Incidental Mutation 'R5894:Lpin2'
| ID |
457421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
043238-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R5894 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71553929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 882
(D882G)
|
| 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 benign
Transcript: ENSMUST00000126681
AA Change: D920G
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: D920G
| 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: D882G
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: D882G
| 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 |
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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
A |
3: 146,356,680 (GRCm39) |
E76V |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 68,773,971 (GRCm39) |
I1024N |
probably damaging |
Het |
| Agr2 |
A |
C |
12: 36,045,509 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
T |
A |
18: 65,414,143 (GRCm39) |
H1991L |
probably damaging |
Het |
| Amotl2 |
T |
A |
9: 102,602,371 (GRCm39) |
M448K |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,780,577 (GRCm39) |
F1876L |
probably damaging |
Het |
| Arl14 |
T |
C |
3: 69,130,009 (GRCm39) |
V52A |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,560,218 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,724,732 (GRCm39) |
T409A |
possibly damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,782,852 (GRCm39) |
R19H |
possibly damaging |
Het |
| Cdh9 |
T |
A |
15: 16,832,186 (GRCm39) |
L358I |
possibly damaging |
Het |
| Ces2h |
T |
G |
8: 105,745,658 (GRCm39) |
I460M |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,272,006 (GRCm39) |
Y507H |
probably benign |
Het |
| Crlf3 |
T |
A |
11: 79,948,678 (GRCm39) |
R256W |
probably damaging |
Het |
| Csdc2 |
T |
A |
15: 81,832,881 (GRCm39) |
F96I |
probably damaging |
Het |
| Csk |
A |
C |
9: 57,535,958 (GRCm39) |
I264S |
probably damaging |
Het |
| Cyp2c29 |
G |
C |
19: 39,318,833 (GRCm39) |
A438P |
possibly damaging |
Het |
| Ddx43 |
G |
A |
9: 78,324,016 (GRCm39) |
G449D |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,529,235 (GRCm39) |
A106E |
possibly damaging |
Het |
| Fchsd2 |
C |
T |
7: 100,840,959 (GRCm39) |
T156I |
probably benign |
Het |
| Frs2 |
T |
A |
10: 116,917,011 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
C |
T |
3: 36,074,124 (GRCm39) |
E342K |
possibly damaging |
Het |
| Grid2ip |
A |
T |
5: 143,374,666 (GRCm39) |
T922S |
probably damaging |
Het |
| Grm1 |
A |
G |
10: 10,955,999 (GRCm39) |
L95P |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,252,893 (GRCm39) |
V348A |
possibly damaging |
Het |
| Insr |
A |
G |
8: 3,224,869 (GRCm39) |
S200P |
possibly damaging |
Het |
| Ints12 |
A |
T |
3: 132,804,319 (GRCm39) |
D102V |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,401,564 (GRCm39) |
D1057G |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,892,113 (GRCm39) |
D225E |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,086,042 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 41,388,233 (GRCm39) |
F464Y |
probably benign |
Het |
| Musk |
G |
A |
4: 58,373,583 (GRCm39) |
C836Y |
probably damaging |
Het |
| Mx1 |
C |
T |
16: 97,255,406 (GRCm39) |
D216N |
probably damaging |
Het |
| Ndrg3 |
A |
T |
2: 156,770,698 (GRCm39) |
N350K |
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,895,019 (GRCm39) |
P990L |
probably damaging |
Het |
| Or4c111 |
T |
A |
2: 88,844,399 (GRCm39) |
N3I |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,647,557 (GRCm39) |
S296P |
possibly damaging |
Het |
| Or6c2 |
A |
G |
10: 129,362,357 (GRCm39) |
D87G |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,721,092 (GRCm39) |
L369P |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,231,088 (GRCm39) |
T57A |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,098,755 (GRCm39) |
T1420S |
possibly damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,743,798 (GRCm39) |
F201S |
probably damaging |
Het |
| Rnf214 |
A |
G |
9: 45,777,916 (GRCm39) |
V630A |
probably damaging |
Het |
| Rxrb |
T |
A |
17: 34,254,718 (GRCm39) |
I181N |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,939,581 (GRCm39) |
N69S |
probably damaging |
Het |
| Scyl2 |
A |
G |
10: 89,476,681 (GRCm39) |
S815P |
probably benign |
Het |
| Sgcd |
A |
G |
11: 47,246,028 (GRCm39) |
V58A |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,266,543 (GRCm39) |
V374I |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,341 (GRCm39) |
I229N |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,962,210 (GRCm39) |
Y381C |
probably damaging |
Het |
| Sohlh1 |
A |
G |
2: 25,734,679 (GRCm39) |
S205P |
possibly damaging |
Het |
| Spata20 |
T |
C |
11: 94,374,444 (GRCm39) |
M308V |
probably damaging |
Het |
| Stag3 |
T |
G |
5: 138,297,100 (GRCm39) |
I550R |
probably damaging |
Het |
| Tac2 |
A |
G |
10: 127,561,971 (GRCm39) |
E25G |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,654,964 (GRCm39) |
|
probably null |
Het |
| Tefm |
G |
A |
11: 80,031,057 (GRCm39) |
R60C |
probably damaging |
Het |
| Trem3 |
T |
C |
17: 48,565,483 (GRCm39) |
V179A |
probably benign |
Het |
| Trim37 |
G |
T |
11: 87,092,266 (GRCm39) |
D692Y |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,508,133 (GRCm39) |
T173A |
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,600,486 (GRCm39) |
|
probably null |
Het |
| Usp18 |
A |
G |
6: 121,238,456 (GRCm39) |
K201R |
probably benign |
Het |
| Usp35 |
T |
A |
7: 96,962,284 (GRCm39) |
Y524F |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,752,734 (GRCm39) |
F208L |
probably damaging |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,654 (GRCm39) |
I255F |
probably damaging |
Het |
| Vstm2a |
A |
T |
11: 16,211,483 (GRCm39) |
I98F |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,855,317 (GRCm39) |
I766F |
possibly damaging |
Het |
| Wdr17 |
T |
A |
8: 55,149,335 (GRCm39) |
Y55F |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,449,551 (GRCm39) |
K172R |
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 |
|
|
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'- CTGAAGAGCCAGCTTTACCG -3'
(R):5'- GGCCCCTTATTACTCTAAGTGCTG -3'
Sequencing Primer
(F):5'- TTACCGCCCAGGGTCTTG -3'
(R):5'- CCCTTATTACTCTAAGTGCTGAGTGG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation