Incidental Mutation 'IGL02228:Lcp2'
ID 285373
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) question?
Stock # IGL02228
Quality Score
Status
Chromosome 11
Chromosomal Location 33996928-34042281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33997424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 24 (F24S)
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: F24S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056621
Gene: ENSMUSG00000002699
AA Change: F24S

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000109329
AA Change: F24S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104952
Gene: ENSMUSG00000002699
AA Change: F24S

DomainStartEndE-ValueType
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,063,738 (GRCm39) V282A probably benign Het
Acsm5 A G 7: 119,131,089 (GRCm39) D169G probably damaging Het
Adam8 C T 7: 139,568,719 (GRCm39) probably null Het
Agpat1 T C 17: 34,829,536 (GRCm39) F37L possibly damaging Het
Asah2 A T 19: 31,994,114 (GRCm39) D410E probably benign Het
Atg2a T A 19: 6,296,830 (GRCm39) V378D probably benign Het
Atp1a4 T C 1: 172,082,452 (GRCm39) Y130C possibly damaging Het
Bnc2 T C 4: 84,211,313 (GRCm39) H419R possibly damaging Het
Capza3 A G 6: 139,987,641 (GRCm39) D80G probably benign Het
Col6a4 C T 9: 105,945,277 (GRCm39) D946N probably benign Het
Crat T C 2: 30,303,194 (GRCm39) H31R probably damaging Het
Dsc2 A G 18: 20,176,790 (GRCm39) V419A probably damaging Het
Ebf1 T C 11: 44,863,739 (GRCm39) V363A probably damaging Het
Lgmn G A 12: 102,361,973 (GRCm39) T376I probably benign Het
Lrrc8d C T 5: 105,959,730 (GRCm39) L47F probably benign Het
Mier1 T A 4: 102,988,259 (GRCm39) M44K possibly damaging Het
Ogfod1 C A 8: 94,789,615 (GRCm39) Q439K probably benign Het
Or6aa1 A C 7: 86,044,286 (GRCm39) I140S possibly damaging Het
Pcgf6 A C 19: 47,036,421 (GRCm39) F216C probably damaging Het
Pcnt C T 10: 76,225,308 (GRCm39) R1732K probably benign Het
Pramel17 T C 4: 101,694,055 (GRCm39) Y276C probably benign Het
Pramel31 A G 4: 144,089,231 (GRCm39) K183R probably damaging Het
Rbbp4 A T 4: 129,211,543 (GRCm39) H370Q probably damaging Het
Reln A G 5: 22,109,729 (GRCm39) V3127A probably damaging Het
Rttn T A 18: 89,060,355 (GRCm39) V1019E probably damaging Het
Serpina9 C T 12: 103,974,859 (GRCm39) R98Q probably benign Het
Slc16a7 C A 10: 125,066,667 (GRCm39) G324V probably damaging Het
Slc22a3 A G 17: 12,678,697 (GRCm39) L209P probably damaging Het
Tet1 T A 10: 62,649,513 (GRCm39) T1695S probably damaging Het
Tulp3 G A 6: 128,311,448 (GRCm39) T74M probably damaging Het
Ube3a A G 7: 58,938,144 (GRCm39) probably benign Het
Ufl1 A T 4: 25,281,686 (GRCm39) S23T probably benign Het
Unc80 A G 1: 66,647,587 (GRCm39) E1509G possibly damaging Het
Wnk2 A T 13: 49,210,416 (GRCm39) I1801N probably damaging Het
Other mutations in Lcp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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