Mutagenetix > Incidental Mutation

Incidental Mutation 'R2031:Plxnc1'

221259

Institutional Source

Beutler Lab

Gene Symbol

Plxnc1

Ensembl Gene

ENSMUSG00000074785

Gene Name

plexin C1

Synonyms

2510048K12Rik, vespr, CD232

MMRRC Submission

040038-MU

Accession Numbers

Essential gene?

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

Stock #

R2031 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

94626728-94780697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 94779529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 304 (D304E)

Ref Sequence

ENSEMBL: ENSMUSP00000096939 (fasta)

Gene Model

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

AlphaFold

Q9QZC2

Predicted Effect

probably benign
Transcript: ENSMUST00000099337
AA Change: D304E

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: D304E

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: ENSMUST00000158521

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (55/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	G	T	5: 121,639,118 (GRCm39)	N642K	possibly damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Aoc1l1	T	C	6: 48,952,789 (GRCm39)	V238A	probably damaging	Het
Arhgap28	G	T	17: 68,203,111 (GRCm39)	T114N	probably damaging	Het
Arid5b	A	G	10: 68,114,518 (GRCm39)		probably null	Het
Atp10a	T	A	7: 58,477,678 (GRCm39)	C1292*	probably null	Het
Casp4	A	G	9: 5,321,401 (GRCm39)	S51G	probably benign	Het
Cast	T	C	13: 74,946,771 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,715 (GRCm39)	F736L	probably damaging	Het
Cdon	T	C	9: 35,415,370 (GRCm39)	S1203P	probably damaging	Het
Cep290	G	A	10: 100,348,262 (GRCm39)		probably null	Het
Cep85	A	G	4: 133,859,761 (GRCm39)	V634A	probably benign	Het
Cpeb3	C	T	19: 37,022,079 (GRCm39)	R589H	probably damaging	Het
Crebrf	T	G	17: 26,961,895 (GRCm39)	S331A	probably damaging	Het
Cul5	A	G	9: 53,578,480 (GRCm39)	V36A	probably benign	Het
Dock2	T	A	11: 34,618,297 (GRCm39)		probably benign	Het
Dstyk	G	A	1: 132,380,929 (GRCm39)	A475T	probably damaging	Het
Enpp6	C	A	8: 47,506,649 (GRCm39)	P151Q	probably damaging	Het
Fan1	A	G	7: 64,004,172 (GRCm39)	Y765H	probably damaging	Het
Hsfy2	A	T	1: 56,675,476 (GRCm39)	S354T	probably benign	Het
Ifi204	A	C	1: 173,580,343 (GRCm39)	F389C	probably damaging	Het
Ikbip	T	C	10: 90,932,474 (GRCm39)	Y373H	probably benign	Het
Kbtbd11	C	A	8: 15,078,021 (GRCm39)	P207T	possibly damaging	Het
Krt73	A	C	15: 101,707,199 (GRCm39)		probably benign	Het
Mfsd6	T	A	1: 52,748,013 (GRCm39)	Q284L	probably benign	Het
Mmp1b	T	A	9: 7,368,607 (GRCm39)	D415V	possibly damaging	Het
Mrc1	A	T	2: 14,326,584 (GRCm39)	T1161S	probably damaging	Het
Ms4a18	A	G	19: 10,991,014 (GRCm39)	S27P	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Mycbp2	G	T	14: 103,426,028 (GRCm39)	R2366S	probably damaging	Het
Nfkbia	A	G	12: 55,537,937 (GRCm39)	L172P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or1d2	A	G	11: 74,255,777 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	A	G	7: 106,341,105 (GRCm39)	F12S	probably damaging	Het
Or4c107	A	G	2: 88,789,643 (GRCm39)	T278A	probably benign	Het
Or51f1e	A	G	7: 102,747,371 (GRCm39)	Y141C	probably damaging	Het
Or5an10	A	T	19: 12,275,740 (GRCm39)	V252D	probably damaging	Het
Or5b112	T	C	19: 13,319,770 (GRCm39)	L216S	probably benign	Het
Parvb	A	T	15: 84,167,036 (GRCm39)	Y117F	probably benign	Het
Plch2	A	G	4: 155,127,484 (GRCm39)		probably benign	Het
Plxnb2	A	T	15: 89,047,013 (GRCm39)	C769*	probably null	Het
Prkg2	T	C	5: 99,172,310 (GRCm39)	D135G	possibly damaging	Het
Ptprb	A	G	10: 116,153,448 (GRCm39)	D635G	probably benign	Het
Rapgef6	T	G	11: 54,443,684 (GRCm39)	V89G	probably benign	Het
Ror2	T	A	13: 53,271,366 (GRCm39)	T330S	probably benign	Het
Ros1	A	G	10: 51,943,164 (GRCm39)	V2050A	possibly damaging	Het
Serpinb6e	T	C	13: 34,021,733 (GRCm39)		probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Smarca4	T	C	9: 21,597,358 (GRCm39)	V1371A	possibly damaging	Het
Syvn1	G	A	19: 6,100,560 (GRCm39)	R317H	probably damaging	Het
Tdo2	T	A	3: 81,876,812 (GRCm39)	D139V	probably damaging	Het
Tmem130	A	G	5: 144,689,236 (GRCm39)	V135A	possibly damaging	Het
Tpr	A	T	1: 150,317,870 (GRCm39)	Q2126L	probably benign	Het
Txlnb	A	G	10: 17,706,062 (GRCm39)	M324V	possibly damaging	Het
Ubxn10	A	G	4: 138,448,574 (GRCm39)	M34T	possibly damaging	Het
Vmn2r95	T	C	17: 18,659,717 (GRCm39)	W154R	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
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

Predicted Primers

PCR Primer
(F):5'- TGGTAAGTGTCACCCAAGACTC -3'
(R):5'- TTTCTCTGGAACGGCAGTGTC -3'

Sequencing Primer
(F):5'- GTGTCACCCAAGACTCCATCTG -3'
(R):5'- CTGGAACGGCAGTGTCTACTTC -3'

Posted On

2014-08-25