Incidental Mutation 'R5152:Lpin2'
| ID |
395479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
042734-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R5152 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71552154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 787
(C787S)
|
| 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 damaging
Transcript: ENSMUST00000126681
AA Change: C825S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: C825S
| 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 damaging
Transcript: ENSMUST00000129635
AA Change: C787S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: C787S
| 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
|
| Meta Mutation Damage Score |
0.9253 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
99% (83/84) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,139,846 (GRCm39) |
S1503P |
probably benign |
Het |
| Actn3 |
C |
A |
19: 4,913,572 (GRCm39) |
V620F |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,223,752 (GRCm39) |
K252E |
probably benign |
Het |
| Adgrg1 |
A |
G |
8: 95,736,373 (GRCm39) |
Y509C |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,536,875 (GRCm39) |
|
probably null |
Het |
| Bod1l |
T |
C |
5: 41,973,886 (GRCm39) |
E2476G |
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,331,811 (GRCm39) |
|
probably benign |
Het |
| Catsperz |
T |
C |
19: 6,900,705 (GRCm39) |
T147A |
probably benign |
Het |
| Cc2d1b |
C |
A |
4: 108,483,283 (GRCm39) |
A289E |
probably benign |
Het |
| Ccdc170 |
A |
C |
10: 4,511,107 (GRCm39) |
H722P |
probably damaging |
Het |
| Cdk13 |
C |
A |
13: 17,893,110 (GRCm39) |
A1358S |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,546,074 (GRCm39) |
|
probably benign |
Het |
| Coch |
A |
G |
12: 51,642,225 (GRCm39) |
N66D |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,564,030 (GRCm39) |
S1732P |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,945,628 (GRCm39) |
V917E |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,445,828 (GRCm39) |
N3299K |
probably benign |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,132 (GRCm39) |
F233I |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,434 (GRCm39) |
H126L |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,806,843 (GRCm39) |
L492P |
probably damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
| Enpp5 |
C |
T |
17: 44,392,024 (GRCm39) |
P151L |
probably damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,397,327 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Flg2 |
C |
A |
3: 93,122,284 (GRCm39) |
P1485T |
unknown |
Het |
| Fmo5 |
A |
G |
3: 97,549,078 (GRCm39) |
Y242C |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,808,916 (GRCm39) |
T1745N |
probably benign |
Het |
| Gata4 |
T |
A |
14: 63,478,570 (GRCm39) |
N10Y |
probably damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm4787 |
A |
C |
12: 81,425,451 (GRCm39) |
S236A |
probably benign |
Het |
| Golga7 |
A |
C |
8: 23,735,965 (GRCm39) |
S94A |
probably benign |
Het |
| Gpbp1 |
A |
G |
13: 111,589,815 (GRCm39) |
|
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,619 (GRCm39) |
Y222H |
probably benign |
Het |
| Gstcd |
A |
G |
3: 132,790,717 (GRCm39) |
Y17H |
possibly damaging |
Het |
| Hephl1 |
C |
A |
9: 14,991,481 (GRCm39) |
D586Y |
probably damaging |
Het |
| Hpn |
C |
A |
7: 30,799,261 (GRCm39) |
V35L |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,400,725 (GRCm39) |
N535I |
probably damaging |
Het |
| Inpp4a |
T |
C |
1: 37,397,616 (GRCm39) |
I45T |
possibly damaging |
Het |
| Itgae |
G |
C |
11: 73,021,821 (GRCm39) |
G901R |
probably damaging |
Het |
| Kif28 |
T |
C |
1: 179,530,103 (GRCm39) |
D686G |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,781,507 (GRCm39) |
E312G |
probably benign |
Het |
| Lamb2 |
C |
A |
9: 108,364,937 (GRCm39) |
S1230R |
probably benign |
Het |
| Lars1 |
A |
T |
18: 42,361,842 (GRCm39) |
D588E |
possibly damaging |
Het |
| Lgr4 |
T |
A |
2: 109,830,948 (GRCm39) |
F292I |
probably damaging |
Het |
| Lmf1 |
C |
T |
17: 25,874,493 (GRCm39) |
S458L |
probably damaging |
Het |
| Ms4a4a |
A |
C |
19: 11,365,676 (GRCm39) |
I138L |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,940,984 (GRCm39) |
F295I |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,577,432 (GRCm39) |
K241* |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,419,268 (GRCm39) |
F4017S |
possibly damaging |
Het |
| Nfkbil1 |
T |
C |
17: 35,440,384 (GRCm39) |
|
probably benign |
Het |
| Or10d5j |
T |
C |
9: 39,868,202 (GRCm39) |
T22A |
probably benign |
Het |
| Or4x6 |
A |
G |
2: 89,949,465 (GRCm39) |
L159P |
probably damaging |
Het |
| Or8g21 |
A |
T |
9: 38,906,473 (GRCm39) |
V86E |
possibly damaging |
Het |
| Osgep |
T |
C |
14: 51,155,315 (GRCm39) |
D81G |
probably damaging |
Het |
| Otos |
A |
G |
1: 92,572,116 (GRCm39) |
F70S |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,179 (GRCm39) |
V384D |
probably damaging |
Het |
| Ppp1r10 |
C |
T |
17: 36,240,144 (GRCm39) |
P514S |
probably damaging |
Het |
| Pramel14 |
G |
A |
4: 143,720,830 (GRCm39) |
P37L |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,430,559 (GRCm39) |
Y309H |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,661,962 (GRCm39) |
D382E |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,153,627 (GRCm39) |
F2226L |
probably damaging |
Het |
| Rmi2 |
C |
T |
16: 10,657,765 (GRCm39) |
T125M |
probably damaging |
Het |
| Setd1a |
C |
T |
7: 127,383,197 (GRCm39) |
T231I |
probably benign |
Het |
| Sftpa1 |
G |
A |
14: 40,856,309 (GRCm39) |
G218D |
probably damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,786,138 (GRCm39) |
F655I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,585,861 (GRCm39) |
I319V |
possibly damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,239,581 (GRCm39) |
P19S |
probably benign |
Het |
| Spata31d1c |
C |
T |
13: 65,183,409 (GRCm39) |
T317I |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,404,742 (GRCm39) |
P2845S |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 123,029,550 (GRCm39) |
|
probably null |
Het |
| Tdpoz9 |
T |
C |
3: 93,957,451 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,013,191 (GRCm39) |
S644T |
probably damaging |
Het |
| Tmem182 |
T |
A |
1: 40,877,460 (GRCm39) |
Y112N |
probably damaging |
Het |
| Usp45 |
T |
A |
4: 21,824,815 (GRCm39) |
N522K |
probably benign |
Het |
| Vnn3 |
A |
T |
10: 23,740,237 (GRCm39) |
Y180F |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,979,241 (GRCm39) |
R282Q |
possibly damaging |
Het |
| Xrn1 |
A |
T |
9: 95,846,118 (GRCm39) |
D57V |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,486,357 (GRCm39) |
V344A |
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 |
|
|
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'- ACAGGTAGCTTTCCAGTGGG -3'
(R):5'- CAGCCGTTGTACTCTGCTTATAG -3'
Sequencing Primer
(F):5'- TTCCTCCTTGGGGACAGG -3'
(R):5'- CTCTGCTTATAGAGTCATGACATGGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation