Incidental Mutation 'R0100:Lpin3'
| ID |
212473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin3
|
| Ensembl Gene |
ENSMUSG00000027412 |
| Gene Name |
lipin 3 |
| Synonyms |
9130206L11Rik |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
28 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
160722590-160747920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 160747260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 829
(Y829H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040872]
[ENSMUST00000057169]
[ENSMUST00000109454]
[ENSMUST00000109455]
[ENSMUST00000109456]
[ENSMUST00000109457]
|
| AlphaFold |
Q99PI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040872
AA Change: Y829H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: Y829H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
5.8e-52 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
569 |
N/A |
INTRINSIC |
|
LNS2
|
637 |
793 |
1.4e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057169
|
| SMART Domains |
Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
55 |
125 |
7.3e-18 |
PFAM |
|
low complexity region
|
144 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109454
|
| SMART Domains |
Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
54 |
127 |
6.4e-22 |
PFAM |
|
low complexity region
|
144 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109455
AA Change: Y798H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: Y798H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
2.4e-52 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
538 |
N/A |
INTRINSIC |
|
LNS2
|
606 |
762 |
1.4e-105 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109456
AA Change: Y829H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: Y829H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
5.8e-52 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
569 |
N/A |
INTRINSIC |
|
LNS2
|
637 |
793 |
1.4e-105 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109457
AA Change: Y839H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: Y839H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
110 |
4.1e-48 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
Pfam:Lipin_mid
|
435 |
538 |
9.5e-35 |
PFAM |
|
low complexity region
|
569 |
579 |
N/A |
INTRINSIC |
|
LNS2
|
647 |
803 |
1.4e-105 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124920
|
| Meta Mutation Damage Score |
0.6929 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
| Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
| Ccdc51 |
C |
T |
9: 108,921,066 (GRCm39) |
Q318* |
probably null |
Het |
| Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
| Dbr1 |
T |
A |
9: 99,465,722 (GRCm39) |
D433E |
probably benign |
Het |
| Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Fam81a |
C |
T |
9: 70,010,091 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
| Fbxo47 |
C |
T |
11: 97,759,432 (GRCm39) |
G165S |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
| Gpatch2 |
C |
A |
1: 186,958,014 (GRCm39) |
A123E |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,857 (GRCm39) |
L705P |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,531,783 (GRCm39) |
|
probably null |
Het |
| Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
| Mocs3 |
C |
T |
2: 168,073,110 (GRCm39) |
R186C |
probably damaging |
Het |
| Or10al5 |
T |
C |
17: 38,063,594 (GRCm39) |
F283S |
probably benign |
Het |
| Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,001,431 (GRCm39) |
I42F |
probably benign |
Het |
| Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
| Tmem106a |
T |
C |
11: 101,477,084 (GRCm39) |
S98P |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,112,823 (GRCm39) |
T170A |
probably benign |
Het |
| Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,232 (GRCm39) |
P566Q |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
possibly damaging |
Het |
|
| Other mutations in Lpin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Lpin3
|
APN |
2 |
160,735,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01373:Lpin3
|
APN |
2 |
160,745,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01576:Lpin3
|
APN |
2 |
160,739,047 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02124:Lpin3
|
APN |
2 |
160,737,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02272:Lpin3
|
APN |
2 |
160,743,581 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02314:Lpin3
|
APN |
2 |
160,740,638 (GRCm39) |
nonsense |
probably null |
|
|
IGL02374:Lpin3
|
APN |
2 |
160,737,758 (GRCm39) |
splice site |
probably benign |
|
|
IGL02554:Lpin3
|
APN |
2 |
160,738,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02693:Lpin3
