Mutagenetix > Incidental Mutation

Incidental Mutation 'R7694:Lcp2'

593560

Institutional Source

Beutler Lab

Gene Symbol

Lcp2

Ensembl Gene

ENSMUSG00000002699

Gene Name

lymphocyte cytosolic protein 2

Synonyms

m1Khoe, SLP-76, SLP76, twm

MMRRC Submission

045757-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7694 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33996928-34042281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34000924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 36 (V36L)

Ref Sequence

ENSEMBL: ENSMUSP00000056621 (fasta)

Gene Model

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

AlphaFold

Q60787

Predicted Effect

probably benign
Transcript: ENSMUST00000052413
AA Change: V36L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056621
Gene: ENSMUSG00000002699
AA Change: V36L

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

SMART Domains

Protein: ENSMUSP00000104952
Gene: ENSMUSG00000002699
AA Change: V36L

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	G	17: 14,109,144 (GRCm39)	S1571A	probably damaging	Het
Agbl1	C	A	7: 76,348,513 (GRCm39)	A870D	unknown	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Ankrd55	T	C	13: 112,504,498 (GRCm39)	Y415H	probably damaging	Het
Cd69	G	A	6: 129,247,008 (GRCm39)	R111C	possibly damaging	Het
Cdh26	A	T	2: 178,101,896 (GRCm39)	T172S	probably damaging	Het
Cflar	T	A	1: 58,791,966 (GRCm39)	V423E		Het
Cgrrf1	A	C	14: 47,091,415 (GRCm39)	Q313P	possibly damaging	Het
Chga	G	A	12: 102,527,606 (GRCm39)	A87T	probably benign	Het
Chrna4	T	A	2: 180,660,386 (GRCm39)	D102V		Het
Cpvl	A	T	6: 53,909,502 (GRCm39)	Y211*	probably null	Het
Cyp26a1	G	A	19: 37,689,512 (GRCm39)	D403N	possibly damaging	Het
Dchs2	T	C	3: 83,036,789 (GRCm39)	L512P	probably damaging	Het
Dll3	A	C	7: 28,001,170 (GRCm39)	M1R	probably null	Het
Dnah12	A	G	14: 26,503,337 (GRCm39)	T1564A	probably damaging	Het
Efhb	A	G	17: 53,707,836 (GRCm39)	S776P	probably damaging	Het
Eml5	T	C	12: 98,758,822 (GRCm39)	S1831G	probably damaging	Het
Fat1	G	T	8: 45,441,967 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,632,375 (GRCm39)	K1255E	probably benign	Het
Fitm2	C	T	2: 163,311,892 (GRCm39)	C107Y	probably damaging	Het
Gdpd4	T	C	7: 97,621,146 (GRCm39)	V153A	probably benign	Het
Ggnbp2	A	G	11: 84,751,539 (GRCm39)	V87A	possibly damaging	Het
Glb1l	G	T	1: 75,178,436 (GRCm39)	A334E	probably damaging	Het
Gnas	T	G	2: 174,142,005 (GRCm39)	L784R	probably damaging	Het
Gtf2i	C	T	5: 134,311,659 (GRCm39)	E223K	probably damaging	Het
H2-M10.5	T	C	17: 37,084,641 (GRCm39)	Y122H	probably damaging	Het
Hikeshi	G	A	7: 89,579,554 (GRCm39)	Q6*	probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Irak2	A	C	6: 113,667,859 (GRCm39)	D528A	probably damaging	Het
Lcn2	A	G	2: 32,278,042 (GRCm39)	C17R	unknown	Het
Lin7c	T	C	2: 109,726,617 (GRCm39)	S89P	probably benign	Het
Lrrc37a	C	T	11: 103,395,204 (GRCm39)	A74T	probably benign	Het
Lrrtm3	T	A	10: 63,923,818 (GRCm39)	M450L	probably benign	Het
Lsm11	C	T	11: 45,824,768 (GRCm39)	R253Q	probably benign	Het
Map9	A	T	3: 82,266,290 (GRCm39)		probably benign	Het
Mmp2	T	A	8: 93,558,358 (GRCm39)	D142E	possibly damaging	Het
Nrn1l	A	T	8: 106,621,430 (GRCm39)	T127S	probably damaging	Het
Or14c46	T	C	7: 85,918,983 (GRCm39)	T5A	probably damaging	Het
Pelp1	G	A	11: 70,285,585 (GRCm39)	T761I	probably damaging	Het
Pmm2	T	A	16: 8,463,254 (GRCm39)	V63E	probably damaging	Het
Ptprb	T	A	10: 116,208,853 (GRCm39)	L1942H	probably damaging	Het
Ptprk	T	A	10: 28,465,366 (GRCm39)	C1350S	possibly damaging	Het
Rnf44	A	G	13: 54,829,841 (GRCm39)	V381A	probably damaging	Het
Robo3	G	A	9: 37,329,816 (GRCm39)	P1167S	probably benign	Het
Ryk	A	G	9: 102,775,979 (GRCm39)	E489G	probably damaging	Het
Satb2	T	A	1: 56,910,683 (GRCm39)	I321L	probably benign	Het
Sh2b1	A	T	7: 126,066,929 (GRCm39)	V655E	probably benign	Het
Slc16a12	G	A	19: 34,648,035 (GRCm39)	T486M	probably damaging	Het
Slc34a1	G	T	13: 55,561,221 (GRCm39)	R562L	probably benign	Het
Slc4a9	A	G	18: 36,669,902 (GRCm39)	E779G	probably damaging	Het
Strc	C	A	2: 121,207,577 (GRCm39)	C598F	probably damaging	Het
Stxbp6	A	T	12: 44,948,810 (GRCm39)	F100I	probably damaging	Het
Tap2	A	G	17: 34,424,671 (GRCm39)	T135A	probably benign	Het
Tmcc1	G	A	6: 116,110,805 (GRCm39)	P159S		Het
Tmem106b	T	A	6: 13,078,105 (GRCm39)	M100K	probably benign	Het
Ttn	T	A	2: 76,578,039 (GRCm39)	T24285S	probably damaging	Het
Vmn1r116	G	A	7: 20,606,337 (GRCm39)	V53M	possibly damaging	Het
Zar1	A	T	5: 72,738,193 (GRCm39)	S70T	probably benign	Het
Zfp235	C	T	7: 23,841,525 (GRCm39)	T648M	probably benign	Het
Zfp937	C	T	2: 150,081,268 (GRCm39)	H433Y	probably 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
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
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'- GGACTAGAGTGCACAGTTTCTC -3'
(R):5'- CAAAAGGCTTTGTGGAGGC -3'

Sequencing Primer
(F):5'- GAGTGCACAGTTTCTCTATTTCAG -3'
(R):5'- GGCATTGACCACAGACATTG -3'

Posted On

2019-11-12