Incidental Mutation 'R9498:Plxnc1'
ID 717378
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 # R9498 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 94649004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 1258 (Q1258H)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect possibly damaging
Transcript: ENSMUST00000099337
AA Change: Q1258H

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: Q1258H

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: 99.7%
  • 20x: 98.9%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Aadacl3 A G 4: 144,182,989 (GRCm39) Y160H probably damaging Het
Abca17 T C 17: 24,484,480 (GRCm39) Y1594C probably damaging Het
Abca8a T C 11: 109,977,374 (GRCm39) I128M probably damaging Het
Abhd12b A G 12: 70,210,237 (GRCm39) I138V probably benign Het
Adcy8 G A 15: 64,792,045 (GRCm39) L304F possibly damaging Het
Alb T C 5: 90,617,362 (GRCm39) F354L probably damaging Het
Ampd3 T A 7: 110,409,053 (GRCm39) S688R probably damaging Het
Aoc1l3 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,964,952 (GRCm39) probably benign Het
Areg T G 5: 91,294,553 (GRCm39) L237R probably damaging Het
Arhgef11 A G 3: 87,640,484 (GRCm39) S1243G probably benign Het
B3glct A G 5: 149,673,894 (GRCm39) probably null Het
Casp7 T A 19: 56,424,767 (GRCm39) L162Q probably damaging Het
Cdh20 A G 1: 109,976,635 (GRCm39) N100S probably benign Het
Cdh22 G T 2: 164,954,490 (GRCm39) T677N probably damaging Het
Cmtm5 T A 14: 55,174,205 (GRCm39) S31T probably benign Het
Col6a3 T A 1: 90,713,650 (GRCm39) R2295* probably null Het
Cpa6 T C 1: 10,479,546 (GRCm39) N229S possibly damaging Het
Dagla G T 19: 10,232,218 (GRCm39) Y489* probably null Het
Dnah7b A G 1: 46,253,564 (GRCm39) K1823R probably benign Het
Dnah9 T C 11: 65,739,199 (GRCm39) N4180D probably damaging Het
Dsg3 A C 18: 20,658,278 (GRCm39) E296D probably damaging Het
Ednra A T 8: 78,446,934 (GRCm39) L48Q probably benign Het
Esco2 T C 14: 66,068,752 (GRCm39) D186G probably benign Het
Foxj2 A G 6: 122,819,792 (GRCm39) D560G probably damaging Het
Frmd3 G A 4: 74,038,055 (GRCm39) M105I probably benign Het
Gria4 A T 9: 4,503,560 (GRCm39) probably null Het
Hrob T C 11: 102,150,167 (GRCm39) S410P probably benign Het
Ifi204 T C 1: 173,583,537 (GRCm39) E227G possibly damaging Het
Lgalsl T A 11: 20,779,439 (GRCm39) I69F possibly damaging Het
Myo15b A G 11: 115,770,784 (GRCm39) T1588A Het
Myo9a A G 9: 59,734,466 (GRCm39) S683G probably damaging Het
Ncam2 T C 16: 81,309,887 (GRCm39) I459T probably benign Het
Nedd4l T C 18: 65,294,723 (GRCm39) probably null Het
Nfic T C 10: 81,256,502 (GRCm39) E54G probably damaging Het
Nrxn1 T C 17: 90,897,397 (GRCm39) T920A probably damaging Het
Obsl1 C T 1: 75,467,484 (GRCm39) C1430Y probably damaging Het
Or8k17 A G 2: 86,066,838 (GRCm39) F107L probably damaging Het
Pcbp2 G A 15: 102,406,941 (GRCm39) G357D probably benign Het
Pcdhb1 A G 18: 37,398,516 (GRCm39) S156G probably damaging Het
Pcdhb15 A T 18: 37,606,890 (GRCm39) R41* probably null Het
Pde1b A T 15: 103,435,489 (GRCm39) D448V probably benign Het
Pex7 G A 10: 19,762,859 (GRCm39) R227* probably null Het
Pkp1 T A 1: 135,817,820 (GRCm39) Y105F probably benign Het
Plbd1 T C 6: 136,589,244 (GRCm39) T529A possibly damaging Het
Prr36 T A 8: 4,263,291 (GRCm39) T792S unknown Het
Rasgrf1 A T 9: 89,826,921 (GRCm39) T177S probably benign Het
Rbm14 A G 19: 4,853,495 (GRCm39) S296P probably benign Het
Rfx8 T C 1: 39,724,674 (GRCm39) Y229C probably damaging Het
Rgs3 A T 4: 62,575,412 (GRCm39) S600C probably damaging Het
Slc29a4 T A 5: 142,704,233 (GRCm39) S296T probably benign Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Srsf6 A G 2: 162,774,009 (GRCm39) E68G probably benign Het
Syt13 A T 2: 92,781,749 (GRCm39) N317Y possibly damaging Het
Tars2 A T 3: 95,647,553 (GRCm39) L701Q probably damaging Het
Tbc1d16 A T 11: 119,048,681 (GRCm39) V324E probably damaging Het
Tbc1d21 A G 9: 58,273,924 (GRCm39) L84P probably damaging Het
Trappc6b A G 12: 59,097,127 (GRCm39) M65T possibly damaging Het
Tubb1 A G 2: 174,299,403 (GRCm39) N362D probably benign Het
Tubgcp5 C T 7: 55,463,233 (GRCm39) T475M possibly damaging Het
Ugt2b37 T C 5: 87,402,244 (GRCm39) K129R probably benign Het
Vmn2r55 A G 7: 12,404,812 (GRCm39) V197A probably damaging Het
Wfdc3 G A 2: 164,584,997 (GRCm39) L4F possibly damaging Het
Zfp141 T A 7: 42,125,770 (GRCm39) Q234L probably benign Het
Zfp850 T C 7: 27,689,275 (GRCm39) K311R possibly 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
R9430:Plxnc1 UTSW 10 94,758,544 (GRCm39) missense probably benign 0.01
R9460:Plxnc1 UTSW 10 94,700,895 (GRCm39) missense probably benign
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'- CCCTGGGTCACAATCACATTG -3'
(R):5'- CCGTTTGTATTCTTGCAGGC -3'

Sequencing Primer
(F):5'- CCTGGGTCACAATCACATTGATTTG -3'
(R):5'- CTTGCAGGCATTAAATGTCGTC -3'
Posted On 2022-07-18