Incidental Mutation 'R8103:Plxnc1'
ID 630590
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission 067534-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R8103 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94706944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 531 (H531L)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably benign
Transcript: ENSMUST00000099337
AA Change: H531L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: H531L

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
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.7%
  • 20x: 95.4%
Validation Efficiency 100% (83/83)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,668 (GRCm39) D216G probably benign Het
Abcg5 A T 17: 84,965,956 (GRCm39) I640K possibly damaging Het
Acadvl T C 11: 69,905,168 (GRCm39) K128R probably benign Het
Angptl7 T A 4: 148,581,018 (GRCm39) N259I probably damaging Het
Ankrd35 A G 3: 96,586,997 (GRCm39) K104R possibly damaging Het
Antxr1 T C 6: 87,165,198 (GRCm39) N413S probably damaging Het
Arhgap26 A G 18: 39,504,177 (GRCm39) T376A Het
Atf6b T G 17: 34,872,949 (GRCm39) S622A probably damaging Het
Atp5pd T A 11: 115,306,851 (GRCm39) Y115F possibly damaging Het
Axin2 T C 11: 108,822,369 (GRCm39) L307P probably damaging Het
B4galnt4 C T 7: 140,644,564 (GRCm39) T153M possibly damaging Het
Brd8 A G 18: 34,740,231 (GRCm39) V604A probably benign Het
Ccser2 T C 14: 36,618,240 (GRCm39) Y765C probably damaging Het
Cdh26 A G 2: 178,110,006 (GRCm39) D433G probably damaging Het
Cep85l T G 10: 53,175,420 (GRCm39) probably null Het
Ciao3 A G 17: 25,996,395 (GRCm39) T135A probably benign Het
Col23a1 T A 11: 51,461,014 (GRCm39) probably null Het
Col7a1 A G 9: 108,804,452 (GRCm39) D2261G unknown Het
Comp C A 8: 70,833,936 (GRCm39) N650K probably damaging Het
Copb1 A G 7: 113,834,202 (GRCm39) M476T possibly damaging Het
Dapk1 T A 13: 60,897,009 (GRCm39) S743T probably damaging Het
Ddx39a A G 8: 84,451,105 (GRCm39) probably null Het
Dgkb A G 12: 38,186,580 (GRCm39) H243R probably damaging Het
Dsg1c T G 18: 20,416,171 (GRCm39) Y691D probably damaging Het
Duox2 C T 2: 122,117,535 (GRCm39) S933N probably benign Het
Ece1 T C 4: 137,641,133 (GRCm39) S19P probably benign Het
Edem1 G A 6: 108,829,524 (GRCm39) E548K probably damaging Het
Eif4a3l2 C T 6: 116,528,468 (GRCm39) T115I probably damaging Het
Fpr-rs6 A G 17: 20,402,839 (GRCm39) V174A possibly damaging Het
Fyco1 A T 9: 123,658,453 (GRCm39) N574K probably benign Het
Glb1l2 T A 9: 26,676,980 (GRCm39) M551L probably benign Het
Gm7694 G T 1: 170,130,284 (GRCm39) P38Q probably damaging Het
Grip1 A G 10: 119,814,440 (GRCm39) T324A probably benign Het
Htr3b A G 9: 48,857,849 (GRCm39) V131A possibly damaging Het
Igfbp1 T C 11: 7,148,106 (GRCm39) C50R probably damaging Het
Il5ra A G 6: 106,692,611 (GRCm39) I378T possibly damaging Het
Ints11 T C 4: 155,972,687 (GRCm39) L504P possibly damaging Het
Iqca1 A T 1: 89,987,330 (GRCm39) I74N Het
Kbtbd12 C T 6: 88,595,663 (GRCm39) A56T probably damaging Het
Kcnq5 T C 1: 21,549,620 (GRCm39) N369S possibly damaging Het
Kmt5b A G 19: 3,865,381 (GRCm39) D815G probably benign Het
Lnpk T C 2: 74,352,599 (GRCm39) Q361R probably benign Het
Mep1b T C 18: 21,222,442 (GRCm39) I277T possibly damaging Het
Naip6 G A 13: 100,437,851 (GRCm39) T385I probably benign Het
Npepl1 A T 2: 173,953,002 (GRCm39) I95F probably benign Het
Nxpe4 T C 9: 48,304,020 (GRCm39) F36L probably benign Het
Optn C A 2: 5,045,013 (GRCm39) C243F probably damaging Het
Or10al7 A T 17: 38,365,903 (GRCm39) C185S probably damaging Het
Or1e33 C T 11: 73,738,735 (GRCm39) C72Y probably damaging Het
Paqr7 T C 4: 134,234,821 (GRCm39) V226A probably benign Het
Pcdh12 T A 18: 38,415,212 (GRCm39) I638F probably damaging Het
Pfas T C 11: 68,883,119 (GRCm39) T722A probably damaging Het
Pkhd1 T A 1: 20,270,981 (GRCm39) I3191F probably damaging Het
Pom121l2 A G 13: 22,166,544 (GRCm39) T272A probably benign Het
Pparg T C 6: 115,450,102 (GRCm39) V367A possibly damaging Het
Psen2 A T 1: 180,068,356 (GRCm39) M99K probably damaging Het
Ranbp10 T C 8: 106,499,179 (GRCm39) T536A probably benign Het
Rbfox2 G T 15: 76,983,654 (GRCm39) P284T probably damaging Het
Rbmyf9 C T Y: 3,776,675 (GRCm39) T104I possibly damaging Het
Rere G A 4: 150,701,796 (GRCm39) R25H probably damaging Het
Rhpn1 T A 15: 75,581,115 (GRCm39) L119Q probably null Het
Rlig1 C A 10: 100,413,110 (GRCm39) V178F probably benign Het
Rreb1 A G 13: 38,125,677 (GRCm39) T1328A probably benign Het
Septin11 A T 5: 93,309,007 (GRCm39) probably null Het
Skida1 T A 2: 18,052,549 (GRCm39) Q201L probably benign Het
Sptan1 T A 2: 29,910,055 (GRCm39) I1805N probably damaging Het
Stard13 T A 5: 150,970,435 (GRCm39) Q853L possibly damaging Het
Susd1 T A 4: 59,365,916 (GRCm39) probably null Het
Szt2 T A 4: 118,245,061 (GRCm39) Q1158H possibly damaging Het
Tbcc A C 17: 47,202,046 (GRCm39) D144A probably benign Het
Tsn A G 1: 118,232,437 (GRCm39) I146T probably benign Het
Umad1 A T 6: 8,427,121 (GRCm39) T99S probably damaging Het
Vcan T A 13: 89,805,777 (GRCm39) E3261V probably damaging Het
Vcan C A 13: 89,851,439 (GRCm39) E1174* probably null Het
Vmn2r100 C A 17: 19,751,415 (GRCm39) probably null Het
Vmn2r65 A G 7: 84,595,919 (GRCm39) I255T probably damaging Het
Vps35l T C 7: 118,342,855 (GRCm39) S47P probably benign Het
Wdr70 A G 15: 8,006,612 (GRCm39) L313P possibly damaging Het
Ythdf2 C A 4: 131,932,089 (GRCm39) R357L probably damaging Het
Zfp523 T C 17: 28,420,267 (GRCm39) C262R probably damaging Het
Zfp553 T C 7: 126,835,936 (GRCm39) V497A probably benign Het
Zhx1 A G 15: 57,916,662 (GRCm39) L528S 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
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'- CTGAACTCAGGAGAGGCTCTTG -3'
(R):5'- AACTCTCCTTCCCATGGCAG -3'

Sequencing Primer
(F):5'- GTTCTTGACTGTATAATGATTGCCC -3'
(R):5'- CGTTATCCTTATGGCAACGAGCAG -3'
Posted On 2020-06-30