Mutagenetix > Incidental Mutation

Incidental Mutation 'R7698:Lcp1'

593806

Institutional Source

Beutler Lab

Gene Symbol

Lcp1

Ensembl Gene

ENSMUSG00000021998

Gene Name

lymphocyte cytosolic protein 1

Synonyms

L-fimbrin, L-plastin, D14Ertd310e, Pls2

MMRRC Submission

045759-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75368545-75468282 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 75443651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 222 (Y222*)

Ref Sequence

ENSEMBL: ENSMUSP00000121201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124499] [ENSMUST00000131802] [ENSMUST00000145303]

AlphaFold

Q61233

Predicted Effect

probably null
Transcript: ENSMUST00000124499
AA Change: Y222*

SMART Domains

Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: Y222*

Domain	Start	End	E-Value	Type
EFh	13	41	6.91e-5	SMART
EFh	53	81	7.7e-3	SMART
CH	122	234	1.15e-24	SMART
CH	266	373	1.51e-19	SMART
CH	396	501	1.87e-24	SMART
CH	517	622	8.55e-19	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000131802
AA Change: Y222*

SMART Domains

Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: Y222*

Domain	Start	End	E-Value	Type
EFh	13	41	6.91e-5	SMART
EFh	53	81	7.7e-3	SMART
CH	122	234	1.15e-24	SMART
CH	266	373	1.51e-19	SMART
CH	396	501	1.87e-24	SMART
CH	517	622	8.55e-19	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000145303
AA Change: Y222*

SMART Domains

Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: Y222*

Domain	Start	End	E-Value	Type
EFh	13	41	6.91e-5	SMART
EFh	53	81	7.7e-3	SMART
CH	122	234	1.15e-24	SMART
CH	266	373	1.51e-19	SMART
CH	396	501	1.87e-24	SMART
CH	517	622	8.55e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to S. aureus infection, defective neutrophil killing of S. aureus, and impaired adhesion-dependent respiratory bursts in neutrophils. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	C	A	14: 33,774,570 (GRCm39)	L140F	unknown	Het
Actn1	T	C	12: 80,221,311 (GRCm39)	T581A	probably benign	Het
Ak9	T	C	10: 41,224,072 (GRCm39)	L495S		Het
Aldh5a1	T	C	13: 25,095,731 (GRCm39)	D462G	probably damaging	Het
Amz2	A	G	11: 109,319,833 (GRCm39)	D73G	probably damaging	Het
Ank2	A	G	3: 126,825,860 (GRCm39)	Y361H	probably benign	Het
Atp8b1	A	G	18: 64,704,093 (GRCm39)	Y342H	probably benign	Het
Atp8b5	C	T	4: 43,366,735 (GRCm39)	T833I	probably benign	Het
Camkk2	A	G	5: 122,884,482 (GRCm39)	I313T	probably damaging	Het
Cdk18	T	C	1: 132,050,116 (GRCm39)	T20A	probably damaging	Het
Cenpf	A	T	1: 189,394,269 (GRCm39)	C479S	probably benign	Het
Cfap221	C	A	1: 119,889,659 (GRCm39)	E192*	probably null	Het
Cfap44	C	T	16: 44,254,149 (GRCm39)	H958Y	probably damaging	Het
Cic	A	T	7: 24,972,597 (GRCm39)	Q776L	possibly damaging	Het
Cldn17	C	A	16: 88,303,244 (GRCm39)	G162*	probably null	Het
Col19a1	T	A	1: 24,351,159 (GRCm39)	Y748F	probably benign	Het
Col27a1	C	T	4: 63,143,955 (GRCm39)	P548S	possibly damaging	Het
Cracdl	T	G	1: 37,664,452 (GRCm39)	E482A	probably benign	Het
Ctsr	T	A	13: 61,310,381 (GRCm39)	M92L	probably benign	Het
Cyp2d12	T	C	15: 82,443,171 (GRCm39)	V360A	probably benign	Het
Defa34	G	T	8: 22,156,645 (GRCm39)	C91F	probably damaging	Het
Dennd2c	G	A	3: 103,072,359 (GRCm39)	V815I	possibly damaging	Het
Dlgap4	C	T	2: 156,591,015 (GRCm39)	Q734*	probably null	Het
Dph1	A	T	11: 75,081,267 (GRCm39)	S7T	probably benign	Het
Dpp8	T	C	9: 64,949,618 (GRCm39)	V121A	probably benign	Het
Dst	G	A	1: 34,229,468 (GRCm39)	G2354S	probably benign	Het
Duox2	A	T	2: 122,111,245 (GRCm39)	L1453Q	probably damaging	Het
Ecpas	C	G	4: 58,832,660 (GRCm39)	C900S	unknown	Het
Exosc10	T	A	4: 148,642,955 (GRCm39)	S11T	probably benign	Het
Fetub	A	G	16: 22,758,059 (GRCm39)	T281A	probably benign	Het
Flii	A	T	11: 60,610,918 (GRCm39)	W504R	probably damaging	Het
Gm5093	T	C	17: 46,750,866 (GRCm39)	R54G	possibly damaging	Het
Gmcl1	T	C	6: 86,684,397 (GRCm39)	D375G	probably benign	Het
Hikeshi	A	T	7: 89,572,889 (GRCm39)	N101K	probably benign	Het
Hmcn2	T	C	2: 31,313,165 (GRCm39)	V3458A	probably damaging	Het
Hspa2	A	G	12: 76,452,083 (GRCm39)	N259S	possibly damaging	Het
Irf6	T	C	1: 192,844,075 (GRCm39)	I110T	probably damaging	Het
Kcnj8	T	A	6: 142,511,479 (GRCm39)	H376L	probably damaging	Het
Kdm6b	G	A	11: 69,296,807 (GRCm39)	P487S	probably benign	Het
Manea	T	C	4: 26,327,763 (GRCm39)	D426G	probably damaging	Het
Map3k20	G	T	2: 72,195,025 (GRCm39)	E101*	probably null	Het
Map3k20	C	G	2: 72,268,658 (GRCm39)	S555C	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myo6	C	T	9: 80,124,938 (GRCm39)	P6S	unknown	Het
Myoc	A	T	1: 162,467,014 (GRCm39)	Q61L	probably damaging	Het
N4bp2	T	A	5: 65,965,500 (GRCm39)	M1183K	probably benign	Het
Or52e7	T	A	7: 104,685,114 (GRCm39)	H236Q	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,404 (GRCm39)	F26S	probably damaging	Het
Or5b21	T	C	19: 12,840,077 (GRCm39)	S313P	possibly damaging	Het
Or8b40	T	A	9: 38,027,188 (GRCm39)	L37*	probably null	Het
Osbpl11	C	G	16: 33,054,817 (GRCm39)	N633K	probably benign	Het
Pate7	T	C	9: 35,688,472 (GRCm39)	M38V	probably benign	Het
Pcdhgb5	A	G	18: 37,865,684 (GRCm39)	E493G	probably damaging	Het
Phf20	T	A	2: 156,136,058 (GRCm39)	W626R	probably damaging	Het
Pkp2	C	A	16: 16,058,523 (GRCm39)	Q402K	probably benign	Het
Plch2	C	T	4: 155,087,244 (GRCm39)	D336N	possibly damaging	Het
Plk1	T	C	7: 121,768,481 (GRCm39)	F535L	probably damaging	Het
Ppp1r9a	A	T	6: 4,906,430 (GRCm39)	E328D	probably benign	Het
Prss44	G	A	9: 110,646,379 (GRCm39)	V369M	probably benign	Het
Rilp	A	G	11: 75,401,798 (GRCm39)	S193G	probably benign	Het
Rusc2	C	T	4: 43,414,900 (GRCm39)	Q69*	probably null	Het
Ryr2	T	C	13: 11,776,201 (GRCm39)	D1112G	possibly damaging	Het
Smc6	A	G	12: 11,333,141 (GRCm39)	R238G	possibly damaging	Het
Spen	A	G	4: 141,200,156 (GRCm39)	S2824P	probably damaging	Het
Stk4	T	C	2: 163,925,663 (GRCm39)	M77T	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Thsd1	C	T	8: 22,749,003 (GRCm39)	R625*	probably null	Het
Tle3	A	T	9: 61,320,138 (GRCm39)	N522I	probably damaging	Het
Tmcc1	C	A	6: 116,020,763 (GRCm39)	E230*	probably null	Het
Vmn2r90	T	C	17: 17,953,596 (GRCm39)	S587P	probably benign	Het
Wt1	A	T	2: 104,957,161 (GRCm39)	Q7L	probably benign	Het
Zfhx2	T	C	14: 55,300,306 (GRCm39)	I2482V	probably benign	Het
Zfpm2	A	T	15: 40,959,487 (GRCm39)	I189F	probably benign	Het

