Mutagenetix > Incidental Mutation

Incidental Mutation 'R2069:Pxn'

226931

Institutional Source

Beutler Lab

Gene Symbol

Pxn

Ensembl Gene

ENSMUSG00000029528

Gene Name

paxillin

Synonyms

Pax

MMRRC Submission

040074-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115644735-115694046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115683726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 186 (N186S)

Ref Sequence

ENSEMBL: ENSMUSP00000148843 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067268
AA Change: N186S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069624
Gene: ENSMUSG00000029528
AA Change: N186S

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: N186S

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

SMART Domains

Protein: ENSMUSP00000083709
Gene: ENSMUSG00000029528
AA Change: N186S

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 benign
Transcript: ENSMUST00000137716
AA Change: N53S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144513
Gene: ENSMUSG00000029528
AA Change: N53S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202564
AA Change: N53S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144459
Gene: ENSMUSG00000029528
AA Change: N53S

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: ENSMUST00000157050
AA Change: N53S

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000143926
Gene: ENSMUSG00000029528
AA Change: N53S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212819
AA Change: N186S

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139834

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (104/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,012,341 (GRCm39)	V86A	probably benign	Het
Abcc3	A	T	11: 94,255,243 (GRCm39)	I601N	probably damaging	Het
Abl2	T	A	1: 156,448,397 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Ahi1	C	T	10: 20,835,895 (GRCm39)	T76I	probably damaging	Het
Arhgap42	C	T	9: 9,035,601 (GRCm39)	G247D	probably damaging	Het
Arid2	C	T	15: 96,260,471 (GRCm39)	L407F	probably damaging	Het
Atp13a1	T	C	8: 70,252,423 (GRCm39)	F606L	probably benign	Het
Avl9	T	A	6: 56,713,420 (GRCm39)		probably benign	Het
B3glct	C	T	5: 149,632,845 (GRCm39)	A65V	probably damaging	Het
Bcorl1	T	C	X: 47,490,794 (GRCm39)		probably benign	Het
Bdp1	T	C	13: 100,187,496 (GRCm39)	T1624A	probably benign	Het
Bmp15	A	G	X: 6,228,075 (GRCm39)	M263T	probably benign	Het
Brd8	T	C	18: 34,747,532 (GRCm39)	K110E	probably damaging	Het
Cachd1	A	G	4: 100,848,041 (GRCm39)	D1052G	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Ccdc113	G	A	8: 96,283,924 (GRCm39)	E333K	probably benign	Het
Ccnl2	A	T	4: 155,896,938 (GRCm39)		probably null	Het
Ccr9	T	C	9: 123,608,429 (GRCm39)	F37S	probably benign	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Ceacam10	A	T	7: 24,477,797 (GRCm39)	N104I	probably damaging	Het
Cenpk	T	A	13: 104,372,684 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,652,453 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,962,556 (GRCm39)	F771S	probably damaging	Het
Chil4	G	A	3: 106,126,771 (GRCm39)	L4F	probably benign	Het
Cilp	G	A	9: 65,185,372 (GRCm39)	R489Q	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Coq8b	A	G	7: 26,956,802 (GRCm39)	E485G	probably damaging	Het
Cse1l	A	G	2: 166,783,412 (GRCm39)	S733G	probably benign	Het
Dnah5	G	A	15: 28,312,534 (GRCm39)		probably null	Het
Dnmt3l	T	C	10: 77,888,566 (GRCm39)	V156A	probably damaging	Het
Duox1	A	T	2: 122,163,543 (GRCm39)	T792S	probably benign	Het
Duox2	T	C	2: 122,117,589 (GRCm39)	D915G	probably benign	Het
Efcab5	A	T	11: 77,063,147 (GRCm39)	M115K	probably benign	Het
Eif2s1	G	A	12: 78,923,959 (GRCm39)	D139N	probably benign	Het
Erg	A	G	16: 95,161,937 (GRCm39)	F390L	probably damaging	Het
Fam193b	A	T	13: 55,690,811 (GRCm39)	S650R	probably damaging	Het
Fbp2	T	A	13: 63,001,875 (GRCm39)	K113N	possibly damaging	Het
Fnbp4	T	G	2: 90,588,716 (GRCm39)	S496A	probably damaging	Het
Gab3	C	A	X: 74,043,701 (GRCm39)	R475L	probably damaging	Het
