Mutagenetix > Incidental Mutation

Incidental Mutation 'R4717:Pxn'

354120

Institutional Source

Beutler Lab

Gene Symbol

Pxn

Ensembl Gene

ENSMUSG00000029528

Gene Name

paxillin

Synonyms

Pax

MMRRC Submission

041984-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4717 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115644735-115694046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115690001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 342 (Q342L)

Ref Sequence

ENSEMBL: ENSMUSP00000083709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067268] [ENSMUST00000086523] [ENSMUST00000202564] [ENSMUST00000212819]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067268
AA Change: Q308L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069624
Gene: ENSMUSG00000029528
AA Change: Q308L

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:Paxillin	44	253	1.6e-98	PFAM
low complexity region	281	300	N/A	INTRINSIC
LIM	323	374	3.99e-23	SMART
LIM	382	433	2.36e-16	SMART
LIM	441	492	8.16e-20	SMART
LIM	500	551	8.62e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086523
AA Change: Q342L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083709
Gene: ENSMUSG00000029528
AA Change: Q342L

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:Paxillin	44	253	4.8e-97	PFAM
low complexity region	315	334	N/A	INTRINSIC
LIM	357	408	3.99e-23	SMART
LIM	416	467	2.36e-16	SMART
LIM	475	526	8.16e-20	SMART
LIM	534	585	8.62e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152156

Predicted Effect

probably damaging
Transcript: ENSMUST00000202564
AA Change: Q175L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144459
Gene: ENSMUSG00000029528
AA Change: Q175L

Domain	Start	End	E-Value	Type
Pfam:Paxillin	1	120	5.8e-59	PFAM
low complexity region	148	167	N/A	INTRINSIC
LIM	190	241	1.9e-25	SMART
LIM	249	300	1.1e-18	SMART
LIM	308	359	4e-22	SMART
LIM	367	418	4.4e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212819

