Incidental Mutation 'R9184:Lpin2'
| ID |
697274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
068979-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R9184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 71540911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 454
(Y454*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126681]
[ENSMUST00000129635]
[ENSMUST00000135589]
[ENSMUST00000156570]
|
| AlphaFold |
Q99PI5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000126681
AA Change: Y454*
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: Y454*
| 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 null
Transcript: ENSMUST00000129635
AA Change: Y416*
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: Y416*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052
| 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 |
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 |
probably benign
Transcript: ENSMUST00000156570
|
| SMART Domains |
Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
T |
C |
8: 107,233,901 (GRCm39) |
V199A |
unknown |
Het |
| Abca7 |
A |
G |
10: 79,838,690 (GRCm39) |
H621R |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,137,847 (GRCm39) |
N331I |
probably benign |
Het |
| Akt1 |
A |
G |
12: 112,621,152 (GRCm39) |
S475P |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,543,779 (GRCm39) |
V148A |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,291,887 (GRCm39) |
L21P |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,162,214 (GRCm39) |
L692S |
probably damaging |
Het |
| C1qtnf2 |
T |
C |
11: 43,365,180 (GRCm39) |
V25A |
probably benign |
Het |
| Cald1 |
G |
T |
6: 34,730,512 (GRCm39) |
E244D |
unknown |
Het |
| Cdc42bpa |
T |
A |
1: 179,972,301 (GRCm39) |
F1368I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,919,308 (GRCm39) |
C680Y |
probably null |
Het |
| Chd1 |
T |
A |
17: 15,962,551 (GRCm39) |
N769K |
possibly damaging |
Het |
| Clasp1 |
T |
A |
1: 118,470,908 (GRCm39) |
V848E |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
G |
T |
14: 63,375,544 (GRCm39) |
G170V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,340,552 (GRCm39) |
K2320E |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,036,592 (GRCm39) |
I3415F |
probably damaging |
Het |
| Fibcd1 |
A |
G |
2: 31,706,488 (GRCm39) |
S448P |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,805,542 (GRCm39) |
K71E |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,558,331 (GRCm39) |
V350I |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,368,311 (GRCm39) |
S1032T |
possibly damaging |
Het |
| Glis3 |
T |
C |
19: 28,509,007 (GRCm39) |
T326A |
probably damaging |
Het |
| Hspa9 |
C |
T |
18: 35,082,168 (GRCm39) |
R146H |
possibly damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kcnk15 |
G |
A |
2: 163,700,606 (GRCm39) |
V282M |
probably benign |
Het |
| Klk1b8 |
A |
G |
7: 43,602,158 (GRCm39) |
N30S |
probably benign |
Het |
| Mcam |
T |
C |
9: 44,046,545 (GRCm39) |
|
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,596,182 (GRCm39) |
L1047S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,767 (GRCm39) |
I81T |
possibly damaging |
Het |
| Neurod4 |
A |
T |
10: 130,106,958 (GRCm39) |
D105E |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,072,067 (GRCm39) |
L592P |
probably damaging |
Het |
| Nnt |
C |
A |
13: 119,518,270 (GRCm39) |
K302N |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,806,364 (GRCm39) |
F1767S |
probably damaging |
Het |
| Or4c103 |
C |
A |
2: 88,513,519 (GRCm39) |
A186S |
possibly damaging |
Het |
| Or4c58 |
T |
A |
2: 89,675,294 (GRCm39) |
I8F |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,727,138 (GRCm39) |
I151V |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,820,460 (GRCm39) |
I670F |
possibly damaging |
Het |
| Pdp1 |
T |
C |
4: 11,962,143 (GRCm39) |
E75G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,724,249 (GRCm39) |
N1275K |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,048,321 (GRCm39) |
Q134K |
probably benign |
Het |
| Poli |
T |
A |
18: 70,642,250 (GRCm39) |
H650L |
probably damaging |
Het |
| Prickle2 |
G |
A |
6: 92,388,505 (GRCm39) |
P355L |
possibly damaging |
Het |
| Prkaca |
G |
A |
8: 84,717,305 (GRCm39) |
G194D |
probably benign |
Het |
| Ptgs2 |
A |
T |
1: 149,980,175 (GRCm39) |
Y371F |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,818,882 (GRCm38) |
|
probably benign |
Het |
| Rarb |
C |
T |
14: 16,818,881 (GRCm38) |
|
probably benign |
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,269,393 (GRCm39) |
V42G |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,782,834 (GRCm39) |
I41F |
possibly damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,018,880 (GRCm39) |
D653V |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,506,630 (GRCm39) |
V602M |
possibly damaging |
Het |
| Slu7 |
T |
C |
11: 43,334,224 (GRCm39) |
S417P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,171 (GRCm39) |
D194E |
probably benign |
Het |
| Sntg1 |
A |
T |
1: 8,748,056 (GRCm39) |
V112E |
probably damaging |
Het |
| Strip1 |
A |
T |
3: 107,521,979 (GRCm39) |
M733K |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,241,726 (GRCm39) |
S1655L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,599,949 (GRCm39) |
I19075N |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,771,890 (GRCm39) |
T1437I |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,822 (GRCm39) |
I159F |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,382,300 (GRCm39) |
V450A |
probably damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,743,475 (GRCm39) |
H314L |
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 |
|
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 |
|
|
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'- ACACACAGTGGTCCTTCTTGC -3'
(R):5'- TGTACAGAGCACACTAAACTAGGTC -3'
Sequencing Primer
(F):5'- CAGTGGTCCTTCTTGCTTAGAAAAC -3'
(R):5'- AATGTGCTCACTGTGACAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation