Mutagenetix > Incidental Mutation

Incidental Mutation 'R5090:Lcp2'

387704

Institutional Source

Beutler Lab

Gene Symbol

Lcp2

Ensembl Gene

ENSMUSG00000002699

Gene Name

lymphocyte cytosolic protein 2

Synonyms

m1Khoe, SLP-76, SLP76, twm

MMRRC Submission

042679-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33996928-34042281 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 34039725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 508 (Y508*)

Ref Sequence

ENSEMBL: ENSMUSP00000104952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052413] [ENSMUST00000109329] [ENSMUST00000223852] [ENSMUST00000224226]

AlphaFold

Q60787

Predicted Effect

probably benign
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
AA Change: Y508*

SMART Domains

Protein: ENSMUSP00000104952
Gene: ENSMUSG00000002699
AA Change: Y508*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146318

Predicted Effect

probably benign
Transcript: ENSMUST00000223852

Predicted Effect

probably benign
Transcript: ENSMUST00000224226

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,984,422 (GRCm39)	S1168G	probably damaging	Het
Acsf2	A	T	11: 94,462,095 (GRCm39)		probably null	Het
Ankk1	G	T	9: 49,333,063 (GRCm39)	S140R	probably damaging	Het
Ash1l	G	T	3: 88,960,184 (GRCm39)	K2305N	probably damaging	Het
Asnsd1	C	T	1: 53,391,563 (GRCm39)		probably benign	Het
Atxn7l1	T	C	12: 33,376,077 (GRCm39)	S51P	probably damaging	Het
Ccdc88c	A	G	12: 100,920,439 (GRCm39)	L394P	probably damaging	Het
Cd200r1	T	A	16: 44,609,924 (GRCm39)	S48T	possibly damaging	Het
Cemip	T	C	7: 83,591,343 (GRCm39)	E1243G	probably damaging	Het
Cep192	T	A	18: 67,993,617 (GRCm39)	H1977Q	possibly damaging	Het
Cep250	T	C	2: 155,818,324 (GRCm39)	L833P	probably damaging	Het
Chd9	C	A	8: 91,753,462 (GRCm39)	Y1818*	probably null	Het
Clca3a1	C	A	3: 144,443,633 (GRCm39)	V706L	probably benign	Het
Cntln	T	C	4: 84,865,830 (GRCm39)	V162A	probably damaging	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Cux1	T	A	5: 136,342,054 (GRCm39)	N446I	possibly damaging	Het
Dlg1	G	T	16: 31,656,902 (GRCm39)	G599W	probably damaging	Het
Dock7	C	T	4: 98,879,648 (GRCm39)	V969I	probably benign	Het
Ephb3	T	C	16: 21,033,237 (GRCm39)	C74R	probably damaging	Het
Fads6	T	A	11: 115,187,480 (GRCm39)	T72S	probably benign	Het
Fra10ac1	C	T	19: 38,202,873 (GRCm39)	R110Q	probably damaging	Het
Gdf3	T	A	6: 122,586,713 (GRCm39)	L71F	probably benign	Het
Gm6685	A	G	11: 28,289,253 (GRCm39)	Y188H	probably benign	Het
Gm6981	A	C	9: 51,914,142 (GRCm39)		noncoding transcript	Het
Gnpda1	T	C	18: 38,465,146 (GRCm39)	T157A	probably damaging	Het
Grap2	A	C	15: 80,522,683 (GRCm39)	N70H	possibly damaging	Het
Gvin3	T	A	7: 106,200,109 (GRCm39)		noncoding transcript	Het
Hdac5	G	A	11: 102,088,539 (GRCm39)	R887C	probably damaging	Het
Hectd3	T	A	4: 116,857,435 (GRCm39)		probably benign	Het
Hmgcr	T	C	13: 96,787,098 (GRCm39)	K162E	probably benign	Het
Inpp5e	A	T	2: 26,289,383 (GRCm39)		probably null	Het
Kifap3	A	G	1: 163,683,645 (GRCm39)	D442G	possibly damaging	Het
Lama3	A	G	18: 12,675,459 (GRCm39)	T1015A	possibly damaging	Het
Map1b	G	T	13: 99,566,534 (GRCm39)	Y2062*	probably null	Het
Mipep	A	G	14: 61,039,748 (GRCm39)	D259G	possibly damaging	Het
Mmp2	T	C	8: 93,579,202 (GRCm39)	F97S	probably damaging	Het
Mrpl18	A	C	17: 13,132,697 (GRCm39)	M144R	probably damaging	Het
Nek9	A	G	12: 85,376,616 (GRCm39)		probably null	Het
Nmral1	A	T	16: 4,532,395 (GRCm39)	Y139N	probably damaging	Het
Notch4	T	C	17: 34,799,894 (GRCm39)	C952R	probably damaging	Het
Nsf	T	C	11: 103,801,404 (GRCm39)	N204D	probably benign	Het
P2rx4	A	T	5: 122,863,118 (GRCm39)	D197V	probably damaging	Het
Pak5	A	T	2: 135,929,338 (GRCm39)	I615N	probably damaging	Het
Parp10	T	C	15: 76,125,925 (GRCm39)	D421G	probably damaging	Het
Pcdha6	A	T	18: 37,101,770 (GRCm39)	D321V	probably benign	Het
Pkhd1	T	A	1: 20,270,981 (GRCm39)	I3191F	probably damaging	Het
Psmd4	T	C	3: 94,942,559 (GRCm39)	N7S	possibly damaging	Het
Ptprq	A	G	10: 107,361,950 (GRCm39)	V2084A	probably damaging	Het
Rab3gap1	A	G	1: 127,843,415 (GRCm39)	E263G	probably benign	Het
Rbm5	A	G	9: 107,637,511 (GRCm39)		probably benign	Het
Sacs	T	C	14: 61,442,702 (GRCm39)	F1583L	probably damaging	Het
Sel1l3	G	T	5: 53,357,388 (GRCm39)	H201Q	probably benign	Het
Shoc1	T	C	4: 59,111,108 (GRCm39)	T55A	unknown	Het
Tdpoz3	T	A	3: 93,733,870 (GRCm39)	W182R	possibly damaging	Het
Trim55	A	G	3: 19,725,771 (GRCm39)	N313S	probably benign	Het
Usp17lb	A	T	7: 104,490,290 (GRCm39)	D212E	probably benign	Het
Xirp2	A	G	2: 67,355,814 (GRCm39)	E3525G	possibly damaging	Het
Zfp236	T	C	18: 82,637,006 (GRCm39)	T1379A	probably benign	Het
Zfp553	A	T	7: 126,834,659 (GRCm39)	E71D	probably damaging	Het
Znrf1	T	G	8: 112,265,035 (GRCm39)	F21V	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGCTCTAAGAAGACAGCG -3'
(R):5'- CTCCTGACTGGTGTGCACAC -3'

Sequencing Primer
(F):5'- GAACAATCCGTATGTCCTCATGGTG -3'
(R):5'- GCTCAGGCCTAAGCAGCAC -3'

Posted On

2016-06-06