|
APN |
2 |
160,746,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02858:Lpin3
|
APN |
2 |
160,740,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL03143:Lpin3
|
APN |
2 |
160,745,518 (GRCm39) |
splice site |
probably benign |
|
|
R0100:Lpin3
|
UTSW |
2 |
160,747,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Lpin3
|
UTSW |
2 |
160,740,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Lpin3
|
UTSW |
2 |
160,740,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Lpin3
|
UTSW |
2 |
160,747,225 (GRCm39) |
missense |
probably benign |
|
|
R0330:Lpin3
|
UTSW |
2 |
160,747,225 (GRCm39) |
missense |
probably benign |
|
|
R0570:Lpin3
|
UTSW |
2 |
160,745,944 (GRCm39) |
splice site |
probably benign |
|
|
R0633:Lpin3
|
UTSW |
2 |
160,745,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0781:Lpin3
|
UTSW |
2 |
160,735,999 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1109:Lpin3
|
UTSW |
2 |
160,740,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Lpin3
|
UTSW |
2 |
160,735,999 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1404:Lpin3
|
UTSW |
2 |
160,734,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1404:Lpin3
|
UTSW |
2 |
160,734,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1513:Lpin3
|
UTSW |
2 |
160,746,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Lpin3
|
UTSW |
2 |
160,737,310 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1785:Lpin3
|
UTSW |
2 |
160,738,729 (GRCm39) |
nonsense |
probably null |
|
|
R1786:Lpin3
|
UTSW |
2 |
160,738,729 (GRCm39) |
nonsense |
probably null |
|
|
R1896:Lpin3
|
UTSW |
2 |
160,747,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4440:Lpin3
|
UTSW |
2 |
160,740,565 (GRCm39) |
missense |
probably benign |
|
|
R4470:Lpin3
|
UTSW |
2 |
160,737,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4996:Lpin3
|
UTSW |
2 |
160,747,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5014:Lpin3
|
UTSW |
2 |
160,746,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Lpin3
|
UTSW |
2 |
160,738,981 (GRCm39) |
missense |
probably benign |
|
|
R5184:Lpin3
|
UTSW |
2 |
160,739,058 (GRCm39) |
missense |
probably benign |
|
|
R5405:Lpin3
|
UTSW |
2 |
160,745,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5442:Lpin3
|
UTSW |
2 |
160,746,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Lpin3
|
UTSW |
2 |
160,739,250 (GRCm39) |
missense |
probably benign |
|
|
R5670:Lpin3
|
UTSW |
2 |
160,739,250 (GRCm39) |
missense |
probably benign |
|
|
R5693:Lpin3
|
UTSW |
2 |
160,737,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6084:Lpin3
|
UTSW |
2 |
160,737,721 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6994:Lpin3
|
UTSW |
2 |
160,746,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Lpin3
|
UTSW |
2 |
160,738,672 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7157:Lpin3
|
UTSW |
2 |
160,740,627 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7207:Lpin3
|
UTSW |
2 |
160,735,923 (GRCm39) |
nonsense |
probably null |
|
|
R7430:Lpin3
|
UTSW |
2 |
160,740,586 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7459:Lpin3
|
UTSW |
2 |
160,739,220 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7603:Lpin3
|
UTSW |
2 |
160,745,674 (GRCm39) |
splice site |
probably null |
|
|
R7644:Lpin3
|
UTSW |
2 |
160,738,690 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7706:Lpin3
|
UTSW |
2 |
160,747,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Lpin3
|
UTSW |
2 |
160,737,310 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8443:Lpin3
|
UTSW |
2 |
160,737,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Lpin3
|
UTSW |
2 |
160,738,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9288:Lpin3
|
UTSW |
2 |
160,745,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9385:Lpin3
|
UTSW |
2 |
160,738,993 (GRCm39) |
missense |
probably benign |
|
|
R9455:Lpin3
|
UTSW |
2 |
160,737,259 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9482:Lpin3
|
UTSW |
2 |
160,746,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9700:Lpin3
|
UTSW |
2 |
160,740,565 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9732:Lpin3
|
UTSW |
2 |
160,734,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0002:Lpin3
|
UTSW |
2 |
160,745,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Lpin3
|
UTSW |
2 |
160,734,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Lpin3
|
UTSW |
2 |
160,741,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCCCGAATCTTCACAGTCAACC -3'
(R):5'- CCGAGCAGTCAAACTGATGAACACG -3'
Sequencing Primer
(F):5'- ccacgttaggccacgtaag -3'
(R):5'- ACTGATGAACACGGCATTTG -3'
|
| Posted On |
2014-07-03 |
Incidental Mutation