Mutagenetix > Incidental Mutation

Incidental Mutation 'R5826:Plxnc1'

450180

Institutional Source

Beutler Lab

Gene Symbol

Plxnc1

Ensembl Gene

ENSMUSG00000074785

Gene Name

plexin C1

Synonyms

2510048K12Rik, vespr, CD232

MMRRC Submission

043217-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.472) question?

Stock #

R5826 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94626728-94780697 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 94635335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096939 (fasta)

Gene Model

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

AlphaFold

Q9QZC2

Predicted Effect

probably null
Transcript: ENSMUST00000099337

SMART Domains

Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,632,056 (GRCm39)	H4992R	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Akr1c20	T	C	13: 4,560,222 (GRCm39)	E152G	probably damaging	Het
Ano4	T	A	10: 88,788,189 (GRCm39)	D877V	probably damaging	Het
Asb18	A	C	1: 89,942,260 (GRCm39)	S14A	probably damaging	Het
Atrnl1	T	A	19: 57,618,724 (GRCm39)	Y147*	probably null	Het
Cbfa2t2	A	G	2: 154,342,375 (GRCm39)	I30M	possibly damaging	Het
Cpd	A	T	11: 76,675,242 (GRCm39)	L1293*	probably null	Het
Csmd2	T	C	4: 128,412,992 (GRCm39)		probably null	Het
Cst9	G	A	2: 148,680,393 (GRCm39)	V120I	possibly damaging	Het
Ddah2	A	G	17: 35,279,664 (GRCm39)	D128G	probably damaging	Het
Defb11	T	C	8: 22,395,510 (GRCm39)	I56V	probably benign	Het
Dnah17	A	T	11: 117,925,193 (GRCm39)	L3880Q	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dop1a	A	G	9: 86,389,623 (GRCm39)	T508A	possibly damaging	Het
Ephb2	T	A	4: 136,388,048 (GRCm39)	H685L	probably damaging	Het
Glrb	T	C	3: 80,752,449 (GRCm39)	Y387C	probably damaging	Het
Gucy2e	A	G	11: 69,126,859 (GRCm39)	S205P	possibly damaging	Het
Has2	T	A	15: 56,531,498 (GRCm39)	I406F	probably damaging	Het
Hcrtr2	A	C	9: 76,230,569 (GRCm39)	V73G	probably benign	Het
Hsd17b4	A	T	18: 50,316,239 (GRCm39)	Q622L	probably benign	Het
Nlrp1b	A	T	11: 71,072,022 (GRCm39)	M607K	probably benign	Het
Nol6	T	A	4: 41,122,158 (GRCm39)	D184V	probably benign	Het
Noxa1	T	A	2: 24,976,253 (GRCm39)	Q345L	probably damaging	Het
Nudt6	T	C	3: 37,473,617 (GRCm39)	T35A	probably benign	Het
Phf8-ps	C	A	17: 33,284,288 (GRCm39)	R838I	possibly damaging	Het
Plcg2	T	C	8: 118,337,583 (GRCm39)	V985A	probably benign	Het
Prkdc	G	A	16: 15,551,962 (GRCm39)	R2056H	probably benign	Het
Ptpn4	A	T	1: 119,612,246 (GRCm39)	I49N	probably benign	Het
Ralgapa1	T	G	12: 55,723,898 (GRCm39)	S1543R	probably damaging	Het
Rnf135	A	T	11: 80,089,912 (GRCm39)	N416I	probably damaging	Het
Scn5a	A	G	9: 119,350,399 (GRCm39)	L825P	probably damaging	Het
Septin11	A	T	5: 93,287,309 (GRCm39)	N8I	possibly damaging	Het
Slc13a3	T	C	2: 165,250,876 (GRCm39)	I456V	probably benign	Het
Slc16a3	A	G	11: 120,847,756 (GRCm39)	T315A	probably benign	Het
Sun1	T	G	5: 139,231,171 (GRCm39)	F657C	probably damaging	Het
Tmco3	T	C	8: 13,360,314 (GRCm39)	S34P	probably damaging	Het
Tnrc18	G	A	5: 142,759,502 (GRCm39)	P778L	unknown	Het
Ubxn4	A	C	1: 128,194,058 (GRCm39)	K284T	possibly damaging	Het
Usp37	A	T	1: 74,509,785 (GRCm39)	N461K	probably damaging	Het
Vmn2r106	A	T	17: 20,499,133 (GRCm39)	F259L	probably benign	Het
Vmn2r73	T	C	7: 85,524,956 (GRCm39)	D64G	possibly damaging	Het

