Mutagenetix > Incidental Mutation

Incidental Mutation 'R5345:Plxnc1'

422566

Institutional Source

Beutler Lab

Gene Symbol

Plxnc1

Ensembl Gene

ENSMUSG00000074785

Gene Name

plexin C1

Synonyms

2510048K12Rik, vespr, CD232

MMRRC Submission

042924-MU

Accession Numbers

Essential gene?

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

Stock #

R5345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94626728-94780697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94685831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 720 (H720L)

Ref Sequence

ENSEMBL: ENSMUSP00000096939 (fasta)

Gene Model

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

AlphaFold

Q9QZC2

Predicted Effect

probably benign
Transcript: ENSMUST00000099337
AA Change: H720L

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: H720L

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

Meta Mutation Damage Score

0.2155

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (65/66)

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
Abl1	T	A	2: 31,687,059 (GRCm39)	S519T	probably damaging	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acot1	T	A	12: 84,063,942 (GRCm39)	I350N	probably damaging	Het
Adam8	A	G	7: 139,567,552 (GRCm39)	V397A	probably benign	Het
Ankar	A	G	1: 72,709,310 (GRCm39)	M735T	possibly damaging	Het
Cacna1c	A	G	6: 118,633,497 (GRCm39)		probably null	Het
Cdc25b	A	G	2: 131,034,516 (GRCm39)	S222G	probably benign	Het
Celsr3	T	C	9: 108,709,323 (GRCm39)	S1390P	probably damaging	Het
Clca4a	T	G	3: 144,676,222 (GRCm39)	D104A	probably damaging	Het
Clcn6	A	T	4: 148,123,206 (GRCm39)		probably benign	Het
Coq8b	A	G	7: 26,949,773 (GRCm39)	T320A	probably benign	Het
Cspg5	A	T	9: 110,075,698 (GRCm39)	M145L	probably benign	Het
Cyp2c67	T	A	19: 39,614,676 (GRCm39)	I284F	probably benign	Het
Eya4	T	C	10: 22,985,947 (GRCm39)	I565V	probably benign	Het
Fbxw11	A	G	11: 32,688,471 (GRCm39)	N410S	probably damaging	Het
Gabrb2	C	T	11: 42,517,636 (GRCm39)	A448V	possibly damaging	Het
Hectd4	A	G	5: 121,402,037 (GRCm39)	D375G	possibly damaging	Het
Itsn2	T	C	12: 4,722,783 (GRCm39)	V1073A	probably damaging	Het
Kif5c	A	G	2: 49,613,078 (GRCm39)	T139A	probably benign	Het
L1td1	G	A	4: 98,624,684 (GRCm39)	G293D	probably damaging	Het
Lama1	A	G	17: 68,124,558 (GRCm39)	M2873V	probably benign	Het
Msantd5f6	A	T	4: 73,319,514 (GRCm39)	W77R	probably damaging	Het
Myo15a	A	G	11: 60,388,364 (GRCm39)	R1960G	probably damaging	Het
Nbeal1	T	C	1: 60,367,369 (GRCm39)		probably null	Het
Ndufb4	A	G	16: 37,474,540 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,840,341 (GRCm39)	L1089*	probably null	Het
Or10g3	G	A	14: 52,609,725 (GRCm39)	R262*	probably null	Het
Or2l13b	T	A	16: 19,349,527 (GRCm39)	I48F	probably damaging	Het
Or5aq1b	A	G	2: 86,901,836 (GRCm39)	V214A	possibly damaging	Het
P2rx1	A	G	11: 72,900,056 (GRCm39)	T158A	probably damaging	Het
Park7	A	G	4: 150,992,880 (GRCm39)		probably benign	Het
Parl	A	T	16: 20,116,892 (GRCm39)	F102I	probably damaging	Het
Ptpn4	A	G	1: 119,693,207 (GRCm39)	S140P	probably benign	Het
Rel	A	G	11: 23,692,462 (GRCm39)	S524P	probably benign	Het
Ripply2	A	G	9: 86,901,779 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,312,234 (GRCm39)	T158M	probably benign	Het
Rps4l-ps	T	C	7: 114,526,433 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	C	10: 43,808,466 (GRCm39)	L81P	probably damaging	Het
Sap130	T	C	18: 31,781,251 (GRCm39)	L138P	probably benign	Het
Scp2	A	T	4: 107,912,776 (GRCm39)		probably null	Het
Sec24c	T	A	14: 20,743,288 (GRCm39)	M970K	probably benign	Het
Setd5	C	T	6: 113,092,968 (GRCm39)	P340L	probably damaging	Het
Sgcg	A	T	14: 61,483,218 (GRCm39)	M61K	probably damaging	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Slc34a1	A	G	13: 55,548,331 (GRCm39)	R21G	probably benign	Het
Slc7a14	A	C	3: 31,278,006 (GRCm39)	L533W	probably damaging	Het
Srsf9	A	G	5: 115,468,595 (GRCm39)	D77G	probably benign	Het
Tab1	A	T	15: 80,034,014 (GRCm39)	E119V	possibly damaging	Het
Tcstv5	A	T	13: 120,411,384 (GRCm39)	V74E	probably damaging	Het
Tnrc6c	C	T	11: 117,614,113 (GRCm39)	A757V	possibly damaging	Het
Tradd	A	T	8: 105,986,556 (GRCm39)	I72N	probably damaging	Het
Trbv12-1	C	T	6: 41,090,781 (GRCm39)	T51M	probably benign	Het
Tsga10	T	C	1: 37,802,392 (GRCm39)	K605E	probably damaging	Het
Vwc2l	A	G	1: 70,768,077 (GRCm39)	D47G	probably damaging	Het
Zfp647	T	A	15: 76,795,695 (GRCm39)	T322S	possibly damaging	Het
Zscan20	A	C	4: 128,481,914 (GRCm39)	S583A	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
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
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'- ATGTACATCACCCTTCACCG -3'
(R):5'- AGGAACCCAGCCTTAGAGAG -3'

Sequencing Primer
(F):5'- TTCACCGGAAGAAGAGAAGCCC -3'
(R):5'- GCCTTAGAGAGCCAGACCC -3'

Posted On

2016-08-04