Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01994:Plxnc1'

183623

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxnc1

Ensembl Gene

ENSMUSG00000074785

Gene Name

plexin C1

Synonyms

CD232, vespr, 2510048K12Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

IGL01994

Quality Score

Status

Chromosome

Chromosomal Location

94790866-94944835 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94849939 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 730 (K730R)

Ref Sequence

ENSEMBL: ENSMUSP00000096939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099337]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099337
AA Change: K730R

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

SMART Domains

Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: K730R

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:Sema	87	431	5.5e-10	PFAM
PSI	454	507	5.28e-12	SMART
PSI	590	634	1.07e-3	SMART
Pfam:TIG	665	752	3.7e-9	PFAM
IPT	755	847	5.14e-7	SMART
IPT	849	954	1.8e-2	SMART
low complexity region	978	997	N/A	INTRINSIC
Pfam:Plexin_cytopl	1018	1541	1.4e-199	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181244

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 family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuron morphology and migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	T	13: 12,290,677	Y418N	probably benign	Het
Adam15	T	C	3: 89,341,505		probably benign	Het
Adam32	C	A	8: 24,902,796		probably benign	Het
Adamts12	T	A	15: 11,345,594	C1574S	probably damaging	Het
Adck1	T	C	12: 88,431,156	S187P	possibly damaging	Het
Atp13a3	A	G	16: 30,337,518	V949A	possibly damaging	Het
Atxn3	T	C	12: 101,942,180	T138A	probably benign	Het
Atxn7l2	C	T	3: 108,203,543	R559Q	probably damaging	Het
Bicra	G	T	7: 15,972,816	S1233R	possibly damaging	Het
Cacybp	G	T	1: 160,206,636	N101K	probably damaging	Het
Cops7b	T	C	1: 86,601,106	L185P	probably damaging	Het
Cttnbp2	T	C	6: 18,420,815	D899G	possibly damaging	Het
Cyp4f37	C	T	17: 32,625,176	R85*	probably null	Het
Dnah3	T	G	7: 119,951,214	N3294T	possibly damaging	Het
Elmo1	T	A	13: 20,342,464	Y395N	probably damaging	Het
Fam234b	T	A	6: 135,225,205	Y308*	probably null	Het
Fam43a	A	G	16: 30,600,663	K22E	probably damaging	Het
Fcer2a	T	C	8: 3,688,302	N123D	possibly damaging	Het
Gm11595	A	G	11: 99,772,201	C218R	unknown	Het
Gria4	T	C	9: 4,537,726	Y194C	probably damaging	Het
Grin2d	T	C	7: 45,857,972	E435G	probably damaging	Het
Hectd1	T	C	12: 51,797,942	E506G	probably damaging	Het
Htt	G	A	5: 34,832,604	S1160N	possibly damaging	Het
Ift140	A	G	17: 25,048,443	E605G	probably damaging	Het
Il17re	T	C	6: 113,468,450	V374A	probably benign	Het
Ippk	A	G	13: 49,458,617	Q439R	possibly damaging	Het
Itgam	G	A	7: 128,101,727	V530M	probably damaging	Het
Kirrel3	A	G	9: 35,020,133	H47R	possibly damaging	Het
Klk1b24	A	T	7: 44,191,633	I162F	probably damaging	Het
Lama1	A	T	17: 67,752,439	T606S	probably benign	Het
Lama2	C	T	10: 27,467,203		probably null	Het
Lrp2	A	G	2: 69,483,601	I2262T	probably benign	Het
Mamdc4	A	T	2: 25,568,534	I317N	possibly damaging	Het
Mtmr3	G	T	11: 4,487,938	H839N	probably benign	Het
Ncr1	G	T	7: 4,341,254	V177F	probably benign	Het
Nop58	T	C	1: 59,704,083	S219P	probably damaging	Het
Nrg3	T	C	14: 39,012,086	Y281C	probably damaging	Het
Nsf	A	G	11: 103,928,782	S54P	probably damaging	Het
Olfr421-ps1	T	A	1: 174,151,536	S7T	probably benign	Het
Olfr687	A	T	7: 105,275,946		noncoding transcript	Het
Polr2g	A	T	19: 8,794,376		probably benign	Het
Rps13	A	G	7: 116,333,690		probably benign	Het
Scgb2b7	A	G	7: 31,703,984	I99T	probably benign	Het
Slc22a27	G	T	19: 7,909,743	H260Q	possibly damaging	Het
Spata18	G	T	5: 73,657,601		probably null	Het
Tns2	A	G	15: 102,111,379	E560G	possibly damaging	Het
Trbv16	T	C	6: 41,151,781		probably benign	Het
Ubr3	T	A	2: 70,021,176	I1829N	probably damaging	Het
Vcl	C	T	14: 21,003,243	T442I	probably damaging	Het
Vmn2r102	T	A	17: 19,660,469	I24N	probably benign	Het
Vmn2r114	T	C	17: 23,310,477	D217G	probably damaging	Het
Vmn2r58	A	G	7: 41,836,970	Y834H	probably damaging	Het
Zdhhc8	G	T	16: 18,227,772		probably benign	Het

Other mutations in Plxnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Plxnc1	APN	10	94847549	missense	probably benign	0.25
IGL01285:Plxnc1	APN	10	94799368	missense	probably damaging	0.99
IGL01867:Plxnc1	APN	10	94798146	missense	possibly damaging	0.61
IGL02083:Plxnc1	APN	10	94922725	missense	possibly damaging	0.61
IGL02250:Plxnc1	APN	10	94871031	missense	probably benign	0.00
IGL02429:Plxnc1	APN	10	94882591	missense	probably benign	0.00
IGL02752:Plxnc1	APN	10	94794680	unclassified	probably null
IGL02973:Plxnc1	APN	10	94810684	missense	probably damaging	1.00
R0230:Plxnc1	UTSW	10	94799347	missense	probably benign	0.07
R0265:Plxnc1	UTSW	10	94813129	missense	probably benign	0.14
R0271:Plxnc1	UTSW	10	94837918	missense	probably null	1.00
R0299:Plxnc1	UTSW	10	94849821	critical splice donor site	probably null
R0361:Plxnc1	UTSW	10	94865007	missense	probably damaging	1.00
R0441:Plxnc1	UTSW	10	94796482	missense	probably damaging	1.00
R0558:Plxnc1	UTSW	10	94837935	missense	probably damaging	1.00
R0617:Plxnc1	UTSW	10	94799368	missense	probably damaging	1.00
R0671:Plxnc1	UTSW	10	94799332	missense	possibly damaging	0.63
R0692:Plxnc1	UTSW	10	94837500	critical splice donor site	probably null
R0751:Plxnc1	UTSW	10	94831333	splice site	probably benign
R1184:Plxnc1	UTSW	10	94831333	splice site	probably benign
R1260:Plxnc1	UTSW	10	94831365	missense	probably damaging	0.99
R1680:Plxnc1	UTSW	10	94841551	missense	probably benign	0.14
R1746:Plxnc1	UTSW	10	94844179	splice site	probably null
R1750:Plxnc1	UTSW	10	94799497	missense	probably damaging	1.00
R1751:Plxnc1	UTSW	10	94849815	unclassified	probably benign
R1768:Plxnc1	UTSW	10	94844322	missense	probably benign	0.05
R1876:Plxnc1	UTSW	10	94866941	missense	possibly damaging	0.94
R2004:Plxnc1	UTSW	10	94852622	missense	probably damaging	0.98
R2031:Plxnc1	UTSW	10	94943667	missense	probably benign	0.26
R2184:Plxnc1	UTSW	10	94944269	missense	probably damaging	1.00
R2437:Plxnc1	UTSW	10	94906533	missense	probably benign	0.02
R2927:Plxnc1	UTSW	10	94793292	critical splice acceptor site	probably null
R3001:Plxnc1	UTSW	10	94793218	missense	probably damaging	0.98
R3002:Plxnc1	UTSW	10	94793218	missense	probably damaging	0.98
R3003:Plxnc1	UTSW	10	94793218	missense	probably damaging	0.98
R3441:Plxnc1	UTSW	10	94871010	missense	probably benign	0.00
R3849:Plxnc1	UTSW	10	94794432	missense	probably benign	0.01
R3884:Plxnc1	UTSW	10	94910687	intron	probably null
R4004:Plxnc1	UTSW	10	94794597	nonsense	probably null
R4679:Plxnc1	UTSW	10	94794444	missense	probably damaging	1.00
R4730:Plxnc1	UTSW	10	94867468	intron	probably benign
R4937:Plxnc1	UTSW	10	94841473	missense	probably damaging	1.00
R5068:Plxnc1	UTSW	10	94799377	missense	possibly damaging	0.91
R5345:Plxnc1	UTSW	10	94849969	missense	probably benign	0.26
R5397:Plxnc1	UTSW	10	94843752	missense	probably benign	0.08
R5416:Plxnc1	UTSW	10	94837554	missense	probably damaging	1.00
R5485:Plxnc1	UTSW	10	94922742	missense	probably benign	0.00
R5543:Plxnc1	UTSW	10	94864774	missense	probably benign
R5826:Plxnc1	UTSW	10	94799473	critical splice donor site	probably null
R6007:Plxnc1	UTSW	10	94793290	missense	possibly damaging	0.88
R6018:Plxnc1	UTSW	10	94943848	missense	probably benign	0.21
R6052:Plxnc1	UTSW	10	94943773	missense	probably benign	0.13
R6291:Plxnc1	UTSW	10	94833642	splice site	probably null
R6653:Plxnc1	UTSW	10	94943876	missense	probably damaging	1.00
R6984:Plxnc1	UTSW	10	94831530	missense	probably damaging	1.00
R7086:Plxnc1	UTSW	10	94831435	missense	probably benign
R7401:Plxnc1	UTSW	10	94871005	missense	probably benign
R7727:Plxnc1	UTSW	10	94944109	missense	probably damaging	1.00
R7789:Plxnc1	UTSW	10	94794477	missense	probably damaging	1.00
R7803:Plxnc1	UTSW	10	94943515	critical splice donor site	probably null
R7809:Plxnc1	UTSW	10	94794440	missense	probably damaging	1.00
R7882:Plxnc1	UTSW	10	94843836	missense	probably benign
R7965:Plxnc1	UTSW	10	94843836	missense	probably benign
RF003:Plxnc1	UTSW	10	94794444	missense	probably damaging	1.00
RF045:Plxnc1	UTSW	10	94865007	missense	probably damaging	1.00
RF046:Plxnc1	UTSW	10	94865007	missense	probably damaging	1.00
RF047:Plxnc1	UTSW	10	94865007	missense	probably damaging	1.00
X0024:Plxnc1	UTSW	10	94864715	critical splice donor site	probably null
Z1176:Plxnc1	UTSW	10	94865029	missense	probably benign	0.16

Posted On

2014-05-07