Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Lcp2'

567898

Institutional Source

Beutler Lab

Gene Symbol

Lcp2

Ensembl Gene

ENSMUSG00000002699

Gene Name

lymphocyte cytosolic protein 2

Synonyms

m1Khoe, SLP-76, SLP76, twm

MMRRC Submission

045368-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33996928-34042281 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 34019906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056621 (fasta)

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 119,893,341 (GRCm39)	I1264L	probably benign	Het
Abcg8	C	A	17: 85,004,142 (GRCm39)	D484E	probably damaging	Het
Abhd13	T	A	8: 10,037,970 (GRCm39)	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139 (GRCm38)	D60G	probably damaging	Het
Acp3	A	G	9: 104,193,423 (GRCm39)		probably null	Het
Agpat4	C	T	17: 12,429,185 (GRCm39)	R146C	probably damaging	Het
Antxrl	T	C	14: 33,793,504 (GRCm39)	S411P	unknown	Het
B4galt5	A	G	2: 167,143,296 (GRCm39)	V376A	probably damaging	Het
Camk1d	T	C	2: 5,344,041 (GRCm39)	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,905,420 (GRCm39)	R191H	possibly damaging	Het
Cd93	A	G	2: 148,284,461 (GRCm39)	V295A	probably damaging	Het
Cdc27	G	A	11: 104,406,270 (GRCm39)	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,547,476 (GRCm39)	Y1221H	unknown	Het
Col24a1	G	A	3: 145,137,625 (GRCm39)	S896N	possibly damaging	Het
Crppa	A	G	12: 36,440,373 (GRCm39)	T94A	probably benign	Het
Cst7	C	A	2: 150,412,503 (GRCm39)	P22Q	probably benign	Het
Dnah6	C	T	6: 73,061,743 (GRCm39)	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,656,423 (GRCm39)	A1588T	probably benign	Het
Dsg2	A	T	18: 20,712,217 (GRCm39)	I118F	probably damaging	Het
Eif1ad2	A	G	12: 87,786,473 (GRCm39)	E128G	unknown	Het
Eme2	G	A	17: 25,113,840 (GRCm39)	R62W	probably damaging	Het
Epha3	A	T	16: 63,372,972 (GRCm39)	D910E	probably benign	Het
Ext1	T	C	15: 52,936,783 (GRCm39)	D654G	probably damaging	Het
Fnip2	A	G	3: 79,413,512 (GRCm39)		probably null	Het
Gon4l	T	A	3: 88,802,486 (GRCm39)	H1032Q	probably benign	Het
Kitl	G	A	10: 99,851,974 (GRCm39)	R31H	unknown	Het
Lrp2	T	C	2: 69,322,166 (GRCm39)	H1921R	probably damaging	Het
Lvrn	A	G	18: 47,010,051 (GRCm39)	T400A	probably benign	Het
Mak16	G	A	8: 31,654,766 (GRCm39)	R143*	probably null	Het
Mettl23	A	G	11: 116,739,928 (GRCm39)	I159V	probably benign	Het
Mr1	T	C	1: 155,005,036 (GRCm39)	N335D	probably benign	Het
Muc2	T	C	7: 141,276,645 (GRCm39)	C12R	probably damaging	Het
Myom1	T	C	17: 71,387,892 (GRCm39)		probably null	Het
Nav2	A	G	7: 49,198,037 (GRCm39)	N33S	possibly damaging	Het
Ninl	A	G	2: 150,791,970 (GRCm39)	V851A	probably benign	Het
Nmt1	A	G	11: 102,951,009 (GRCm39)	N367D	probably benign	Het
Noc2l	T	G	4: 156,325,817 (GRCm39)	S354R	probably damaging	Het
Opn1sw	A	T	6: 29,379,362 (GRCm39)	I214N	probably damaging	Het
Or12d14-ps1	G	T	17: 37,673,551 (GRCm39)	C181F	probably damaging	Het
Or13e8	T	A	4: 43,696,961 (GRCm39)	I71F	probably damaging	Het
Or14c40	T	C	7: 86,313,445 (GRCm39)	S192P	probably damaging	Het
Or4k52	T	C	2: 111,611,004 (GRCm39)	V113A	probably damaging	Het
Or5ac16	A	G	16: 59,022,496 (GRCm39)	F98L	probably benign	Het
Or7e169	G	T	9: 19,757,131 (GRCm39)	S261R	probably damaging	Het
Or8a1	T	C	9: 37,641,872 (GRCm39)	M136V	probably benign	Het
Or8b9	A	T	9: 37,766,543 (GRCm39)	Y143F	probably benign	Het
Papss2	T	C	19: 32,616,625 (GRCm39)	V217A	possibly damaging	Het
Pes1	A	G	11: 3,926,085 (GRCm39)	I291M	probably benign	Het
Ptprb	T	A	10: 116,198,284 (GRCm39)	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,624,504 (GRCm39)	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,761,477 (GRCm39)	M268V	probably benign	Het
Rbl2	A	T	8: 91,802,640 (GRCm39)	T154S	probably damaging	Het
Rgs1	A	G	1: 144,124,637 (GRCm39)		probably null	Het
Rpgrip1	C	T	14: 52,358,458 (GRCm39)	T188I	not run	Het
Rrp1b	T	A	17: 32,277,545 (GRCm39)	F608L	probably benign	Het
Sbp	C	T	17: 24,164,280 (GRCm39)	A154V	probably benign	Het
Scara3	C	T	14: 66,168,889 (GRCm39)	E243K	probably damaging	Het
Serpinb6b	A	T	13: 33,156,240 (GRCm39)	D110V	probably benign	Het
Skic2	T	A	17: 35,060,145 (GRCm39)	D875V	probably benign	Het
Slc2a4	G	C	11: 69,837,259 (GRCm39)	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,247,310 (GRCm39)	S462P	probably damaging	Het
Slc66a1	G	A	4: 139,029,181 (GRCm39)	T101M	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Srf	T	C	17: 46,862,720 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,155,642 (GRCm39)	V439A	probably benign	Het
Syt10	C	T	15: 89,698,541 (GRCm39)	D268N	probably damaging	Het
Tent5b	C	T	4: 133,214,395 (GRCm39)	T422I	probably damaging	Het
Terf2	T	C	8: 107,807,849 (GRCm39)	N242S	probably benign	Het
Tex15	A	G	8: 34,071,544 (GRCm39)	T2364A	probably benign	Het
Tgfbr2	A	T	9: 115,938,806 (GRCm39)	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,614,354 (GRCm39)	N837K	probably benign	Het
Trim67	T	A	8: 125,521,069 (GRCm39)	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,272,082 (GRCm39)	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,776,385 (GRCm39)	V1184E	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
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
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'- CTTGAAAGACCCAAGTCCAGAG -3'
(R):5'- CCACCTCTGTATTCATCAGGG -3'

Sequencing Primer
(F):5'- CTGGTGGGCTAAATCGTACTCAAC -3'
(R):5'- ATCAGGGAGCTCACTCATTTG -3'

Posted On

2019-06-26