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutant mice die at E9.5 with defects in the amnion, allantois, and headfold structures, as well as impaired growth, and abnormal heart and somite development; mutant fibroblasts show aberrant fibronectin-regulated focal adhesion dynamics, and disorganized membrane cytoskeletal structures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,097,783 (GRCm39)	L60P	probably damaging	Het
Acsf2	T	G	11: 94,450,372 (GRCm39)	M512L	probably benign	Het
Ahrr	T	A	13: 74,363,885 (GRCm39)	H312L	probably benign	Het
Akr1c18	T	C	13: 4,186,717 (GRCm39)	M244V	probably benign	Het
Aldh3b2	A	G	19: 4,031,128 (GRCm39)	Y459C	probably damaging	Het
Arhgap29	A	T	3: 121,803,607 (GRCm39)	I796L	possibly damaging	Het
Arrdc4	T	A	7: 68,391,406 (GRCm39)	D287V	probably damaging	Het
Astn2	A	T	4: 65,562,991 (GRCm39)	I930N	possibly damaging	Het
Bace2	T	A	16: 97,238,073 (GRCm39)	L508Q	probably damaging	Het
Baz2a	G	T	10: 127,960,811 (GRCm39)	C1537F	possibly damaging	Het
Cad	A	G	5: 31,224,030 (GRCm39)		probably null	Het
Capn5	A	T	7: 97,773,126 (GRCm39)	I626N	probably benign	Het
Car8	A	T	4: 8,169,685 (GRCm39)	N274K	probably damaging	Het
Casp14	T	C	10: 78,550,958 (GRCm39)	I76V	probably benign	Het
Ccdc88c	A	G	12: 100,882,925 (GRCm39)	V1649A	probably benign	Het
Cemip	A	T	7: 83,596,488 (GRCm39)	I1092N	probably damaging	Het
Clspn	A	G	4: 126,453,849 (GRCm39)	N91D	probably damaging	Het
Cpxm2	A	G	7: 131,656,574 (GRCm39)	Y563H	possibly damaging	Het
Csnk1g2	T	C	10: 80,473,749 (GRCm39)	V72A	probably benign	Het
Cyp46a1	T	C	12: 108,318,285 (GRCm39)		probably null	Het
Cyp4x1	T	C	4: 114,978,902 (GRCm39)	H206R	probably benign	Het
Dapk1	T	A	13: 60,874,476 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,290,888 (GRCm39)	W76R	probably damaging	Het
Dhx29	G	A	13: 113,083,469 (GRCm39)	R508H	unknown	Het
Dnah2	T	C	11: 69,320,183 (GRCm39)	D3962G	probably benign	Het
Dnajc14	T	A	10: 128,642,113 (GRCm39)	C12S	possibly damaging	Het
Dock1	T	C	7: 134,449,899 (GRCm39)	I804T	probably damaging	Het
Efs	G	T	14: 55,157,801 (GRCm39)	S170Y	probably damaging	Het
Eml4	G	T	17: 83,755,654 (GRCm39)	W295C	probably benign	Het
Fkbp15	A	G	4: 62,226,306 (GRCm39)	S748P	probably damaging	Het
Ghr	T	G	15: 3,349,235 (GRCm39)	I648L	possibly damaging	Het
Gigyf1	T	A	5: 137,523,494 (GRCm39)	I942N	probably damaging	Het
Gpam	T	A	19: 55,064,046 (GRCm39)	E682D	probably benign	Het
Gsr	A	T	8: 34,183,886 (GRCm39)	K383*	probably null	Het
Hapln1	C	A	13: 89,753,579 (GRCm39)	S248R	probably benign	Het
Haus2	G	T	2: 120,449,583 (GRCm39)	R209L	probably benign	Het
Hhatl	A	G	9: 121,618,943 (GRCm39)	F63S	probably damaging	Het
Hmcn1	A	G	1: 150,494,816 (GRCm39)	M4091T	probably benign	Het
Hspb7	A	G	4: 141,149,896 (GRCm39)	D94G	probably damaging	Het
Irf6	T	A	1: 192,849,742 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,381,878 (GRCm39)	L60*	probably null	Het
Jmjd1c	C	T	10: 66,993,830 (GRCm39)	Q104*	probably null	Het
Kcnh1	A	G	1: 191,959,025 (GRCm39)	D193G	probably damaging	Het
Klhl25	G	T	7: 75,516,528 (GRCm39)	C478F	probably damaging	Het
Klhl3	T	C	13: 58,178,330 (GRCm39)	D267G	probably damaging	Het
L3mbtl4	T	G	17: 68,762,708 (GRCm39)	H80Q	probably null	Het
Lhcgr	C	A	17: 89,049,895 (GRCm39)	V544F	probably benign	Het
Mfsd4a	T	C	1: 131,985,633 (GRCm39)	N168D	probably benign	Het
Mmp3	A	G	9: 7,449,881 (GRCm39)	Q255R	possibly damaging	Het
Mrgprb3	C	A	7: 48,293,000 (GRCm39)	G184C	probably benign	Het
Mtpap	C	T	18: 4,396,394 (GRCm39)	A562V	possibly damaging	Het
Nid1	T	C	13: 13,681,086 (GRCm39)	V1072A	probably benign	Het
Nsf	T	G	11: 103,714,595 (GRCm39)	K728T	probably damaging	Het
Or10ak7	T	C	4: 118,791,626 (GRCm39)	N140D	probably benign	Het
Or12j3	T	C	7: 139,953,328 (GRCm39)	N65S	probably damaging	Het
Or1e17	T	A	11: 73,831,641 (GRCm39)	S190T	possibly damaging	Het
Or2a5	T	C	6: 42,874,158 (GRCm39)	Y258H	probably damaging	Het
Or4k15b	A	T	14: 50,272,821 (GRCm39)	V13E	probably damaging	Het
Pcsk5	A	T	19: 17,502,631 (GRCm39)	C894S	probably damaging	Het
Pde2a	A	G	7: 101,143,879 (GRCm39)	D166G	probably benign	Het
Pfpl	G	A	19: 12,406,618 (GRCm39)	E290K	probably benign	Het
Pi4kb	A	C	3: 94,906,162 (GRCm39)	I570L	probably damaging	Het
Plxnb2	A	T	15: 89,041,622 (GRCm39)	C1727*	probably null	Het
Poln	A	T	5: 34,286,792 (GRCm39)	D125E	possibly damaging	Het
Pomgnt1	A	G	4: 116,011,412 (GRCm39)	D259G	possibly damaging	Het
Prx	A	T	7: 27,216,152 (GRCm39)	M218L	probably benign	Het
Rhpn2	A	G	7: 35,033,775 (GRCm39)	D3G	possibly damaging	Het
Rnase2b	C	T	14: 51,400,174 (GRCm39)	T85I	possibly damaging	Het
Rnaseh2b	C	A	14: 62,591,075 (GRCm39)	T142K	probably damaging	Het
Sacs	T	C	14: 61,450,304 (GRCm39)	S4117P	probably damaging	Het
Sdk2	T	C	11: 113,745,195 (GRCm39)	N700S	probably damaging	Het
Sec62	A	C	3: 30,864,020 (GRCm39)	K101Q	unknown	Het
Sel1l2	A	C	2: 140,071,943 (GRCm39)	L659R	possibly damaging	Het
Septin11	A	G	5: 93,304,815 (GRCm39)	I211V	possibly damaging	Het
Slc25a42	C	T	8: 70,642,107 (GRCm39)	E112K	probably damaging	Het
Spem2	T	C	11: 69,708,609 (GRCm39)	N119D	probably benign	Het
Themis	G	A	10: 28,665,748 (GRCm39)	E604K	probably benign	Het
Tie1	T	C	4: 118,343,414 (GRCm39)	K150E	probably damaging	Het
Top6bl	A	G	19: 4,675,901 (GRCm39)		probably benign	Het
Ubap2	G	A	4: 41,218,333 (GRCm39)	T258I	possibly damaging	Het
Ushbp1	C	T	8: 71,838,313 (GRCm39)	A664T	probably damaging	Het
Vmn1r1	T	C	1: 181,984,774 (GRCm39)	N297S	possibly damaging	Het
Vmn1r173	A	C	7: 23,402,637 (GRCm39)	I291L	probably damaging	Het
Yy1	A	G	12: 108,759,972 (GRCm39)	I212V	possibly damaging	Het
Zfp442	A	T	2: 150,250,149 (GRCm39)	F527L	probably damaging	Het
Zyg11b	T	A	4: 108,099,069 (GRCm39)	H632L	probably damaging	Het

