Incidental Mutation 'R9040:Plxnc1'
ID 687677
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission 068867-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R9040 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 94779379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 354 (C354*)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably null
Transcript: ENSMUST00000099337
AA Change: C354*
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: C354*

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: 99.0%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A C 8: 44,103,363 (GRCm39) probably benign Het
Agap1 T C 1: 89,671,466 (GRCm39) V391A probably damaging Het
Apba2 C T 7: 64,393,072 (GRCm39) A531V possibly damaging Het
Apcdd1 T A 18: 63,070,414 (GRCm39) V227E probably damaging Het
Bbs7 A G 3: 36,629,987 (GRCm39) V564A probably benign Het
Ccdc154 T A 17: 25,382,793 (GRCm39) M141K possibly damaging Het
Cd200l1 C A 16: 45,264,509 (GRCm39) K16N possibly damaging Het
Cdk9 C A 2: 32,597,999 (GRCm39) Q352H probably benign Het
Chsy3 T C 18: 59,542,760 (GRCm39) Y633H probably damaging Het
Cpz T A 5: 35,672,835 (GRCm39) Y195F possibly damaging Het
Cyp3a16 T C 5: 145,392,922 (GRCm39) R128G possibly damaging Het
Dhodh A T 8: 110,328,781 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,985 (GRCm39) S517N probably benign Het
Dock7 A T 4: 98,889,364 (GRCm39) L175* probably null Het
Duxf1 A G 10: 58,059,608 (GRCm39) I382T unknown Het
Ect2l A T 10: 18,077,098 (GRCm39) S2T possibly damaging Het
Epn3 G A 11: 94,382,749 (GRCm39) S445F possibly damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm7298 T C 6: 121,764,438 (GRCm39) F1439S probably benign Het
Hormad1 A T 3: 95,487,470 (GRCm39) E289D possibly damaging Het
Idua T C 5: 108,828,929 (GRCm39) L391P probably damaging Het
Kank2 G T 9: 21,706,115 (GRCm39) A301E probably damaging Het
Kcnk10 C T 12: 98,401,098 (GRCm39) E526K probably benign Het
Kif16b T C 2: 142,691,798 (GRCm39) I229V probably benign Het
Krt25 T C 11: 99,207,379 (GRCm39) Y400C probably benign Het
Krt26 C T 11: 99,222,093 (GRCm39) G405S probably benign Het
Krt42 G A 11: 100,157,859 (GRCm39) R202W probably damaging Het
Lbr A G 1: 181,644,910 (GRCm39) V547A probably damaging Het
Lrrc8b T C 5: 105,628,161 (GRCm39) L169P probably benign Het
Midn T A 10: 79,989,918 (GRCm39) V262D probably damaging Het
Mroh9 T A 1: 162,890,069 (GRCm39) I223F probably benign Het
Mtor C A 4: 148,548,205 (GRCm39) A490E probably benign Het
Muc16 G A 9: 18,556,082 (GRCm39) Q3404* probably null Het
Myo5a A T 9: 75,081,341 (GRCm39) E975D probably benign Het
Ncoa7 T C 10: 30,530,389 (GRCm39) Y764C probably benign Het
Nedd4l T C 18: 65,342,734 (GRCm39) L769P probably damaging Het
Or11g25 G T 14: 50,722,995 (GRCm39) G27W probably benign Het
Pank4 C G 4: 155,064,559 (GRCm39) T706R probably benign Het
Prkca A G 11: 107,905,186 (GRCm39) I184T possibly damaging Het
Prune2 T C 19: 17,097,991 (GRCm39) V1165A probably damaging Het
Psmc6 T A 14: 45,581,111 (GRCm39) D302E probably benign Het
Rab11fip5 A G 6: 85,324,915 (GRCm39) L464P probably damaging Het
Reg1 A T 6: 78,403,268 (GRCm39) probably benign Het
Rhbdf1 T C 11: 32,163,063 (GRCm39) T438A probably benign Het
Ryr2 T C 13: 11,609,672 (GRCm39) R4385G probably damaging Het
Ryr3 A G 2: 112,784,731 (GRCm39) Y237H probably damaging Het
Scai G T 2: 38,965,164 (GRCm39) T560K probably benign Het
Scn1a A G 2: 66,148,245 (GRCm39) L80P probably damaging Het
Sez6 T C 11: 77,864,762 (GRCm39) L574P probably benign Het
Slc41a1 T G 1: 131,768,623 (GRCm39) S194A probably damaging Het
Slc6a7 T C 18: 61,134,360 (GRCm39) probably benign Het
Slit3 A G 11: 35,594,136 (GRCm39) H1442R probably damaging Het
Sra1 A T 18: 36,808,790 (GRCm39) L281Q probably damaging Het
Steap2 A T 5: 5,732,722 (GRCm39) W101R probably benign Het
Tfap2b C T 1: 19,304,314 (GRCm39) R375W probably damaging Het
Tfr2 A T 5: 137,572,967 (GRCm39) T233S probably benign Het
Traf3ip1 T A 1: 91,429,092 (GRCm39) H286Q probably damaging Het
Ubash3a A G 17: 31,457,960 (GRCm39) probably benign Het
Vmn2r85 A G 10: 130,254,311 (GRCm39) I791T probably damaging Het
Zkscan4 T C 13: 21,668,229 (GRCm39) C256R probably benign Het
Zscan4-ps3 A T 7: 11,346,638 (GRCm39) N225Y 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
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'- CCACTAGAGTTTTGAACCTCCC -3'
(R):5'- TACAACTACACGAGTGGCGC -3'

Sequencing Primer
(F):5'- AGAGTTTTGAACCTCCCTCCAATC -3'
(R):5'- CAGAGGTGCTGTTCCAGG -3'
Posted On 2021-11-19