Incidental Mutation 'R1746:Plxnc1'
ID 193996
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission 039778-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R1746 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 94680041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably null
Transcript: ENSMUST00000099337
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785

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 noncoding transcript
Transcript: ENSMUST00000180514
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,927,717 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aknad1 A G 3: 108,659,099 (GRCm39) T38A possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgap21 T C 2: 20,865,910 (GRCm39) E902G probably damaging Het
Atg2b A G 12: 105,635,588 (GRCm39) S227P possibly damaging Het
Atp2c2 C T 8: 120,461,182 (GRCm39) probably benign Het
Atxn10 T C 15: 85,260,864 (GRCm39) V203A probably damaging Het
Chd9 A C 8: 91,737,326 (GRCm39) E1468D probably benign Het
Cntn5 T A 9: 9,831,577 (GRCm39) D601V probably damaging Het
Col4a2 G A 8: 11,496,020 (GRCm39) G1547D probably benign Het
Cul1 A G 6: 47,485,179 (GRCm39) E270G probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dmgdh C A 13: 93,888,933 (GRCm39) T857K probably benign Het
Ednra T G 8: 78,398,211 (GRCm39) T279P probably benign Het
Erbin A G 13: 103,987,339 (GRCm39) I407T probably damaging Het
Fggy A G 4: 95,814,965 (GRCm39) Y440C probably damaging Het
Flrt2 A T 12: 95,747,566 (GRCm39) N635Y possibly damaging Het
Fnbp1l A G 3: 122,350,140 (GRCm39) I357T probably benign Het
Gulp1 A G 1: 44,793,513 (GRCm39) H58R possibly damaging Het
Hid1 A T 11: 115,245,464 (GRCm39) V446E probably damaging Het
Igfn1 A G 1: 135,897,561 (GRCm39) S1002P possibly damaging Het
Klri1 A G 6: 129,675,118 (GRCm39) probably null Het
Kmt2d A C 15: 98,762,259 (GRCm39) L409R probably damaging Het
Ltn1 A C 16: 87,208,669 (GRCm39) S810A possibly damaging Het
Mysm1 G A 4: 94,836,648 (GRCm39) Q721* probably null Het
Nae1 A G 8: 105,254,017 (GRCm39) V105A possibly damaging Het
Nagpa C T 16: 5,021,503 (GRCm39) V83M probably damaging Het
Nrg2 G A 18: 36,154,975 (GRCm39) T503M probably damaging Het
Nrxn3 A G 12: 89,221,789 (GRCm39) M150V possibly damaging Het
Or5p52 C A 7: 107,502,093 (GRCm39) H56Q probably benign Het
Or8g28 A G 9: 39,169,498 (GRCm39) S157P probably damaging Het
Papola T A 12: 105,773,468 (GRCm39) D162E probably benign Het
Ppp1r16b T A 2: 158,588,585 (GRCm39) probably null Het
Ptprq T A 10: 107,474,691 (GRCm39) E1338V probably damaging Het
Puf60 G A 15: 75,942,633 (GRCm39) H437Y probably benign Het
Qsox2 C T 2: 26,110,650 (GRCm39) V189I probably benign Het
Rad51ap2 A T 12: 11,507,776 (GRCm39) D566V probably benign Het
Rb1cc1 T A 1: 6,333,237 (GRCm39) probably null Het
Rfpl4b C T 10: 38,697,049 (GRCm39) C184Y possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rundc3a GAGCC GAGCCAGCC 11: 102,291,739 (GRCm39) probably null Het
Scara5 A C 14: 65,968,539 (GRCm39) M271L probably benign Het
Sel1l2 A G 2: 140,127,157 (GRCm39) L118P probably damaging Het
Sema6a T A 18: 47,439,416 (GRCm39) probably benign Het
Siglech T A 7: 55,418,252 (GRCm39) H73Q probably benign Het
Sim1 A G 10: 50,860,205 (GRCm39) D689G probably benign Het
Skp2 T C 15: 9,139,530 (GRCm39) E55G possibly damaging Het
Slc1a1 T A 19: 28,871,869 (GRCm39) V114E probably benign Het
Slc26a6 G A 9: 108,738,916 (GRCm39) G614D probably benign Het
Sptbn2 C T 19: 4,795,992 (GRCm39) Q1724* probably null Het
Tet3 T C 6: 83,345,050 (GRCm39) T1796A probably damaging Het
Tmem117 A C 15: 94,829,714 (GRCm39) D183A possibly damaging Het
Trmt44 A G 5: 35,721,403 (GRCm39) S587P probably benign Het
Ttn G T 2: 76,619,166 (GRCm39) probably benign Het
Tubgcp5 G A 7: 55,458,285 (GRCm39) V399M probably benign Het
Txndc2 T A 17: 65,945,130 (GRCm39) D349V probably damaging Het
Uggt2 T A 14: 119,250,915 (GRCm39) N1194I probably benign Het
Vmn1r178 A T 7: 23,593,329 (GRCm39) I53L probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript 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
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
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'- TCTCCAGACCAGGGATAAGAACAGC -3'
(R):5'- TGTGCAGAATACTTCCTGTGTGCC -3'

Sequencing Primer
(F):5'- gaagaaaggaaggaaggaaggg -3'
(R):5'- CCAGGTCTCTGAATACTGCG -3'
Posted On 2014-05-23