Incidental Mutation 'IGL01451:Lcp2'
| ID |
84647 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lcp2
|
| Ensembl Gene |
ENSMUSG00000002699 |
| Gene Name |
lymphocyte cytosolic protein 2 |
| Synonyms |
m1Khoe, SLP-76, SLP76, twm |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01451
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
33996928-34042281 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to T
at 33997345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052413]
[ENSMUST00000109329]
|
| AlphaFold |
Q60787 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052413
|
| SMART Domains |
Protein: ENSMUSP00000056621
Gene: ENSMUSG00000002699
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
12 |
78 |
9.3e-4 |
SMART |
|
low complexity region
|
109 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
274 |
321 |
1.93e-5 |
PROSPERO |
|
low complexity region
|
328 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
412 |
N/A |
INTRINSIC |
|
SH2
|
421 |
512 |
4.44e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109329
|
| SMART Domains |
Protein: ENSMUSP00000104952
Gene: ENSMUSG00000002699
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
12 |
78 |
9.3e-4 |
SMART |
|
low complexity region
|
109 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
274 |
321 |
1.86e-5 |
PROSPERO |
|
low complexity region
|
328 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
412 |
N/A |
INTRINSIC |
|
SH2
|
421 |
508 |
8.9e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141450
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]
PHENOTYPE: T cell development is blocked and T cell receptor signaling impaired in homozygous point mutants. Double positive thymocyte and single positive T cell numbers are much reduced. Both positive and negative thymocyte selection is abnormal. Mice have high IgG and IgE levels and exhibit autoimmunity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
A |
G |
3: 124,373,527 (GRCm39) |
S23P |
possibly damaging |
Het |
| Adam1a |
T |
C |
5: 121,657,439 (GRCm39) |
Y618C |
probably benign |
Het |
| Amigo2 |
A |
C |
15: 97,143,107 (GRCm39) |
S438R |
probably benign |
Het |
| Atp5me |
T |
C |
5: 108,581,922 (GRCm39) |
I21V |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,365,017 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,260,390 (GRCm39) |
Y984H |
probably damaging |
Het |
| Dpysl2 |
T |
A |
14: 67,045,367 (GRCm39) |
I469F |
possibly damaging |
Het |
| Edem3 |
C |
T |
1: 151,694,379 (GRCm39) |
T886I |
probably benign |
Het |
| Gart |
T |
C |
16: 91,422,400 (GRCm39) |
T706A |
probably benign |
Het |
| Gfpt2 |
A |
T |
11: 49,698,517 (GRCm39) |
|
probably benign |
Het |
| Gm11541 |
T |
G |
11: 94,586,495 (GRCm39) |
D84A |
unknown |
Het |
| Gne |
T |
C |
4: 44,041,860 (GRCm39) |
|
probably null |
Het |
| Gria4 |
A |
T |
9: 4,503,652 (GRCm39) |
D321E |
probably benign |
Het |
| Ift122 |
T |
G |
6: 115,889,565 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
C |
T |
6: 88,868,948 (GRCm39) |
|
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,687,225 (GRCm39) |
I225V |
probably benign |
Het |
| Ptpru |
C |
A |
4: 131,496,803 (GRCm39) |
|
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,751,492 (GRCm39) |
|
probably null |
Het |
| Slc25a39 |
T |
C |
11: 102,295,726 (GRCm39) |
T138A |
probably damaging |
Het |
| St6galnac1 |
A |
C |
11: 116,660,165 (GRCm39) |
S49R |
probably benign |
Het |
| Stat1 |
T |
C |
1: 52,178,502 (GRCm39) |
L312P |
probably damaging |
Het |
| Tmem198 |
T |
C |
1: 75,461,014 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Treml4 |
T |
C |
17: 48,572,023 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,786,933 (GRCm39) |
D503G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,775,617 (GRCm39) |
E1854D |
unknown |
Het |
| Ubqln3 |
A |
T |
7: 103,791,403 (GRCm39) |
M229K |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,539,457 (GRCm39) |
T939A |
probably damaging |
Het |
|
| Other mutations in Lcp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01730:Lcp2
|
APN |
11 |
34,000,943 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02174:Lcp2
|
APN |
11 |
34,000,966 (GRCm39) |
splice site |
probably benign |
|
|
IGL02228:Lcp2
|
APN |
11 |
33,997,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02814:Lcp2
|
APN |
11 |
34,021,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Lcp2
|
UTSW |
11 |
34,032,418 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0277:Lcp2
|
UTSW |
11 |
34,004,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Lcp2
|
UTSW |
11 |
34,019,854 (GRCm39) |
splice site |
probably benign |
|
|
R0323:Lcp2
|
UTSW |
11 |
34,004,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Lcp2
|
UTSW |
11 |
34,037,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0632:Lcp2
|
UTSW |
11 |
34,032,426 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1479:Lcp2
|
UTSW |
11 |
34,025,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1570:Lcp2
|
UTSW |
11 |
34,039,601 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1744:Lcp2
|
UTSW |
11 |
34,019,911 (GRCm39) |
splice site |
probably null |
|
|
R2212:Lcp2
|
UTSW |
11 |
34,020,995 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2910:Lcp2
|
UTSW |
11 |
34,018,970 (GRCm39) |
splice site |
probably null |
|
|
R2911:Lcp2
|
UTSW |
11 |
34,018,970 (GRCm39) |
splice site |
probably null |
|
|
R3196:Lcp2
|
UTSW |
11 |
34,040,670 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4012:Lcp2
|
UTSW |
11 |
34,018,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Lcp2
|
UTSW |
11 |
34,037,173 (GRCm39) |
unclassified |
probably benign |
|
|
R4417:Lcp2
|
UTSW |
11 |
34,000,917 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4423:Lcp2
|
UTSW |
11 |
34,028,226 (GRCm39) |
intron |
probably benign |
|
|
R4718:Lcp2
|
UTSW |
11 |
34,020,992 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5090:Lcp2
|
UTSW |
11 |
34,039,725 (GRCm39) |
nonsense |
probably null |
|
|
R6347:Lcp2
|
UTSW |
11 |
34,032,501 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7315:Lcp2
|
UTSW |
11 |
34,019,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7694:Lcp2
|
UTSW |
11 |
34,000,924 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7910:Lcp2
|
UTSW |
11 |
34,038,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Lcp2
|
UTSW |
11 |
34,032,394 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8435:Lcp2
|
UTSW |
11 |
34,004,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Lcp2
|
UTSW |
11 |
34,004,354 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9091:Lcp2
|
UTSW |
11 |
34,039,688 (GRCm39) |
missense |
|
|
|
R9270:Lcp2
|
UTSW |
11 |
34,039,688 (GRCm39) |
missense |
|
|
|
R9566:Lcp2
|
UTSW |
11 |
34,000,944 (GRCm39) |
missense |
|
|
|
| Posted On |
2013-11-11 |
Incidental Mutation