Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02511:Plxna3'

296552

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxna3

Ensembl Gene

ENSMUSG00000031398

Gene Name

plexin A3

Synonyms

PlexA3, Plxa3, Plxn4, Plxn3, SEX

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

IGL02511

Quality Score

Status

Chromosome

Chromosomal Location

73372672-73388295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73378991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 712 (Q712K)

Ref Sequence

ENSEMBL: ENSMUSP00000004326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004326]

AlphaFold

P70208

PDB Structure

Crystal strucure of mouse Plexin A3 intracellular domain [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000004326
AA Change: Q712K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004326
Gene: ENSMUSG00000031398
AA Change: Q712K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Sema	34	473	1.81e-129	SMART
PSI	491	541	2.26e-11	SMART
PSI	638	685	3.62e-10	SMART
PSI	786	839	4.03e-8	SMART
IPT	840	934	8.07e-23	SMART
IPT	935	1021	2.99e-17	SMART
IPT	1023	1123	4.19e-21	SMART
IPT	1125	1220	1.49e-3	SMART
transmembrane domain	1221	1243	N/A	INTRINSIC
Pfam:Plexin_cytopl	1294	1842	2.8e-253	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154062

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 class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a similar gene in zebrafish suggest that it is important for axon pathfinding in the developing nervous system. This gene may be associated with tumor progression. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene possess misdirected axons in the hippocampus. They are, otherwise, indistinguishable from wild-type mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,692,111 (GRCm39)		probably benign	Het
Adam3	T	A	8: 25,185,192 (GRCm39)	D502V	probably damaging	Het
Adss2	T	C	1: 177,598,700 (GRCm39)		probably benign	Het
Ankrd36	T	A	11: 5,610,845 (GRCm39)		probably null	Het
Atf6b	T	C	17: 34,873,615 (GRCm39)	S692P	probably benign	Het
Cap2	T	C	13: 46,684,498 (GRCm39)	M1T	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntn1	A	T	15: 92,114,266 (GRCm39)		probably benign	Het
Copg2	A	T	6: 30,835,757 (GRCm39)	F218Y	probably benign	Het
Dll4	G	A	2: 119,156,947 (GRCm39)	G73E	probably damaging	Het
Dzip3	T	C	16: 48,757,343 (GRCm39)	M897V	possibly damaging	Het
Ehbp1	T	C	11: 22,039,653 (GRCm39)	R816G	probably damaging	Het
Enoph1	T	C	5: 100,208,894 (GRCm39)	L83P	probably benign	Het
Enpep	A	G	3: 129,115,059 (GRCm39)	S238P	probably damaging	Het
Fermt1	A	C	2: 132,775,086 (GRCm39)		probably benign	Het
Gm6619	T	A	6: 131,467,330 (GRCm39)	I65K	possibly damaging	Het
Krtap31-2	T	A	11: 99,827,518 (GRCm39)	C117S	possibly damaging	Het
Ksr1	T	C	11: 78,936,046 (GRCm39)	D106G	possibly damaging	Het
Lgr4	A	T	2: 109,841,617 (GRCm39)	Y534F	probably benign	Het
Mamdc2	T	C	19: 23,356,095 (GRCm39)	T118A	probably benign	Het
Myo10	T	A	15: 25,723,975 (GRCm39)	I170N	probably damaging	Het
Myom2	T	C	8: 15,115,743 (GRCm39)	S53P	probably benign	Het
Npl	T	A	1: 153,391,227 (GRCm39)	D176V	probably damaging	Het
Nrm	T	C	17: 36,172,316 (GRCm39)	S14P	probably damaging	Het
Or5al7	A	G	2: 85,992,363 (GRCm39)	I310T	probably benign	Het
Or5p70	T	A	7: 107,995,265 (GRCm39)	F313I	probably benign	Het
Or5v1b	A	G	17: 37,840,870 (GRCm39)	M1V	probably null	Het
Papola	T	A	12: 105,775,604 (GRCm39)	C204S	probably damaging	Het
Pard3	A	T	8: 127,888,070 (GRCm39)		probably benign	Het
Pdzd4	T	A	X: 72,838,206 (GRCm39)	M701L	probably damaging	Het
Pkhd1	A	T	1: 20,143,731 (GRCm39)	V3865E	possibly damaging	Het
Pon1	A	G	6: 5,193,724 (GRCm39)	L9P	probably damaging	Het
Pygm	A	T	19: 6,435,718 (GRCm39)	I83F	probably benign	Het
Scyl2	A	G	10: 89,476,681 (GRCm39)	S815P	probably benign	Het
Serpina1a	C	T	12: 103,822,226 (GRCm39)	W212*	probably null	Het
Slc38a9	C	A	13: 112,834,541 (GRCm39)	D239E	possibly damaging	Het
Smad6	A	G	9: 63,860,859 (GRCm39)	F479L	probably damaging	Het
Smarcc2	T	C	10: 128,297,251 (GRCm39)	S48P	probably damaging	Het
Ttn	T	A	2: 76,768,034 (GRCm39)	M3022L	unknown	Het
Tulp1	C	A	17: 28,575,142 (GRCm39)	R441L	probably benign	Het
Ugt1a10	T	C	1: 87,983,585 (GRCm39)	F128L	probably damaging	Het
Ulk4	A	G	9: 121,017,420 (GRCm39)	V686A	probably damaging	Het
Ush2a	T	C	1: 188,475,884 (GRCm39)		probably null	Het
Ushbp1	T	C	8: 71,843,581 (GRCm39)	M286V	probably null	Het
Usp51	T	G	X: 151,791,726 (GRCm39)	I440R	probably damaging	Het
Wee1	G	T	7: 109,738,483 (GRCm39)	R532L	possibly damaging	Het
Zfhx4	A	G	3: 5,464,243 (GRCm39)	E1467G	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp551	A	G	7: 12,150,602 (GRCm39)	V269A	possibly damaging	Het

Other mutations in Plxna3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Plxna3	APN	X	73,379,400 (GRCm39)	missense	probably damaging	1.00
IGL01509:Plxna3	APN	X	73,376,039 (GRCm39)	missense	probably benign	0.00
IGL01511:Plxna3	APN	X	73,378,914 (GRCm39)	missense	probably damaging	0.98
IGL01694:Plxna3	APN	X	73,382,114 (GRCm39)	missense	probably damaging	1.00
R1544:Plxna3	UTSW	X	73,383,772 (GRCm39)	splice site	probably null
R2872:Plxna3	UTSW	X	73,383,002 (GRCm39)	splice site	probably benign
R2874:Plxna3	UTSW	X	73,383,002 (GRCm39)	splice site	probably benign
R4672:Plxna3	UTSW	X	73,382,554 (GRCm39)	critical splice donor site	probably null
R4673:Plxna3	UTSW	X	73,382,554 (GRCm39)	critical splice donor site	probably null
Z1176:Plxna3	UTSW	X	73,379,626 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16