Mutagenetix > Incidental Mutation

Incidental Mutation 'R4551:Pxn'

333948

Institutional Source

Beutler Lab

Gene Symbol

Pxn

Ensembl Gene

ENSMUSG00000029528

Gene Name

paxillin

Synonyms

Pax

MMRRC Submission

041782-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115644735-115694046 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 115690779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148843 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067268

SMART Domains

Protein: ENSMUSP00000069624
Gene: ENSMUSG00000029528

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

SMART Domains

Protein: ENSMUSP00000083709
Gene: ENSMUSG00000029528

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 benign
Transcript: ENSMUST00000202564

SMART Domains

Protein: ENSMUSP00000144459
Gene: ENSMUSG00000029528

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: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (71/71)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	G	11: 119,902,395 (GRCm39)	E610A	probably benign	Het
Abhd17b	T	C	19: 21,658,290 (GRCm39)	S176P	possibly damaging	Het
Adgrg7	A	G	16: 56,568,375 (GRCm39)	Y427H	probably damaging	Het
Alox15	T	A	11: 70,235,422 (GRCm39)	I647L	probably benign	Het
Ankhd1	C	A	18: 36,788,560 (GRCm39)		probably null	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
Armcx5	T	A	X: 134,647,256 (GRCm39)	V444D	probably damaging	Het
C4bp	A	G	1: 130,564,464 (GRCm39)	Y407H	possibly damaging	Het
Cog6	T	A	3: 52,905,741 (GRCm39)	E96V	probably damaging	Het
Cox20	A	C	1: 178,150,114 (GRCm39)	N96T	probably benign	Het
Cpa3	T	C	3: 20,273,934 (GRCm39)	I351V	probably benign	Het
Cpd	C	T	11: 76,702,712 (GRCm39)	G552D	probably damaging	Het
Cyld	A	G	8: 89,433,762 (GRCm39)	K184E	possibly damaging	Het
Dab2	G	A	15: 6,464,775 (GRCm39)	G324D	probably damaging	Het
Depdc1a	T	A	3: 159,228,221 (GRCm39)	D324E	probably damaging	Het
Dnah9	T	C	11: 65,732,192 (GRCm39)	E4238G	probably damaging	Het
Dync1i1	T	A	6: 5,923,206 (GRCm39)	D275E	probably benign	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Farp2	T	A	1: 93,546,314 (GRCm39)	L868Q	possibly damaging	Het
Gpr45	A	G	1: 43,071,950 (GRCm39)	T198A	probably benign	Het
Grk2	C	T	19: 4,336,084 (GRCm39)	V402M	possibly damaging	Het
Gsap	A	T	5: 21,495,569 (GRCm39)	D79V	probably damaging	Het
Gtf2h3	A	G	5: 124,728,482 (GRCm39)		probably benign	Het
Hus1b	C	A	13: 31,131,059 (GRCm39)	S200I	probably damaging	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ikbke	T	C	1: 131,185,770 (GRCm39)		probably benign	Het
Kat6b	A	G	14: 21,711,516 (GRCm39)	E670G	probably damaging	Het
Kif26b	T	A	1: 178,711,600 (GRCm39)	I740N	probably damaging	Het
Lhx3	G	A	2: 26,091,202 (GRCm39)	P369L	probably damaging	Het
Man2c1	T	C	9: 57,038,445 (GRCm39)	L35P	probably damaging	Het
Mical2	T	A	7: 111,981,123 (GRCm39)	S366T	possibly damaging	Het
Mroh9	A	T	1: 162,871,662 (GRCm39)	I607N	probably damaging	Het
Mybphl	T	C	3: 108,281,479 (GRCm39)	I65T	possibly damaging	Het
Myo1g	A	G	11: 6,467,874 (GRCm39)	I187T	probably damaging	Het
Myo7b	T	C	18: 32,118,161 (GRCm39)	S822G	probably benign	Het
Nkx2-4	C	A	2: 146,926,842 (GRCm39)	A142S	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odf4	C	T	11: 68,812,866 (GRCm39)	S264N	probably benign	Het
Or12k7	G	T	2: 36,958,355 (GRCm39)	V13L	probably benign	Het
Or13a17	A	T	7: 140,271,655 (GRCm39)	Y279F	probably damaging	Het
Or56b1	A	T	7: 104,285,631 (GRCm39)	H250L	probably damaging	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Parpbp	T	A	10: 87,929,564 (GRCm39)	Q428L	possibly damaging	Het
Pcdhb16	T	C	18: 37,612,887 (GRCm39)	F616L	probably damaging	Het
Pdk3	A	T	X: 92,825,846 (GRCm39)	M253K	probably damaging	Het
Pgap2	C	A	7: 101,875,674 (GRCm39)		probably benign	Het
Pkhd1l1	C	A	15: 44,414,281 (GRCm39)	N2849K	probably damaging	Het
Pprc1	A	G	19: 46,055,664 (GRCm39)		probably benign	Het
Psma2	A	G	13: 14,791,430 (GRCm39)	Y25C	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptpn5	C	A	7: 46,740,600 (GRCm39)		probably benign	Het
Scd3	C	A	19: 44,203,878 (GRCm39)	A22E	probably benign	Het
Sdr42e1	T	C	8: 118,390,347 (GRCm39)	E98G	probably benign	Het
Slc14a2	A	C	18: 78,239,068 (GRCm39)	S184A	probably benign	Het
Tmem236	A	T	2: 14,223,964 (GRCm39)	Q251L	probably benign	Het
Trappc8	T	C	18: 21,007,729 (GRCm39)	T129A	probably benign	Het
Vmn1r90	A	C	7: 14,295,894 (GRCm39)	M68R	possibly damaging	Het
Vmn2r105	A	G	17: 20,446,613 (GRCm39)	V462A	probably benign	Het
Vmn2r7	T	C	3: 64,598,110 (GRCm39)	T816A	possibly damaging	Het
Vmn2r81	T	A	10: 79,104,241 (GRCm39)	I288K	possibly damaging	Het
Zfp180	A	C	7: 23,803,998 (GRCm39)	K139T	possibly damaging	Het
Zfp932	T	C	5: 110,157,505 (GRCm39)	V401A	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
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
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'- GGTGAACCCGTGAGTTTGAG -3'
(R):5'- ATTCAGAGGTAGACCCAGAGC -3'

Sequencing Primer
(F):5'- ACCCGTGAGTTTGAGCTCGAAG -3'
(R):5'- ATCGGCGAGGTCACCCTAC -3'

Posted On

2015-08-18