Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02432:Pxn'

293172

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pxn

Ensembl Gene

ENSMUSG00000029528

Gene Name

paxillin

Synonyms

Pax

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02432

Quality Score

Status

Chromosome

Chromosomal Location

115644735-115694046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115683805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 79 (D79E)

Ref Sequence

ENSEMBL: ENSMUSP00000143926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067268] [ENSMUST00000086523] [ENSMUST00000137716] [ENSMUST00000157050] [ENSMUST00000202564] [ENSMUST00000212819]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067268
AA Change: D212E

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000069624
Gene: ENSMUSG00000029528
AA Change: D212E

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 benign
Transcript: ENSMUST00000086523
AA Change: D212E

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000083709
Gene: ENSMUSG00000029528
AA Change: D212E

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: ENSMUST00000129897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134198

Predicted Effect

probably damaging
Transcript: ENSMUST00000137716
AA Change: D79E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144513
Gene: ENSMUSG00000029528
AA Change: D79E

Domain	Start	End	E-Value	Type
Pfam:Paxillin	1	120	1.9e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139834

Predicted Effect

probably damaging
Transcript: ENSMUST00000157050
AA Change: D79E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143926
Gene: ENSMUSG00000029528
AA Change: D79E

Domain	Start	End	E-Value	Type
Pfam:Paxillin	1	106	1.4e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152156

Predicted Effect

probably benign
Transcript: ENSMUST00000202564
AA Change: D79E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144459
Gene: ENSMUSG00000029528
AA Change: D79E

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

possibly damaging
Transcript: ENSMUST00000212819
AA Change: D212E

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153682

Coding Region Coverage

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	G	A	2: 151,314,481 (GRCm39)	T399M	probably benign	Het
A830018L16Rik	A	T	1: 11,818,303 (GRCm39)	N321I	probably damaging	Het
Aimp1	T	C	3: 132,379,738 (GRCm39)	T135A	probably benign	Het
Ascc3	T	C	10: 50,576,589 (GRCm39)	M848T	probably damaging	Het
Cry2	T	C	2: 92,244,012 (GRCm39)	D387G	probably damaging	Het
Daxx	G	A	17: 34,131,311 (GRCm39)	D413N	probably benign	Het
Gbp6	A	T	5: 105,422,228 (GRCm39)	V492E	probably benign	Het
Itpr2	T	A	6: 146,226,671 (GRCm39)	M1358L	probably benign	Het
Med13l	T	A	5: 118,876,465 (GRCm39)	D880E	possibly damaging	Het
Mmd2	A	T	5: 142,561,094 (GRCm39)	I47N	probably damaging	Het
Mroh2b	G	A	15: 4,943,668 (GRCm39)	M401I	probably benign	Het
Nrip1	T	C	16: 76,088,668 (GRCm39)	K963R	probably benign	Het
Otop2	A	G	11: 115,219,988 (GRCm39)	H276R	probably damaging	Het
Rho	G	A	6: 115,909,146 (GRCm39)	V61I	probably damaging	Het
Rtp1	A	G	16: 23,250,154 (GRCm39)	Y173C	probably damaging	Het
Slc6a17	T	C	3: 107,400,493 (GRCm39)	D212G	possibly damaging	Het
Stpg1	A	G	4: 135,235,321 (GRCm39)	E54G	probably damaging	Het
Tas2r119	A	G	15: 32,177,853 (GRCm39)	T140A	probably benign	Het
Traf3ip3	C	T	1: 192,866,884 (GRCm39)	C316Y	probably damaging	Het
Ttc28	G	A	5: 111,371,101 (GRCm39)	A517T	probably damaging	Het
Vmn1r30	T	C	6: 58,412,655 (GRCm39)	N59S	probably benign	Het
Vmn2r4	C	T	3: 64,313,821 (GRCm39)	V387M	probably benign	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
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
R4717:Pxn	UTSW	5	115,690,001 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16