Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Lcp2'

360748

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 #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

33996928-34042281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34021033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 130 (S130P)

Ref Sequence

ENSEMBL: ENSMUSP00000104952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052413] [ENSMUST00000109329]

AlphaFold

Q60787

Predicted Effect

probably damaging
Transcript: ENSMUST00000052413
AA Change: S130P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056621
Gene: ENSMUSG00000002699
AA Change: S130P

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: S130P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104952
Gene: ENSMUSG00000002699
AA Change: S130P

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,045,293 (GRCm39)	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,124,019 (GRCm39)	T1233A	probably benign	Het
Blnk	C	T	19: 40,950,873 (GRCm39)	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,706 (GRCm39)	E1083G	probably damaging	Het
Capn8	C	A	1: 182,426,336 (GRCm39)	L224M	probably damaging	Het
Cdh4	A	T	2: 179,422,267 (GRCm39)	E130D	probably benign	Het
Cgn	G	A	3: 94,681,550 (GRCm39)	T515M	probably benign	Het
Chrna10	C	T	7: 101,761,469 (GRCm39)	G374D	probably benign	Het
Chrnb1	T	A	11: 69,686,506 (GRCm39)	Y38F	probably damaging	Het
Cyld	A	G	8: 89,471,525 (GRCm39)	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,853,645 (GRCm39)	F443S	probably benign	Het
Dctn1	C	A	6: 83,166,896 (GRCm39)	A152E	probably damaging	Het
Eml4	T	A	17: 83,748,791 (GRCm39)	Y228*	probably null	Het
Fbln2	T	A	6: 91,242,839 (GRCm39)	C846*	probably null	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gart	T	C	16: 91,420,345 (GRCm39)	S833G	possibly damaging	Het
Gda	T	C	19: 21,405,839 (GRCm39)		probably null	Het
Gjb5	C	T	4: 127,249,355 (GRCm39)	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,315,558 (GRCm39)	K193E	probably damaging	Het
H4c14	C	A	3: 96,170,603 (GRCm39)	K6N	probably benign	Het
Ints1	C	T	5: 139,758,146 (GRCm39)	E244K	possibly damaging	Het
Kat14	G	A	2: 144,244,383 (GRCm39)	S412N	probably benign	Het
Kcnn3	A	T	3: 89,428,482 (GRCm39)	H236L	possibly damaging	Het
Kif15	T	A	9: 122,832,705 (GRCm39)	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,655,855 (GRCm39)	T7A	possibly damaging	Het
Ldha	T	A	7: 46,500,315 (GRCm39)	Y133*	probably null	Het
Lrp2	A	G	2: 69,337,080 (GRCm39)	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,544,313 (GRCm39)	V37D	probably damaging	Het
Mep1a	T	A	17: 43,788,112 (GRCm39)	H648L	probably benign	Het
Mmp25	C	T	17: 23,858,736 (GRCm39)	G272R	probably damaging	Het
Myh15	A	G	16: 48,965,801 (GRCm39)		probably benign	Het
Myl3	G	T	9: 110,597,059 (GRCm39)	E140*	probably null	Het
Nlrp4f	A	G	13: 65,332,856 (GRCm39)	S809P	probably damaging	Het
Nrde2	T	C	12: 100,110,394 (GRCm39)	I207M	probably null	Het
Or13a26	T	C	7: 140,285,046 (GRCm39)	L294P	probably damaging	Het
Or2y8	C	T	11: 52,035,637 (GRCm39)	C240Y	probably damaging	Het
Or5p54	T	C	7: 107,553,977 (GRCm39)	I43T	probably benign	Het
Paics	T	G	5: 77,110,320 (GRCm39)	V245G	probably damaging	Het
Pank1	A	G	19: 34,818,255 (GRCm39)	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,674,416 (GRCm39)	C167G	probably damaging	Het
Picalm	C	A	7: 89,840,957 (GRCm39)	T542K	possibly damaging	Het
Piezo1	A	G	8: 123,224,954 (GRCm39)	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,289,353 (GRCm39)	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,852,582 (GRCm39)	T634S	probably benign	Het
Rab32	T	C	10: 10,422,171 (GRCm39)	T183A	probably benign	Het
Rad18	T	C	6: 112,621,583 (GRCm39)	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,975 (GRCm39)	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,725 (GRCm39)	E101G	probably benign	Het
Rsf1	T	C	7: 97,310,434 (GRCm39)	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,339,588 (GRCm39)	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387 (GRCm39)	C330Y	probably benign	Het
Spock1	A	T	13: 57,735,486 (GRCm39)	V101E	probably damaging	Het
Sympk	T	A	7: 18,787,198 (GRCm39)	W1029R	probably damaging	Het
Syne2	T	A	12: 75,992,150 (GRCm39)	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719 (GRCm39)	Y199N	probably damaging	Het
Trim10	T	A	17: 37,188,228 (GRCm39)	C481*	probably null	Het
Vmn2r102	A	G	17: 19,898,170 (GRCm39)	E395G	probably damaging	Het
Wfs1	A	C	5: 37,125,013 (GRCm39)	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,044,193 (GRCm39)	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,796,775 (GRCm39)	H721R	probably damaging	Het
Zfta	C	A	19: 7,397,787 (GRCm39)	N111K	possibly 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
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

2015-12-18