Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01078:Plxna2'

50205

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxna2

Ensembl Gene

ENSMUSG00000026640

Gene Name

plexin A2

Synonyms

PlexA2, 2810428A13Rik, Plxn2, OCT

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01078

Quality Score

Status

Chromosome

Chromosomal Location

194302020-194499177 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 194469001 bp (GRCm39)

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cc2d1a	C	T	8: 84,866,894 (GRCm39)	V393M	possibly damaging	Het
Dpep3	G	A	8: 106,704,860 (GRCm39)	A150V	probably damaging	Het
Etl4	C	T	2: 20,811,342 (GRCm39)	R1510*	probably null	Het
Gm773	T	C	X: 55,242,013 (GRCm39)	E112G	probably damaging	Het
Hlcs	A	G	16: 93,934,019 (GRCm39)	I760T	probably damaging	Het
Mllt3	A	G	4: 87,798,297 (GRCm39)		probably benign	Het
Or5p56	T	A	7: 107,590,150 (GRCm39)	S193T	probably benign	Het
Trp53inp1	T	A	4: 11,165,369 (GRCm39)	V131D	probably damaging	Het
Vmn2r117	A	G	17: 23,696,778 (GRCm39)	W210R	probably damaging	Het
Zfyve19	T	A	2: 119,046,981 (GRCm39)	C350*	probably null	Het

