |
| Dnm3 |
A |
G |
1: 162,148,540 (GRCm39) |
L277P |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,817,926 (GRCm39) |
N135I |
probably damaging |
Het |
| Elapor2 |
G |
T |
5: 9,316,295 (GRCm39) |
A9S |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,078 (GRCm39) |
S2466T |
possibly damaging |
Het |
| Gal3st2 |
C |
T |
1: 93,802,447 (GRCm39) |
A276V |
possibly damaging |
Het |
| Gm47985 |
A |
T |
1: 151,059,241 (GRCm39) |
D294V |
unknown |
Het |
| Golga1 |
A |
T |
2: 38,937,731 (GRCm39) |
D104E |
probably benign |
Het |
| Hnrnpr |
C |
T |
4: 136,054,704 (GRCm39) |
A219V |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,399,888 (GRCm39) |
|
probably null |
Het |
| Hspa8 |
T |
C |
9: 40,715,921 (GRCm39) |
I562T |
probably damaging |
Het |
| Htra4 |
C |
T |
8: 25,523,717 (GRCm39) |
V283M |
probably damaging |
Het |
| Il36rn |
C |
T |
2: 24,167,541 (GRCm39) |
R11* |
probably null |
Het |
| Iqcd |
A |
G |
5: 120,743,212 (GRCm39) |
T325A |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,832,271 (GRCm39) |
M624K |
probably benign |
Het |
| Krt25 |
G |
T |
11: 99,208,209 (GRCm39) |
Q340K |
probably benign |
Het |
| Lamp3 |
T |
A |
16: 19,518,413 (GRCm39) |
N275Y |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,929,986 (GRCm39) |
I24T |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,569,547 (GRCm39) |
I991F |
unknown |
Het |
| Ntf5 |
T |
A |
7: 45,065,048 (GRCm39) |
L60Q |
probably damaging |
Het |
| Nuak1 |
A |
G |
10: 84,276,158 (GRCm39) |
S22P |
possibly damaging |
Het |
| Obox8 |
T |
C |
7: 14,066,979 (GRCm39) |
T22A |
possibly damaging |
Het |
| Or8k21 |
T |
A |
2: 86,144,911 (GRCm39) |
T240S |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,967,074 (GRCm39) |
V405A |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,640,934 (GRCm39) |
S147P |
probably benign |
Het |
| Pole |
G |
T |
5: 110,482,084 (GRCm39) |
G142V |
probably damaging |
Het |
| Poli |
G |
A |
18: 70,642,488 (GRCm39) |
Q508* |
probably null |
Het |
| Repin1 |
T |
A |
6: 48,574,850 (GRCm39) |
L537* |
probably null |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,071,529 (GRCm39) |
|
probably null |
Het |
| Slit3 |
A |
G |
11: 35,399,057 (GRCm39) |
S141G |
probably benign |
Het |
| Spon2 |
A |
G |
5: 33,371,958 (GRCm39) |
S283P |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,734,266 (GRCm39) |
|
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,694,019 (GRCm39) |
D89G |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,184,586 (GRCm39) |
I4099T |
probably damaging |
Het |
| Syt5 |
T |
C |
7: 4,546,075 (GRCm39) |
D105G |
probably benign |
Het |
| Tlx3 |
C |
T |
11: 33,153,204 (GRCm39) |
G86S |
probably damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,775 (GRCm39) |
|
probably null |
Het |
| Umodl1 |
G |
A |
17: 31,201,246 (GRCm39) |
V392I |
probably damaging |
Het |
| Unc80 |
C |
A |
1: 66,685,731 (GRCm39) |
T2285K |
possibly damaging |
Het |
| Vars1 |
G |
A |
17: 35,230,455 (GRCm39) |
V513I |
probably damaging |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,849 (GRCm39) |
Q146L |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,414,302 (GRCm39) |
I714V |
probably benign |
Het |
| Xbp1 |
T |
A |
11: 5,474,275 (GRCm39) |
S159T |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,851,565 (GRCm39) |
H194Q |
probably damaging |
Het |
| Zc3h4 |
A |
T |
7: 16,162,976 (GRCm39) |
K459* |
probably null |
Het |
| Zdhhc6 |
G |
A |
19: 55,292,871 (GRCm39) |
R292* |
probably null |
Het |
| Zfp383 |
T |
A |
7: 29,608,071 (GRCm39) |
M1K |
probably null |
Het |
| Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
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 |
|
|
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 |
|
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'- AACTGGGTTTCTTCTAAGTTCAGG -3'
(R):5'- GAAAGATTTCATGCTCACAGCTACC -3'
Sequencing Primer
(F):5'- GGAGAAGAACTTGATTTGGATCTG -3'
(R):5'- CCTATTTTATTAATCTCTGGGCACTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation