Incidental Mutation 'R8299:Plxnc1'
ID 639145
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission 067787-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R8299 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94663041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 1203 (N1203Y)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably benign
Transcript: ENSMUST00000099337
AA Change: N1203Y

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: N1203Y

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: 99.7%
  • 20x: 99.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 C A 10: 69,811,981 (GRCm39) P1216Q probably damaging Het
Aspscr1 T C 11: 120,599,900 (GRCm39) Y164H Het
Atp13a3 A C 16: 30,152,619 (GRCm39) F1021C probably damaging Het
Bcl9 T C 3: 97,112,852 (GRCm39) D1201G probably damaging Het
Bora G A 14: 99,305,570 (GRCm39) R313Q probably benign Het
Cdh19 A G 1: 110,847,278 (GRCm39) Y444H probably benign Het
Cep70 A T 9: 99,144,914 (GRCm39) M87L possibly damaging Het
Clstn3 A G 6: 124,414,332 (GRCm39) probably null Het
Cntnap4 G A 8: 113,500,324 (GRCm39) G539S probably damaging Het
Csf2rb T A 15: 78,230,669 (GRCm39) Y471N possibly damaging Het
Dctn4 T A 18: 60,678,872 (GRCm39) I197N probably benign Het
Ednrb A G 14: 104,060,936 (GRCm39) L163P probably damaging Het
Elovl2 T C 13: 41,345,396 (GRCm39) N101D probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etl4 T A 2: 20,748,874 (GRCm39) I404K possibly damaging Het
Gadd45a A G 6: 67,014,183 (GRCm39) probably null Het
Gfod2 T C 8: 106,454,794 (GRCm39) T29A probably benign Het
Hltf A G 3: 20,136,986 (GRCm39) K408E possibly damaging Het
Inf2 A G 12: 112,570,546 (GRCm39) T362A probably benign Het
Klhl12 G A 1: 134,416,678 (GRCm39) G467R probably damaging Het
Lrrk2 A T 15: 91,557,443 (GRCm39) probably benign Het
Mcee G A 7: 64,061,621 (GRCm39) E29K unknown Het
Mki67 A T 7: 135,306,349 (GRCm39) I571N probably damaging Het
Morc3 T C 16: 93,650,088 (GRCm39) Y290H probably damaging Het
Mtcl2 T G 2: 156,862,651 (GRCm39) E1426A possibly damaging Het
Muc4 A G 16: 32,576,271 (GRCm39) T1924A unknown Het
Myh14 T A 7: 44,276,472 (GRCm39) D1170V probably damaging Het
Or10al5 G T 17: 38,062,891 (GRCm39) E49* probably null Het
Or51a6 T C 7: 102,604,739 (GRCm39) E30G probably damaging Het
Or55b4 T C 7: 102,133,409 (GRCm39) H306R probably benign Het
Or6c66 T C 10: 129,461,829 (GRCm39) I34V probably benign Het
Pcdhb17 T C 18: 37,618,408 (GRCm39) I66T probably damaging Het
Pkhd1l1 T C 15: 44,445,330 (GRCm39) V3734A probably benign Het
Plcb1 T C 2: 135,177,396 (GRCm39) L576P probably damaging Het
Pramel16 T C 4: 143,677,327 (GRCm39) N84S probably benign Het
Prkn T G 17: 11,456,408 (GRCm39) S77R probably benign Het
Rev3l C T 10: 39,697,537 (GRCm39) S678L probably benign Het
Rims3 T C 4: 120,746,569 (GRCm39) Y197H probably damaging Het
S1pr4 A G 10: 81,335,267 (GRCm39) M69T probably benign Het
Sf3a1 T C 11: 4,129,420 (GRCm39) Y757H possibly damaging Het
Slc30a9 T A 5: 67,484,248 (GRCm39) N128K probably damaging Het
Slc35a4 T C 18: 36,815,980 (GRCm39) V270A possibly damaging Het
Speg A C 1: 75,364,480 (GRCm39) D287A possibly damaging Het
St18 T C 1: 6,873,216 (GRCm39) V317A probably benign Het
Stk11 G T 10: 79,963,867 (GRCm39) E350D probably benign Het
Strn3 A G 12: 51,694,890 (GRCm39) L291S probably damaging Het
Susd1 C T 4: 59,315,773 (GRCm39) V733I probably benign Het
Tep1 T C 14: 51,105,502 (GRCm39) R173G probably benign Het
Tmem115 T C 9: 107,411,745 (GRCm39) V23A possibly damaging Het
Top2b A G 14: 16,386,123 (GRCm38) N110D possibly damaging Het
Wfikkn2 C T 11: 94,129,890 (GRCm39) V84M 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
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
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'- TTGGAAATTGACGAGTATCCCAG -3'
(R):5'- TCAGAGCTAACTGTTGCTTTTGC -3'

Sequencing Primer
(F):5'- ATTGACGAGTATCCCAGGCATCG -3'
(R):5'- GCAACTTTTTCCAAGGAGACTG -3'
Posted On 2020-07-28