Other mutations in Lcp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Lcp1	APN	14	75,464,533 (GRCm39)	critical splice donor site	probably null
IGL01768:Lcp1	APN	14	75,461,573 (GRCm39)	missense	probably benign	0.40
IGL01801:Lcp1	APN	14	75,436,815 (GRCm39)	missense	probably benign	0.10
IGL01940:Lcp1	APN	14	75,453,805 (GRCm39)	missense	probably benign	0.17
IGL02135:Lcp1	APN	14	75,437,926 (GRCm39)	missense	probably benign	0.00
IGL02185:Lcp1	APN	14	75,466,740 (GRCm39)	missense	possibly damaging	0.73
IGL02478:Lcp1	APN	14	75,461,536 (GRCm39)	missense	probably benign	0.04
IGL02604:Lcp1	APN	14	75,461,566 (GRCm39)	missense	probably benign	0.11
R0244:Lcp1	UTSW	14	75,464,441 (GRCm39)	missense	possibly damaging	0.92
R0295:Lcp1	UTSW	14	75,436,860 (GRCm39)	missense	probably null	0.59
R0313:Lcp1	UTSW	14	75,436,873 (GRCm39)	missense	probably damaging	1.00
R0415:Lcp1	UTSW	14	75,464,446 (GRCm39)	missense	possibly damaging	0.88
R0751:Lcp1	UTSW	14	75,436,827 (GRCm39)	missense	probably benign	0.00
R0811:Lcp1	UTSW	14	75,451,928 (GRCm39)	missense	probably benign	0.00
R0812:Lcp1	UTSW	14	75,451,928 (GRCm39)	missense	probably benign	0.00
R1200:Lcp1	UTSW	14	75,466,742 (GRCm39)	missense	possibly damaging	0.73
R1713:Lcp1	UTSW	14	75,436,884 (GRCm39)	critical splice donor site	probably null
R1915:Lcp1	UTSW	14	75,436,737 (GRCm39)	missense	possibly damaging	0.81
R1969:Lcp1	UTSW	14	75,437,946 (GRCm39)	missense	probably damaging	1.00
R1970:Lcp1	UTSW	14	75,437,946 (GRCm39)	missense	probably damaging	1.00
R1971:Lcp1	UTSW	14	75,437,946 (GRCm39)	missense	probably damaging	1.00
R2045:Lcp1	UTSW	14	75,437,841 (GRCm39)	missense	probably benign	0.01
R2064:Lcp1	UTSW	14	75,435,515 (GRCm39)	critical splice acceptor site	probably null
R3949:Lcp1	UTSW	14	75,443,569 (GRCm39)	missense	possibly damaging	0.68
R4062:Lcp1	UTSW	14	75,452,620 (GRCm39)	missense	probably damaging	1.00
R4521:Lcp1	UTSW	14	75,452,608 (GRCm39)	missense	possibly damaging	0.94
R4811:Lcp1	UTSW	14	75,437,848 (GRCm39)	missense	probably damaging	0.99
R4854:Lcp1	UTSW	14	75,437,929 (GRCm39)	missense	probably damaging	1.00
R4974:Lcp1	UTSW	14	75,445,911 (GRCm39)	nonsense	probably null
R5539:Lcp1	UTSW	14	75,466,738 (GRCm39)	missense	probably benign	0.08
R5561:Lcp1	UTSW	14	75,449,948 (GRCm39)	missense	probably benign	0.01
R5724:Lcp1	UTSW	14	75,464,422 (GRCm39)	missense	probably benign	0.18
R5989:Lcp1	UTSW	14	75,436,827 (GRCm39)	missense	probably benign	0.00
R6731:Lcp1	UTSW	14	75,443,629 (GRCm39)	missense	probably damaging	1.00
R7346:Lcp1	UTSW	14	75,447,946 (GRCm39)	missense	possibly damaging	0.49
R7670:Lcp1	UTSW	14	75,437,871 (GRCm39)	missense	probably benign	0.12
R9780:Lcp1	UTSW	14	75,440,178 (GRCm39)	missense	probably damaging	1.00
S24628:Lcp1	UTSW	14	75,464,446 (GRCm39)	missense	possibly damaging	0.88
X0027:Lcp1	UTSW	14	75,464,526 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAATGTCACCGCTGATGC -3'
(R):5'- GGTTTCATGGATAAGGTCTGCTAC -3'

Sequencing Primer
(F):5'- CTAATCAGGAATCATTTGGCACTGGC -3'
(R):5'- GGTCTGCTACTTTAATACCAAGGAC -3'

Posted On

2019-11-12