Incidental Mutation 'R9742:Lsr'
| ID |
731872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lsr
|
| Ensembl Gene |
ENSMUSG00000001247 |
| Gene Name |
lipolysis stimulated lipoprotein receptor |
| Synonyms |
Lisch7, ILDR3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9742 (G1)
|
| Quality Score |
125.467 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30657195-30672889 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CTCTTCTTCTTCTTCTTC to CTCTTCTTCTTCTTC
at 30657492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001279]
[ENSMUST00000058860]
[ENSMUST00000098553]
[ENSMUST00000108116]
[ENSMUST00000108119]
[ENSMUST00000147431]
[ENSMUST00000162228]
[ENSMUST00000170699]
[ENSMUST00000172417]
[ENSMUST00000205961]
|
| AlphaFold |
Q99KG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001279
|
| SMART Domains |
Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
| 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: ENSMUST00000058860
|
| SMART Domains |
Protein: ENSMUSP00000132256
Gene: ENSMUSG00000058239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
110 |
N/A |
INTRINSIC |
|
HLH
|
241 |
296 |
1.36e-16 |
SMART |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
| 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 |
probably benign
Transcript: ENSMUST00000108119
|
| SMART Domains |
Protein: ENSMUSP00000132021
Gene: ENSMUSG00000058239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
HLH
|
174 |
229 |
1.36e-16 |
SMART |
|
| 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 |
probably benign
Transcript: ENSMUST00000162228
|
| SMART Domains |
Protein: ENSMUSP00000125520
Gene: ENSMUSG00000058239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
110 |
N/A |
INTRINSIC |
|
HLH
|
214 |
269 |
1.36e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170442
|
| SMART Domains |
Protein: ENSMUSP00000130298
Gene: ENSMUSG00000058239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
65 |
N/A |
INTRINSIC |
|
HLH
|
196 |
243 |
1.83e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172417
|
| SMART Domains |
Protein: ENSMUSP00000132833
Gene: ENSMUSG00000058239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
HLH
|
110 |
165 |
1.36e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205961
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
G |
7: 78,749,115 (GRCm39) |
S1295R |
probably benign |
Het |
| Acsf2 |
C |
A |
11: 94,463,963 (GRCm39) |
V74L |
probably benign |
Het |
| Actrt3 |
T |
C |
3: 30,652,434 (GRCm39) |
Y220C |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,541,986 (GRCm39) |
|
probably null |
Het |
| Ak2 |
T |
A |
4: 128,901,961 (GRCm39) |
D211E |
possibly damaging |
Het |
| Atp4b |
G |
A |
8: 13,440,097 (GRCm39) |
T83I |
probably damaging |
Het |
| Brat1 |
A |
G |
5: 140,703,912 (GRCm39) |
T722A |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,943,840 (GRCm39) |
Y1557C |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,935 (GRCm39) |
D1051G |
possibly damaging |
Het |
| Cuedc2 |
A |
G |
19: 46,319,727 (GRCm39) |
|
probably null |
Het |
| Dtnb |
A |
T |
12: 3,736,740 (GRCm39) |
K293N |
possibly damaging |
Het |
| Dusp26 |
A |
T |
8: 31,584,198 (GRCm39) |
T102S |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,024,170 (GRCm39) |
L1079H |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,026,065 (GRCm39) |
Y459C |
probably damaging |
Het |
| Fam89b |
A |
T |
19: 5,779,330 (GRCm39) |
S76T |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,251,682 (GRCm39) |
S278P |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,777,693 (GRCm39) |
E1171* |
probably null |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Il17ra |
T |
A |
6: 120,458,466 (GRCm39) |
I539N |
probably damaging |
Het |
| Khdc1c |
T |
G |
1: 21,439,945 (GRCm39) |
H165Q |
probably benign |
Het |
| Ldb1 |
A |
G |
19: 46,023,858 (GRCm39) |
|
probably null |
Het |
| Lrrc27 |
C |
T |
7: 138,806,229 (GRCm39) |
A298V |
probably benign |
Het |
| Mpi |
A |
G |
9: 57,452,606 (GRCm39) |
C309R |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,901,180 (GRCm39) |
A472V |
possibly damaging |
Het |
| Mtcl3 |
C |
A |
10: 29,024,394 (GRCm39) |
Q437K |
probably benign |
Het |
| Muc17 |
A |
G |
5: 137,167,127 (GRCm39) |
Y276H |
|
Het |
| Myh6 |
T |
A |
14: 55,194,056 (GRCm39) |
M778L |
probably benign |
Het |
| Nmnat1 |
T |
A |
4: 149,553,338 (GRCm39) |
E258V |
probably damaging |
Het |
| Or10ag53 |
T |
C |
2: 87,082,376 (GRCm39) |
F32L |
probably benign |
Het |
| Or5b108 |
T |
C |
19: 13,168,769 (GRCm39) |
V246A |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,022,487 (GRCm39) |
E1143G |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,082,912 (GRCm39) |
D579N |
probably damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,688,281 (GRCm39) |
Q93R |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,400,616 (GRCm39) |
I742N |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,222 (GRCm39) |
Y38C |
probably damaging |
Het |
| Strbp |
T |
C |
2: 37,515,268 (GRCm39) |
T253A |
probably damaging |
Het |
| Trim40 |
A |
G |
17: 37,199,902 (GRCm39) |
S59P |
possibly damaging |
Het |
| Trpm6 |
G |
T |
19: 18,800,766 (GRCm39) |
V827L |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,156,792 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
T |
C |
17: 55,918,009 (GRCm39) |
T168A |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,809,987 (GRCm39) |
H1745Y |
|
Het |
| Xrra1 |
A |
G |
7: 99,563,660 (GRCm39) |
D549G |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,806 (GRCm39) |
E725G |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,749,179 (GRCm39) |
R889H |
probably benign |
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 |
|
IGL01893:Lsr
|
APN |
7 |
30,661,657 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
X0050:Lsr
|
UTSW |
7 |
30,671,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGACTCAGGGCCAAATTCTG -3'
(R):5'- ACTTGCCACATTCCCGAGATC -3'
Sequencing Primer
(F):5'- CTCAGGGCCAAATTCTGCAAAGG -3'
(R):5'- CCGAGATCCCCACTATTATGATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation