Mutagenetix > Incidental Mutation

Incidental Mutation 'R9415:Lpxn'

712023

Institutional Source

Beutler Lab

Gene Symbol

Lpxn

Ensembl Gene

ENSMUSG00000024696

Gene Name

leupaxin

Synonyms

4933402K05Rik, A530083L21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9415 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12773557-12811171 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12802336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 220 (D220E)

Ref Sequence

ENSEMBL: ENSMUSP00000025601 (fasta)

Gene Model

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

AlphaFold

Q99N69

Predicted Effect

probably benign
Transcript: ENSMUST00000025601
AA Change: D220E

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025601
Gene: ENSMUSG00000024696
AA Change: D220E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	G	2: 128,476,598 (GRCm39)	M1340T	probably benign	Het
Arhgef15	A	G	11: 68,842,233 (GRCm39)	L457P	probably damaging	Het
Arih2	A	T	9: 108,486,986 (GRCm39)	C317S	probably damaging	Het
Asb14	A	T	14: 26,633,793 (GRCm39)	T333S	probably damaging	Het
Atp13a4	T	C	16: 29,227,821 (GRCm39)	N1012S		Het
Capn9	C	A	8: 125,332,449 (GRCm39)	D429E	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cntrob	C	T	11: 69,193,741 (GRCm39)	R803Q	possibly damaging	Het
Dnah8	A	G	17: 31,029,297 (GRCm39)	I4089V	probably benign	Het
Fam162b	A	G	10: 51,466,155 (GRCm39)		probably null	Het
Fhod3	A	G	18: 25,102,244 (GRCm39)	D180G	probably damaging	Het
Gtf3c4	A	G	2: 28,723,966 (GRCm39)	S589P	possibly damaging	Het
Jcad	T	C	18: 4,673,912 (GRCm39)	L558P	probably damaging	Het
Kmt2d	A	G	15: 98,737,586 (GRCm39)	I5170T	unknown	Het
Lamb3	T	C	1: 193,008,319 (GRCm39)	F251L	probably benign	Het
Mex3a	T	A	3: 88,444,480 (GRCm39)	F519I	probably damaging	Het
Mfap1a	T	C	2: 121,337,001 (GRCm39)	M8V	probably benign	Het
Mical3	T	A	6: 120,934,712 (GRCm39)	D1789V	probably damaging	Het
Mpdz	G	A	4: 81,235,905 (GRCm39)	Q1211*	probably null	Het
Myd88	A	G	9: 119,167,070 (GRCm39)		probably null	Het
Myof	T	A	19: 37,941,412 (GRCm39)	K799N	probably damaging	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Ntn4	A	G	10: 93,480,488 (GRCm39)	T71A	probably benign	Het
Omd	A	C	13: 49,745,837 (GRCm39)	M416L	probably benign	Het
Oog1	G	C	12: 87,655,086 (GRCm39)	L411F	probably damaging	Het
Or10a3m	T	A	7: 108,313,042 (GRCm39)	W161R	probably damaging	Het
Or1e32	A	G	11: 73,705,143 (GRCm39)	I255T	probably damaging	Het
Or56a5	T	G	7: 104,793,498 (GRCm39)	M7L	probably benign	Het
Or7e171-ps1	A	G	9: 19,853,200 (GRCm39)	W179R	probably benign	Het
Pde4dip	T	C	3: 97,660,468 (GRCm39)	Q670R	possibly damaging	Het
Pex13	C	A	11: 23,601,034 (GRCm39)	G272V	probably damaging	Het
Pfkl	A	T	10: 77,824,081 (GRCm39)	V769D	probably damaging	Het
Pkn3	A	G	2: 29,968,332 (GRCm39)	Y10C	probably benign	Het
Pomgnt1	A	G	4: 116,013,378 (GRCm39)	H500R	probably damaging	Het
Rasef	T	C	4: 73,645,882 (GRCm39)	T496A	probably benign	Het
Rgs6	A	G	12: 83,184,166 (GRCm39)	S459G	probably benign	Het
Serpinb6b	A	T	13: 33,159,002 (GRCm39)	M187L		Het
Shcbp1l	A	G	1: 153,321,627 (GRCm39)	I408M	possibly damaging	Het
Slc25a45	T	C	19: 5,934,967 (GRCm39)	V272A	probably damaging	Het
Tlr4	T	C	4: 66,746,160 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,550,064 (GRCm39)	N774I		Het
Urb2	T	A	8: 124,756,613 (GRCm39)	S773R	possibly damaging	Het
Vmn1r35	A	T	6: 66,656,115 (GRCm39)	V185E	probably damaging	Het
Vps13d	A	C	4: 144,796,527 (GRCm39)	V3691G		Het
Wdtc1	A	G	4: 133,022,684 (GRCm39)	V554A	possibly damaging	Het
Xrn1	A	T	9: 95,851,527 (GRCm39)	M182L	probably damaging	Het
Zfp747	T	C	7: 126,973,198 (GRCm39)	H324R	possibly 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
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
Z1176:Lpxn	UTSW	19	12,802,311 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTACATTCTGCTGCACTGCC -3'
(R):5'- CTCCACAGTGAGAGCAGAAG -3'

Sequencing Primer
(F):5'- ATGTTCCTAGGTGATCCATGC -3'
(R):5'- AAGAAGTGCTCTGGGTGCC -3'

Posted On

2022-05-16