Incidental Mutation 'IGL01994:Plxnc1'
ID183623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Nameplexin C1
SynonymsCD232, vespr, 2510048K12Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.650) question?
Stock #IGL01994
Quality Score
Status
Chromosome10
Chromosomal Location94790866-94944835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94849939 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 730 (K730R)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
Predicted Effect probably damaging
Transcript: ENSMUST00000099337
AA Change: K730R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: K730R

DomainStartEndE-ValueType
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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,290,677 Y418N probably benign Het
Adam15 T C 3: 89,341,505 probably benign Het
Adam32 C A 8: 24,902,796 probably benign Het
Adamts12 T A 15: 11,345,594 C1574S probably damaging Het
Adck1 T C 12: 88,431,156 S187P possibly damaging Het
Atp13a3 A G 16: 30,337,518 V949A possibly damaging Het
Atxn3 T C 12: 101,942,180 T138A probably benign Het
Atxn7l2 C T 3: 108,203,543 R559Q probably damaging Het
Bicra G T 7: 15,972,816 S1233R possibly damaging Het
Cacybp G T 1: 160,206,636 N101K probably damaging Het
Cops7b T C 1: 86,601,106 L185P probably damaging Het
Cttnbp2 T C 6: 18,420,815 D899G possibly damaging Het
Cyp4f37 C T 17: 32,625,176 R85* probably null Het
Dnah3 T G 7: 119,951,214 N3294T possibly damaging Het
Elmo1 T A 13: 20,342,464 Y395N probably damaging Het
Fam234b T A 6: 135,225,205 Y308* probably null Het
Fam43a A G 16: 30,600,663 K22E probably damaging Het
Fcer2a T C 8: 3,688,302 N123D possibly damaging Het
Gm11595 A G 11: 99,772,201 C218R unknown Het
Gria4 T C 9: 4,537,726 Y194C probably damaging Het
Grin2d T C 7: 45,857,972 E435G probably damaging Het
Hectd1 T C 12: 51,797,942 E506G probably damaging Het
Htt G A 5: 34,832,604 S1160N possibly damaging Het
Ift140 A G 17: 25,048,443 E605G probably damaging Het
Il17re T C 6: 113,468,450 V374A probably benign Het
Ippk A G 13: 49,458,617 Q439R possibly damaging Het
Itgam G A 7: 128,101,727 V530M probably damaging Het
Kirrel3 A G 9: 35,020,133 H47R possibly damaging Het
Klk1b24 A T 7: 44,191,633 I162F probably damaging Het
Lama1 A T 17: 67,752,439 T606S probably benign Het
Lama2 C T 10: 27,467,203 probably null Het
Lrp2 A G 2: 69,483,601 I2262T probably benign Het
Mamdc4 A T 2: 25,568,534 I317N possibly damaging Het
Mtmr3 G T 11: 4,487,938 H839N probably benign Het
Ncr1 G T 7: 4,341,254 V177F probably benign Het
Nop58 T C 1: 59,704,083 S219P probably damaging Het
Nrg3 T C 14: 39,012,086 Y281C probably damaging Het
Nsf A G 11: 103,928,782 S54P probably damaging Het
Olfr421-ps1 T A 1: 174,151,536 S7T probably benign Het
Olfr687 A T 7: 105,275,946 noncoding transcript Het
Polr2g A T 19: 8,794,376 probably benign Het
Rps13 A G 7: 116,333,690 probably benign Het
Scgb2b7 A G 7: 31,703,984 I99T probably benign Het
Slc22a27 G T 19: 7,909,743 H260Q possibly damaging Het
Spata18 G T 5: 73,657,601 probably null Het
Tns2 A G 15: 102,111,379 E560G possibly damaging Het
Trbv16 T C 6: 41,151,781 probably benign Het
Ubr3 T A 2: 70,021,176 I1829N probably damaging Het
Vcl C T 14: 21,003,243 T442I probably damaging Het
Vmn2r102 T A 17: 19,660,469 I24N probably benign Het
Vmn2r114 T C 17: 23,310,477 D217G probably damaging Het
Vmn2r58 A G 7: 41,836,970 Y834H probably damaging Het
Zdhhc8 G T 16: 18,227,772 probably benign Het
Other mutations in Plxnc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Plxnc1 APN 10 94847549 missense probably benign 0.25
IGL01285:Plxnc1 APN 10 94799368 missense probably damaging 0.99
IGL01867:Plxnc1 APN 10 94798146 missense possibly damaging 0.61
IGL02083:Plxnc1 APN 10 94922725 missense possibly damaging 0.61
IGL02250:Plxnc1 APN 10 94871031 missense probably benign 0.00
IGL02429:Plxnc1 APN 10 94882591 missense probably benign 0.00
