Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02228:Lcp2'

285373

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lcp2

Ensembl Gene

ENSMUSG00000002699

Gene Name

lymphocyte cytosolic protein 2

Synonyms

twm, SLP76, SLP-76

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02228

Quality Score

Status

Chromosome

Chromosomal Location

34046920-34092295 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34047424 bp

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]

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

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 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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	C	12: 84,016,964	V282A	probably benign	Het
Acsm5	A	G	7: 119,531,866	D169G	probably damaging	Het
Adam8	C	T	7: 139,988,806		probably null	Het
Agpat1	T	C	17: 34,610,562	F37L	possibly damaging	Het
Asah2	A	T	19: 32,016,714	D410E	probably benign	Het
Atg2a	T	A	19: 6,246,800	V378D	probably benign	Het
Atp1a4	T	C	1: 172,254,885	Y130C	possibly damaging	Het
B020004J07Rik	T	C	4: 101,836,858	Y276C	probably benign	Het
Bnc2	T	C	4: 84,293,076	H419R	possibly damaging	Het
Capza3	A	G	6: 140,041,915	D80G	probably benign	Het
Col6a4	C	T	9: 106,068,078	D946N	probably benign	Het
Crat	T	C	2: 30,413,182	H31R	probably damaging	Het
Dsc2	A	G	18: 20,043,733	V419A	probably damaging	Het
Ebf1	T	C	11: 44,972,912	V363A	probably damaging	Het
Gm13119	A	G	4: 144,362,661	K183R	probably damaging	Het
Lgmn	G	A	12: 102,395,714	T376I	probably benign	Het
Lrrc8d	C	T	5: 105,811,864	L47F	probably benign	Het
Mier1	T	A	4: 103,131,062	M44K	possibly damaging	Het
Ogfod1	C	A	8: 94,062,987	Q439K	probably benign	Het
Olfr303	A	C	7: 86,395,078	I140S	possibly damaging	Het
Pcgf6	A	C	19: 47,047,982	F216C	probably damaging	Het
Pcnt	C	T	10: 76,389,474	R1732K	probably benign	Het
Rbbp4	A	T	4: 129,317,750	H370Q	probably damaging	Het
Reln	A	G	5: 21,904,731	V3127A	probably damaging	Het
Rttn	T	A	18: 89,042,231	V1019E	probably damaging	Het
Serpina9	C	T	12: 104,008,600	R98Q	probably benign	Het
Slc16a7	C	A	10: 125,230,798	G324V	probably damaging	Het
Slc22a3	A	G	17: 12,459,810	L209P	probably damaging	Het
Tet1	T	A	10: 62,813,734	T1695S	probably damaging	Het
Tulp3	G	A	6: 128,334,485	T74M	probably damaging	Het
Ube3a	A	G	7: 59,288,396		probably benign	Het
Ufl1	A	T	4: 25,281,686	S23T	probably benign	Het
Unc80	A	G	1: 66,608,428	E1509G	possibly damaging	Het
Wnk2	A	T	13: 49,056,940	I1801N	probably damaging	Het

Other mutations in Lcp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:Lcp2	APN	11	34047345	start gained	probably benign
IGL01730:Lcp2	APN	11	34050943	missense	possibly damaging	0.91
IGL02174:Lcp2	APN	11	34050966	splice site	probably benign
IGL02814:Lcp2	APN	11	34071033	missense	probably damaging	1.00
R0142:Lcp2	UTSW	11	34082418	missense	probably damaging	0.97
R0277:Lcp2	UTSW	11	34054322	missense	probably damaging	1.00
R0281:Lcp2	UTSW	11	34069854	splice site	probably benign
R0323:Lcp2	UTSW	11	34054322	missense	probably damaging	1.00
R0437:Lcp2	UTSW	11	34087229	missense	probably benign	0.00
R0632:Lcp2	UTSW	11	34082426	missense	possibly damaging	0.87
R1479:Lcp2	UTSW	11	34075068	missense	probably benign	0.01
R1570:Lcp2	UTSW	11	34089601	missense	probably benign	0.07
R1744:Lcp2	UTSW	11	34069911	splice site	probably null
R2212:Lcp2	UTSW	11	34070995	missense	probably benign	0.14
R2910:Lcp2	UTSW	11	34068970	splice site	probably null
R2911:Lcp2	UTSW	11	34068970	splice site	probably null
R3196:Lcp2	UTSW	11	34090670	missense	probably benign	0.05
R4012:Lcp2	UTSW	11	34068439	missense	probably damaging	1.00
R4411:Lcp2	UTSW	11	34087173	unclassified	probably benign
R4417:Lcp2	UTSW	11	34050917	missense	probably benign	0.27
R4423:Lcp2	UTSW	11	34078226	intron	probably benign
R4718:Lcp2	UTSW	11	34070992	missense	probably benign	0.09
R5090:Lcp2	UTSW	11	34089725	nonsense	probably null
R6347:Lcp2	UTSW	11	34082501	missense	probably benign	0.10
R7315:Lcp2	UTSW	11	34069906	critical splice donor site	probably null
R7694:Lcp2	UTSW	11	34050924	missense	probably benign	0.16
R7910:Lcp2	UTSW	11	34088061	missense	probably damaging	1.00
R8325:Lcp2	UTSW	11	34082394	missense	probably benign	0.34
R8435:Lcp2	UTSW	11	34054316	missense	probably damaging	1.00
R8709:Lcp2	UTSW	11	34054354	critical splice donor site	probably benign

Posted On

2015-04-16