Incidental Mutation 'R2004:Plxnc1'
ID 223425
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission 040013-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R2004 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94688484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 698 (I698T)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably damaging
Transcript: ENSMUST00000099337
AA Change: I698T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: I698T

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,092,561 (GRCm39) Y146* probably null Het
Adcy2 A G 13: 68,944,722 (GRCm39) L220P probably damaging Het
Agl T C 3: 116,574,914 (GRCm39) Y660C probably damaging Het
Ak1 A G 2: 32,519,622 (GRCm39) T17A probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Ankrd11 A T 8: 123,629,161 (GRCm39) probably null Het
Ap5b1 T C 19: 5,620,502 (GRCm39) S641P possibly damaging Het
Apoc4 A G 7: 19,415,304 (GRCm39) M1T probably null Het
Arhgap5 T C 12: 52,564,817 (GRCm39) V596A probably benign Het
Ascc3 A G 10: 50,493,838 (GRCm39) E91G probably damaging Het
Bach2 T A 4: 32,580,055 (GRCm39) V637E probably benign Het
Bicd2 T G 13: 49,532,881 (GRCm39) L489R possibly damaging Het
Bltp1 C T 3: 36,949,527 (GRCm39) T2I possibly damaging Het
Boc A T 16: 44,322,007 (GRCm39) probably null Het
Cbln2 T A 18: 86,734,791 (GRCm39) V188D probably damaging Het
Ccl11 A C 11: 81,953,123 (GRCm39) T94P probably damaging Het
Cd109 A T 9: 78,611,044 (GRCm39) H1220L probably benign Het
Cd226 A G 18: 89,265,435 (GRCm39) I125V probably benign Het
Cep135 T A 5: 76,780,176 (GRCm39) probably null Het
Cgnl1 T G 9: 71,537,821 (GRCm39) E1233A probably damaging Het
Ckap5 T A 2: 91,437,891 (GRCm39) D1597E possibly damaging Het
Clptm1 A G 7: 19,380,762 (GRCm39) I63T possibly damaging Het
Cpsf7 C T 19: 10,518,073 (GRCm39) P428S probably damaging Het
Cuedc1 C T 11: 88,068,216 (GRCm39) P155S probably damaging Het
Dgkb T C 12: 38,134,228 (GRCm39) Y45H probably damaging Het
Dglucy T C 12: 100,823,181 (GRCm39) F459L probably damaging Het
Dmp1 T A 5: 104,359,790 (GRCm39) D155E possibly damaging Het
Dnah1 T A 14: 31,023,813 (GRCm39) I960F possibly damaging Het
Drosha G T 15: 12,915,467 (GRCm39) M795I probably damaging Het
Dsg1b A G 18: 20,529,532 (GRCm39) T326A probably damaging Het
Dusp16 T G 6: 134,695,802 (GRCm39) N343T probably benign Het
Faim2 T C 15: 99,398,127 (GRCm39) S274G possibly damaging Het
Fhip2a G T 19: 57,370,324 (GRCm39) V523L probably benign Het
Fndc1 T C 17: 8,023,761 (GRCm39) R65G probably damaging Het
Fnip2 A T 3: 79,419,632 (GRCm39) probably benign Het
Grm3 T C 5: 9,639,793 (GRCm39) Y84C possibly damaging Het
Herc2 T C 7: 55,787,607 (GRCm39) F1755L probably damaging Het
Hivep1 C T 13: 42,313,625 (GRCm39) T1955I possibly damaging Het
Ift20 T C 11: 78,431,797 (GRCm39) I97T probably damaging Het
Il36rn T C 2: 24,171,376 (GRCm39) C155R probably damaging Het
Lca5l T A 16: 95,963,849 (GRCm39) K358N probably damaging Het
Lca5l T C 16: 95,977,218 (GRCm39) N196S possibly damaging Het
Maf1 G A 15: 76,237,563 (GRCm39) D175N probably damaging Het
Mical3 T C 6: 120,928,283 (GRCm39) K996E probably damaging Het
Midn A G 10: 79,990,983 (GRCm39) N331S probably benign Het
Mki67 T A 7: 135,300,238 (GRCm39) K1599* probably null Het
Mlx A G 11: 100,979,805 (GRCm39) Q162R possibly damaging Het
Nalf1 A G 8: 9,820,607 (GRCm39) S138P probably benign Het
Ngp T C 9: 110,249,929 (GRCm39) C76R probably damaging Het
Nin C T 12: 70,072,251 (GRCm39) G1210D probably benign Het
Nlgn1 A G 3: 25,488,034 (GRCm39) I738T probably benign Het
Nop53 A C 7: 15,672,153 (GRCm39) F465C probably damaging Het
Npas3 A G 12: 54,114,680 (GRCm39) D503G possibly damaging Het
Npbwr1 T A 1: 5,986,570 (GRCm39) S315C probably damaging Het
Nup42 G T 5: 24,386,989 (GRCm39) G260* probably null Het
Ogdh G C 11: 6,284,626 (GRCm39) R200P possibly damaging Het
Or4b13 T A 2: 90,083,036 (GRCm39) I99L probably benign Het
Or52n20 A G 7: 104,320,808 (GRCm39) T300A possibly damaging Het
Or5m13b T G 2: 85,753,939 (GRCm39) probably null Het
Or6ae1 C T 7: 139,742,729 (GRCm39) V45I probably damaging Het
Or7g16 G A 9: 18,726,801 (GRCm39) S263L probably benign Het
Or7g33 A T 9: 19,448,688 (GRCm39) C179* probably null Het
Ovgp1 T A 3: 105,894,309 (GRCm39) probably benign Het
Papln T A 12: 83,819,992 (GRCm39) C150S probably damaging Het
Pde1c A T 6: 56,135,996 (GRCm39) L316Q probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Piezo2 G T 18: 63,277,997 (GRCm39) D302E probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plin1 A G 7: 79,375,378 (GRCm39) probably benign Het
Ppp1r12c G T 7: 4,485,974 (GRCm39) C572* probably null Het
Ptgis T C 2: 167,056,769 (GRCm39) M273V possibly damaging Het
Samd14 C A 11: 94,914,110 (GRCm39) T283K probably damaging Het
Scnn1g A T 7: 121,337,411 (GRCm39) K91* probably null Het
Slc24a4 A G 12: 102,180,166 (GRCm39) Q95R probably damaging Het
Slfn9 T G 11: 82,879,027 (GRCm39) D34A probably benign Het
Smarca4 A T 9: 21,588,776 (GRCm39) I1193F probably damaging Het
Spata31e5 A G 1: 28,816,260 (GRCm39) W591R probably damaging Het
Sphkap T C 1: 83,255,632 (GRCm39) M706V probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stxbp1 T C 2: 32,688,201 (GRCm39) D488G probably damaging Het
Sugp2 C T 8: 70,695,306 (GRCm39) probably null Het
Tekt5 T C 16: 10,213,070 (GRCm39) I72V probably benign Het
Themis T A 10: 28,658,720 (GRCm39) N582K probably benign Het
Tmed11 C A 5: 108,934,000 (GRCm39) M65I possibly damaging Het
Top3a G T 11: 60,633,315 (GRCm39) P927Q probably damaging Het
Trpa1 A T 1: 14,976,207 (GRCm39) N165K possibly damaging Het
Tsfm A G 10: 126,866,663 (GRCm39) S2P probably damaging Het
Wdr47 C A 3: 108,534,758 (GRCm39) S559* probably null Het
Wnt2b T C 3: 104,860,331 (GRCm39) Y192C probably damaging Het
Zfp280b A G 10: 75,874,370 (GRCm39) D83G probably benign Het
Zfp345 T C 2: 150,314,038 (GRCm39) T500A possibly damaging Het
Zfp78 T A 7: 6,382,074 (GRCm39) C343S probably damaging 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
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
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'- GAGTCTCCCACCTGAATGTC -3'
(R):5'- GACACGAATCTTCAGCCCTC -3'

Sequencing Primer
(F):5'- GAGTCTCCCACCTGAATGTCAAATG -3'
(R):5'- TAGTGAGTTCTTCGAACCGCAAC -3'
Posted On 2014-08-25