Other mutations in Plxnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Plxnc1	APN	10	94,683,411 (GRCm39)	missense	probably benign	0.25
IGL01285:Plxnc1	APN	10	94,635,230 (GRCm39)	missense	probably damaging	0.99
IGL01867:Plxnc1	APN	10	94,634,008 (GRCm39)	missense	possibly damaging	0.61
IGL01994:Plxnc1	APN	10	94,685,801 (GRCm39)	missense	probably damaging	1.00
IGL02083:Plxnc1	APN	10	94,758,587 (GRCm39)	missense	possibly damaging	0.61
IGL02250:Plxnc1	APN	10	94,706,893 (GRCm39)	missense	probably benign	0.00
IGL02429:Plxnc1	APN	10	94,718,453 (GRCm39)	missense	probably benign	0.00
IGL02752:Plxnc1	APN	10	94,630,542 (GRCm39)	splice site	probably null
IGL02973:Plxnc1	APN	10	94,646,546 (GRCm39)	missense	probably damaging	1.00
R0230:Plxnc1	UTSW	10	94,635,209 (GRCm39)	missense	probably benign	0.07
R0265:Plxnc1	UTSW	10	94,648,991 (GRCm39)	missense	probably benign	0.14
R0271:Plxnc1	UTSW	10	94,673,780 (GRCm39)	missense	probably null	1.00
R0299:Plxnc1	UTSW	10	94,685,683 (GRCm39)	critical splice donor site	probably null
R0361:Plxnc1	UTSW	10	94,700,869 (GRCm39)	missense	probably damaging	1.00
R0441:Plxnc1	UTSW	10	94,632,344 (GRCm39)	missense	probably damaging	1.00
R0558:Plxnc1	UTSW	10	94,673,797 (GRCm39)	missense	probably damaging	1.00
R0617:Plxnc1	UTSW	10	94,635,230 (GRCm39)	missense	probably damaging	1.00
R0671:Plxnc1	UTSW	10	94,635,194 (GRCm39)	missense	possibly damaging	0.63
R0692:Plxnc1	UTSW	10	94,673,362 (GRCm39)	critical splice donor site	probably null
R0751:Plxnc1	UTSW	10	94,667,195 (GRCm39)	splice site	probably benign
R1184:Plxnc1	UTSW	10	94,667,195 (GRCm39)	splice site	probably benign
R1260:Plxnc1	UTSW	10	94,667,227 (GRCm39)	missense	probably damaging	0.99
R1680:Plxnc1	UTSW	10	94,677,413 (GRCm39)	missense	probably benign	0.14
R1746:Plxnc1	UTSW	10	94,680,041 (GRCm39)	splice site	probably null
R1750:Plxnc1	UTSW	10	94,635,359 (GRCm39)	missense	probably damaging	1.00
R1751:Plxnc1	UTSW	10	94,685,677 (GRCm39)	unclassified	probably benign
R1768:Plxnc1	UTSW	10	94,680,184 (GRCm39)	missense	probably benign	0.05
R1876:Plxnc1	UTSW	10	94,702,803 (GRCm39)	missense	possibly damaging	0.94
R2004:Plxnc1	UTSW	10	94,688,484 (GRCm39)	missense	probably damaging	0.98
R2031:Plxnc1	UTSW	10	94,779,529 (GRCm39)	missense	probably benign	0.26
R2184:Plxnc1	UTSW	10	94,780,131 (GRCm39)	missense	probably damaging	1.00
R2437:Plxnc1	UTSW	10	94,742,395 (GRCm39)	missense	probably benign	0.02
R2927:Plxnc1	UTSW	10	94,629,154 (GRCm39)	critical splice acceptor site	probably null
R3001:Plxnc1	UTSW	10	94,629,080 (GRCm39)	missense	probably damaging	0.98
R3002:Plxnc1	UTSW	10	94,629,080 (GRCm39)	missense	probably damaging	0.98
R3003:Plxnc1	UTSW	10	94,629,080 (GRCm39)	missense	probably damaging	0.98
R3441:Plxnc1	UTSW	10	94,706,872 (GRCm39)	missense	probably benign	0.00
R3849:Plxnc1	UTSW	10	94,630,294 (GRCm39)	missense	probably benign	0.01
R3884:Plxnc1	UTSW	10	94,746,549 (GRCm39)	splice site	probably null
R4004:Plxnc1	UTSW	10	94,630,459 (GRCm39)	nonsense	probably null
R4679:Plxnc1	UTSW	10	94,630,306 (GRCm39)	missense	probably damaging	1.00
R4730:Plxnc1	UTSW	10	94,703,330 (GRCm39)	intron	probably benign
R4937:Plxnc1	UTSW	10	94,677,335 (GRCm39)	missense	probably damaging	1.00
R5068:Plxnc1	UTSW	10	94,635,239 (GRCm39)	missense	possibly damaging	0.91
R5345:Plxnc1	UTSW	10	94,685,831 (GRCm39)	missense	probably benign	0.26
R5397:Plxnc1	UTSW	10	94,679,614 (GRCm39)	missense	probably benign	0.08
R5416:Plxnc1	UTSW	10	94,673,416 (GRCm39)	missense	probably damaging	1.00
R5485:Plxnc1	UTSW	10	94,758,604 (GRCm39)	missense	probably benign	0.00
R5543:Plxnc1	UTSW	10	94,700,636 (GRCm39)	missense	probably benign
R6007:Plxnc1	UTSW	10	94,629,152 (GRCm39)	missense	possibly damaging	0.88
R6018:Plxnc1	UTSW	10	94,779,710 (GRCm39)	missense	probably benign	0.21
R6052:Plxnc1	UTSW	10	94,779,635 (GRCm39)	missense	probably benign	0.13
R6291:Plxnc1	UTSW	10	94,669,504 (GRCm39)	splice site	probably null
R6653:Plxnc1	UTSW	10	94,779,738 (GRCm39)	missense	probably damaging	1.00
R6984:Plxnc1	UTSW	10	94,667,392 (GRCm39)	missense	probably damaging	1.00
R7086:Plxnc1	UTSW	10	94,667,297 (GRCm39)	missense	probably benign
R7401:Plxnc1	UTSW	10	94,706,867 (GRCm39)	missense	probably benign
R7727:Plxnc1	UTSW	10	94,779,971 (GRCm39)	missense	probably damaging	1.00
R7789:Plxnc1	UTSW	10	94,630,339 (GRCm39)	missense	probably damaging	1.00
R7803:Plxnc1	UTSW	10	94,779,377 (GRCm39)	critical splice donor site	probably null
R7809:Plxnc1	UTSW	10	94,630,302 (GRCm39)	missense	probably damaging	1.00
R7882:Plxnc1	UTSW	10	94,679,698 (GRCm39)	missense	probably benign
R8103:Plxnc1	UTSW	10	94,706,944 (GRCm39)	missense	probably benign
R8226:Plxnc1	UTSW	10	94,669,230 (GRCm39)	missense	possibly damaging	0.90
R8273:Plxnc1	UTSW	10	94,649,105 (GRCm39)	missense	probably benign	0.14
R8299:Plxnc1	UTSW	10	94,663,041 (GRCm39)	missense	probably benign	0.35
R8392:Plxnc1	UTSW	10	94,637,352 (GRCm39)	missense	possibly damaging	0.75
R8758:Plxnc1	UTSW	10	94,758,607 (GRCm39)	missense	possibly damaging	0.91
R8806:Plxnc1	UTSW	10	94,635,140 (GRCm39)	missense	probably damaging	1.00
R8882:Plxnc1	UTSW	10	94,677,428 (GRCm39)	missense	probably damaging	1.00
R8893:Plxnc1	UTSW	10	94,685,709 (GRCm39)	missense	probably benign	0.35
R8956:Plxnc1	UTSW	10	94,746,448 (GRCm39)	missense	probably benign	0.00
R9040:Plxnc1	UTSW	10	94,779,379 (GRCm39)	nonsense	probably null
R9102:Plxnc1	UTSW	10	94,663,107 (GRCm39)	missense	probably damaging	1.00
R9225:Plxnc1	UTSW	10	94,629,061 (GRCm39)	missense	probably damaging	1.00
R9324:Plxnc1	UTSW	10	94,780,685 (GRCm39)	start gained	probably benign
R9368:Plxnc1	UTSW	10	94,700,599 (GRCm39)	nonsense	probably null
R9375:Plxnc1	UTSW	10	94,649,093 (GRCm39)	missense	probably benign	0.20
R9430:Plxnc1	UTSW	10	94,758,544 (GRCm39)	missense	probably benign	0.01
R9460:Plxnc1	UTSW	10	94,700,895 (GRCm39)	missense	probably benign
R9498:Plxnc1	UTSW	10	94,649,004 (GRCm39)	missense	possibly damaging	0.48
RF003:Plxnc1	UTSW	10	94,630,306 (GRCm39)	missense	probably damaging	1.00
RF045:Plxnc1	UTSW	10	94,700,869 (GRCm39)	missense	probably damaging	1.00
RF046:Plxnc1	UTSW	10	94,700,869 (GRCm39)	missense	probably damaging	1.00
RF047:Plxnc1	UTSW	10	94,700,869 (GRCm39)	missense	probably damaging	1.00
X0024:Plxnc1	UTSW	10	94,700,577 (GRCm39)	critical splice donor site	probably null
Z1176:Plxnc1	UTSW	10	94,700,891 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CATTCCTAGAACAGTGAGTGTACC -3'
(R):5'- AATGTGCAGCTGTGAAGAGC -3'

Sequencing Primer
(F):5'- TCGACAGCAGCTTGGTCAGATAC -3'
(R):5'- TGCAGCTGTGAAGAGCCCATAG -3'

Posted On

2016-12-20