Mutagenetix > Incidental Mutation

Incidental Mutation 'R2927:Plxnc1'

255800

Institutional Source

Beutler Lab

Gene Symbol

Plxnc1

Ensembl Gene

ENSMUSG00000074785

Gene Name

plexin C1

Synonyms

2510048K12Rik, vespr, CD232

Accession Numbers

Essential gene?

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

Stock #

R2927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94626728-94780697 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 94629154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020212] [ENSMUST00000099337]

AlphaFold

Q9QZC2

Predicted Effect

probably benign
Transcript: ENSMUST00000020212

SMART Domains

Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024

Domain	Start	End	E-Value	Type
coiled coil region	31	100	N/A	INTRINSIC
coiled coil region	121	602	N/A	INTRINSIC
coiled coil region	656	689	N/A	INTRINSIC

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218076

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Dsc2	T	C	18: 20,178,558 (GRCm39)	Y282C	probably damaging	Het
Dsg1b	C	A	18: 20,538,308 (GRCm39)	P638Q	probably benign	Het
Eea1	C	T	10: 95,849,220 (GRCm39)	S486L	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ift22	A	G	5: 136,941,799 (GRCm39)	D147G	probably damaging	Het
Igsf10	T	A	3: 59,236,848 (GRCm39)	Q1111L	probably benign	Het
Ikzf1	T	C	11: 11,719,324 (GRCm39)	Y344H	probably damaging	Het
Kif1c	T	A	11: 70,617,140 (GRCm39)	C813S	probably benign	Het
Krt16	A	G	11: 100,139,625 (GRCm39)	L31P	unknown	Het
Lrrc49	G	A	9: 60,501,029 (GRCm39)	R633*	probably null	Het
Mllt6	T	A	11: 97,571,602 (GRCm39)	F1080I	probably damaging	Het
Or52ae7	A	G	7: 103,120,089 (GRCm39)	Y281C	probably damaging	Het
Ppp4r2	T	C	6: 100,838,426 (GRCm39)	Y115H	probably damaging	Het
Pramel1	T	A	4: 143,125,388 (GRCm39)	D437E	probably benign	Het
Pstpip2	C	A	18: 77,949,589 (GRCm39)	Q133K	probably damaging	Het
Ptgs2	A	T	1: 149,977,011 (GRCm39)	T41S	possibly damaging	Het
Slc36a1	G	A	11: 55,123,201 (GRCm39)	A389T	probably damaging	Het
Vav2	A	G	2: 27,316,403 (GRCm39)	V30A	probably damaging	Het
Vmn1r119	C	T	7: 20,746,056 (GRCm39)	V109I	probably benign	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
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
R5826:Plxnc1	UTSW	10	94,635,335 (GRCm39)	critical splice donor site	probably null
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'- AAGTGGAACCCATGTGCAAAC -3'
(R):5'- AGCCCAAGTGTTGTTGATCCTG -3'

Sequencing Primer
(F):5'- TGGAACCCATGTGCAAACTTAAG -3'
(R):5'- GTTGATCCTGTGATAATGACTTAGC -3'

Posted On

2014-12-29