Incidental Mutation 'R8435:Lcp2'
| ID |
653962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcp2
|
| Ensembl Gene |
ENSMUSG00000002699 |
| Gene Name |
lymphocyte cytosolic protein 2 |
| Synonyms |
m1Khoe, SLP-76, SLP76, twm |
| MMRRC Submission |
067824-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8435 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
33996928-34042281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34004316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 51
(E51G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052413]
[ENSMUST00000109329]
|
| AlphaFold |
Q60787 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052413
AA Change: E51G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056621
Gene: ENSMUSG00000002699
AA Change: E51G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000104952
Gene: ENSMUSG00000002699
AA Change: E51G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 |
|---|
| 9030624G23Rik |
G |
T |
12: 24,146,881 (GRCm39) |
T30K |
possibly damaging |
Het |
| Adam20 |
C |
T |
8: 41,248,072 (GRCm39) |
P61S |
probably damaging |
Het |
| Akip1 |
C |
T |
7: 109,304,193 (GRCm39) |
S90L |
unknown |
Het |
| Atp13a5 |
C |
T |
16: 29,099,747 (GRCm39) |
|
probably null |
Het |
| Atp1a1 |
A |
G |
3: 101,490,078 (GRCm39) |
Y684H |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,501,682 (GRCm39) |
C20S |
possibly damaging |
Het |
| Cage1 |
T |
C |
13: 38,203,161 (GRCm39) |
I634M |
possibly damaging |
Het |
| Cckbr |
T |
C |
7: 105,075,280 (GRCm39) |
S17P |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,321,715 (GRCm39) |
T366A |
probably benign |
Het |
| Cps1 |
G |
A |
1: 67,251,589 (GRCm39) |
V1196I |
probably benign |
Het |
| Ddc |
A |
T |
11: 11,814,902 (GRCm39) |
S188T |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,729,070 (GRCm39) |
C82R |
possibly damaging |
Het |
| Fig4 |
T |
A |
10: 41,161,670 (GRCm39) |
H31L |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,621,752 (GRCm39) |
D366G |
possibly damaging |
Het |
| Ift80 |
A |
G |
3: 68,892,787 (GRCm39) |
S134P |
probably damaging |
Het |
| Lacc1 |
A |
T |
14: 77,272,475 (GRCm39) |
V107D |
possibly damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,392,199 (GRCm39) |
Y2815H |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,307,998 (GRCm39) |
L481P |
probably damaging |
Het |
| Ltbp4 |
C |
A |
7: 27,034,870 (GRCm39) |
R97L |
unknown |
Het |
| Mbnl1 |
G |
A |
3: 60,437,090 (GRCm39) |
W13* |
probably null |
Het |
| Neb |
T |
A |
2: 52,157,729 (GRCm39) |
T2293S |
probably benign |
Het |
| Nrg3 |
CCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGC |
14: 39,194,654 (GRCm39) |
|
probably benign |
Het |
| Odr4 |
T |
G |
1: 150,258,020 (GRCm39) |
K205T |
possibly damaging |
Het |
| Or56b1 |
A |
T |
7: 104,285,657 (GRCm39) |
T259S |
probably benign |
Het |
| Or5v1 |
A |
G |
17: 37,809,676 (GRCm39) |
I45V |
probably benign |
Het |
| Or8a1b |
T |
A |
9: 37,622,846 (GRCm39) |
H243L |
probably damaging |
Het |
| Pcmt1 |
G |
A |
10: 7,515,825 (GRCm39) |
P221L |
possibly damaging |
Het |
| Plag1 |
T |
A |
4: 3,905,648 (GRCm39) |
D14V |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,049,048 (GRCm39) |
S28P |
probably benign |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,522 (GRCm39) |
I1232F |
possibly damaging |
Het |
| Rpl18a |
C |
T |
8: 71,348,341 (GRCm39) |
G114D |
possibly damaging |
Het |
| Rtel1 |
A |
G |
2: 180,995,897 (GRCm39) |
D927G |
possibly damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,798,734 (GRCm39) |
C395Y |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,048,565 (GRCm39) |
T361S |
probably benign |
Het |
| Slc35f5 |
C |
T |
1: 125,488,994 (GRCm39) |
R5* |
probably null |
Het |
| Slc37a4 |
G |
A |
9: 44,310,759 (GRCm39) |
C121Y |
probably damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Tc2n |
C |
T |
12: 101,615,376 (GRCm39) |
W483* |
probably null |
Het |
| Tex101 |
G |
A |
7: 24,367,791 (GRCm39) |
T187I |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,610,441 (GRCm39) |
L303P |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,647,827 (GRCm39) |
Y329N |
probably damaging |
Het |
| Tshz1 |
C |
A |
18: 84,032,149 (GRCm39) |
S753I |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,546,264 (GRCm39) |
T32383I |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,544 (GRCm39) |
E234G |
probably damaging |
Het |
| Vmn1r120 |
T |
A |
7: 20,787,557 (GRCm39) |
R51S |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,576,172 (GRCm39) |
T348S |
probably benign |
Het |
| Zdhhc21 |
T |
C |
4: 82,753,714 (GRCm39) |
Y158C |
probably damaging |
Het |
| Zfp236 |
C |
T |
18: 82,658,366 (GRCm39) |
G632D |
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 |
|
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 |
|
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'- CTGAACTATGGGGACGTTGC -3'
(R):5'- AGCAACCCTGGATCTGTTACTTC -3'
Sequencing Primer
(F):5'- AGTTTCACAGATTTTCCTCATGTGTG -3'
(R):5'- ATTACTTGACTCCTCTTCCCCAGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation