Incidental Mutation 'R6253:Lpin2'
| ID |
506362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpin2
|
| Ensembl Gene |
ENSMUSG00000024052 |
| Gene Name |
lipin 2 |
| Synonyms |
2610511G02Rik |
| MMRRC Submission |
044370-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R6253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71490527-71556813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71538264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 303
(S303R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126681]
[ENSMUST00000129635]
[ENSMUST00000135589]
[ENSMUST00000156570]
|
| AlphaFold |
Q99PI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126681
AA Change: S341R
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: S341R
| 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: S303R
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: S303R
| 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: ENSMUST00000130750
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000142842
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156570
AA Change: S303R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
AA Change: S303R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,528,929 (GRCm39) |
Y151H |
possibly damaging |
Het |
| Aasdh |
A |
G |
5: 77,034,105 (GRCm39) |
I482T |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,616,526 (GRCm39) |
M989I |
probably benign |
Het |
| Acvr2b |
C |
T |
9: 119,257,627 (GRCm39) |
P220L |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,986,758 (GRCm39) |
D204G |
possibly damaging |
Het |
| Arpp19 |
G |
T |
9: 74,964,016 (GRCm39) |
D123Y |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,983,881 (GRCm39) |
I554T |
probably damaging |
Het |
| Bpifa5 |
A |
G |
2: 154,005,420 (GRCm39) |
M1V |
probably null |
Het |
| Cdh3 |
T |
A |
8: 107,263,695 (GRCm39) |
|
probably null |
Het |
| Cep170 |
A |
T |
1: 176,607,960 (GRCm39) |
D165E |
possibly damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
A |
G |
14: 75,957,152 (GRCm39) |
L627P |
probably damaging |
Het |
| Col23a1 |
C |
T |
11: 51,464,995 (GRCm39) |
L453F |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,633,657 (GRCm39) |
Q351L |
probably benign |
Het |
| Ddx4 |
T |
G |
13: 112,772,557 (GRCm39) |
K77N |
probably benign |
Het |
| Ddx4 |
C |
A |
13: 112,772,556 (GRCm39) |
E78* |
probably null |
Het |
| Decr1 |
A |
T |
4: 15,931,179 (GRCm39) |
N92K |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,411,571 (GRCm39) |
L600P |
probably damaging |
Het |
| Ece2 |
A |
C |
16: 20,457,932 (GRCm39) |
N356H |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,317,734 (GRCm39) |
I130N |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,187,097 (GRCm39) |
R1250C |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,505 (GRCm39) |
V1968D |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,923,987 (GRCm39) |
K82E |
probably damaging |
Het |
| Gm5431 |
A |
G |
11: 48,785,826 (GRCm39) |
V183A |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,735,984 (GRCm39) |
S1744P |
possibly damaging |
Het |
| Hnrnpa3 |
C |
G |
2: 75,492,914 (GRCm39) |
Q213E |
possibly damaging |
Het |
| Hspa1a |
A |
G |
17: 35,189,526 (GRCm39) |
F459S |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,751,283 (GRCm39) |
L1601P |
probably damaging |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,323 (GRCm39) |
D102V |
probably damaging |
Het |
| Kansl1 |
G |
A |
11: 104,248,352 (GRCm39) |
T534I |
probably benign |
Het |
| Lrpprc |
T |
A |
17: 85,048,065 (GRCm39) |
I845F |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,749,593 (GRCm39) |
T4259A |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,863,339 (GRCm39) |
S1197G |
probably benign |
Het |
| Mtss1 |
A |
G |
15: 58,815,568 (GRCm39) |
I664T |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,192,793 (GRCm39) |
E1528G |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,152,319 (GRCm39) |
E69V |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,513,203 (GRCm39) |
D627V |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,528,314 (GRCm39) |
N1053S |
probably benign |
Het |
| Or10a4 |
G |
A |
7: 106,697,464 (GRCm39) |
R264H |
possibly damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,145 (GRCm39) |
S308T |
probably benign |
Het |
| Or6z3 |
T |
C |
7: 6,463,547 (GRCm39) |
V13A |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,248,247 (GRCm39) |
S399T |
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,091,558 (GRCm39) |
Y84F |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,802,160 (GRCm39) |
S278P |
probably benign |
Het |
| Prol1 |
A |
G |
5: 88,475,736 (GRCm39) |
Y42C |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,798,205 (GRCm39) |
E906G |
probably damaging |
Het |
| Pwwp3a |
T |
A |
10: 80,068,848 (GRCm39) |
C331S |
probably benign |
Het |
| Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
| Rbp4 |
G |
A |
19: 38,113,428 (GRCm39) |
T30M |
probably benign |
Het |
| Selenbp1 |
T |
C |
3: 94,851,157 (GRCm39) |
L351P |
possibly damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,156,255 (GRCm39) |
F115S |
probably damaging |
Het |
| Tigd3 |
A |
T |
19: 5,942,870 (GRCm39) |
Y87N |
probably damaging |
Het |
| Tigd5 |
T |
A |
15: 75,782,871 (GRCm39) |
L411H |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,258,272 (GRCm39) |
|
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,027,449 (GRCm39) |
Q416R |
probably damaging |
Het |
| Zfand4 |
T |
C |
6: 116,250,575 (GRCm39) |
F2L |
probably damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,682,020 (GRCm39) |
T3153M |
possibly damaging |
Het |
| Zfp697 |
T |
G |
3: 98,334,855 (GRCm39) |
C207G |
possibly damaging |
Het |
| Zfp935 |
T |
C |
13: 62,602,685 (GRCm39) |
T172A |
probably benign |
Het |
| Znrf3 |
G |
T |
11: 5,230,865 (GRCm39) |
L883I |
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 |
|
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'- TCTCCAGTGTTTGACTCTGATG -3'
(R):5'- AGGGTCTGCATCTAATAACGATG -3'
Sequencing Primer
(F):5'- GCCAATAGTGTTCTGTTTCACAGC -3'
(R):5'- ACGATGAAATCTGAGGTGCTTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation