Incidental Mutation 'R9430:Plxnc1'
ID 712903
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R9430 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94758544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 384 (V384A)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably benign
Transcript: ENSMUST00000099337
AA Change: V384A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: V384A

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A C 1: 59,231,198 (GRCm39) N804K probably benign Het
Arid5b C A 10: 68,022,087 (GRCm39) probably null Het
Brd2 T C 17: 34,331,610 (GRCm39) D779G unknown Het
Brox A T 1: 183,069,353 (GRCm39) V118E probably damaging Het
Ccdc137 A T 11: 120,349,530 (GRCm39) E76V probably damaging Het
Ccdc150 A G 1: 54,320,930 (GRCm39) K327E probably damaging Het
Ccdc171 A G 4: 83,522,362 (GRCm39) E342G probably damaging Het
Cd109 G A 9: 78,574,698 (GRCm39) probably null Het
Cep85 C A 4: 133,894,665 (GRCm39) R47L probably damaging Het
Cgrrf1 T A 14: 47,091,331 (GRCm39) V285E probably damaging Het
Ctu1 T C 7: 43,326,042 (GRCm39) S234P probably damaging Het
Dnah3 G A 7: 119,628,205 (GRCm39) T1484I probably damaging Het
Dusp16 G T 6: 134,737,829 (GRCm39) Q70K probably damaging Het
Eri3 T G 4: 117,439,868 (GRCm39) Y187* probably null Het
Evi2a T A 11: 79,418,523 (GRCm39) Y29F possibly damaging Het
Ext2 A G 2: 93,592,999 (GRCm39) S402P possibly damaging Het
Fam76a T A 4: 132,645,055 (GRCm39) Q60L probably damaging Het
Fat3 T C 9: 16,287,381 (GRCm39) N714S probably damaging Het
Fbxw24 T A 9: 109,439,038 (GRCm39) N179I probably damaging Het
Fras1 A G 5: 96,929,251 (GRCm39) N3885S probably benign Het
Grip2 A T 6: 91,784,265 (GRCm39) V12E probably benign Het
Gse1 A T 8: 121,299,049 (GRCm39) Y766F unknown Het
Herc1 C T 9: 66,325,785 (GRCm39) Q1420* probably null Het
Htr1f T A 16: 64,746,831 (GRCm39) I154F probably damaging Het
Hus1b G T 13: 31,131,587 (GRCm39) A24E probably damaging Het
Igkv17-127 A G 6: 67,838,441 (GRCm39) I51V probably damaging Het
Ilk G T 7: 105,390,072 (GRCm39) R149L probably benign Het
Inpp5b T A 4: 124,636,340 (GRCm39) V5E possibly damaging Het
Jak2 A T 19: 29,265,367 (GRCm39) S465C possibly damaging Het
Kif23 T C 9: 61,834,722 (GRCm39) T394A probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lama4 A G 10: 38,921,802 (GRCm39) D441G probably null Het
Ldhd A G 8: 112,356,680 (GRCm39) L27P possibly damaging Het
Lingo1 A G 9: 56,527,512 (GRCm39) I365T probably benign Het
Lyz2 C A 10: 117,118,077 (GRCm39) C24F possibly damaging Het
Map1b T A 13: 99,570,616 (GRCm39) T702S unknown Het
Map4 T A 9: 109,863,760 (GRCm39) D328E probably benign Het
Matn1 C T 4: 130,673,278 (GRCm39) T82M probably damaging Het
Mfrp T C 9: 44,014,570 (GRCm39) V239A probably damaging Het
Misp G T 10: 79,661,675 (GRCm39) V31F probably benign Het
Muc5ac C T 7: 141,362,569 (GRCm39) T1960I unknown Het
Myh2 T A 11: 67,070,359 (GRCm39) M434K probably benign Het
Myh3 T A 11: 66,982,726 (GRCm39) I815N possibly damaging Het
Myo18a A G 11: 77,709,410 (GRCm39) M507V possibly damaging Het
Nbas T A 12: 13,371,654 (GRCm39) S385T probably benign Het
Nepro G A 16: 44,552,460 (GRCm39) R319K possibly damaging Het
Nlrc3 A T 16: 3,783,396 (GRCm39) C53S probably benign Het
Nudt17 A G 3: 96,614,224 (GRCm39) probably null Het
Nwd2 T G 5: 63,964,665 (GRCm39) C1416W probably damaging Het
Ocln A C 13: 100,676,356 (GRCm39) F46V possibly damaging Het
Or52n3 A T 7: 104,530,204 (GRCm39) N97Y possibly damaging Het
Or5be3 A T 2: 86,864,253 (GRCm39) V104D probably damaging Het
Osbpl5 T C 7: 143,263,526 (GRCm39) K119R probably benign Het
Paf1 T G 7: 28,096,331 (GRCm39) F315V possibly damaging Het
Parp4 T A 14: 56,866,673 (GRCm39) V1079D probably damaging Het
Pcgf6 C T 19: 47,039,219 (GRCm39) A14T unknown Het
Plcxd1 A G 5: 110,251,368 (GRCm39) T315A probably benign Het
Polm G A 11: 5,784,749 (GRCm39) T236I probably damaging Het
Prl7d1 T C 13: 27,898,360 (GRCm39) T50A possibly damaging Het
Reln T C 5: 22,120,105 (GRCm39) D2849G probably damaging Het
Sec16b C T 1: 157,394,894 (GRCm39) R1045C probably damaging Het
Six4 A G 12: 73,150,719 (GRCm39) S609P possibly damaging Het
Slc25a31 A T 3: 40,679,297 (GRCm39) probably null Het
Slc4a2 A G 5: 24,636,317 (GRCm39) N230S probably benign Het
Sorcs1 T C 19: 50,199,208 (GRCm39) Y785C probably damaging Het
Styxl1 A G 5: 135,784,259 (GRCm39) probably null Het
Synm C T 7: 67,383,181 (GRCm39) V1494M possibly damaging Het
Taf7l2 A T 10: 115,949,282 (GRCm39) D81E probably damaging Het
Tamm41 A G 6: 114,993,063 (GRCm39) M230T probably benign Het
Tbc1d12 T G 19: 38,884,490 (GRCm39) M347R probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tm4sf1 A C 3: 57,197,214 (GRCm39) S164A probably damaging Het
Trim67 A G 8: 125,552,956 (GRCm39) H686R probably damaging Het
Trpm1 T C 7: 63,873,446 (GRCm39) L567P probably benign Het
Tsfm A G 10: 126,858,771 (GRCm39) L198P probably damaging Het
Ttc6 A T 12: 57,733,193 (GRCm39) D1112V probably damaging Het
Ttn A G 2: 76,601,922 (GRCm39) V18580A probably benign Het
Ubr1 C A 2: 120,734,506 (GRCm39) Q1131H possibly damaging Het
Uhrf2 C T 19: 30,016,659 (GRCm39) R117C probably benign Het
Vmn2r70 A G 7: 85,215,240 (GRCm39) V98A probably benign Het
Zfp799 T C 17: 33,039,186 (GRCm39) E360G 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
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
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'- TTCAGAACAAGCAGAGCCATG -3'
(R):5'- GGCTCAGAAATGCAGACTTCC -3'

Sequencing Primer
(F):5'- CAGAGCCATGTTAGGTAGAGTC -3'
(R):5'- GAAATGCAGACTTCCTAAGGGTTTGC -3'
Posted On 2022-05-16