Incidental Mutation 'R5099:Lpin2'
| ID |
388194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
042688-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R5099 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 71550965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 708
(W708*)
|
| 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 null
Transcript: ENSMUST00000126681
AA Change: W746*
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: W746*
| 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: W708*
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: W708*
| 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: ENSMUST00000156565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsa |
A |
G |
15: 89,359,542 (GRCm39) |
L80P |
probably damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,570,533 (GRCm39) |
D33G |
probably benign |
Het |
| Ccdc178 |
A |
T |
18: 22,238,648 (GRCm39) |
V323E |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,513 (GRCm39) |
V210A |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
| Gbp9 |
A |
T |
5: 105,242,379 (GRCm39) |
L120Q |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,161,556 (GRCm39) |
I121N |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,309,674 (GRCm39) |
M1068K |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,701,173 (GRCm39) |
I414T |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,039,465 (GRCm39) |
|
probably benign |
Het |
| Mff |
C |
T |
1: 82,728,192 (GRCm39) |
|
probably benign |
Het |
| Ms4a20 |
T |
C |
19: 11,089,825 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,085,460 (GRCm39) |
C1545Y |
probably damaging |
Het |
| Or5ac24 |
C |
T |
16: 59,165,266 (GRCm39) |
G266D |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,809 (GRCm39) |
H6R |
probably benign |
Het |
| Or8k36-ps1 |
A |
T |
2: 86,437,560 (GRCm39) |
N118K |
unknown |
Het |
| Ppm1n |
A |
T |
7: 19,011,903 (GRCm39) |
L392Q |
possibly damaging |
Het |
| Prr22 |
T |
C |
17: 57,078,467 (GRCm39) |
F207L |
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,046,592 (GRCm39) |
|
noncoding transcript |
Het |
| Rin2 |
G |
A |
2: 145,720,821 (GRCm39) |
C718Y |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,975,350 (GRCm39) |
T1089I |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,108,145 (GRCm39) |
V1510A |
probably damaging |
Het |
| Slfn3 |
A |
T |
11: 83,105,764 (GRCm39) |
Y587F |
probably damaging |
Het |
| Sp2 |
T |
C |
11: 96,852,175 (GRCm39) |
K250E |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,336,585 (GRCm39) |
S333P |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,030 (GRCm39) |
T419A |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,744 (GRCm39) |
M203K |
probably benign |
Het |
| Tmem176b |
T |
C |
6: 48,811,463 (GRCm39) |
Y62C |
probably benign |
Het |
| Tox |
G |
T |
4: 6,688,958 (GRCm39) |
Q469K |
probably benign |
Het |
| Trgv5 |
G |
T |
13: 19,376,886 (GRCm39) |
C111F |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,864 (GRCm39) |
N243D |
probably damaging |
Het |
| Ube2q2 |
T |
A |
9: 55,113,307 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
C |
T |
4: 25,275,914 (GRCm39) |
R83Q |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,949,936 (GRCm39) |
Q701R |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,816 (GRCm39) |
C95S |
probably damaging |
Het |
| Vmn1r81 |
A |
G |
7: 11,994,248 (GRCm39) |
I120T |
possibly 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 |
|
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'- GTATCATTACAAGGCTGCCTTTTG -3'
(R):5'- CTGATAGGATACCAAGCACATGC -3'
Sequencing Primer
(F):5'- GGCTGTATAAAATCAGGATAAACCC -3'
(R):5'- GCTTGAACACAAAGCTACAAATATG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation