Incidental Mutation 'IGL01893:Lsr'
ID |
179315 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lsr
|
Ensembl Gene |
ENSMUSG00000001247 |
Gene Name |
lipolysis stimulated lipoprotein receptor |
Synonyms |
Lisch7, ILDR3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01893
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30657195-30672889 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30661657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 210
(V210E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001279]
[ENSMUST00000098553]
[ENSMUST00000108116]
[ENSMUST00000147431]
[ENSMUST00000205961]
|
AlphaFold |
Q99KG5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001279
AA Change: V210E
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000001279 Gene: ENSMUSG00000001247 AA Change: V210E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
IG
|
43 |
186 |
1.23e-3 |
SMART |
Pfam:LSR
|
206 |
253 |
9.6e-27 |
PFAM |
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
low complexity region
|
445 |
464 |
N/A |
INTRINSIC |
low complexity region
|
468 |
487 |
N/A |
INTRINSIC |
low complexity region
|
496 |
513 |
N/A |
INTRINSIC |
low complexity region
|
544 |
558 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098553
|
SMART Domains |
Protein: ENSMUSP00000096153 Gene: ENSMUSG00000001247
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
IG
|
43 |
186 |
1.23e-3 |
SMART |
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
low complexity region
|
377 |
396 |
N/A |
INTRINSIC |
low complexity region
|
400 |
419 |
N/A |
INTRINSIC |
low complexity region
|
428 |
445 |
N/A |
INTRINSIC |
low complexity region
|
476 |
490 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108116
AA Change: V191E
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000103751 Gene: ENSMUSG00000001247 AA Change: V191E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
IG
|
43 |
186 |
1.23e-3 |
SMART |
Pfam:LSR
|
187 |
235 |
2.3e-25 |
PFAM |
low complexity region
|
261 |
277 |
N/A |
INTRINSIC |
low complexity region
|
426 |
445 |
N/A |
INTRINSIC |
low complexity region
|
449 |
468 |
N/A |
INTRINSIC |
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
low complexity region
|
525 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133179
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147431
|
SMART Domains |
Protein: ENSMUSP00000123487 Gene: ENSMUSG00000001247
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
low complexity region
|
65 |
81 |
N/A |
INTRINSIC |
low complexity region
|
230 |
249 |
N/A |
INTRINSIC |
low complexity region
|
253 |
272 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181395
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205961
AA Change: V210E
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206345
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic lethality during fetal growth and development, liver hypoplasia, and variable penetrance of pallor, hemorrhaging, superficial skin detachment, and reduced size. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
T |
A |
3: 116,582,198 (GRCm39) |
I275F |
probably damaging |
Het |
Avil |
G |
A |
10: 126,856,415 (GRCm39) |
E815K |
possibly damaging |
Het |
Car9 |
T |
A |
4: 43,510,252 (GRCm39) |
I278N |
probably damaging |
Het |
Cast |
T |
A |
13: 74,875,408 (GRCm39) |
K480* |
probably null |
Het |
Cenpj |
A |
G |
14: 56,790,931 (GRCm39) |
F373L |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,204,366 (GRCm39) |
|
probably null |
Het |
Diaph3 |
G |
A |
14: 87,156,288 (GRCm39) |
T675I |
possibly damaging |
Het |
Dip2b |
A |
T |
15: 100,069,101 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,988,427 (GRCm39) |
D3425G |
probably damaging |
Het |
Dolk |
A |
G |
2: 30,175,926 (GRCm39) |
Y40H |
probably benign |
Het |
Drosha |
T |
C |
15: 12,866,736 (GRCm39) |
|
probably benign |
Het |
Dusp15 |
A |
G |
2: 152,790,956 (GRCm39) |
|
probably null |
Het |
Edrf1 |
T |
C |
7: 133,258,831 (GRCm39) |
F770L |
probably benign |
Het |
Gabra1 |
T |
C |
11: 42,024,586 (GRCm39) |
K363R |
possibly damaging |
Het |
Glipr1l1 |
A |
C |
10: 111,912,074 (GRCm39) |
T203P |
probably benign |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
H2-Q10 |
T |
C |
17: 35,784,168 (GRCm39) |
S270P |
probably damaging |
Het |
Hipk2 |
A |
T |
6: 38,795,330 (GRCm39) |
M313K |
probably benign |
Het |
Htt |
T |
A |
