Incidental Mutation 'IGL02174:Lcp2'
| ID |
283053 |
| 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 # |
IGL02174
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
33996928-34042281 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 34000966 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,738,154 (GRCm39) |
I1199V |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,575,783 (GRCm39) |
T4861I |
probably benign |
Het |
| Ampd2 |
T |
C |
3: 107,987,601 (GRCm39) |
D108G |
probably damaging |
Het |
| Azin1 |
A |
G |
15: 38,493,730 (GRCm39) |
F298L |
probably benign |
Het |
| Bag1 |
T |
A |
4: 40,941,555 (GRCm39) |
E123D |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,339 (GRCm39) |
E330G |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,940,938 (GRCm39) |
K435E |
probably benign |
Het |
| Clip2 |
T |
G |
5: 134,523,118 (GRCm39) |
K943T |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,185,415 (GRCm39) |
I3527V |
possibly damaging |
Het |
| Cyp2w1 |
C |
T |
5: 139,341,384 (GRCm39) |
R244C |
probably benign |
Het |
| Dcaf13 |
C |
A |
15: 39,001,544 (GRCm39) |
A284E |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,041 (GRCm39) |
L279Q |
probably damaging |
Het |
| Dgki |
A |
G |
6: 37,009,856 (GRCm39) |
L497P |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,428,072 (GRCm39) |
I233F |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,926,085 (GRCm39) |
G720* |
probably null |
Het |
| Emc1 |
T |
C |
4: 139,098,979 (GRCm39) |
Y821H |
possibly damaging |
Het |
| Esr1 |
C |
T |
10: 4,948,003 (GRCm39) |
R519W |
probably damaging |
Het |
| Gamt |
A |
T |
10: 80,094,230 (GRCm39) |
V227E |
possibly damaging |
Het |
| Habp2 |
A |
G |
19: 56,300,169 (GRCm39) |
Q206R |
probably damaging |
Het |
| Ihh |
A |
G |
1: 74,990,105 (GRCm39) |
I90T |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,911,858 (GRCm39) |
|
probably benign |
Het |
| Lyrm2 |
A |
G |
4: 32,800,649 (GRCm39) |
I29V |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,385,587 (GRCm39) |
D1168G |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,828,953 (GRCm39) |
S753P |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,337,204 (GRCm39) |
E367G |
probably benign |
Het |
| Ndor1 |
G |
A |
2: 25,139,206 (GRCm39) |
A255V |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,683 (GRCm39) |
P148S |
probably damaging |
Het |
| Or4c121 |
A |
T |
2: 89,023,712 (GRCm39) |
F222Y |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,442 (GRCm39) |
M284L |
possibly damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,438 (GRCm39) |
Y239C |
probably benign |
Het |
| Or8b41 |
A |
T |
9: 38,055,081 (GRCm39) |
T217S |
possibly damaging |
Het |
| Pappa2 |
C |
T |
1: 158,589,188 (GRCm39) |
C1679Y |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,551 (GRCm39) |
I508N |
probably damaging |
Het |
| Pkd2l1 |
G |
A |
19: 44,145,707 (GRCm39) |
T172I |
probably benign |
Het |
| Pld5 |
A |
G |
1: 176,102,310 (GRCm39) |
V44A |
possibly damaging |
Het |
| Prss44 |
T |
C |
9: 110,646,199 (GRCm39) |
W309R |
probably damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,301,237 (GRCm39) |
N88K |
probably benign |
Het |
| Rspry1 |
A |
G |
8: 95,359,768 (GRCm39) |
I102M |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,695,606 (GRCm39) |
|
probably null |
Het |
| Tbx3 |
C |
A |
5: 119,813,649 (GRCm39) |
Y228* |
probably null |
Het |
| Tcf15 |
G |
T |
2: 151,986,065 (GRCm39) |
|
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,578,003 (GRCm39) |
S94P |
possibly damaging |
Het |
| Trmt10b |
A |
T |
4: 45,308,508 (GRCm39) |
I223F |
possibly damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,763,063 (GRCm39) |
G317* |
probably null |
Het |
| Urod |
T |
A |
4: 116,847,479 (GRCm39) |
|
probably benign |
Het |
| Vwf |
G |
T |
6: 125,532,358 (GRCm39) |
R52L |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,210,643 (GRCm39) |
Q232H |
probably damaging |
Het |
| Zbtb10 |
C |
A |
3: 9,316,872 (GRCm39) |
P228Q |
probably damaging |
Het |
| Zfp764l1 |
G |
A |
7: 126,991,525 (GRCm39) |
T154I |
possibly damaging |
Het |
|
| Other mutations in Lcp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01451:Lcp2
|
APN |
11 |
33,997,345 (GRCm39) |
start gained |
probably benign |
|
|
IGL01730:Lcp2
|
APN |
11 |
34,000,943 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
2015-04-16 |
Incidental Mutation