Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00843:Plxnc1'

13069

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxnc1

Ensembl Gene

ENSMUSG00000074785

Gene Name

plexin C1

Synonyms

2510048K12Rik, vespr, CD232

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

IGL00843

Quality Score

Status

Chromosome

Chromosomal Location

94626728-94780697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94683411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 791 (H791R)

Ref Sequence

ENSEMBL: ENSMUSP00000096939 (fasta)

Gene Model

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

AlphaFold

Q9QZC2

Predicted Effect

probably benign
Transcript: ENSMUST00000099337
AA Change: H791R

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: H791R

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: ENSMUST00000180514

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bglap	A	G	3: 88,291,657 (GRCm39)		probably null	Het
Bpnt2	T	C	4: 4,776,308 (GRCm39)		probably benign	Het
Clcn2	T	C	16: 20,522,391 (GRCm39)	T772A	probably benign	Het
Cldn18	A	T	9: 99,580,874 (GRCm39)	F125I	probably benign	Het
Ehhadh	A	G	16: 21,581,379 (GRCm39)	S538P	possibly damaging	Het
Ets2	T	G	16: 95,510,837 (GRCm39)	F32V	probably benign	Het
F5	G	A	1: 164,039,360 (GRCm39)	R1990Q	probably benign	Het
Fetub	A	G	16: 22,748,379 (GRCm39)		probably benign	Het
Hecw1	C	T	13: 14,422,158 (GRCm39)	E983K	probably benign	Het
Hemgn	A	G	4: 46,396,240 (GRCm39)	M332T	probably benign	Het
Hmcn1	A	G	1: 150,486,464 (GRCm39)	I4314T	possibly damaging	Het
Lonrf2	C	A	1: 38,851,616 (GRCm39)		probably benign	Het
Lrrc9	T	C	12: 72,510,191 (GRCm39)	I430T	possibly damaging	Het
Lrrk2	T	C	15: 91,641,261 (GRCm39)	V1606A	possibly damaging	Het
Oog2	G	T	4: 143,921,742 (GRCm39)	L217F	probably damaging	Het
Prdm2	G	A	4: 142,860,884 (GRCm39)	S802L	probably damaging	Het
Prss32	T	A	17: 24,076,336 (GRCm39)	L233Q	probably damaging	Het
Rapgef6	T	A	11: 54,582,099 (GRCm39)	V1337E	probably benign	Het
Slc15a3	T	A	19: 10,830,627 (GRCm39)	M326K	probably null	Het
Slc25a54	A	T	3: 109,020,176 (GRCm39)	T397S	possibly damaging	Het
Slfn3	C	T	11: 83,104,257 (GRCm39)	T376M	probably damaging	Het
Stradb	T	A	1: 59,033,568 (GRCm39)	D410E	probably benign	Het
Tdh	T	C	14: 63,733,213 (GRCm39)	T178A	probably damaging	Het
Tspan12	T	A	6: 21,851,081 (GRCm39)		probably benign	Het
Ube2b	A	T	11: 51,886,202 (GRCm39)	D50E	probably benign	Het
Zranb1	A	C	7: 132,551,622 (GRCm39)	H117P	probably benign	Het

Other mutations in Plxnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06