Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02545:Plxna2'

297803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxna2

Ensembl Gene

ENSMUSG00000026640

Gene Name

plexin A2

Synonyms

2810428A13Rik, OCT, PlexA2, Plxn2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02545

Quality Score

Status

Chromosome

Chromosomal Location

194618218-194816869 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 194786690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027952]

AlphaFold

P70207

Predicted Effect

probably benign
Transcript: ENSMUST00000027952

SMART Domains

Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640

Domain	Start	End	E-Value	Type
low complexity region	16	29	N/A	INTRINSIC
Sema	50	492	1.65e-132	SMART
PSI	510	560	8e-12	SMART
PSI	655	702	6.35e-6	SMART
PSI	803	856	1.24e-8	SMART
IPT	857	952	6.36e-21	SMART
IPT	953	1038	1.02e-24	SMART
IPT	1040	1140	1.48e-21	SMART
IPT	1142	1237	8.81e-6	SMART
transmembrane domain	1238	1260	N/A	INTRINSIC
Pfam:Plexin_cytopl	1311	1864	1.9e-261	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135664

SMART Domains

Protein: ENSMUSP00000118087
Gene: ENSMUSG00000026640

Domain	Start	End	E-Value	Type
PSI	9	62	1.24e-8	SMART

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 member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 160,075,424 (GRCm38)	L88P	probably damaging	Het
Adamtsl4	G	A	3: 95,683,374 (GRCm38)	Q354*	probably null	Het
Aox3	A	C	1: 58,183,486 (GRCm38)	D1146A	probably damaging	Het
Ap2a1	T	A	7: 44,906,426 (GRCm38)	H340L	probably damaging	Het
Ccni	G	T	5: 93,187,777 (GRCm38)	F167L	probably benign	Het
Ctcf	A	G	8: 105,664,381 (GRCm38)	T207A	probably benign	Het
D930020B18Rik	A	G	10: 121,689,933 (GRCm38)	H580R	possibly damaging	Het
Dock3	A	T	9: 107,062,072 (GRCm38)	L159Q	probably damaging	Het
Dync1i2	T	C	2: 71,262,751 (GRCm38)	I630T	possibly damaging	Het
Fchsd2	A	G	7: 101,198,508 (GRCm38)	T202A	probably benign	Het
Gdi2	A	G	13: 3,557,009 (GRCm38)	Y214C	probably damaging	Het
Gna14	T	A	19: 16,533,726 (GRCm38)	S46R	probably damaging	Het
Hfm1	A	G	5: 106,895,287 (GRCm38)	I627T	probably damaging	Het
Ighv1-19	G	A	12: 114,708,739 (GRCm38)	A87V	probably damaging	Het
Itch	G	A	2: 155,172,586 (GRCm38)		probably null	Het
Klrb1b	T	C	6: 128,820,309 (GRCm38)	Q72R	possibly damaging	Het
Lrpprc	A	G	17: 84,775,425 (GRCm38)	F144L	probably benign	Het
Lrrc7	A	G	3: 158,185,374 (GRCm38)		probably benign	Het
Ndufa11	T	A	17: 56,721,338 (GRCm38)	F72L	probably damaging	Het
Neu1	T	A	17: 34,931,501 (GRCm38)	V32E	probably benign	Het
Olfr181	T	A	16: 58,926,470 (GRCm38)	I34F	possibly damaging	Het
Osmr	T	C	15: 6,823,579 (GRCm38)	K611E	probably damaging	Het
Pcdh20	A	G	14: 88,468,844 (GRCm38)	V340A	possibly damaging	Het
Pih1d3	A	G	1: 31,223,096 (GRCm38)	D53G	probably damaging	Het
Pou6f1	C	T	15: 100,583,425 (GRCm38)	W210*	probably null	Het
Ppat	A	G	5: 76,915,232 (GRCm38)	Y511H	probably damaging	Het
Psme4	T	G	11: 30,841,586 (GRCm38)	V1147G	possibly damaging	Het
Scap	C	T	9: 110,378,690 (GRCm38)	T489I	probably benign	Het
Sptb	A	G	12: 76,607,980 (GRCm38)		probably null	Het
Tcl1b5	T	A	12: 105,180,037 (GRCm38)		probably benign	Het
Trim54	T	A	5: 31,132,165 (GRCm38)		probably benign	Het
Unc13c	C	T	9: 73,481,075 (GRCm38)	R2143Q	probably damaging	Het
Vmn1r56	A	T	7: 5,196,114 (GRCm38)	V168D	probably benign	Het
Vmn2r66	A	T	7: 85,006,590 (GRCm38)	M406K	possibly damaging	Het

Other mutations in Plxna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Plxna2	APN	1	194,644,657 (GRCm38)	missense	probably damaging	1.00
IGL00332:Plxna2	APN	1	194,789,830 (GRCm38)	missense	probably damaging	0.98
IGL00392:Plxna2	APN	1	194,800,568 (GRCm38)	missense	probably damaging	1.00
IGL00432:Plxna2	APN	1	194,644,096 (GRCm38)	missense	probably benign	0.03
IGL00704:Plxna2	APN	1	194,751,461 (GRCm38)	missense	probably damaging	0.99
IGL00737:Plxna2	APN	1	194,746,239 (GRCm38)	splice site	probably benign
IGL01078:Plxna2	APN	1	194,786,693 (GRCm38)	unclassified	probably benign
IGL01354:Plxna2	APN	1	194,762,435 (GRCm38)	missense	probably benign	0.02
IGL01432:Plxna2	APN	1	194,644,318 (GRCm38)	missense	possibly damaging	0.58
IGL01459:Plxna2	APN	1	194,764,570 (GRCm38)	missense	probably benign	0.00
IGL01525:Plxna2	APN	1	194,712,311 (GRCm38)	missense	probably benign	0.00
IGL01656:Plxna2	APN	1	194,790,161 (GRCm38)	missense	possibly damaging	0.52
IGL01825:Plxna2	APN	1	194,788,902 (GRCm38)	missense	probably damaging	0.98
IGL01862:Plxna2	APN	1	194,643,950 (GRCm38)	missense	possibly damaging	0.87
IGL01899:Plxna2	APN	1	194,751,488 (GRCm38)	missense	probably damaging	1.00
IGL01996:Plxna2	APN	1	194,799,776 (GRCm38)	missense	probably damaging	0.99
IGL02123:Plxna2	APN	1	194,794,383 (GRCm38)	missense	probably damaging	1.00
IGL02226:Plxna2	APN	1	194,644,424 (GRCm38)	missense	probably damaging	1.00
IGL02227:Plxna2	APN	1	194,752,089 (GRCm38)	missense	probably damaging	1.00
IGL02415:Plxna2	APN	1	194,643,964 (GRCm38)	missense	probably damaging	1.00
IGL02440:Plxna2	APN	1	194,746,150 (GRCm38)	missense	probably benign	0.10
IGL02553:Plxna2	APN	1	194,751,438 (GRCm38)	missense	probably benign	0.08
IGL02882:Plxna2	APN	1	194,762,570 (GRCm38)	missense	probably damaging	1.00
IGL02946:Plxna2	APN	1	194,749,309 (GRCm38)	splice site	probably benign
IGL03062:Plxna2	APN	1	194,762,550 (GRCm38)	missense	possibly damaging	0.72
IGL03095:Plxna2	APN	1	194,801,127 (GRCm38)	missense	probably damaging	1.00
IGL03293:Plxna2	APN	1	194,804,945 (GRCm38)	missense	probably damaging	0.99
G1Funyon:Plxna2	UTSW	1	194,790,175 (GRCm38)	missense	probably benign	0.01
PIT4514001:Plxna2	UTSW	1	194,794,937 (GRCm38)	missense	probably benign	0.00
R0024:Plxna2	UTSW	1	194,643,995 (GRCm38)	missense	possibly damaging	0.57
R0040:Plxna2	UTSW	1	194,643,896 (GRCm38)	missense	probably benign	0.13
R0040:Plxna2	UTSW	1	194,643,896 (GRCm38)	missense	probably benign	0.13
R0063:Plxna2	UTSW	1	194,644,939 (GRCm38)	missense	probably benign	0.00
R0063:Plxna2	UTSW	1	194,644,939 (GRCm38)	missense	probably benign	0.00
R0217:Plxna2	UTSW	1	194,644,598 (GRCm38)	missense	probably damaging	1.00
R0316:Plxna2	UTSW	1	194,644,150 (GRCm38)	missense	probably damaging	1.00
R0440:Plxna2	UTSW	1	194,644,404 (GRCm38)	nonsense	probably null
R0505:Plxna2	UTSW	1	194,644,348 (GRCm38)	missense	possibly damaging	0.93
R0568:Plxna2	UTSW	1	194,751,386 (GRCm38)	missense	probably benign	0.00
R0669:Plxna2	UTSW	1	194,788,837 (GRCm38)	missense	probably damaging	0.99
R0674:Plxna2	UTSW	1	194,649,475 (GRCm38)	missense	probably benign	0.00
R0885:Plxna2	UTSW	1	194,644,556 (GRCm38)	missense	probably benign
R0898:Plxna2	UTSW	1	194,797,024 (GRCm38)	missense	probably damaging	1.00
R0940:Plxna2	UTSW	1	194,800,555 (GRCm38)	missense	probably benign	0.01
R1061:Plxna2	UTSW	1	194,644,093 (GRCm38)	missense	probably damaging	1.00
R1067:Plxna2	UTSW	1	194,780,510 (GRCm38)	splice site	probably null
R1222:Plxna2	UTSW	1	194,800,649 (GRCm38)	missense	probably damaging	1.00
R1345:Plxna2	UTSW	1	194,644,486 (GRCm38)	missense	probably damaging	1.00
R1363:Plxna2	UTSW	1	194,804,939 (GRCm38)	nonsense	probably null
R1432:Plxna2	UTSW	1	194,767,463 (GRCm38)	missense	probably benign	0.10
R1434:Plxna2	UTSW	1	194,751,540 (GRCm38)	splice site	probably benign
R1597:Plxna2	UTSW	1	194,749,306 (GRCm38)	splice site	probably benign
R1719:Plxna2	UTSW	1	194,644,370 (GRCm38)	missense	possibly damaging	0.93
R1778:Plxna2	UTSW	1	194,810,970 (GRCm38)	missense	probably benign	0.01
R1795:Plxna2	UTSW	1	194,806,303 (GRCm38)	missense	probably damaging	0.99
R1819:Plxna2	UTSW	1	194,790,186 (GRCm38)	missense	probably benign	0.03
R1926:Plxna2	UTSW	1	194,762,450 (GRCm38)	missense	probably benign	0.02
R1966:Plxna2	UTSW	1	194,644,700 (GRCm38)	missense	possibly damaging	0.91
R1987:Plxna2	UTSW	1	194,643,989 (GRCm38)	missense	probably damaging	1.00
R1988:Plxna2	UTSW	1	194,643,989 (GRCm38)	missense	probably damaging	1.00
R2034:Plxna2	UTSW	1	194,780,594 (GRCm38)	missense	probably benign	0.00
R2131:Plxna2	UTSW	1	194,644,750 (GRCm38)	missense	probably benign	0.01
R2171:Plxna2	UTSW	1	194,800,617 (GRCm38)	missense	probably damaging	1.00
R2217:Plxna2	UTSW	1	194,797,748 (GRCm38)	missense	probably damaging	1.00
R2311:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R2340:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R2342:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R2423:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R2424:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R2425:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R2842:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R2971:Plxna2	UTSW	1	194,797,731 (GRCm38)	missense	probably damaging	1.00
R3236:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R3731:Plxna2	UTSW	1	194,788,885 (GRCm38)	missense	probably benign	0.42
R3783:Plxna2	UTSW	1	194,807,521 (GRCm38)	missense	probably damaging	1.00
R3784:Plxna2	UTSW	1	194,644,617 (GRCm38)	missense	probably benign
R3787:Plxna2	UTSW	1	194,643,934 (GRCm38)	missense	probably benign	0.10
R3845:Plxna2	UTSW	1	194,793,790 (GRCm38)	missense	probably damaging	0.96
R3927:Plxna2	UTSW	1	194,746,157 (GRCm38)	missense	probably benign	0.02
R3930:Plxna2	UTSW	1	194,794,910 (GRCm38)	missense	probably benign	0.17
R3964:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R3980:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R4067:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R4120:Plxna2	UTSW	1	194,780,627 (GRCm38)	missense	probably damaging	1.00
R4231:Plxna2	UTSW	1	194,644,454 (GRCm38)	missense	probably damaging	1.00
R4257:Plxna2	UTSW	1	194,644,775 (GRCm38)	missense	probably damaging	1.00
R4396:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R4397:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R4418:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R4444:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R4446:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R4482:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R4487:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R4489:Plxna2	UTSW	1	194,749,317 (GRCm38)	missense	probably damaging	1.00
R4571:Plxna2	UTSW	1	194,810,988 (GRCm38)	missense	possibly damaging	0.91
R4622:Plxna2	UTSW	1	194,812,150 (GRCm38)	missense	probably benign
R4623:Plxna2	UTSW	1	194,812,150 (GRCm38)	missense	probably benign
R4684:Plxna2	UTSW	1	194,762,594 (GRCm38)	missense	probably benign	0.42
R4688:Plxna2	UTSW	1	194,644,445 (GRCm38)	missense	probably damaging	1.00
R4855:Plxna2	UTSW	1	194,797,732 (GRCm38)	missense	probably benign	0.39
R4876:Plxna2	UTSW	1	194,643,775 (GRCm38)	missense	probably benign	0.02
R5161:Plxna2	UTSW	1	194,751,404 (GRCm38)	missense	probably benign
R5207:Plxna2	UTSW	1	194,788,899 (GRCm38)	missense	probably benign	0.19
R5479:Plxna2	UTSW	1	194,793,873 (GRCm38)	missense	probably benign
R5931:Plxna2	UTSW	1	194,810,870 (GRCm38)	missense	probably damaging	1.00
R6026:Plxna2	UTSW	1	194,799,814 (GRCm38)	missense	probably damaging	1.00
R6029:Plxna2	UTSW	1	194,799,575 (GRCm38)	missense	probably damaging	1.00
R6029:Plxna2	UTSW	1	194,794,427 (GRCm38)	missense	probably benign	0.00
R6059:Plxna2	UTSW	1	194,810,971 (GRCm38)	missense	possibly damaging	0.79
R6238:Plxna2	UTSW	1	194,790,196 (GRCm38)	missense	probably benign	0.01
R6322:Plxna2	UTSW	1	194,754,367 (GRCm38)	missense	possibly damaging	0.89
R6668:Plxna2	UTSW	1	194,810,088 (GRCm38)	missense	possibly damaging	0.68
R6709:Plxna2	UTSW	1	194,789,766 (GRCm38)	missense	probably benign	0.01
R6748:Plxna2	UTSW	1	194,794,182 (GRCm38)	splice site	probably null
R6838:Plxna2	UTSW	1	194,804,914 (GRCm38)	missense	possibly damaging	0.90
R6844:Plxna2	UTSW	1	194,793,828 (GRCm38)	missense	probably benign	0.08
