Mutagenetix > Incidental Mutation

Incidental Mutation 'R2423:Plxna2'

249423

Institutional Source

Beutler Lab

Gene Symbol

Plxna2

Ensembl Gene

ENSMUSG00000026640

Gene Name

plexin A2

Synonyms

2810428A13Rik, OCT, PlexA2, Plxn2

MMRRC Submission

040385-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2423 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

194618218-194816869 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 194749317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 538 (S538F)

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: S538F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: S538F

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

Meta Mutation Damage Score

0.7688

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amer2	T	C	14: 60,379,207 (GRCm38)	S284P	possibly damaging	Het
Ap5z1	T	C	5: 142,476,777 (GRCm38)	V614A	probably benign	Het
Arhgap9	A	T	10: 127,327,124 (GRCm38)		probably null	Het
Brf1	G	A	12: 113,000,199 (GRCm38)	A53V	probably benign	Het
Cyp1a2	C	T	9: 57,679,949 (GRCm38)	R353Q	probably damaging	Het
Deup1	G	T	9: 15,592,458 (GRCm38)	S269*	probably null	Het
F11r	T	A	1: 171,461,623 (GRCm38)	Y218N	possibly damaging	Het
Gjd4	G	T	18: 9,280,811 (GRCm38)	S89*	probably null	Het
Mapkbp1	A	T	2: 120,024,590 (GRCm38)	E1430V	probably benign	Het
Mga	A	G	2: 119,964,793 (GRCm38)	K2986R	probably damaging	Het
Myo9b	G	T	8: 71,327,940 (GRCm38)	V494L	probably damaging	Het
Nbea	G	A	3: 56,085,306 (GRCm38)	T293I	probably damaging	Het
Neto2	C	T	8: 85,669,767 (GRCm38)	R83Q	probably damaging	Het
Ocm	A	T	5: 144,024,570 (GRCm38)		probably null	Het
Olfr619	C	T	7: 103,604,034 (GRCm38)	R127C	probably benign	Het
Pcdha11	T	C	18: 37,007,424 (GRCm38)	I702T	possibly damaging	Het
Rbbp8nl	A	T	2: 180,280,971 (GRCm38)	S210T	probably damaging	Het
Rbl2	A	T	8: 91,087,146 (GRCm38)	I340F	probably benign	Het
Rft1	T	C	14: 30,666,767 (GRCm38)	L216P	possibly damaging	Het
Slc26a10	T	A	10: 127,179,737 (GRCm38)		probably null	Het
Slc34a1	G	A	13: 55,409,052 (GRCm38)	A235T	possibly damaging	Het
Spag17	A	G	3: 100,103,456 (GRCm38)	T2089A	probably benign	Het
Srek1	G	C	13: 103,753,028 (GRCm38)	S260*	probably null	Het
Sspo	T	C	6: 48,454,055 (GRCm38)	V624A	probably benign	Het
Tapt1	T	C	5: 44,192,453 (GRCm38)	I251V	probably benign	Het
Tmem248	T	C	5: 130,229,562 (GRCm38)	I32T	probably damaging	Het
Tnk1	T	G	11: 69,855,761 (GRCm38)	T209P	probably damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,814,790 (GRCm38)		probably null	Het
Trp53tg5	T	A	2: 164,471,330 (GRCm38)	R142*	probably null	Het
Upf1	C	T	8: 70,338,460 (GRCm38)	R544H	probably damaging	Het
Vldlr	C	T	19: 27,236,288 (GRCm38)	T125I	possibly damaging	Het
Vps8	A	G	16: 21,559,337 (GRCm38)	T1033A	probably benign	Het
Wiz	A	C	17: 32,361,885 (GRCm38)	H197Q	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTAAGCATTCCACATGGTG -3'
(R):5'- GTGTGTGATATTAGCACTGAAATGC -3'

Sequencing Primer
(F):5'- AACCAGCATCTTGGCTTGG -3'
(R):5'- GCAGGTATAAAAGAAGTTTGCTCTG -3'

Posted On

2014-11-12