Incidental Mutation 'R1744:Lcp2'
ID |
200601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lcp2
|
Ensembl Gene |
ENSMUSG00000002699 |
Gene Name |
lymphocyte cytosolic protein 2 |
Synonyms |
m1Khoe, SLP-76, SLP76, twm |
MMRRC Submission |
039776-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1744 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
33996928-34042281 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 34019911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052413]
[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: 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 |
0.9755 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
Validation Efficiency |
98% (59/60) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
A |
G |
5: 81,942,267 (GRCm39) |
E1247G |
probably damaging |
Het |
Bcl2l15 |
T |
A |
3: 103,745,856 (GRCm39) |
L165Q |
probably damaging |
Het |
Cd163 |
C |
A |
6: 124,283,987 (GRCm39) |
A53E |
possibly damaging |
Het |
Cemip2 |
C |
A |
19: 21,809,501 (GRCm39) |
Y960* |
probably null |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Clca3a1 |
G |
T |
3: 144,452,596 (GRCm39) |
A629D |
probably damaging |
Het |
Csde1 |
T |
A |
3: 102,957,631 (GRCm39) |
S463R |
probably benign |
Het |
Cth |
C |
G |
3: 157,611,905 (GRCm39) |
R304P |
probably damaging |
Het |
D7Ertd443e |
A |
G |
7: 133,951,142 (GRCm39) |
V177A |
probably benign |
Het |
Ddx56 |
G |
A |
11: 6,216,396 (GRCm39) |
R189W |
probably damaging |
Het |
Dennd2a |
A |
T |
6: 39,457,185 (GRCm39) |
F752L |
probably benign |
Het |
Gabrp |
A |
T |
11: 33,522,462 (GRCm39) |
V28E |
probably benign |
Het |
Gpam |
T |
C |
19: 55,063,023 (GRCm39) |
E763G |
probably damaging |
Het |
Hars1 |
G |
A |
18: 36,903,885 (GRCm39) |
R266C |
probably benign |
Het |
Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
Kmt2d |
T |
C |
15: 98,762,928 (GRCm39) |
K281E |
probably damaging |
Het |
Lbx1 |
T |
C |
19: 45,222,652 (GRCm39) |
K124E |
probably damaging |
Het |
Mab21l2 |
T |
C |
3: 86,454,211 (GRCm39) |
E263G |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,369,646 (GRCm39) |
I140K |
probably damaging |
Het |
Mcemp1 |
G |
A |
8: 3,716,054 (GRCm39) |
A20T |
probably damaging |
Het |
Met |
T |
C |
6: 17,540,645 (GRCm39) |
V137A |
possibly damaging |
Het |
Mgat5 |
T |
C |
1: 127,407,206 (GRCm39) |
F624S |
probably damaging |
Het |
Nutm2 |
T |
C |
13: 50,623,390 (GRCm39) |
I29T |
probably benign |
Het |
Ociad1 |
T |
C |
5: 73,458,062 (GRCm39) |
|
probably null |
Het |
Ogfod2 |
G |
A |
5: 124,252,219 (GRCm39) |
|
probably null |
Het |
Or6c69 |
A |
C |
10: 129,747,262 (GRCm39) |
V295G |
probably damaging |
Het |
Or8g4 |
A |
C |
9: 39,661,711 (GRCm39) |
T10P |
probably benign |
Het |
Otoa |
G |
A |
7: 120,726,999 (GRCm39) |
|
probably benign |
Het |
Otud3 |
A |
C |
4: 138,623,059 (GRCm39) |
L394R |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,541,546 (GRCm39) |
V12A |
probably damaging |
Het |
Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
Prr27 |
A |
G |
5: 87,990,906 (GRCm39) |
I173V |
possibly damaging |
Het |
Psg29 |
T |
C |
7: 16,944,278 (GRCm39) |
C263R |
probably damaging |
Het |
Ptprm |
T |
C |
17: 66,996,361 (GRCm39) |
Y1242C |
probably damaging |
Het |
Retsat |
C |
T |
6: 72,583,558 (GRCm39) |
R84* |
probably null |
Het |
Rif1 |
G |
A |
2: 52,002,404 (GRCm39) |
V1953I |
possibly damaging |
Het |
Ros1 |
A |
T |
10: 51,999,475 (GRCm39) |
N1137K |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,152,620 (GRCm39) |
H787R |
probably benign |
Het |
Sec16a |
T |
C |
2: 26,329,198 (GRCm39) |
E939G |
probably damaging |
Het |
Sh2d4a |
G |
A |
8: 68,783,807 (GRCm39) |
G247D |
possibly damaging |
Het |
Siglec1 |
A |
G |
2: 130,923,219 (GRCm39) |
S509P |
probably damaging |
Het |
Slc25a30 |
A |
G |
14: 76,000,770 (GRCm39) |
I278T |
probably damaging |
Het |
Slc6a20a |
C |
T |
9: 123,492,058 (GRCm39) |
V104I |
probably benign |
Het |
Sp110 |
G |
C |
1: 85,522,093 (GRCm39) |
T70S |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Stxbp1 |
A |
G |
2: 32,696,731 (GRCm39) |
|
probably null |
Het |
Tmem132b |
T |
C |
5: 125,855,908 (GRCm39) |
|
probably null |
Het |
Tnfsf13b |
G |
A |
8: 10,081,661 (GRCm39) |
|
probably null |
Het |
Trappc6a |
A |
G |
7: 19,248,154 (GRCm39) |
E38G |
probably damaging |
Het |
Trps1 |
T |
C |
15: 50,524,609 (GRCm39) |
D857G |
probably damaging |
Het |
Tspear |
T |
A |
10: 77,700,718 (GRCm39) |
|
probably null |
Het |
Vmn1r23 |
A |
T |
6: 57,902,910 (GRCm39) |
N289K |
possibly damaging |
Het |
Zcchc8 |
G |
A |
5: 123,838,436 (GRCm39) |
Q701* |
probably null |
Het |
Zfp618 |
A |
T |
4: 63,004,871 (GRCm39) |
|
probably benign |
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 |
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCAGTTGATGGCCCCATTC -3'
(R):5'- TGATGGTGGCTTAACTCCATGACG -3'
Sequencing Primer
(F):5'- TCATGGAGAAGGAGGAGTGAAG -3'
(R):5'- gctgagtagtagagagagaaacc -3'
|
Posted On |
2014-05-23 |