Other mutations in Pxn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02332:Pxn	APN	5	115,682,985 (GRCm39)	missense	probably benign	0.00
IGL02432:Pxn	APN	5	115,683,805 (GRCm39)	missense	probably damaging	1.00
IGL02454:Pxn	APN	5	115,690,325 (GRCm39)	missense	probably damaging	1.00
R0316:Pxn	UTSW	5	115,692,027 (GRCm39)	missense	probably damaging	1.00
R0778:Pxn	UTSW	5	115,690,236 (GRCm39)	missense	probably damaging	1.00
R1680:Pxn	UTSW	5	115,690,206 (GRCm39)	missense	probably damaging	1.00
R1874:Pxn	UTSW	5	115,683,049 (GRCm39)	missense	probably damaging	1.00
R2069:Pxn	UTSW	5	115,683,726 (GRCm39)	missense	probably benign	0.26
R2145:Pxn	UTSW	5	115,690,815 (GRCm39)	unclassified	probably benign
R4124:Pxn	UTSW	5	115,684,966 (GRCm39)	missense	probably damaging	1.00
R4126:Pxn	UTSW	5	115,684,966 (GRCm39)	missense	probably damaging	1.00
R4127:Pxn	UTSW	5	115,684,966 (GRCm39)	missense	probably damaging	1.00
R4551:Pxn	UTSW	5	115,690,779 (GRCm39)	unclassified	probably benign
R5217:Pxn	UTSW	5	115,682,974 (GRCm39)	missense	probably benign	0.13
R5332:Pxn	UTSW	5	115,682,428 (GRCm39)	missense	probably damaging	1.00
R5635:Pxn	UTSW	5	115,689,551 (GRCm39)	missense	probably benign
R5681:Pxn	UTSW	5	115,682,593 (GRCm39)	missense	possibly damaging	0.94
R6629:Pxn	UTSW	5	115,692,121 (GRCm39)	missense	probably damaging	1.00
R6702:Pxn	UTSW	5	115,689,955 (GRCm39)	missense	probably benign	0.11
R7516:Pxn	UTSW	5	115,644,922 (GRCm39)	missense	unknown
R7671:Pxn	UTSW	5	115,686,606 (GRCm39)	missense	not run
R7749:Pxn	UTSW	5	115,686,575 (GRCm39)	missense	probably benign	0.00
R7866:Pxn	UTSW	5	115,686,665 (GRCm39)	missense	possibly damaging	0.85
R8196:Pxn	UTSW	5	115,683,768 (GRCm39)	missense	probably damaging	0.99
R8244:Pxn	UTSW	5	115,690,302 (GRCm39)	missense	probably damaging	1.00
R9096:Pxn	UTSW	5	115,686,680 (GRCm39)	missense	probably benign	0.23
X0018:Pxn	UTSW	5	115,683,791 (GRCm39)	missense	probably damaging	1.00
X0025:Pxn	UTSW	5	115,684,954 (GRCm39)	missense	probably damaging	0.97
X0065:Pxn	UTSW	5	115,689,546 (GRCm39)	critical splice acceptor site	probably null
Z1177:Pxn	UTSW	5	115,691,952 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGGGATAGAAAGCCTCATATGTG -3'
(R):5'- ATCCAATCTCCTCCTGGCAG -3'

Sequencing Primer
(F):5'- AAGCCTCATATGTGTTAATGCTGTG -3'
(R):5'- CACACAAAGTGCTCGGGGTG -3'

Posted On

2015-10-21