Gsap	T	C	5: 21,431,837 (GRCm39)		probably benign	Het
Gucy1a2	C	T	9: 3,582,697 (GRCm39)	L160F	probably damaging	Het
Hivep1	C	T	13: 42,337,262 (GRCm39)	A2447V	possibly damaging	Het
Insc	G	T	7: 114,403,828 (GRCm39)		probably null	Het
Jph2	A	G	2: 163,181,605 (GRCm39)	S520P	possibly damaging	Het
Kidins220	T	A	12: 25,037,005 (GRCm39)		probably benign	Het
Krtap29-1	A	G	11: 99,869,438 (GRCm39)	S148P	probably damaging	Het
Ltbp2	A	C	12: 84,840,507 (GRCm39)	C1000G	probably damaging	Het
Map2k3	T	C	11: 60,840,853 (GRCm39)	F294S	probably damaging	Het
Map4k2	C	A	19: 6,392,768 (GRCm39)		probably benign	Het
Mboat2	T	C	12: 25,001,442 (GRCm39)	V281A	probably benign	Het
Mdga2	G	A	12: 66,615,691 (GRCm39)	R570*	probably null	Het
Mlxipl	A	G	5: 135,135,859 (GRCm39)	D28G	probably damaging	Het
Morc2b	T	C	17: 33,355,734 (GRCm39)	I679M	probably benign	Het
Myh4	T	C	11: 67,137,192 (GRCm39)		probably benign	Het
Nfib	A	C	4: 82,416,852 (GRCm39)	L61R	probably damaging	Het
Noc2l	C	A	4: 156,325,907 (GRCm39)	Y227*	probably null	Het
Nrde2	A	G	12: 100,108,491 (GRCm39)	S367P	probably damaging	Het
Nup93	C	A	8: 94,970,367 (GRCm39)	P89T	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Or10a2	A	T	7: 106,673,826 (GRCm39)	K264*	probably null	Het
Or11h4	T	A	14: 50,974,033 (GRCm39)	E195D	possibly damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k77	A	G	2: 111,199,440 (GRCm39)	I154M	probably benign	Het
Or6b9	A	T	7: 106,555,494 (GRCm39)	Y216*	probably null	Het
Or9r7	A	G	10: 129,962,074 (GRCm39)	I284T	possibly damaging	Het
Oxct1	G	T	15: 4,122,007 (GRCm39)	A319S	probably null	Het
P2ry10	A	G	X: 106,146,859 (GRCm39)	S265G	probably benign	Het
Peak1	A	T	9: 56,166,043 (GRCm39)	N628K	probably damaging	Het
Pkdrej	T	A	15: 85,705,432 (GRCm39)	Q168L	probably benign	Het
Plaat5	T	C	19: 7,590,003 (GRCm39)	S10P	possibly damaging	Het
Plec	A	G	15: 76,073,126 (GRCm39)	M604T	probably benign	Het
Pmfbp1	A	T	8: 110,258,735 (GRCm39)	N680I	possibly damaging	Het
Pnma8b	T	C	7: 16,679,714 (GRCm39)	W233R	probably damaging	Het
Rsad1	A	C	11: 94,439,951 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,046,229 (GRCm39)	I112T	probably benign	Het
S1pr2	A	T	9: 20,878,790 (GRCm39)	L346Q	probably damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Slc36a4	T	A	9: 15,638,276 (GRCm39)	F234Y	probably damaging	Het
Slitrk2	T	A	X: 65,698,235 (GRCm39)	V242D	probably damaging	Het
Sp100	A	G	1: 85,608,863 (GRCm39)		probably null	Het
Spryd3	A	C	15: 102,026,616 (GRCm39)	L352V	probably benign	Het
Ssc4d	A	C	5: 135,999,171 (GRCm39)	W11G	possibly damaging	Het
Stx17	T	A	4: 48,158,870 (GRCm39)	D83E	probably damaging	Het
Tlk2	A	T	11: 105,131,266 (GRCm39)	Q204L	probably benign	Het
Tnfrsf21	A	T	17: 43,348,829 (GRCm39)	H147L	possibly damaging	Het
Tnrc18	A	T	5: 142,751,842 (GRCm39)	D1154E	unknown	Het
Trap1	A	G	16: 3,886,200 (GRCm39)	S86P	probably benign	Het
Trim32	T	A	4: 65,533,013 (GRCm39)	C523*	probably null	Het
Ttc38	G	T	15: 85,722,989 (GRCm39)	D146Y	probably damaging	Het
Ttc9	T	A	12: 81,678,570 (GRCm39)	L131Q	probably damaging	Het
Ttn	T	C	2: 76,557,192 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubash3b	G	A	9: 40,954,869 (GRCm39)	P92S	possibly damaging	Het
Ube4a	T	C	9: 44,859,397 (GRCm39)	N367S	probably damaging	Het
Ubr4	T	A	4: 139,206,851 (GRCm39)	H4899Q	possibly damaging	Het
Ufl1	C	T	4: 25,269,036 (GRCm39)	G265D	possibly damaging	Het
Vmn2r27	T	A	6: 124,201,442 (GRCm39)	I172F	probably damaging	Het
Vmn2r6	A	T	3: 64,463,519 (GRCm39)	H438Q	possibly damaging	Het
Vmn2r61	A	G	7: 41,949,425 (GRCm39)	D615G	probably benign	Het
Wdr24	T	A	17: 26,045,256 (GRCm39)	D330E	probably damaging	Het
Zbbx	A	T	3: 74,985,719 (GRCm39)	N444K	probably benign	Het
Zc3h7b	A	T	15: 81,676,529 (GRCm39)	Q757L	probably damaging	Het
Zpld2	T	G	4: 133,929,252 (GRCm39)	N351T	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AACCTCTCTGAACTTGACCG -3'
(R):5'- GACCTTCAAGAGCTTCCCAGTG -3'

Sequencing Primer
(F):5'- CTGTTACTGGAGCTGAACGCAG -3'
(R):5'- TGAATACTCACACAGGGCTG -3'

Posted On

2014-09-17