Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02123:Plxna2'

280732

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 #

IGL02123

Quality Score

Status

Chromosome

Chromosomal Location

194302020-194499177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 194476691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1169 (L1169P)

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: L1169P

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

SMART Domains

Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: L1169P

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	C	7: 28,328,914 (GRCm39)	T31A	probably benign	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ampd3	T	C	7: 110,401,766 (GRCm39)	V429A	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cldn11	C	T	3: 31,204,336 (GRCm39)	T13M	probably benign	Het
Cngb3	C	A	4: 19,367,801 (GRCm39)	Q237K	probably damaging	Het
Col12a1	A	G	9: 79,569,740 (GRCm39)		probably null	Het
Copa	T	A	1: 171,939,695 (GRCm39)	L621H	probably damaging	Het
Dbn1	T	C	13: 55,624,553 (GRCm39)	D332G	possibly damaging	Het
Drc1	T	C	5: 30,504,448 (GRCm39)	S197P	probably benign	Het
E2f2	A	G	4: 135,900,159 (GRCm39)	N23S	probably benign	Het
Epb41l2	T	A	10: 25,336,742 (GRCm39)	L246H	probably damaging	Het
Fam13b	G	A	18: 34,578,671 (GRCm39)		probably benign	Het
Fam184b	A	G	5: 45,796,493 (GRCm39)	M30T	possibly damaging	Het
Fn3krp	G	A	11: 121,320,270 (GRCm39)	R205H	probably benign	Het
Fndc11	A	G	2: 180,863,443 (GRCm39)	I83V	probably benign	Het
Garin2	T	C	12: 78,780,981 (GRCm39)		probably null	Het
Gm3629	C	T	14: 17,834,541 (GRCm39)	R150H	probably benign	Het
Hs6st1	T	A	1: 36,142,952 (GRCm39)	F296I	possibly damaging	Het
Igsf10	T	A	3: 59,226,081 (GRCm39)	I2531F	probably damaging	Het
Klhl40	T	C	9: 121,608,989 (GRCm39)	F385L	probably benign	Het
Krt87	A	T	15: 101,385,466 (GRCm39)	M302K	possibly damaging	Het
Lrrc43	A	T	5: 123,632,342 (GRCm39)	I162F	probably damaging	Het
Map3k21	A	G	8: 126,652,849 (GRCm39)	E325G	probably damaging	Het
Mpo	A	T	11: 87,685,621 (GRCm39)	N33I	probably benign	Het
Mpp4	A	G	1: 59,200,625 (GRCm39)		probably null	Het
Muc5b	C	T	7: 141,417,494 (GRCm39)	T3480I	possibly damaging	Het
Myo6	T	C	9: 80,171,554 (GRCm39)		probably benign	Het
Nostrin	C	T	2: 68,986,453 (GRCm39)		probably benign	Het
Nphp1	T	C	2: 127,595,969 (GRCm39)	M498V	probably benign	Het
Nr4a2	A	T	2: 57,001,667 (GRCm39)	L199Q	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,873 (GRCm39)	N598I	probably damaging	Het
Pex19	T	A	1: 171,961,853 (GRCm39)	M207K	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Plekha2	T	C	8: 25,532,745 (GRCm39)	K409E	probably damaging	Het
Pmpcb	A	G	5: 21,948,373 (GRCm39)		probably benign	Het
Ptrh1	T	C	2: 32,666,826 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,288,265 (GRCm39)	E439G	probably damaging	Het
Ric1	C	T	19: 29,572,200 (GRCm39)	A665V	probably benign	Het
Stx18	T	A	5: 38,285,447 (GRCm39)	V219D	probably damaging	Het
Taf7	A	T	18: 37,775,533 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,415,988 (GRCm39)	I895T	possibly damaging	Het
Tbc1d8	A	G	1: 39,419,317 (GRCm39)	S766P	probably damaging	Het
Tekt3	C	A	11: 62,974,766 (GRCm39)	H362N	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tmem94	T	C	11: 115,678,364 (GRCm39)	S196P	possibly damaging	Het
Vmn2r14	T	C	5: 109,367,933 (GRCm39)	Y353C	probably damaging	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vmn2r90	T	G	17: 17,953,744 (GRCm39)	M636R	probably benign	Het
Vmn2r98	T	A	17: 19,300,941 (GRCm39)	C648S	probably damaging	Het
Zfpm2	G	A	15: 40,965,591 (GRCm39)	C560Y	probably 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
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
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
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

2015-04-16