Other mutations in Plxna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Plxna2	APN	1	194,326,965 (GRCm39)	missense	probably damaging	1.00
IGL00332:Plxna2	APN	1	194,472,138 (GRCm39)	missense	probably damaging	0.98
IGL00392:Plxna2	APN	1	194,482,876 (GRCm39)	missense	probably damaging	1.00
IGL00432:Plxna2	APN	1	194,326,404 (GRCm39)	missense	probably benign	0.03
IGL00704:Plxna2	APN	1	194,433,769 (GRCm39)	missense	probably damaging	0.99
IGL00737:Plxna2	APN	1	194,428,547 (GRCm39)	splice site	probably benign
IGL01354:Plxna2	APN	1	194,444,743 (GRCm39)	missense	probably benign	0.02
IGL01432:Plxna2	APN	1	194,326,626 (GRCm39)	missense	possibly damaging	0.58
IGL01459:Plxna2	APN	1	194,446,878 (GRCm39)	missense	probably benign	0.00
IGL01525:Plxna2	APN	1	194,394,619 (GRCm39)	missense	probably benign	0.00
IGL01656:Plxna2	APN	1	194,472,469 (GRCm39)	missense	possibly damaging	0.52
IGL01825:Plxna2	APN	1	194,471,210 (GRCm39)	missense	probably damaging	0.98
IGL01862:Plxna2	APN	1	194,326,258 (GRCm39)	missense	possibly damaging	0.87
IGL01899:Plxna2	APN	1	194,433,796 (GRCm39)	missense	probably damaging	1.00
IGL01996:Plxna2	APN	1	194,482,084 (GRCm39)	missense	probably damaging	0.99
IGL02123:Plxna2	APN	1	194,476,691 (GRCm39)	missense	probably damaging	1.00
IGL02226:Plxna2	APN	1	194,326,732 (GRCm39)	missense	probably damaging	1.00
IGL02227:Plxna2	APN	1	194,434,397 (GRCm39)	missense	probably damaging	1.00
IGL02415:Plxna2	APN	1	194,326,272 (GRCm39)	missense	probably damaging	1.00
IGL02440:Plxna2	APN	1	194,428,458 (GRCm39)	missense	probably benign	0.10
IGL02545:Plxna2	APN	1	194,468,998 (GRCm39)	unclassified	probably benign
IGL02553:Plxna2	APN	1	194,433,746 (GRCm39)	missense	probably benign	0.08
IGL02882:Plxna2	APN	1	194,444,878 (GRCm39)	missense	probably damaging	1.00
IGL02946:Plxna2	APN	1	194,431,617 (GRCm39)	splice site	probably benign
IGL03062:Plxna2	APN	1	194,444,858 (GRCm39)	missense	possibly damaging	0.72
IGL03095:Plxna2	APN	1	194,483,435 (GRCm39)	missense	probably damaging	1.00
IGL03293:Plxna2	APN	1	194,487,253 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Plxna2	UTSW	1	194,472,483 (GRCm39)	missense	probably benign	0.01
PIT4514001:Plxna2	UTSW	1	194,477,245 (GRCm39)	missense	probably benign	0.00
R0024:Plxna2	UTSW	1	194,326,303 (GRCm39)	missense	possibly damaging	0.57
R0040:Plxna2	UTSW	1	194,326,204 (GRCm39)	missense	probably benign	0.13
R0040:Plxna2	UTSW	1	194,326,204 (GRCm39)	missense	probably benign	0.13
R0063:Plxna2	UTSW	1	194,327,247 (GRCm39)	missense	probably benign	0.00
R0063:Plxna2	UTSW	1	194,327,247 (GRCm39)	missense	probably benign	0.00
R0217:Plxna2	UTSW	1	194,326,906 (GRCm39)	missense	probably damaging	1.00
R0316:Plxna2	UTSW	1	194,326,458 (GRCm39)	missense	probably damaging	1.00
R0440:Plxna2	UTSW	1	194,326,712 (GRCm39)	nonsense	probably null
R0505:Plxna2	UTSW	1	194,326,656 (GRCm39)	missense	possibly damaging	0.93
R0568:Plxna2	UTSW	1	194,433,694 (GRCm39)	missense	probably benign	0.00
R0669:Plxna2	UTSW	1	194,471,145 (GRCm39)	missense	probably damaging	0.99
R0674:Plxna2	UTSW	1	194,331,783 (GRCm39)	missense	probably benign	0.00
R0885:Plxna2	UTSW	1	194,326,864 (GRCm39)	missense	probably benign
R0898:Plxna2	UTSW	1	194,479,332 (GRCm39)	missense	probably damaging	1.00
R0940:Plxna2	UTSW	1	194,482,863 (GRCm39)	missense	probably benign	0.01
R1061:Plxna2	UTSW	1	194,326,401 (GRCm39)	missense	probably damaging	1.00
R1067:Plxna2	UTSW	1	194,462,818 (GRCm39)	splice site	probably null
R1222:Plxna2	UTSW	1	194,482,957 (GRCm39)	missense	probably damaging	1.00
R1345:Plxna2	UTSW	1	194,326,794 (GRCm39)	missense	probably damaging	1.00
R1363:Plxna2	UTSW	1	194,487,247 (GRCm39)	nonsense	probably null
