Incidental Mutation 'R9102:Plxnc1'
ID 691766
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission 068916-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R9102 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94663107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1181 (V1181M)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably damaging
Transcript: ENSMUST00000099337
AA Change: V1181M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: V1181M

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (62/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam33 T C 2: 130,897,737 (GRCm39) Q227R probably benign Het
Adgrb2 G A 4: 129,912,802 (GRCm39) G1276D probably benign Het
Adra1b A G 11: 43,667,056 (GRCm39) S394P possibly damaging Het
Arap2 T A 5: 62,906,341 (GRCm39) H226L probably benign Het
Bckdk A G 7: 127,506,658 (GRCm39) D297G probably null Het
Brwd1 T C 16: 95,869,725 (GRCm39) T101A probably benign Het
Ciita A G 16: 10,324,565 (GRCm39) R166G probably benign Het
Cnksr1 A G 4: 133,956,323 (GRCm39) F587S probably damaging Het
Col4a1 A T 8: 11,253,007 (GRCm39) C1548S possibly damaging Het
Cxcl15 G T 5: 90,949,154 (GRCm39) M106I Het
Dennd6a T C 14: 26,350,689 (GRCm39) I598T probably damaging Het
Dlg5 G A 14: 24,199,567 (GRCm39) P1446S probably damaging Het
Dnah6 A T 6: 73,044,469 (GRCm39) I3214N probably benign Het
Dnmt3b T C 2: 153,518,703 (GRCm39) V622A probably damaging Het
Fam170b T A 14: 32,557,404 (GRCm39) S80T probably damaging Het
Fbxl13 G T 5: 21,837,801 (GRCm39) H45Q probably benign Het
Fbxo39 T C 11: 72,208,316 (GRCm39) F223L possibly damaging Het
Fndc3b C A 3: 27,523,014 (GRCm39) probably null Het
Gbp3 G C 3: 142,273,586 (GRCm39) V378L probably benign Het
Gc C T 5: 89,591,444 (GRCm39) S98N probably benign Het
Gck A G 11: 5,856,516 (GRCm39) Y214H probably damaging Het
Gpr158 A T 2: 21,830,078 (GRCm39) S708C probably damaging Het
Hmcn1 A T 1: 150,573,331 (GRCm39) M2106K probably benign Het
Hoxd11 T A 2: 74,513,274 (GRCm39) Y180N possibly damaging Het
Hydin A G 8: 111,235,546 (GRCm39) I1844V probably benign Het
Knl1 T C 2: 118,917,973 (GRCm39) I1777T probably benign Het
Krt33b A C 11: 99,915,846 (GRCm39) L300R probably damaging Het
Madd C T 2: 90,988,404 (GRCm39) A1208T probably benign Het
Meis2 T A 2: 115,694,760 (GRCm39) N461I probably benign Het
Mgat1 T A 11: 49,152,165 (GRCm39) V216E probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Npc1l1 C T 11: 6,164,684 (GRCm39) V1122M possibly damaging Het
Nrsn1 A G 13: 25,437,517 (GRCm39) M137T probably benign Het
Nrxn3 T C 12: 90,298,924 (GRCm39) S1015P probably benign Het
Nudt22 T A 19: 6,972,119 (GRCm39) I166F probably benign Het
Or10d1b A C 9: 39,613,984 (GRCm39) V27G probably benign Het
Or5j1 C T 2: 86,879,171 (GRCm39) M136I possibly damaging Het
Or6k4 A T 1: 173,964,322 (GRCm39) N4I Het
Or6n2 T A 1: 173,897,176 (GRCm39) F104Y probably damaging Het
Or8b4 T A 9: 37,829,992 (GRCm39) I13N probably damaging Het
Or8g31-ps1 C T 9: 39,276,388 (GRCm39) P178S unknown Het
Pcdha4 T A 18: 37,087,630 (GRCm39) N604K probably damaging Het
Pms1 G C 1: 53,307,021 (GRCm39) H128Q probably benign Het
Prkar2b G A 12: 32,013,025 (GRCm39) H364Y probably benign Het
Pus7 A T 5: 23,957,380 (GRCm39) I357K possibly damaging Het
Rsf1 GCGGC GCGGCGGCGCCGGC 7: 97,229,138 (GRCm39) probably benign Het
Ryr3 T C 2: 112,508,906 (GRCm39) probably benign Het
Siglec1 T C 2: 130,915,389 (GRCm39) I1401V probably benign Het
Slc6a6 G T 6: 91,731,940 (GRCm39) V590L probably benign Het
Slc9b1 C T 3: 135,100,725 (GRCm39) P490L probably damaging Het
Sprn T C 7: 139,733,278 (GRCm39) D98G possibly damaging Het
Srrm4 T C 5: 116,620,563 (GRCm39) D55G unknown Het
Sugct A G 13: 17,497,833 (GRCm39) V280A probably benign Het
Tbx6 A G 7: 126,381,014 (GRCm39) E83G possibly damaging Het
Tmem120a T C 5: 135,765,455 (GRCm39) T209A probably benign Het
Top3a T C 11: 60,647,155 (GRCm39) R255G probably damaging Het
Trav6-1 T A 14: 52,876,008 (GRCm39) F13I probably benign Het
Tsnaxip1 A G 8: 106,568,622 (GRCm39) E410G probably benign Het
Ubr5 A G 15: 38,018,596 (GRCm39) V842A Het
Ubtf A G 11: 102,201,015 (GRCm39) probably null Het
Vwa3b G A 1: 37,174,593 (GRCm39) M1I probably null Het
Zfp518b T C 5: 38,831,181 (GRCm39) T275A probably benign Het
Other mutations in Plxnc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CAATTATGTGGATGCCCCGG -3'
(R):5'- CATAGTGTGCAAGAAGGAGTTTC -3'

Sequencing Primer
(F):5'- GGGCCTCCCACAGTCAG -3'
(R):5'- ATGTGCTGCGCGTTTCCAC -3'
Posted On 2021-12-30