Incidental Mutation 'R4679:Plxnc1'
ID 349937
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission 041932-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R4679 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94630306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1531 (Y1531F)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020212] [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably benign
Transcript: ENSMUST00000020212
SMART Domains Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024

DomainStartEndE-ValueType
coiled coil region 31 100 N/A INTRINSIC
coiled coil region 121 602 N/A INTRINSIC
coiled coil region 656 689 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099337
AA Change: Y1531F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: Y1531F

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: ENSMUST00000218076
Meta Mutation Damage Score 0.5010 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (112/114)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 T A 1: 130,670,140 (GRCm39) S121T possibly damaging Het
Abcb9 A G 5: 124,216,867 (GRCm39) V450A probably benign Het
Abcg1 A T 17: 31,333,235 (GRCm39) R659S probably benign Het
Acad9 A T 3: 36,142,989 (GRCm39) N508I possibly damaging Het
Acrbp T A 6: 125,037,881 (GRCm39) C393S probably damaging Het
Adcy7 T C 8: 89,044,565 (GRCm39) V486A probably benign Het
Adgrf1 G T 17: 43,621,384 (GRCm39) L540F probably damaging Het
Ap5m1 T C 14: 49,316,285 (GRCm39) I285T probably benign Het
Arhgap27 G T 11: 103,251,775 (GRCm39) probably benign Het
Armc5 A T 7: 127,839,276 (GRCm39) E198V possibly damaging Het
Atp8b5 A T 4: 43,365,955 (GRCm39) K742M probably benign Het
Atp9a T G 2: 168,503,884 (GRCm39) T603P possibly damaging Het
Bsn A G 9: 107,987,329 (GRCm39) S2808P unknown Het
C9orf72 C T 4: 35,226,033 (GRCm39) probably benign Het
Catsper4 T C 4: 133,953,916 (GRCm39) N81S probably damaging Het
Ccl17 C G 8: 95,537,128 (GRCm39) T10S probably benign Het
Cdc123 A T 2: 5,849,703 (GRCm39) V6D probably damaging Het
Cdca2 T C 14: 67,952,415 (GRCm39) K14E possibly damaging Het
Cdh3 C A 8: 107,266,488 (GRCm39) T302K probably damaging Het
Cdh9 A G 15: 16,851,045 (GRCm39) M605V probably benign Het
Cdk4 A G 10: 126,900,780 (GRCm39) E144G possibly damaging Het
Clasp1 C T 1: 118,471,001 (GRCm39) A879V probably damaging Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Cntn5 T C 9: 9,970,536 (GRCm39) D518G probably benign Het
Cog1 C T 11: 113,543,116 (GRCm39) A208V probably damaging Het
Col4a2 T A 8: 11,481,337 (GRCm39) H836Q possibly damaging Het
Copb1 T C 7: 113,848,211 (GRCm39) D108G probably damaging Het
Csmd3 A T 15: 48,024,479 (GRCm39) Y600* probably null Het
Cyb5r1 T A 1: 134,335,571 (GRCm39) H164Q probably benign Het
Dkc1 A G X: 74,144,598 (GRCm39) I215V probably benign Het
Enpep A G 3: 129,097,362 (GRCm39) probably null Het
Fam110d A G 4: 133,978,747 (GRCm39) S244P probably damaging Het
Fbln7 A G 2: 128,736,806 (GRCm39) Y311C probably damaging Het
Fign A C 2: 63,809,605 (GRCm39) L555R probably damaging Het
Fkbp7 A T 2: 76,502,032 (GRCm39) probably benign Het
Fmn2 T C 1: 174,330,728 (GRCm39) S373P unknown Het
Frmd4b C T 6: 97,272,627 (GRCm39) D868N possibly damaging Het
Garin3 T A 11: 46,295,640 (GRCm39) M4K possibly damaging Het
Gfpt2 A G 11: 49,714,564 (GRCm39) N321S probably benign Het
Glmn G T 5: 107,708,941 (GRCm39) T372K probably damaging Het
Gm26602 C T 10: 79,746,808 (GRCm39) probably benign Het
Gm6797 A G X: 8,505,933 (GRCm39) noncoding transcript Het
Gpat3 T A 5: 101,041,322 (GRCm39) F383L probably damaging Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Hcn1 C T 13: 117,793,551 (GRCm39) H268Y probably benign Het
Hectd4 G T 5: 121,463,314 (GRCm39) C2345F possibly damaging Het
Htt A G 5: 34,977,424 (GRCm39) D770G probably benign Het
Ints3 T C 3: 90,315,817 (GRCm39) T316A possibly damaging Het
Ipo9 A G 1: 135,321,907 (GRCm39) F608L probably benign Het
Irak1 A C X: 73,065,995 (GRCm39) probably benign Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Lag3 T A 6: 124,881,508 (GRCm39) Q488L possibly damaging Het
Large2 A T 2: 92,197,903 (GRCm39) L266Q probably benign Het
Lrp3 T G 7: 34,903,365 (GRCm39) D327A probably damaging Het
Mamstr C A 7: 45,294,116 (GRCm39) probably benign Het
Mettl14 G A 3: 123,163,063 (GRCm39) probably benign Het
Miga1 A G 3: 152,028,112 (GRCm39) V139A probably damaging Het
Mthfd2l A C 5: 91,096,770 (GRCm39) R130S probably benign Het
Myo1b A G 1: 51,797,132 (GRCm39) I970T possibly damaging Het
Nat10 C A 2: 103,562,515 (GRCm39) W607L probably damaging Het
Nop56 A G 2: 130,120,193 (GRCm39) T183A probably benign Het
Or10h1 A G 17: 33,418,367 (GRCm39) H115R probably benign Het
Or2d4 A T 7: 106,544,152 (GRCm39) S19T probably benign Het
Or4c10 A G 2: 89,761,008 (GRCm39) Y285C possibly damaging Het
Or4d1 T A 11: 87,805,136 (GRCm39) M199L probably benign Het
Or52j3 A G 7: 102,836,309 (GRCm39) Y167C probably benign Het
Or5ae2 T A 7: 84,506,112 (GRCm39) Y178* probably null Het
Pcdhb12 T C 18: 37,570,002 (GRCm39) F383L probably damaging Het
Pde4dip C A 3: 97,602,321 (GRCm39) D2252Y probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plscr2 T G 9: 92,169,823 (GRCm39) L91R probably benign Het
Ptprq A T 10: 107,521,043 (GRCm39) F710I probably benign Het
Rad51ap2 A G 12: 11,506,552 (GRCm39) E158G probably damaging Het
Rasip1 T A 7: 45,277,247 (GRCm39) H18Q possibly damaging Het
Rcsd1 T A 1: 165,483,493 (GRCm39) N166I probably damaging Het
Ripor1 T A 8: 106,344,417 (GRCm39) I517K possibly damaging Het
Ryr2 T A 13: 11,839,255 (GRCm39) H506L probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin14 T C 5: 129,770,090 (GRCm39) D202G possibly damaging Het
Siglec1 A T 2: 130,915,331 (GRCm39) L1420Q possibly damaging Het
Slc22a29 T A 19: 8,138,948 (GRCm39) I505F possibly damaging Het
Sorcs1 T A 19: 50,171,107 (GRCm39) Y927F probably benign Het
Spats2 T G 15: 99,078,603 (GRCm39) M191R possibly damaging Het
Sycp1 C T 3: 102,829,778 (GRCm39) probably null Het
T2 A G 17: 8,609,848 (GRCm39) E99G possibly damaging Het
Taf3 G A 2: 10,053,375 (GRCm39) probably benign Het
Tnfsf10 A T 3: 27,389,728 (GRCm39) N263I probably damaging Het
Treml2 A T 17: 48,615,203 (GRCm39) R229S probably benign Het
Trmt13 T C 3: 116,383,404 (GRCm39) K125E probably damaging Het
Ttc9 G T 12: 81,678,375 (GRCm39) C66F probably damaging Het
Vmn2r63 C T 7: 42,577,544 (GRCm39) M331I probably benign Het
Zfp353-ps T C 8: 42,535,251 (GRCm39) noncoding transcript Het
Zfp932 A T 5: 110,157,760 (GRCm39) H486L 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
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'- ATTCAGGCTGGTCCAAAGGTG -3'
(R):5'- AGGGATTTGCCTCCATTGTC -3'

Sequencing Primer
(F):5'- GGGCAGCATGACCGACTAC -3'
(R):5'- GAGTCTCTCAACAAGCCTT -3'
Posted On 2015-10-08