Mutagenetix > Incidental Mutation

Incidental Mutation 'R1345:Plxna2'

156448

Institutional Source

Beutler Lab

Gene Symbol

Plxna2

Ensembl Gene

ENSMUSG00000026640

Gene Name

plexin A2

Synonyms

PlexA2, 2810428A13Rik, Plxn2, OCT

MMRRC Submission

039410-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

194302020-194499177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 194326794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 243 (Y243H)

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: Y243H

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

SMART Domains

Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: Y243H

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: ENSMUST00000125381

Meta Mutation Damage Score

0.8482

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 92.3%

Validation Efficiency

100% (45/45)

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
1700001K19Rik	C	T	12: 110,635,152 (GRCm39)	V129I	probably damaging	Het
Akr1c18	T	C	13: 4,195,213 (GRCm39)	T82A	possibly damaging	Het
Alx1	A	G	10: 102,864,353 (GRCm39)	S39P	possibly damaging	Het
Atr	A	G	9: 95,802,408 (GRCm39)	T1767A	probably benign	Het
Brf1	A	T	12: 112,924,728 (GRCm39)		probably null	Het
Cd86	A	G	16: 36,438,686 (GRCm39)		probably null	Het
Cdan1	A	G	2: 120,549,620 (GRCm39)		probably null	Het
Cntln	A	G	4: 84,892,228 (GRCm39)	D371G	probably damaging	Het
Cypt4	A	G	9: 24,536,515 (GRCm39)	T2A	possibly damaging	Het
Dll1	G	T	17: 15,593,817 (GRCm39)	Y183*	probably null	Het
Dnmt1	G	T	9: 20,819,814 (GRCm39)	P1444Q	probably damaging	Het
Ern2	A	G	7: 121,776,993 (GRCm39)	L309P	probably damaging	Het
Fam151a	A	G	4: 106,599,491 (GRCm39)	K142E	probably damaging	Het
Fbn1	T	C	2: 125,156,591 (GRCm39)	E2378G	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kdm5b	A	C	1: 134,558,288 (GRCm39)	T1432P	possibly damaging	Het
Kif2a	G	A	13: 107,130,423 (GRCm39)	S15F	probably damaging	Het
Lzic	A	G	4: 149,571,308 (GRCm39)	E31G	probably damaging	Het
Mmp16	A	G	4: 18,112,021 (GRCm39)	M466V	probably benign	Het
Mtm1	T	C	X: 70,330,837 (GRCm39)	V203A	probably benign	Het
Muc21	T	A	17: 35,932,489 (GRCm39)		probably benign	Het
Neurl4	A	G	11: 69,794,702 (GRCm39)	M249V	probably benign	Het
Or6c76b	T	C	10: 129,692,759 (GRCm39)	I124T	probably damaging	Het
Rbm44	A	G	1: 91,080,481 (GRCm39)	N223S	probably damaging	Het
Sel1l3	G	T	5: 53,357,559 (GRCm39)	H144Q	possibly damaging	Het
Simc1	A	ANNNNNNNNNNNNNNNNNNNNN	13: 54,673,060 (GRCm39)		probably benign	Het
Snrpb2	A	G	2: 142,907,086 (GRCm39)		probably benign	Het
Spata31d1d	T	G	13: 59,873,838 (GRCm39)	K1232N	possibly damaging	Het
Spink5	A	T	18: 44,123,749 (GRCm39)	E345D	possibly damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tarbp1	T	C	8: 127,175,069 (GRCm39)	D789G	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmem232	T	C	17: 65,757,401 (GRCm39)	N264S	possibly damaging	Het
Trim43b	G	C	9: 88,967,725 (GRCm39)	L303V	possibly damaging	Het
Tulp2	C	A	7: 45,168,145 (GRCm39)	R298S	probably benign	Het
Usp42	A	G	5: 143,703,088 (GRCm39)	V511A	probably damaging	Het
Vav1	A	T	17: 57,608,214 (GRCm39)	T321S	probably benign	Het
Vmn1r169	A	C	7: 23,277,247 (GRCm39)	H213P	probably damaging	Het
Vmn1r170	C	T	7: 23,305,787 (GRCm39)	T63I	probably benign	Het
Vmn2r103	T	G	17: 20,014,509 (GRCm39)	W434G	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp7	T	C	15: 76,774,908 (GRCm39)	S317P	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGATGGCAAGCAGGATTACTTCCC -3'
(R):5'- TGGCAAACAGGACATCTTCGTCGC -3'

Sequencing Primer
(F):5'- AAGCAGGATTACTTCCCTACTC -3'
(R):5'- TGCAGAAGGCGATATTCCAC -3'

Posted On

2014-02-11