5: 35,034,174 (GRCm39) |
I1920N |
probably damaging |
Het |
Mbtd1 |
A |
T |
11: 93,812,238 (GRCm39) |
I181L |
probably null |
Het |
Mettl16 |
A |
T |
11: 74,696,097 (GRCm39) |
T273S |
possibly damaging |
Het |
Mlst8 |
T |
C |
17: 24,696,961 (GRCm39) |
N74D |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,383,174 (GRCm39) |
I102T |
probably damaging |
Het |
Nme7 |
C |
T |
1: 164,172,850 (GRCm39) |
A187V |
probably damaging |
Het |
Nphp1 |
A |
T |
2: 127,611,564 (GRCm39) |
W261R |
probably damaging |
Het |
Or12e13 |
G |
T |
2: 87,664,207 (GRCm39) |
G275* |
probably null |
Het |
Or2h2 |
A |
G |
17: 37,396,760 (GRCm39) |
L99P |
probably damaging |
Het |
Or4f14 |
A |
T |
2: 111,742,589 (GRCm39) |
S229T |
possibly damaging |
Het |
Orc6 |
A |
G |
8: 86,034,272 (GRCm39) |
D165G |
probably damaging |
Het |
Ovca2 |
A |
G |
11: 75,069,133 (GRCm39) |
S89P |
probably benign |
Het |
Pcdhb12 |
T |
G |
18: 37,570,263 (GRCm39) |
S470A |
probably benign |
Het |
Phactr2 |
T |
C |
10: 13,122,932 (GRCm39) |
T397A |
probably benign |
Het |
Pms2 |
T |
C |
5: 143,860,337 (GRCm39) |
L50P |
probably damaging |
Het |
Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
Serpinb11 |
C |
A |
1: 107,305,387 (GRCm39) |
S254R |
probably benign |
Het |
Serpinb11 |
C |
A |
1: 107,305,388 (GRCm39) |
Q255K |
probably benign |
Het |
Skap2 |
T |
C |
6: 51,851,556 (GRCm39) |
T79A |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Tbx19 |
A |
T |
1: 164,967,767 (GRCm39) |
S327T |
possibly damaging |
Het |
Themis3 |
A |
G |
17: 66,866,622 (GRCm39) |
L206P |
possibly damaging |
Het |
Tmem132c |
T |
A |
5: 127,540,093 (GRCm39) |
L373Q |
possibly damaging |
Het |
Unc13c |
G |
T |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
Vmn2r106 |
A |
T |
17: 20,497,730 (GRCm39) |
M503K |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r33 |
A |
G |
7: 7,566,776 (GRCm39) |
I112T |
probably benign |
Het |
Vps13a |
A |
C |
19: 16,641,139 (GRCm39) |
W2328G |
probably damaging |
Het |
|
Other mutations in Lsr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00964:Lsr
|
APN |
7 |
30,671,421 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02557:Lsr
|
APN |
7 |
30,657,919 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02800:Lsr
|
APN |
7 |
30,657,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03030:Lsr
|
APN |
7 |
30,658,706 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL03166:Lsr
|
APN |
7 |
30,661,522 (GRCm39) |
critical splice donor site |
probably null |
|
R0349:Lsr
|
UTSW |
7 |
30,658,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R0513:Lsr
|
UTSW |
7 |
30,657,763 (GRCm39) |
missense |
probably benign |
0.01 |
R1226:Lsr
|
UTSW |
7 |
30,671,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R1539:Lsr
|
UTSW |
7 |
30,671,517 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2281:Lsr
|
UTSW |
7 |
30,657,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R4208:Lsr
|
UTSW |
7 |
30,672,519 (GRCm39) |
missense |
probably benign |
0.00 |
R4422:Lsr
|
UTSW |
7 |
30,665,422 (GRCm39) |
missense |
probably benign |
0.08 |
R4544:Lsr
|
UTSW |
7 |
30,671,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R4727:Lsr
|
UTSW |
7 |
30,665,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Lsr
|
UTSW |
7 |
30,657,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R4946:Lsr
|
UTSW |
7 |
30,657,634 (GRCm39) |
missense |
probably benign |
0.17 |
R5157:Lsr
|
UTSW |
7 |
30,665,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R5652:Lsr
|
UTSW |
7 |
30,658,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R6052:Lsr
|
UTSW |
7 |
30,658,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R6314:Lsr
|
UTSW |
7 |
30,658,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R6566:Lsr
|
UTSW |
7 |
30,671,508 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6917:Lsr
|
UTSW |
7 |
30,657,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7842:Lsr
|
UTSW |
7 |
30,665,437 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7941:Lsr
|
UTSW |
7 |
30,672,520 (GRCm39) |
missense |
probably benign |
|
R9255:Lsr
|
UTSW |
7 |
30,657,670 (GRCm39) |
missense |
probably benign |
0.01 |
R9641:Lsr
|
UTSW |
7 |
30,658,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R9742:Lsr
|
UTSW |
7 |
30,657,492 (GRCm39) |
small deletion |
probably benign |
|
X0050:Lsr
|
UTSW |
7 |
30,671,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |