Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Pxn'

188406

Institutional Source

Beutler Lab

Gene Symbol

Pxn

Ensembl Gene

ENSMUSG00000029528

Gene Name

paxillin

Synonyms

Pax

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115644735-115694046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115690206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 383 (V383E)

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: V349E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069624
Gene: ENSMUSG00000029528
AA Change: V349E

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: V383E

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

SMART Domains

Protein: ENSMUSP00000083709
Gene: ENSMUSG00000029528
AA Change: V383E

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: V216E

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

SMART Domains

Protein: ENSMUSP00000144459
Gene: ENSMUSG00000029528
AA Change: V216E

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Ahnak	T	A	19: 8,987,327 (GRCm39)	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,655,080 (GRCm39)	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,106,521 (GRCm39)	D827V	probably damaging	Het
Bcat1	T	G	6: 144,985,354 (GRCm39)	D96A	probably damaging	Het
Birc6	A	T	17: 74,855,741 (GRCm39)	I184L	probably benign	Het
Clca3b	A	T	3: 144,543,585 (GRCm39)	L415M	probably damaging	Het
Clstn1	T	C	4: 149,728,183 (GRCm39)	V617A	probably benign	Het
Col22a1	G	A	15: 71,671,210 (GRCm39)	A1050V	unknown	Het
Col5a3	C	T	9: 20,695,964 (GRCm39)		probably null	Het
Csmd3	G	A	15: 47,604,566 (GRCm39)	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnm3	A	G	1: 161,838,545 (GRCm39)	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,923,361 (GRCm39)	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,497,103 (GRCm39)	Y710H	probably benign	Het
Eef1a2	A	T	2: 180,794,734 (GRCm39)	M155K	possibly damaging	Het
Entpd8	G	A	2: 24,974,036 (GRCm39)	C331Y	probably damaging	Het
Erc1	A	C	6: 119,552,722 (GRCm39)	L1072R	probably damaging	Het
Fhip2b	T	C	14: 70,824,291 (GRCm39)	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,331,212 (GRCm39)	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,699,491 (GRCm39)	S617P	probably damaging	Het
Ice1	T	C	13: 70,753,567 (GRCm39)	R840G	probably benign	Het
Il1rl2	T	C	1: 40,390,953 (GRCm39)	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,353,274 (GRCm39)		probably null	Het
Ireb2	C	T	9: 54,788,802 (GRCm39)	T92I	probably damaging	Het
Itprid1	C	T	6: 55,945,751 (GRCm39)	T824I	probably damaging	Het
Kcnj8	A	T	6: 142,515,915 (GRCm39)	L64*	probably null	Het
Mapk8ip3	A	G	17: 25,119,985 (GRCm39)	V983A	probably damaging	Het
Mertk	A	G	2: 128,643,556 (GRCm39)	D985G	probably benign	Het
Mical3	A	T	6: 120,936,604 (GRCm39)	S1307R	probably benign	Het
Mtcl3	A	T	10: 29,072,835 (GRCm39)	Q709L	probably damaging	Het
Ncaph2	A	G	15: 89,248,825 (GRCm39)	D222G	probably benign	Het
Nf1	C	A	11: 79,441,824 (GRCm39)	S295*	probably null	Het
Nlrp12	T	A	7: 3,289,804 (GRCm39)	D236V	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Oasl1	A	G	5: 115,074,003 (GRCm39)	D304G	probably damaging	Het
Or52i2	A	G	7: 102,319,940 (GRCm39)	D271G	possibly damaging	Het
Or7g12	A	G	9: 18,899,812 (GRCm39)	H176R	possibly damaging	Het
Or8g22	T	C	9: 38,958,296 (GRCm39)	I140V	probably benign	Het
Or8h8	C	T	2: 86,753,505 (GRCm39)	V124I	probably benign	Het
Patz1	A	G	11: 3,257,812 (GRCm39)	K604E	probably damaging	Het
Pcsk6	T	A	7: 65,684,998 (GRCm39)	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,108,231 (GRCm39)		probably null	Het
Plxnc1	A	C	10: 94,677,413 (GRCm39)	L938R	probably benign	Het
Pou4f2	G	T	8: 79,161,460 (GRCm39)	A381D	probably damaging	Het
Prdm4	A	G	10: 85,735,087 (GRCm39)	L685P	possibly damaging	Het
Rbl1	A	G	2: 157,016,703 (GRCm39)	L632P	probably damaging	Het
Rnf135	T	A	11: 80,087,707 (GRCm39)	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,682,262 (GRCm39)	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc5a6	A	G	5: 31,199,988 (GRCm39)	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,145,391 (GRCm39)	I492T	probably damaging	Het
Spag5	A	G	11: 78,211,442 (GRCm39)	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,109,371 (GRCm39)	I75L	possibly damaging	Het
Syngap1	T	C	17: 27,171,553 (GRCm39)	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,335 (GRCm39)	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840 (GRCm39)	V102A	probably benign	Het
Tomm70a	T	C	16: 56,942,324 (GRCm39)	S34P	unknown	Het
Txlnb	G	T	10: 17,718,981 (GRCm39)	G604V	probably benign	Het
Ube2q1	A	G	3: 89,683,483 (GRCm39)	T143A	probably benign	Het
Unc80	C	T	1: 66,542,828 (GRCm39)	R361*	probably null	Het
Vcan	T	C	13: 89,851,666 (GRCm39)	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,534,806 (GRCm39)	T116S	probably damaging	Het
Wdr81	C	T	11: 75,345,249 (GRCm39)	R6K	probably benign	Het
Zan	T	A	5: 137,401,312 (GRCm39)	T4136S	unknown	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp606	A	T	7: 12,227,898 (GRCm39)	H615L	probably damaging	Het
Zp3r	A	T	1: 130,510,617 (GRCm39)	N433K	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCATGGCCCAGGGGAAAAC -3'
(R):5'- TCCCAGATTGTGAGAAGGGAGACAC -3'

Sequencing Primer
(F):5'- CCTGAACAAGCTAGGGGTC -3'
(R):5'- AACACTTCTGGGCTGCTG -3'

Posted On

2014-05-09