Mutagenetix > Incidental Mutation

Incidental Mutation 'R8983:Lpxn'

683859

Institutional Source

Beutler Lab

Gene Symbol

Lpxn

Ensembl Gene

ENSMUSG00000024696

Gene Name

leupaxin

Synonyms

4933402K05Rik, A530083L21Rik

MMRRC Submission

068816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12773557-12811171 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12810522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 322 (H322R)

Ref Sequence

ENSEMBL: ENSMUSP00000025601 (fasta)

Gene Model

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

AlphaFold

Q99N69

Predicted Effect

probably damaging
Transcript: ENSMUST00000025601
AA Change: H322R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025601
Gene: ENSMUSG00000024696
AA Change: H322R

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

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,313,272 (GRCm39)	F632I	unknown	Het
5730522E02Rik	T	C	11: 25,719,069 (GRCm39)	T26A	unknown	Het
Ablim1	A	T	19: 57,227,644 (GRCm39)	V7E	probably benign	Het
Adcy5	T	G	16: 34,977,232 (GRCm39)	L255R	possibly damaging	Het
Ahnak	C	A	19: 8,981,477 (GRCm39)	N920K	possibly damaging	Het
Arhgef11	A	G	3: 87,640,508 (GRCm39)	K1251E		Het
Astn1	T	A	1: 158,491,700 (GRCm39)		probably null	Het
Atxn2	A	G	5: 121,916,063 (GRCm39)	Y423C	probably damaging	Het
Ccdc180	T	A	4: 45,909,359 (GRCm39)	V509D	possibly damaging	Het
Ccdc80	T	C	16: 44,924,780 (GRCm39)	V638A	possibly damaging	Het
Ccr6	T	G	17: 8,474,878 (GRCm39)	C28G	probably damaging	Het
Cdca7l	A	G	12: 117,828,902 (GRCm39)		probably benign	Het
Cnot3	T	C	7: 3,654,328 (GRCm39)	I52T	probably damaging	Het
Cped1	A	T	6: 22,138,686 (GRCm39)	N555I	probably benign	Het
Cpne6	A	T	14: 55,753,711 (GRCm39)	I390F	probably damaging	Het
Dlec1	A	G	9: 118,957,419 (GRCm39)	D836G	probably benign	Het
Dnah8	T	A	17: 31,070,628 (GRCm39)	V4438D	probably damaging	Het
Dok3	G	T	13: 55,671,535 (GRCm39)	N345K	probably damaging	Het
Eea1	C	T	10: 95,855,741 (GRCm39)	Q593*	probably null	Het
Eif3m	T	C	2: 104,830,139 (GRCm39)	Y351C	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Epn3	T	C	11: 94,386,914 (GRCm39)	E152G	probably damaging	Het
Faf2	A	G	13: 54,769,726 (GRCm39)	S25G	probably benign	Het
Fam83b	A	G	9: 76,400,357 (GRCm39)	S249P	probably damaging	Het
Fgl1	A	T	8: 41,653,496 (GRCm39)	S132R	probably benign	Het
Frem3	A	G	8: 81,395,875 (GRCm39)	E1890G	probably damaging	Het
Gpc5	T	A	14: 115,330,118 (GRCm39)	S94T	unknown	Het
Hectd1	A	G	12: 51,791,410 (GRCm39)	V2584A	probably damaging	Het
Kifc3	G	A	8: 95,833,104 (GRCm39)	A498V	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Loricrin	T	C	3: 91,988,446 (GRCm39)	Y280C	unknown	Het
Lpin2	C	T	17: 71,553,962 (GRCm39)	A931V	unknown	Het
Megf9	A	G	4: 70,353,634 (GRCm39)	S391P	probably benign	Het
Mipep	G	A	14: 61,080,702 (GRCm39)	V565I	probably benign	Het
Mmrn1	C	T	6: 60,953,042 (GRCm39)	T441I	probably benign	Het
Mrpl48	T	C	7: 100,223,702 (GRCm39)	N14S	probably benign	Het
Ncald	A	G	15: 37,397,512 (GRCm39)	F56S	probably damaging	Het
Or9g3	T	C	2: 85,584,251 (GRCm39)		probably benign	Het
Pals1	G	A	12: 78,884,298 (GRCm39)	D640N	probably damaging	Het
Plcd3	A	G	11: 102,962,092 (GRCm39)	V703A	possibly damaging	Het
Potefam1	A	G	2: 111,030,701 (GRCm39)	S403P	probably benign	Het
Prss59	A	G	6: 40,897,934 (GRCm39)	S250P	possibly damaging	Het
Qser1	T	C	2: 104,617,702 (GRCm39)	I947V	probably benign	Het
Rdx	G	A	9: 51,974,905 (GRCm39)	A14T	probably damaging	Het
Rnf213	A	G	11: 119,321,175 (GRCm39)	D1211G		Het
Sbpl	T	C	17: 24,172,253 (GRCm39)	D222G	unknown	Het
Scn8a	C	A	15: 100,900,030 (GRCm39)	T703K	possibly damaging	Het
Setbp1	A	G	18: 78,902,459 (GRCm39)	S403P	probably benign	Het
Sfmbt2	A	G	2: 10,409,267 (GRCm39)	S71G	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,775 (GRCm39)		probably benign	Het
Smco3	C	T	6: 136,808,730 (GRCm39)	G48D	possibly damaging	Het
Spag9	T	C	11: 93,958,815 (GRCm39)	S280P	probably benign	Het
Thada	T	C	17: 84,538,515 (GRCm39)	T1498A	probably benign	Het
Tmprss7	T	C	16: 45,481,263 (GRCm39)	D641G	probably damaging	Het
Top6bl	T	C	19: 4,695,714 (GRCm39)	I513V	possibly damaging	Het
Trim43a	A	G	9: 88,464,404 (GRCm39)	D105G	probably benign	Het
Utp14b	T	A	1: 78,643,003 (GRCm39)	N300K	probably benign	Het
Vmn2r83	T	G	10: 79,327,360 (GRCm39)	I656S	probably damaging	Het
Zfp646	A	T	7: 127,480,777 (GRCm39)	M985L	probably benign	Het
Zfp777	A	T	6: 48,006,158 (GRCm39)	L412Q	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
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
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'- TGTTTGTCAAGGACCTGAGC -3'
(R):5'- CAACATGAAGCAGATGTGAGTC -3'

Sequencing Primer
(F):5'- GTTTGTCAAGGACCTGAGCAAAATC -3'
(R):5'- TGTGAGTCAAAGGAGAACTACTGTG -3'

Posted On

2021-10-11