IGL02752:Plxnc1 APN 10 94794680 unclassified probably null
IGL02973:Plxnc1 APN 10 94810684 missense probably damaging 1.00
R0230:Plxnc1 UTSW 10 94799347 missense probably benign 0.07
R0265:Plxnc1 UTSW 10 94813129 missense probably benign 0.14
R0271:Plxnc1 UTSW 10 94837918 missense probably null 1.00
R0299:Plxnc1 UTSW 10 94849821 critical splice donor site probably null
R0361:Plxnc1 UTSW 10 94865007 missense probably damaging 1.00
R0441:Plxnc1 UTSW 10 94796482 missense probably damaging 1.00
R0558:Plxnc1 UTSW 10 94837935 missense probably damaging 1.00
R0617:Plxnc1 UTSW 10 94799368 missense probably damaging 1.00
R0671:Plxnc1 UTSW 10 94799332 missense possibly damaging 0.63
R0692:Plxnc1 UTSW 10 94837500 critical splice donor site probably null
R0751:Plxnc1 UTSW 10 94831333 splice site probably benign
R1184:Plxnc1 UTSW 10 94831333 splice site probably benign
R1260:Plxnc1 UTSW 10 94831365 missense probably damaging 0.99
R1680:Plxnc1 UTSW 10 94841551 missense probably benign 0.14
R1746:Plxnc1 UTSW 10 94844179 splice site probably null
R1750:Plxnc1 UTSW 10 94799497 missense probably damaging 1.00
R1751:Plxnc1 UTSW 10 94849815 unclassified probably benign
R1768:Plxnc1 UTSW 10 94844322 missense probably benign 0.05
R1876:Plxnc1 UTSW 10 94866941 missense possibly damaging 0.94
R2004:Plxnc1 UTSW 10 94852622 missense probably damaging 0.98
R2031:Plxnc1 UTSW 10 94943667 missense probably benign 0.26
R2184:Plxnc1 UTSW 10 94944269 missense probably damaging 1.00
R2437:Plxnc1 UTSW 10 94906533 missense probably benign 0.02
R2927:Plxnc1 UTSW 10 94793292 critical splice acceptor site probably null
R3001:Plxnc1 UTSW 10 94793218 missense probably damaging 0.98
R3002:Plxnc1 UTSW 10 94793218 missense probably damaging 0.98
R3003:Plxnc1 UTSW 10 94793218 missense probably damaging 0.98
R3441:Plxnc1 UTSW 10 94871010 missense probably benign 0.00
R3849:Plxnc1 UTSW 10 94794432 missense probably benign 0.01
R3884:Plxnc1 UTSW 10 94910687 intron probably null
R4004:Plxnc1 UTSW 10 94794597 nonsense probably null
R4679:Plxnc1 UTSW 10 94794444 missense probably damaging 1.00
R4730:Plxnc1 UTSW 10 94867468 intron probably benign
R4937:Plxnc1 UTSW 10 94841473 missense probably damaging 1.00
R5068:Plxnc1 UTSW 10 94799377 missense possibly damaging 0.91
R5345:Plxnc1 UTSW 10 94849969 missense probably benign 0.26
R5397:Plxnc1 UTSW 10 94843752 missense probably benign 0.08
R5416:Plxnc1 UTSW 10 94837554 missense probably damaging 1.00
R5485:Plxnc1 UTSW 10 94922742 missense probably benign 0.00
R5543:Plxnc1 UTSW 10 94864774 missense probably benign
R5826:Plxnc1 UTSW 10 94799473 critical splice donor site probably null
R6007:Plxnc1 UTSW 10 94793290 missense possibly damaging 0.88
R6018:Plxnc1 UTSW 10 94943848 missense probably benign 0.21
R6052:Plxnc1 UTSW 10 94943773 missense probably benign 0.13
R6291:Plxnc1 UTSW 10 94833642 splice site probably null
R6653:Plxnc1 UTSW 10 94943876 missense probably damaging 1.00
R6984:Plxnc1 UTSW 10 94831530 missense probably damaging 1.00
R7086:Plxnc1 UTSW 10 94831435 missense probably benign
R7401:Plxnc1 UTSW 10 94871005 missense probably benign
R7727:Plxnc1 UTSW 10 94944109 missense probably damaging 1.00
R7789:Plxnc1 UTSW 10 94794477 missense probably damaging 1.00
R7803:Plxnc1 UTSW 10 94943515 critical splice donor site probably null
R7809:Plxnc1 UTSW 10 94794440 missense probably damaging 1.00
R7882:Plxnc1 UTSW 10 94843836 missense probably benign
R7965:Plxnc1 UTSW 10 94843836 missense probably benign
RF003:Plxnc1 UTSW 10 94794444 missense probably damaging 1.00
RF045:Plxnc1 UTSW 10 94865007 missense probably damaging 1.00
RF046:Plxnc1 UTSW 10 94865007 missense probably damaging 1.00
RF047:Plxnc1 UTSW 10 94865007 missense probably damaging 1.00
X0024:Plxnc1 UTSW 10 94864715 critical splice donor site probably null
Z1176:Plxnc1 UTSW 10 94865029 missense probably benign 0.16
Posted On2014-05-07