Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Lpxn'

77466

Institutional Source

Beutler Lab

Gene Symbol

Lpxn

Ensembl Gene

ENSMUSG00000024696

Gene Name

leupaxin

Synonyms

4933402K05Rik, A530083L21Rik

MMRRC Submission

039027-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12773557-12811171 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12781401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 40 (I40V)

Ref Sequence

ENSEMBL: ENSMUSP00000025601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025601]

AlphaFold

Q99N69

Predicted Effect

probably benign
Transcript: ENSMUST00000025601
AA Change: I40V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025601
Gene: ENSMUSG00000024696
AA Change: I40V

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
LIM	151	202	3.17e-17	SMART
LIM	210	261	1.98e-18	SMART
LIM	269	320	3.26e-19	SMART
LIM	328	379	3.34e-16	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,984 (GRCm39)	H181Q	probably damaging	Het
Abca13	T	A	11: 9,632,011 (GRCm39)	L4977*	probably null	Het
Abca8a	T	A	11: 109,919,016 (GRCm39)	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,022,584 (GRCm39)	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,681,753 (GRCm39)		probably benign	Het
Anks1b	A	C	10: 89,906,987 (GRCm39)	E268A	probably damaging	Het
C1rl	A	G	6: 124,485,465 (GRCm39)	T279A	probably benign	Het
C5ar2	T	C	7: 15,971,526 (GRCm39)	T134A	probably benign	Het
Cdkl3	G	A	11: 51,902,094 (GRCm39)	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,321,654 (GRCm39)	F386Y	probably benign	Het
Chd1	C	T	17: 15,990,503 (GRCm39)	P1685L	probably damaging	Het
Chrne	G	T	11: 70,506,239 (GRCm39)	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003 (GRCm39)	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,182,888 (GRCm39)	Y620H	probably benign	Het
Col6a1	A	G	10: 76,549,458 (GRCm39)		probably null	Het
Cyp2d26	T	A	15: 82,674,434 (GRCm39)	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dmac2l	A	T	12: 69,788,584 (GRCm39)	H161L	probably benign	Het
Eif1a	T	A	18: 46,741,114 (GRCm39)	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,477,684 (GRCm39)	C696S	probably benign	Het
Exoc7	A	G	11: 116,186,074 (GRCm39)	S376P	possibly damaging	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gimap7	T	C	6: 48,700,657 (GRCm39)	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 89,001,657 (GRCm39)	V171A	probably damaging	Het
Hax1	A	G	3: 89,902,940 (GRCm39)	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,526,671 (GRCm39)	D258E	probably damaging	Het
Kcnb1	G	T	2: 166,948,187 (GRCm39)	F220L	probably damaging	Het
Kif1a	T	A	1: 92,947,620 (GRCm39)	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,095,090 (GRCm39)	I379N	probably damaging	Het
Lrp1	C	T	10: 127,389,231 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,515 (GRCm39)	R395H	probably benign	Het
Mindy4	G	A	6: 55,295,271 (GRCm39)	W737*	probably null	Het
Mki67	C	A	7: 135,302,772 (GRCm39)	R754L	probably benign	Het
Morf4l1	A	G	9: 89,982,502 (GRCm39)	V144A	probably benign	Het
Mvb12a	T	C	8: 71,998,422 (GRCm39)	S186P	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nipal1	A	G	5: 72,825,183 (GRCm39)	N292S	probably damaging	Het
Nqo2	T	G	13: 34,156,461 (GRCm39)		probably null	Het
Or14a256	T	C	7: 86,264,848 (GRCm39)	Y335C	probably damaging	Het
Or2d3b	A	G	7: 106,514,200 (GRCm39)	K265R	probably benign	Het
Or5ak24	A	T	2: 85,260,365 (GRCm39)	N269K	probably benign	Het
Or6c214	C	T	10: 129,591,077 (GRCm39)	V81I	probably benign	Het
Osbpl7	C	A	11: 96,951,350 (GRCm39)	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,400,475 (GRCm39)	G809S	probably benign	Het
Pcm1	T	C	8: 41,735,720 (GRCm39)	V846A	probably damaging	Het
Phf3	A	G	1: 30,902,253 (GRCm39)	L20P	probably damaging	Het
Pih1d1	A	G	7: 44,807,041 (GRCm39)	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,308,021 (GRCm39)		probably null	Het
Plvap	A	T	8: 71,959,526 (GRCm39)	L422Q	probably damaging	Het
Polq	C	T	16: 36,882,492 (GRCm39)	A1273V	probably benign	Het
Prelid2	T	A	18: 42,068,289 (GRCm39)	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,501,783 (GRCm39)	D8N	probably damaging	Het
Ptpra	T	A	2: 130,360,911 (GRCm39)	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,438,393 (GRCm39)	S151P	probably benign	Het
Rsph6a	G	A	7: 18,791,595 (GRCm39)	D255N	probably benign	Het
Serpinb6c	A	T	13: 34,083,288 (GRCm39)	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866 (GRCm39)	N22S	probably benign	Het
Snx5	G	A	2: 144,095,726 (GRCm39)	R312C	probably damaging	Het
Stard9	T	C	2: 120,526,304 (GRCm39)	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,144,733 (GRCm39)		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tlr12	A	G	4: 128,510,084 (GRCm39)	I722T	probably benign	Het
Tmem101	A	T	11: 102,046,692 (GRCm39)	M59K	possibly damaging	Het
Trim34a	C	T	7: 103,910,331 (GRCm39)	R378C	probably benign	Het
Trim35	T	A	14: 66,546,574 (GRCm39)	M447K	probably benign	Het
Trps1	C	A	15: 50,524,945 (GRCm39)	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 21,110,433 (GRCm39)	S161C	probably damaging	Het
Vps13a	A	C	19: 16,676,261 (GRCm39)	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,185,983 (GRCm39)	C671F	probably damaging	Het