R1432:Plxna2	UTSW	1	194,449,771 (GRCm39)	missense	probably benign	0.10
R1434:Plxna2	UTSW	1	194,433,848 (GRCm39)	splice site	probably benign
R1597:Plxna2	UTSW	1	194,431,614 (GRCm39)	splice site	probably benign
R1719:Plxna2	UTSW	1	194,326,678 (GRCm39)	missense	possibly damaging	0.93
R1778:Plxna2	UTSW	1	194,493,278 (GRCm39)	missense	probably benign	0.01
R1795:Plxna2	UTSW	1	194,488,611 (GRCm39)	missense	probably damaging	0.99
R1819:Plxna2	UTSW	1	194,472,494 (GRCm39)	missense	probably benign	0.03
R1926:Plxna2	UTSW	1	194,444,758 (GRCm39)	missense	probably benign	0.02
R1966:Plxna2	UTSW	1	194,327,008 (GRCm39)	missense	possibly damaging	0.91
R1987:Plxna2	UTSW	1	194,326,297 (GRCm39)	missense	probably damaging	1.00
R1988:Plxna2	UTSW	1	194,326,297 (GRCm39)	missense	probably damaging	1.00
R2034:Plxna2	UTSW	1	194,462,902 (GRCm39)	missense	probably benign	0.00
R2131:Plxna2	UTSW	1	194,327,058 (GRCm39)	missense	probably benign	0.01
R2171:Plxna2	UTSW	1	194,482,925 (GRCm39)	missense	probably damaging	1.00
R2217:Plxna2	UTSW	1	194,480,056 (GRCm39)	missense	probably damaging	1.00
R2311:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R2340:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R2342:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R2423:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R2424:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R2425:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R2842:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R2971:Plxna2	UTSW	1	194,480,039 (GRCm39)	missense	probably damaging	1.00
R3236:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R3731:Plxna2	UTSW	1	194,471,193 (GRCm39)	missense	probably benign	0.42
R3783:Plxna2	UTSW	1	194,489,829 (GRCm39)	missense	probably damaging	1.00
R3784:Plxna2	UTSW	1	194,326,925 (GRCm39)	missense	probably benign
R3787:Plxna2	UTSW	1	194,326,242 (GRCm39)	missense	probably benign	0.10
R3845:Plxna2	UTSW	1	194,476,098 (GRCm39)	missense	probably damaging	0.96
R3927:Plxna2	UTSW	1	194,428,465 (GRCm39)	missense	probably benign	0.02
R3930:Plxna2	UTSW	1	194,477,218 (GRCm39)	missense	probably benign	0.17
R3964:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R3980:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R4067:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R4120:Plxna2	UTSW	1	194,462,935 (GRCm39)	missense	probably damaging	1.00
R4231:Plxna2	UTSW	1	194,326,762 (GRCm39)	missense	probably damaging	1.00
R4257:Plxna2	UTSW	1	194,327,083 (GRCm39)	missense	probably damaging	1.00
R4396:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R4397:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R4418:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R4444:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R4446:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R4482:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R4487:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R4489:Plxna2	UTSW	1	194,431,625 (GRCm39)	missense	probably damaging	1.00
R4571:Plxna2	UTSW	1	194,493,296 (GRCm39)	missense	possibly damaging	0.91
R4622:Plxna2	UTSW	1	194,494,458 (GRCm39)	missense	probably benign
R4623:Plxna2	UTSW	1	194,494,458 (GRCm39)	missense	probably benign
R4684:Plxna2	UTSW	1	194,444,902 (GRCm39)	missense	probably benign	0.42
R4688:Plxna2	UTSW	1	194,326,753 (GRCm39)	missense	probably damaging	1.00
R4855:Plxna2	UTSW	1	194,480,040 (GRCm39)	missense	probably benign	0.39
R4876:Plxna2	UTSW	1	194,326,083 (GRCm39)	missense	probably benign	0.02
R5161:Plxna2	UTSW	1	194,433,712 (GRCm39)	missense	probably benign
R5207:Plxna2	UTSW	1	194,471,207 (GRCm39)	missense	probably benign	0.19
