Incidental Mutation 'R2910:Lcp2'
| ID |
261199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcp2
|
| Ensembl Gene |
ENSMUSG00000002699 |
| Gene Name |
lymphocyte cytosolic protein 2 |
| Synonyms |
m1Khoe, SLP-76, SLP76, twm |
| MMRRC Submission |
040497-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
33996928-34042281 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 34018970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052413]
[ENSMUST00000052413]
[ENSMUST00000109329]
[ENSMUST00000109329]
|
| AlphaFold |
Q60787 |
| Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169878
|
| SMART Domains |
Protein: ENSMUSP00000126796
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 |
1.87e-5 |
PROSPERO |
|
low complexity region
|
328 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
411 |
N/A |
INTRINSIC |
|
SH2
|
420 |
511 |
4.44e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.9497 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
96% (49/51) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,777,902 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,705,238 (GRCm39) |
A1524V |
possibly damaging |
Het |
| Agbl1 |
A |
G |
7: 76,069,586 (GRCm39) |
N121D |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,242,959 (GRCm39) |
S1170P |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,355,746 (GRCm39) |
S1322F |
possibly damaging |
Het |
| Car15 |
G |
A |
16: 17,656,006 (GRCm39) |
|
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,458,086 (GRCm39) |
I633V |
possibly damaging |
Het |
| Cog8 |
A |
T |
8: 107,780,853 (GRCm39) |
V135E |
probably benign |
Het |
| Cts6 |
A |
G |
13: 61,344,215 (GRCm39) |
V279A |
probably damaging |
Het |
| Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
| Dock2 |
A |
G |
11: 34,182,910 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,615,178 (GRCm39) |
D336E |
probably damaging |
Het |
| F11 |
C |
G |
8: 45,694,486 (GRCm39) |
*625S |
probably null |
Het |
| F5 |
A |
G |
1: 164,032,389 (GRCm39) |
M1779V |
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,520,935 (GRCm39) |
D296E |
possibly damaging |
Het |
| Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,416,430 (GRCm39) |
V275M |
probably benign |
Het |
| Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,441,404 (GRCm39) |
I226F |
probably benign |
Het |
| Kcnq1 |
T |
G |
7: 142,979,699 (GRCm39) |
L615R |
probably damaging |
Het |
| Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,361,378 (GRCm39) |
T1563I |
probably damaging |
Het |
| Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,244,695 (GRCm39) |
H176L |
probably damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
| Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,394,268 (GRCm39) |
|
probably benign |
Het |
| Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
| Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,506,957 (GRCm39) |
P941T |
probably damaging |
Het |
| Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,289,067 (GRCm39) |
E60G |
probably benign |
Het |
| Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
| Spata31 |
T |
G |
13: 65,068,250 (GRCm39) |
S133A |
probably benign |
Het |
| Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
| Tfpi |
A |
C |
2: 84,274,437 (GRCm39) |
V184G |
possibly damaging |
Het |
| Tmeff1 |
C |
A |
4: 48,614,961 (GRCm39) |
N139K |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,891,424 (GRCm39) |
D589G |
probably damaging |
Het |
| Trpc1 |
C |
A |
9: 95,631,895 (GRCm39) |
A16S |
probably benign |
Het |
| Vmn2r106 |
A |
C |
17: 20,498,946 (GRCm39) |
L322V |
probably damaging |
Het |
| Vmn2r69 |
G |
T |
7: 85,055,918 (GRCm39) |
A740D |
probably 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 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGTCTCTAGAAGCTGGGAG -3'
(R):5'- GAGTCTCTGCAGGATACCTCTAG -3'
Sequencing Primer
(F):5'- CTCTAGAAGCTGGGAGGCAGC -3'
(R):5'- CAGGATACCTCTAGAGTGGATTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation