Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03293:Plxna2'

415969

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 #

IGL03293

Quality Score

Status

Chromosome

Chromosomal Location

194618218-194816869 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 194804945 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1603 (S1603P)

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: S1603P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: S1603P

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	A	G	10: 3,125,699 (GRCm38)		noncoding transcript	Het
A830018L16Rik	T	A	1: 11,545,151 (GRCm38)		probably null	Het
Akr1c14	C	T	13: 4,079,130 (GRCm38)	R45*	probably null	Het
Ccdc62	T	A	5: 123,951,225 (GRCm38)	L309I	possibly damaging	Het
Ccdc66	T	A	14: 27,490,671 (GRCm38)	N565I	probably damaging	Het
Cerkl	G	T	2: 79,342,375 (GRCm38)	A318E	probably damaging	Het
Clec4n	A	T	6: 123,232,146 (GRCm38)	T57S	probably benign	Het
Cluh	A	G	11: 74,665,752 (GRCm38)	E921G	probably benign	Het
Cnbd1	C	T	4: 18,860,565 (GRCm38)	E394K	possibly damaging	Het
Dmgdh	G	T	13: 93,706,701 (GRCm38)	M348I	probably benign	Het
Dnajc13	G	A	9: 104,174,426 (GRCm38)	S1744L	possibly damaging	Het
Dspp	A	T	5: 104,177,561 (GRCm38)	S597C	unknown	Het
Dync1h1	A	T	12: 110,628,734 (GRCm38)	N1360I	probably benign	Het
Eepd1	A	G	9: 25,603,412 (GRCm38)	H505R	possibly damaging	Het
Gcnt7	T	C	2: 172,454,383 (GRCm38)	T174A	possibly damaging	Het
Gnb1	T	C	4: 155,540,547 (GRCm38)		probably benign	Het
Gpam	A	G	19: 55,071,016 (GRCm38)	S800P	probably benign	Het
Gsr	T	C	8: 33,694,996 (GRCm38)		probably benign	Het
Herc2	A	G	7: 56,155,130 (GRCm38)	K2302R	probably benign	Het
Hipk1	C	A	3: 103,777,259 (GRCm38)	A347S	possibly damaging	Het
Iqgap2	T	C	13: 95,731,434 (GRCm38)	N222S	probably damaging	Het
Marco	T	A	1: 120,494,795 (GRCm38)	M46L	probably benign	Het
Morc2b	A	T	17: 33,138,363 (GRCm38)	V145D	probably damaging	Het
Mprip	C	A	11: 59,696,163 (GRCm38)	P54Q	probably damaging	Het
Ndufv2	A	T	17: 66,083,449 (GRCm38)	C175*	probably null	Het
Olfr1181	T	C	2: 88,423,227 (GRCm38)	D266G	probably damaging	Het
Olfr272	A	G	4: 52,910,835 (GRCm38)	*320Q	probably null	Het
Orc3	A	C	4: 34,595,210 (GRCm38)	I195S	probably damaging	Het
Otos	C	A	1: 92,644,413 (GRCm38)	E64*	probably null	Het
Rlf	A	T	4: 121,148,330 (GRCm38)	I1151N	probably benign	Het
Scaper	A	G	9: 55,874,823 (GRCm38)	V283A	probably benign	Het
Sdccag3	A	T	2: 26,387,676 (GRCm38)		probably benign	Het
Slc25a43	A	G	X: 36,775,599 (GRCm38)	T270A	probably benign	Het
Slc35a5	A	G	16: 45,143,781 (GRCm38)	V78A	probably damaging	Het
Smurf1	A	T	5: 144,881,799 (GRCm38)	D636E	probably benign	Het
Tchhl1	A	T	3: 93,470,275 (GRCm38)	E95D	probably damaging	Het
Tcp10a	A	G	17: 7,326,492 (GRCm38)	E72G	possibly damaging	Het
Tmem232	A	G	17: 65,450,374 (GRCm38)	S275P	probably damaging	Het
Ugt1a5	T	C	1: 88,166,818 (GRCm38)	F256S	probably damaging	Het
Vmn2r5	A	G	3: 64,491,326 (GRCm38)	V744A	probably benign	Het
Vmn2r53	A	T	7: 12,598,422 (GRCm38)	S433R	probably benign	Het
Vmn2r9	A	T	5: 108,848,131 (GRCm38)	I217N	probably damaging	Het
Wdr83	G	T	8: 85,080,587 (GRCm38)	A10E	probably benign	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
IGL03095:Plxna2	APN	1	194,801,127 (GRCm38)	missense	probably damaging	1.00
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