R5479:Plxna2	UTSW	1	194,476,181 (GRCm39)	missense	probably benign
R5931:Plxna2	UTSW	1	194,493,178 (GRCm39)	missense	probably damaging	1.00
R6026:Plxna2	UTSW	1	194,482,122 (GRCm39)	missense	probably damaging	1.00
R6029:Plxna2	UTSW	1	194,481,883 (GRCm39)	missense	probably damaging	1.00
R6029:Plxna2	UTSW	1	194,476,735 (GRCm39)	missense	probably benign	0.00
R6059:Plxna2	UTSW	1	194,493,279 (GRCm39)	missense	possibly damaging	0.79
R6238:Plxna2	UTSW	1	194,472,504 (GRCm39)	missense	probably benign	0.01
R6322:Plxna2	UTSW	1	194,436,675 (GRCm39)	missense	possibly damaging	0.89
R6668:Plxna2	UTSW	1	194,492,396 (GRCm39)	missense	possibly damaging	0.68
R6709:Plxna2	UTSW	1	194,472,074 (GRCm39)	missense	probably benign	0.01
R6748:Plxna2	UTSW	1	194,476,490 (GRCm39)	splice site	probably null
R6838:Plxna2	UTSW	1	194,487,222 (GRCm39)	missense	possibly damaging	0.90
R6844:Plxna2	UTSW	1	194,476,136 (GRCm39)	missense	probably benign	0.08
R7069:Plxna2	UTSW	1	194,476,212 (GRCm39)	missense	possibly damaging	0.51
R7122:Plxna2	UTSW	1	194,326,876 (GRCm39)	nonsense	probably null
R7145:Plxna2	UTSW	1	194,331,830 (GRCm39)	missense	probably benign	0.31
R7189:Plxna2	UTSW	1	194,483,366 (GRCm39)	missense	possibly damaging	0.58
R7207:Plxna2	UTSW	1	194,326,327 (GRCm39)	missense	probably damaging	1.00
R7232:Plxna2	UTSW	1	194,394,568 (GRCm39)	missense	probably damaging	1.00
R7234:Plxna2	UTSW	1	194,488,698 (GRCm39)	missense	probably damaging	0.96
R7246:Plxna2	UTSW	1	194,326,590 (GRCm39)	missense	possibly damaging	0.74
R7255:Plxna2	UTSW	1	194,434,411 (GRCm39)	missense	probably benign	0.03
R7283:Plxna2	UTSW	1	194,327,191 (GRCm39)	missense	probably damaging	0.99
R7288:Plxna2	UTSW	1	194,479,227 (GRCm39)	missense	probably damaging	1.00
R7361:Plxna2	UTSW	1	194,482,087 (GRCm39)	missense	probably damaging	1.00
R7424:Plxna2	UTSW	1	194,488,647 (GRCm39)	missense	probably damaging	0.98
R7501:Plxna2	UTSW	1	194,326,203 (GRCm39)	missense	possibly damaging	0.95
R7528:Plxna2	UTSW	1	194,494,464 (GRCm39)	missense	probably damaging	1.00
R7529:Plxna2	UTSW	1	194,326,179 (GRCm39)	missense	probably benign	0.25
R7532:Plxna2	UTSW	1	194,327,127 (GRCm39)	missense	probably benign	0.13
R7959:Plxna2	UTSW	1	194,493,270 (GRCm39)	missense	probably damaging	1.00
R7959:Plxna2	UTSW	1	194,476,172 (GRCm39)	frame shift	probably null
R7960:Plxna2	UTSW	1	194,476,172 (GRCm39)	frame shift	probably null
R8261:Plxna2	UTSW	1	194,431,724 (GRCm39)	missense	probably damaging	1.00
R8301:Plxna2	UTSW	1	194,472,483 (GRCm39)	missense	probably benign	0.01
R8463:Plxna2	UTSW	1	194,326,354 (GRCm39)	missense	probably damaging	1.00
R8519:Plxna2	UTSW	1	194,476,266 (GRCm39)	missense	probably damaging	1.00
R8836:Plxna2	UTSW	1	194,479,243 (GRCm39)	missense	possibly damaging	0.94
R9010:Plxna2	UTSW	1	194,471,217 (GRCm39)	missense	possibly damaging	0.95
R9034:Plxna2	UTSW	1	194,476,197 (GRCm39)	missense	probably damaging	1.00
R9254:Plxna2	UTSW	1	194,492,474 (GRCm39)	missense	probably damaging	1.00
R9274:Plxna2	UTSW	1	194,471,136 (GRCm39)	missense	probably damaging	1.00
R9379:Plxna2	UTSW	1	194,492,474 (GRCm39)	missense	probably damaging	1.00
R9385:Plxna2	UTSW	1	194,431,724 (GRCm39)	missense	possibly damaging	0.95
R9422:Plxna2	UTSW	1	194,326,730 (GRCm39)	missense	probably damaging	1.00
R9451:Plxna2	UTSW	1	194,326,692 (GRCm39)	missense	probably benign	0.05
R9484:Plxna2	UTSW	1	194,327,202 (GRCm39)	missense	probably damaging	1.00
X0027:Plxna2	UTSW	1	194,326,741 (GRCm39)	missense	probably damaging	1.00
Z1088:Plxna2	UTSW	1	194,446,847 (GRCm39)	missense	probably benign	0.06
Z1088:Plxna2	UTSW	1	194,326,749 (GRCm39)	missense	possibly damaging	0.56

Posted On

2013-06-21