Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00392:Plxna2'

7287

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 #

IGL00392

Quality Score

Status

Chromosome

Chromosomal Location

194302020-194499177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 194482876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1523 (D1523G)

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: D1523G

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

SMART Domains

Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: D1523G

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	C	7: 80,727,757 (GRCm39)	Y296H	possibly damaging	Het
Armh3	T	G	19: 45,928,927 (GRCm39)	H389P	probably benign	Het
Brca2	A	G	5: 150,464,705 (GRCm39)	T1490A	probably benign	Het
Btaf1	A	T	19: 36,987,102 (GRCm39)	D1732V	probably damaging	Het
Capzb	T	C	4: 139,016,258 (GRCm39)	I273T	probably benign	Het
Carmil1	G	A	13: 24,278,474 (GRCm39)	T165I	probably damaging	Het
Cc2d2a	A	G	5: 43,881,722 (GRCm39)		probably benign	Het
Cdh22	A	G	2: 164,954,521 (GRCm39)	Y667H	possibly damaging	Het
Celsr1	T	A	15: 85,815,546 (GRCm39)	Q1823L	probably benign	Het
Cfap210	T	C	2: 69,602,328 (GRCm39)	H361R	probably benign	Het
Cntrl	T	C	2: 35,027,826 (GRCm39)		probably benign	Het
Dhx15	A	T	5: 52,314,924 (GRCm39)		probably benign	Het
Dip2c	A	T	13: 9,543,144 (GRCm39)	D30V	probably damaging	Het
Dyrk2	T	C	10: 118,695,749 (GRCm39)	D503G	probably damaging	Het
Enpp1	T	A	10: 24,521,325 (GRCm39)	I801F	possibly damaging	Het
Fnbp4	A	C	2: 90,581,966 (GRCm39)		probably benign	Het
Klk1b5	T	A	7: 43,865,928 (GRCm39)	W2R	probably benign	Het
Lama2	T	C	10: 27,064,261 (GRCm39)	K1240R	probably benign	Het
Matn2	A	G	15: 34,403,002 (GRCm39)	N409S	probably benign	Het
Mep1b	A	T	18: 21,217,243 (GRCm39)	K121*	probably null	Het
Mettl26	T	C	17: 26,095,098 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,224,845 (GRCm39)	E574G	probably damaging	Het
Nfkbie	G	A	17: 45,871,139 (GRCm39)		probably null	Het
Nlrc4	T	C	17: 74,753,529 (GRCm39)	R285G	probably benign	Het
Pax8	T	C	2: 24,333,144 (GRCm39)	Y66C	probably damaging	Het
Pou2f1	A	G	1: 165,724,159 (GRCm39)		probably benign	Het
Prom1	A	G	5: 44,164,363 (GRCm39)		probably null	Het
Ptk6	T	C	2: 180,837,611 (GRCm39)	D436G	probably benign	Het
Robo4	T	A	9: 37,319,525 (GRCm39)	F592I	probably damaging	Het
Sec24c	C	A	14: 20,743,271 (GRCm39)	S964R	probably benign	Het
Sgcb	G	T	5: 73,793,021 (GRCm39)	N260K	possibly damaging	Het
Smarcd2	T	C	11: 106,156,730 (GRCm39)	D221G	probably damaging	Het
Unc13b	C	T	4: 43,240,285 (GRCm39)	R3569W	probably damaging	Het
Zfpl1	C	A	19: 6,131,137 (GRCm39)	R285L	possibly damaging	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
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
IGL01078:Plxna2	APN	1	194,469,001 (GRCm39)	unclassified	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

2012-04-20