Mutagenetix > Incidental Mutation

Incidental Mutation 'R5570:Lpxn'

435646

Institutional Source

Beutler Lab

Gene Symbol

Lpxn

Ensembl Gene

ENSMUSG00000024696

Gene Name

leupaxin

Synonyms

4933402K05Rik, A530083L21Rik

MMRRC Submission

043127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12773557-12811171 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12810023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 265 (M265K)

Ref Sequence

ENSEMBL: ENSMUSP00000025601 (fasta)

Gene Model

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

AlphaFold

Q99N69

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025601
AA Change: M265K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025601
Gene: ENSMUSG00000024696
AA Change: M265K

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	C	A	9: 36,605,577 (GRCm39)	S41R	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Arhgap26	C	A	18: 39,232,671 (GRCm39)	D99E	probably damaging	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Clmp	T	C	9: 40,683,826 (GRCm39)		probably null	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dock2	G	T	11: 34,618,233 (GRCm39)	R128S	probably damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Espn	T	C	4: 152,208,237 (GRCm39)	E460G	probably damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,965,668 (GRCm39)	S476P	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Mcm3ap	C	T	10: 76,316,930 (GRCm39)	R645W	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Necap1	T	C	6: 122,858,471 (GRCm39)	F105L	probably damaging	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nup93	T	C	8: 95,041,298 (GRCm39)	V812A	probably damaging	Het
Or10ak7	T	A	4: 118,791,263 (GRCm39)	I259F	possibly damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parn	G	A	16: 13,483,794 (GRCm39)	P50L	probably damaging	Het
Pcdhb7	T	C	18: 37,477,224 (GRCm39)	C787R	probably benign	Het
Pdk2	A	T	11: 94,920,826 (GRCm39)	I175N	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Phf12	A	G	11: 77,908,937 (GRCm39)	D339G	possibly damaging	Het
Phlpp1	A	T	1: 106,101,162 (GRCm39)	I477F	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Rara	C	G	11: 98,863,478 (GRCm39)	R382G	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rev3l	T	C	10: 39,728,071 (GRCm39)		probably null	Het
Robo3	T	A	9: 37,336,571 (GRCm39)	Y399F	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Skint3	A	G	4: 112,092,995 (GRCm39)	M20V	probably benign	Het
Slc17a6	A	G	7: 51,308,504 (GRCm39)	D276G	probably benign	Het
Sult3a2	A	T	10: 33,654,268 (GRCm39)	V128D	probably damaging	Het
Syt3	T	A	7: 44,040,043 (GRCm39)	V92E	possibly damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Utp14b	G	A	1: 78,643,118 (GRCm39)	D339N	probably damaging	Het
Vars1	T	C	17: 35,235,214 (GRCm39)	F1259L	probably benign	Het
Vmn1r115	A	C	7: 20,578,555 (GRCm39)	V119G	possibly damaging	Het
Zc3h12a	C	T	4: 125,014,166 (GRCm39)	R293H	probably damaging	Het
Zfp638	A	T	6: 83,956,170 (GRCm39)	E1592D	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
R0848:Lpxn	UTSW	19	12,781,401 (GRCm39)	missense	probably benign
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
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'- TTTCCGTTTTGAACATGGGC -3'
(R):5'- CACAATTGGTTCTGTGTGCTAC -3'

Sequencing Primer
(F):5'- CGTTTTGAACATGGGCACACTG -3'
(R):5'- GGAAACACAGATTCCTCTCCTTAG -3'

Posted On

2016-10-24