Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03095:Plxna2'

418531

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 #

IGL03095

Quality Score

Status

Chromosome

Chromosomal Location

194618218-194816869 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 194801127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1582 (N1582S)

Ref Sequence

ENSEMBL: ENSMUSP00000027952 (fasta)

Gene Model

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

AlphaFold

P70207

PDB Structure

Plexin A2 / Semaphorin 6A complex [X-RAY DIFFRACTION]
Mouse Plexin A2 extracellular domain [X-RAY DIFFRACTION]
Mouse Plexin A2, extracellular domains 1-4 [X-RAY DIFFRACTION]
Plexin A2 in complex with Semaphorin 6A [X-RAY DIFFRACTION]
Complex of mouse Plexin A2 - Semaphorin 3A - Neuropilin-1 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027952
AA Change: N1582S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: N1582S

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

noncoding transcript
Transcript: ENSMUST00000124785

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bche	A	G	3: 73,701,883 (GRCm38)	L70P	probably damaging	Het
Cacna1h	C	A	17: 25,383,778 (GRCm38)		probably benign	Het
Ccdc60	A	T	5: 116,146,215 (GRCm38)		probably benign	Het
Cep152	T	C	2: 125,618,451 (GRCm38)	N194D	probably benign	Het
Chodl	T	A	16: 78,941,433 (GRCm38)	D96E	probably damaging	Het
Clca3b	C	A	3: 144,846,910 (GRCm38)	G122*	probably null	Het
Crybg1	T	C	10: 43,989,249 (GRCm38)	I1411V	probably damaging	Het
Dock9	A	C	14: 121,639,528 (GRCm38)	V477G	probably damaging	Het
Fam149a	T	A	8: 45,341,228 (GRCm38)	E632D	probably damaging	Het
Gabra4	A	G	5: 71,624,015 (GRCm38)	V351A	probably damaging	Het
Gen1	T	A	12: 11,248,264 (GRCm38)	I319L	probably benign	Het
Gne	C	A	4: 44,055,211 (GRCm38)	D255Y	probably damaging	Het
Gpr146	A	G	5: 139,392,950 (GRCm38)	H169R	probably benign	Het
Htatip2	A	G	7: 49,759,774 (GRCm38)	E92G	probably benign	Het
Ipcef1	A	G	10: 6,919,732 (GRCm38)	S223P	probably damaging	Het
Kcnmb2	T	A	3: 32,198,127 (GRCm38)	*37R	probably null	Het
Lin54	A	T	5: 100,454,478 (GRCm38)	V400E	probably damaging	Het
Ltbp1	C	A	17: 75,282,418 (GRCm38)	Q511K	possibly damaging	Het
Lyg1	A	G	1: 37,950,768 (GRCm38)		probably benign	Het
Nampt	T	A	12: 32,842,686 (GRCm38)	V324D	possibly damaging	Het
Nat8b-ps	T	G	6: 85,932,968 (GRCm38)		probably benign	Het
Neb	G	A	2: 52,169,088 (GRCm38)	H213Y	probably damaging	Het
Nfkb1	T	C	3: 135,618,830 (GRCm38)	E179G	possibly damaging	Het
Nlrc5	T	A	8: 94,521,908 (GRCm38)		probably benign	Het
Olfr102	T	A	17: 37,313,773 (GRCm38)	I204F	probably benign	Het
Olfr1085	A	T	2: 86,658,431 (GRCm38)	L9Q	possibly damaging	Het
Pcdh15	G	A	10: 74,355,874 (GRCm38)	V601M	probably damaging	Het
Pigc	G	A	1: 161,970,776 (GRCm38)	R109Q	possibly damaging	Het
Pros1	C	T	16: 62,907,769 (GRCm38)	Q279*	probably null	Het
Psmb5	A	G	14: 54,616,557 (GRCm38)	S155P	probably damaging	Het
Rock2	T	A	12: 16,953,340 (GRCm38)	D393E	probably benign	Het
Slc25a21	T	C	12: 56,738,625 (GRCm38)	T156A	probably benign	Het
Slc44a1	T	A	4: 53,536,374 (GRCm38)	Y183*	probably null	Het
Sytl2	C	T	7: 90,392,434 (GRCm38)	P580L	probably damaging	Het
Tktl2	G	T	8: 66,512,284 (GRCm38)	V165F	probably damaging	Het
Trim55	A	G	3: 19,674,465 (GRCm38)	E480G	probably benign	Het
Vmn2r92	T	A	17: 18,166,710 (GRCm38)	S104T	possibly damaging	Het
Vps51	C	T	19: 6,070,048 (GRCm38)	R490H	probably damaging	Het
Wdr43	G	A	17: 71,641,287 (GRCm38)	V391I	probably benign	Het
Zranb1	T	G	7: 132,949,906 (GRCm38)	Y121*	probably null	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
IGL02545:Plxna2	APN	1	194,786,690 (GRCm38)	unclassified	probably benign
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
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

2016-08-02