Incidental Mutation 'R5485:Plxnc1'
ID 432527
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission 043046-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R5485 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 94758604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 364 (Q364P)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably benign
Transcript: ENSMUST00000099337
AA Change: Q364P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: Q364P

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: ENSMUST00000180573
Meta Mutation Damage Score 0.0990 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.6%
Validation Efficiency 98% (59/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,378 (GRCm39) V85D probably benign Het
Abcb8 A G 5: 24,605,159 (GRCm39) N115S probably benign Het
Appl1 C A 14: 26,684,823 (GRCm39) L75F probably damaging Het
Atp13a5 A G 16: 29,100,760 (GRCm39) probably null Het
Atp2c2 T A 8: 120,479,801 (GRCm39) probably null Het
Cfap54 T A 10: 92,864,979 (GRCm39) I94F probably damaging Het
Clasp1 A G 1: 118,395,643 (GRCm39) I194V possibly damaging Het
Crebbp A C 16: 3,932,777 (GRCm39) D1000E probably benign Het
Ctdnep1 C T 11: 69,872,316 (GRCm39) R3W possibly damaging Het
Dgkb T C 12: 38,177,363 (GRCm39) V230A probably damaging Het
Duoxa2 T C 2: 122,129,633 (GRCm39) F38L possibly damaging Het
Ecd T C 14: 20,388,273 (GRCm39) S172G probably benign Het
Endog G T 2: 30,061,663 (GRCm39) probably benign Het
Eqtn G A 4: 94,813,193 (GRCm39) P131L possibly damaging Het
Gabbr1 T A 17: 37,367,767 (GRCm39) S290T possibly damaging Het
Glt8d2 T A 10: 82,487,282 (GRCm39) R319S possibly damaging Het
Gm16686 A G 4: 88,673,641 (GRCm39) probably benign Het
Gm5709 A T 3: 59,542,983 (GRCm39) noncoding transcript Het
Gm7381 T C 8: 3,892,161 (GRCm39) noncoding transcript Het
Gorab T G 1: 163,213,871 (GRCm39) D353A possibly damaging Het
Gstm1 A G 3: 107,924,720 (GRCm39) L20P probably damaging Het
Hexim2 A G 11: 103,029,884 (GRCm39) D312G probably benign Het
Hfm1 A G 5: 106,995,528 (GRCm39) probably null Het
Mbd4 C A 6: 115,827,679 (GRCm39) A66S probably benign Het
Mmp27 T A 9: 7,573,363 (GRCm39) W152R probably damaging Het
Mogat1 A G 1: 78,500,307 (GRCm39) T124A probably benign Het
Mrps18b A T 17: 36,225,236 (GRCm39) V102D probably damaging Het
Or10g3b A T 14: 52,586,776 (GRCm39) C242* probably null Het
Peg10 T A 6: 4,755,565 (GRCm39) M47K probably benign Het
Psd A T 19: 46,304,528 (GRCm39) probably null Het
Rims1 T G 1: 22,522,289 (GRCm39) I470L possibly damaging Het
Sbsn T C 7: 30,452,542 (GRCm39) V519A possibly damaging Het
Senp1 A G 15: 97,964,377 (GRCm39) V279A probably benign Het
Sfxn5 T A 6: 85,309,582 (GRCm39) probably benign Het
Slc6a13 T A 6: 121,313,032 (GRCm39) M483K probably damaging Het
Slc6a21 G A 7: 44,931,966 (GRCm39) probably null Het
Slco6c1 T C 1: 97,053,481 (GRCm39) Y140C probably damaging Het
Spata32 A G 11: 103,100,122 (GRCm39) S128P probably damaging Het
Spty2d1 G T 7: 46,647,633 (GRCm39) T432K possibly damaging Het
Stx8 A G 11: 67,911,792 (GRCm39) Q170R probably benign Het
Sytl3 G A 17: 6,982,879 (GRCm39) V112I probably benign Het
Tdrkh A G 3: 94,336,019 (GRCm39) I420V probably benign Het
Tmem117 T C 15: 94,992,711 (GRCm39) V457A probably benign Het
Tpk1 T C 6: 43,642,746 (GRCm39) probably benign Het
Trpc2 GTGTCCTA GTGTCCTATGTCCTA 7: 101,744,420 (GRCm39) probably null Het
Tsen54 A G 11: 115,706,048 (GRCm39) E90G probably benign Het
Ugt1a2 A T 1: 88,128,968 (GRCm39) M204L probably damaging Het
Vmn2r17 A T 5: 109,567,972 (GRCm39) I32F probably benign Het
Xkr6 T C 14: 64,056,833 (GRCm39) V248A unknown Het
Zfhx4 C A 3: 5,308,067 (GRCm39) S431Y probably damaging Het
Zfp318 T A 17: 46,723,180 (GRCm39) S1728T possibly damaging Het
Zfp563 T C 17: 33,308,540 (GRCm39) 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
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'- CAGAGCCATGTTAGGTAGAGTC -3'
(R):5'- TGTCCCTAAGGATCCCGTTG -3'

Sequencing Primer
(F):5'- TTTACAATAGGTAGGCAGGTACTAAG -3'
(R):5'- TCCCTAAGGATCCCGTTGAAGAG -3'
Posted On 2016-10-05