Incidental Mutation 'IGL01285:Plxnc1'
ID72669
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: 0.662) question?
Stock #IGL01285
Quality Score
Status
Chromosome10
Chromosomal Location94790866-94944835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94799368 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 1332 (D1332G)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
Predicted Effect probably damaging
Transcript: ENSMUST00000099337
AA Change: D1332G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: D1332G

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 24,781,594 N599S probably benign Het
Adam6a A T 12: 113,546,273 *755Y probably null Het
Adgrb3 G T 1: 25,093,787 T1166K probably benign Het
Ano1 T C 7: 144,644,742 Y345C probably benign Het
Ano1 A G 7: 144,595,538 V862A probably damaging Het
Asap2 C T 12: 21,229,263 A382V probably damaging Het
Asb18 A G 1: 89,996,241 V100A probably benign Het
Bdnf G A 2: 109,723,586 A102T probably benign Het
Ccser2 G A 14: 36,938,669 T509M probably damaging Het
Des G A 1: 75,362,583 A251T probably benign Het
Dmd C T X: 85,109,984 Q3224* probably null Het
Endog G T 2: 30,171,963 probably null Het
Ggt7 A G 2: 155,500,771 V269A probably damaging Het
Gm17727 A T 9: 35,776,748 N65K possibly damaging Het
Gm7173 A G X: 79,489,158 I767T possibly damaging Het
Gucy2c A G 6: 136,709,741 F808S probably damaging Het
Hira A G 16: 18,912,180 T210A probably benign Het
Ifitm5 C A 7: 140,950,163 R16L probably benign Het
Igdcc4 T C 9: 65,123,991 C404R probably damaging Het
Ints7 G A 1: 191,615,778 R754H probably benign Het
Irf9 A G 14: 55,607,601 E258G probably damaging Het
Megf11 T C 9: 64,660,446 C406R probably damaging Het
Olfml1 A G 7: 107,590,157 N143S possibly damaging Het
Olfr734 A G 14: 50,320,256 F193S possibly damaging Het
Olfr792 T A 10: 129,540,842 F102I probably benign Het
Olfr849 A G 9: 19,440,970 D19G probably benign Het
Otof G T 5: 30,405,183 Q254K probably damaging Het
Plcd3 A G 11: 103,077,870 F332L probably benign Het
Rnasel A T 1: 153,758,384 D521V probably benign Het
Sema5a T A 15: 32,574,997 V417D possibly damaging Het
Senp6 G A 9: 80,136,718 R877Q probably benign Het
Shroom2 A T X: 152,659,357 D937E probably damaging Het
Slc35a3 A G 3: 116,694,613 S142P probably damaging Het
Srpx A T X: 10,039,059 V398E probably damaging Het
Stk10 A T 11: 32,610,653 K669N possibly damaging Het
Sumf2 A G 5: 129,849,970 D49G probably damaging Het
Syde1 T A 10: 78,588,887 E370D probably damaging Het
Tas2r115 G T 6: 132,737,678 S103R probably damaging Het
Top2a G A 11: 99,006,159 probably benign Het
Ttn T A 2: 76,720,498 T23190S probably damaging Het
Ttyh3 C A 5: 140,629,412 C407F probably damaging Het
Vmn2r27 G T 6: 124,192,411 H587N possibly damaging Het
Vmn2r74 A G 7: 85,957,484 I218T possibly damaging Het
Vsig10 A G 5: 117,324,889 N60S probably benign Het
Zc3h7a A G 16: 11,139,115 S877P probably damaging Het
Zfp979 G T 4: 147,615,396 T29N probably damaging Het
Znfx1 G A 2: 167,038,695 R390C possibly damaging Het
Other mutations in Plxnc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Plxnc1 APN 10 94847549 missense probably benign 0.25
IGL01867:Plxnc1 APN 10 94798146 missense possibly damaging 0.61
IGL01994:Plxnc1 APN 10 94849939 missense probably damaging 1.00
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 On2013-10-07