R7069:Plxna2	UTSW	1	194,793,904 (GRCm38)	missense	possibly damaging	0.51
R7122:Plxna2	UTSW	1	194,644,568 (GRCm38)	nonsense	probably null
R7145:Plxna2	UTSW	1	194,649,522 (GRCm38)	missense	probably benign	0.31
R7189:Plxna2	UTSW	1	194,801,058 (GRCm38)	missense	possibly damaging	0.58
R7207:Plxna2	UTSW	1	194,644,019 (GRCm38)	missense	probably damaging	1.00
R7232:Plxna2	UTSW	1	194,712,260 (GRCm38)	missense	probably damaging	1.00
R7234:Plxna2	UTSW	1	194,806,390 (GRCm38)	missense	probably damaging	0.96
R7246:Plxna2	UTSW	1	194,644,282 (GRCm38)	missense	possibly damaging	0.74
R7255:Plxna2	UTSW	1	194,752,103 (GRCm38)	missense	probably benign	0.03
R7283:Plxna2	UTSW	1	194,644,883 (GRCm38)	missense	probably damaging	0.99
R7288:Plxna2	UTSW	1	194,796,919 (GRCm38)	missense	probably damaging	1.00
R7361:Plxna2	UTSW	1	194,799,779 (GRCm38)	missense	probably damaging	1.00
R7424:Plxna2	UTSW	1	194,806,339 (GRCm38)	missense	probably damaging	0.98
R7501:Plxna2	UTSW	1	194,643,895 (GRCm38)	missense	possibly damaging	0.95
R7528:Plxna2	UTSW	1	194,812,156 (GRCm38)	missense	probably damaging	1.00
R7529:Plxna2	UTSW	1	194,643,871 (GRCm38)	missense	probably benign	0.25
R7532:Plxna2	UTSW	1	194,644,819 (GRCm38)	missense	probably benign	0.13
R7959:Plxna2	UTSW	1	194,810,962 (GRCm38)	missense	probably damaging	1.00
R7959:Plxna2	UTSW	1	194,793,864 (GRCm38)	frame shift	probably null
R7960:Plxna2	UTSW	1	194,793,864 (GRCm38)	frame shift	probably null
R8261:Plxna2	UTSW	1	194,749,416 (GRCm38)	missense	probably damaging	1.00
R8301:Plxna2	UTSW	1	194,790,175 (GRCm38)	missense	probably benign	0.01
R8463:Plxna2	UTSW	1	194,644,046 (GRCm38)	missense	probably damaging	1.00
R8519:Plxna2	UTSW	1	194,793,958 (GRCm38)	missense	probably damaging	1.00
R8836:Plxna2	UTSW	1	194,796,935 (GRCm38)	missense	possibly damaging	0.94
R9010:Plxna2	UTSW	1	194,788,909 (GRCm38)	missense	possibly damaging	0.95
R9034:Plxna2	UTSW	1	194,793,889 (GRCm38)	missense	probably damaging	1.00
R9254:Plxna2	UTSW	1	194,810,166 (GRCm38)	missense	probably damaging	1.00
R9274:Plxna2	UTSW	1	194,788,828 (GRCm38)	missense	probably damaging	1.00
R9379:Plxna2	UTSW	1	194,810,166 (GRCm38)	missense	probably damaging	1.00
R9385:Plxna2	UTSW	1	194,749,416 (GRCm38)	missense	possibly damaging	0.95
R9422:Plxna2	UTSW	1	194,644,422 (GRCm38)	missense	probably damaging	1.00
R9451:Plxna2	UTSW	1	194,644,384 (GRCm38)	missense	probably benign	0.05
R9484:Plxna2	UTSW	1	194,644,894 (GRCm38)	missense	probably damaging	1.00
X0027:Plxna2	UTSW	1	194,644,433 (GRCm38)	missense	probably damaging	1.00
Z1088:Plxna2	UTSW	1	194,764,539 (GRCm38)	missense	probably benign	0.06
Z1088:Plxna2	UTSW	1	194,644,441 (GRCm38)	missense	possibly damaging	0.56

Posted On

2015-04-16