Mutagenetix > Incidental Mutation

Incidental Mutation 'R6668:Plxna2'

527050

Institutional Source

Beutler Lab

Gene Symbol

Plxna2

Ensembl Gene

ENSMUSG00000026640

Gene Name

plexin A2

Synonyms

PlexA2, 2810428A13Rik, Plxn2, OCT

MMRRC Submission

044788-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6668 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

194302020-194499177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 194492396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1751 (V1751A)

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

possibly damaging
Transcript: ENSMUST00000027952
AA Change: V1751A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: V1751A

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

Meta Mutation Damage Score

0.8298

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (42/42)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	G	T	11: 116,486,868 (GRCm39)		probably benign	Het
Adam26b	A	T	8: 43,973,727 (GRCm39)	V425D	possibly damaging	Het
Ahctf1	A	G	1: 179,579,972 (GRCm39)	S2077P	probably benign	Het
Amacr	A	G	15: 10,983,468 (GRCm39)	T93A	probably benign	Het
Arsb	T	A	13: 93,930,728 (GRCm39)		probably null	Het
Bcas3	G	A	11: 85,692,677 (GRCm39)	R354Q	probably damaging	Het
Chia1	C	T	3: 106,038,264 (GRCm39)	L387F	probably damaging	Het
Cyp24a1	A	T	2: 170,327,805 (GRCm39)		probably null	Het
Dennd4a	G	A	9: 64,794,247 (GRCm39)	G689S	probably damaging	Het
Elovl4	G	A	9: 83,688,039 (GRCm39)	A18V	probably benign	Het
Fam135a	A	T	1: 24,067,929 (GRCm39)	V80E	probably damaging	Het
Fmo2	T	A	1: 162,704,617 (GRCm39)	T430S	probably benign	Het
Fpgs	T	C	2: 32,577,618 (GRCm39)	I213V	probably benign	Het
Gm10134	A	T	2: 28,396,263 (GRCm39)	R53*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Ift172	T	C	5: 31,412,683 (GRCm39)	N1524S	probably benign	Het
Kif1b	G	A	4: 149,297,864 (GRCm39)	S1104F	probably benign	Het
Map3k21	T	C	8: 126,652,852 (GRCm39)	V326A	possibly damaging	Het
Mlst8	A	G	17: 24,696,453 (GRCm39)		probably null	Het
Muc16	A	T	9: 18,551,681 (GRCm39)	S4871T	probably benign	Het
Myo1d	A	G	11: 80,474,701 (GRCm39)		probably benign	Het
Ndufa3	A	G	7: 3,622,465 (GRCm39)	Y41C	probably damaging	Het
Nfkbid	T	A	7: 30,123,866 (GRCm39)	L142Q	probably benign	Het
Or8b38	T	A	9: 37,973,066 (GRCm39)	M150K	possibly damaging	Het
Peg10	T	A	6: 4,754,502 (GRCm39)	D94E	probably benign	Het
Phactr3	A	T	2: 177,974,657 (GRCm39)	I492F	probably damaging	Het
Prss16	T	C	13: 22,190,918 (GRCm39)	E238G	probably null	Het
Rad51ap2	T	C	12: 11,507,647 (GRCm39)	V523A	probably benign	Het
Rbm33	T	A	5: 28,547,498 (GRCm39)	S223T	probably benign	Het
Ryk	T	A	9: 102,746,475 (GRCm39)	F137I	possibly damaging	Het
Sars2	G	A	7: 28,446,429 (GRCm39)	E194K	probably benign	Het
Spata2l	T	C	8: 123,960,167 (GRCm39)	D374G	probably damaging	Het
Tenm2	A	G	11: 35,937,592 (GRCm39)		probably null	Het
Ubr4	A	G	4: 139,192,652 (GRCm39)	K1097E	probably damaging	Het
Ulk4	A	T	9: 121,017,408 (GRCm39)	V690E	probably damaging	Het
Usp34	A	G	11: 23,410,659 (GRCm39)	N2703S	probably damaging	Het
Zfp273	C	G	13: 67,973,243 (GRCm39)	L124V	probably damaging	Het
Zfp608	A	G	18: 55,031,091 (GRCm39)	S950P	probably damaging	Het
Zfp994	A	T	17: 22,420,081 (GRCm39)	H289Q	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
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
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'- AGCTCCTGTTGGACCAGTTTC -3'
(R):5'- ATGAGGTCCTGCTCTTCAGTGG -3'

Sequencing Primer
(F):5'- GTTGGACCAGTTTCTGAATTCATTC -3'
(R):5'- AGGGAATTACTGACCTTTCTACCCAG -3'

Posted On

2018-07-23