Other mutations in Lpxn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01895:Lpxn	APN	19	12,810,450 (GRCm39)	missense	probably damaging	0.99
IGL03088:Lpxn	APN	19	12,810,575 (GRCm39)	missense	probably damaging	1.00
IGL03203:Lpxn	APN	19	12,796,770 (GRCm39)	missense	probably benign	0.01
mascherano	UTSW	19	12,810,536 (GRCm39)	missense	probably damaging	0.99
R1514:Lpxn	UTSW	19	12,801,414 (GRCm39)	missense	probably damaging	1.00
R1532:Lpxn	UTSW	19	12,781,456 (GRCm39)	critical splice donor site	probably null
R1880:Lpxn	UTSW	19	12,781,452 (GRCm39)	missense	probably benign	0.17
R1937:Lpxn	UTSW	19	12,802,274 (GRCm39)	missense	probably benign	0.00
R2182:Lpxn	UTSW	19	12,810,122 (GRCm39)	critical splice donor site	probably null
R2897:Lpxn	UTSW	19	12,796,722 (GRCm39)	missense	probably benign	0.01
R4194:Lpxn	UTSW	19	12,810,599 (GRCm39)	missense	probably damaging	1.00
R4576:Lpxn	UTSW	19	12,810,654 (GRCm39)	missense	probably benign	0.17
R4844:Lpxn	UTSW	19	12,810,536 (GRCm39)	missense	probably damaging	0.99
R5567:Lpxn	UTSW	19	12,810,023 (GRCm39)	missense	possibly damaging	0.90
R5570:Lpxn	UTSW	19	12,810,023 (GRCm39)	missense	possibly damaging	0.90
R6060:Lpxn	UTSW	19	12,810,489 (GRCm39)	missense	probably damaging	1.00
R6366:Lpxn	UTSW	19	12,802,163 (GRCm39)	missense	probably benign	0.12
R6615:Lpxn	UTSW	19	12,802,163 (GRCm39)	missense	probably benign	0.12
R7116:Lpxn	UTSW	19	12,788,622 (GRCm39)	missense	probably benign	0.28
R7135:Lpxn	UTSW	19	12,810,683 (GRCm39)	missense	probably damaging	1.00
R7808:Lpxn	UTSW	19	12,802,185 (GRCm39)	missense	possibly damaging	0.55
R8290:Lpxn	UTSW	19	12,810,052 (GRCm39)	missense	probably damaging	1.00
R8897:Lpxn	UTSW	19	12,802,525 (GRCm39)	missense	probably damaging	1.00
R8983:Lpxn	UTSW	19	12,810,522 (GRCm39)	missense	probably damaging	1.00
R9415:Lpxn	UTSW	19	12,802,336 (GRCm39)	missense	probably benign	0.40
Z1176:Lpxn	UTSW	19	12,802,311 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACACTCCTGAAGTGAGGTAAGGATG -3'
(R):5'- TCTCAGTTCTCCTCTTTCCAAAAGCAAC -3'

Sequencing Primer
(F):5'- GGTAAGGATGGAAGAAGGTATTTG -3'
(R):5'- GAAATGTTGTCACACTTGATTGTC -3'

Posted On

2013-10-16