Incidental Mutation 'R6052:Plxnc1'
ID 484171
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission 044220-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R6052 (G1)
Quality Score 88.0076
Status Validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94779635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 269 (Q269L)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably benign
Transcript: ENSMUST00000099337
AA Change: Q269L

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: Q269L

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: ENSMUST00000158521
Meta Mutation Damage Score 0.0667 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 96% (80/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,537,165 (GRCm39) F473L probably benign Het
Ankrd17 T C 5: 90,401,691 (GRCm39) I1449V probably benign Het
Aox4 T A 1: 58,293,477 (GRCm39) L943* probably null Het
Arap1 G A 7: 101,053,240 (GRCm39) V1257M probably damaging Het
B3gnt9 T C 8: 105,981,230 (GRCm39) S53G probably benign Het
Baiap3 A T 17: 25,467,444 (GRCm39) probably benign Het
Canx T C 11: 50,187,946 (GRCm39) D554G possibly damaging Het
Cbfa2t2 T C 2: 154,352,501 (GRCm39) V165A probably damaging Het
Ccdc17 C T 4: 116,457,145 (GRCm39) probably null Het
Cdcp1 A G 9: 123,014,396 (GRCm39) I126T probably benign Het
Cdk13 A T 13: 17,895,800 (GRCm39) D1036E probably damaging Het
Cfap157 A G 2: 32,669,863 (GRCm39) L240P probably damaging Het
Clec18a C A 8: 111,805,448 (GRCm39) E218* probably null Het
Col3a1 T C 1: 45,384,173 (GRCm39) probably benign Het
Dennd4a A G 9: 64,794,227 (GRCm39) E682G probably damaging Het
Dnah14 T C 1: 181,494,052 (GRCm39) V1736A possibly damaging Het
Dpep2 T A 8: 106,717,270 (GRCm39) D162V possibly damaging Het
Drd3 C A 16: 43,641,646 (GRCm39) P321T probably benign Het
Egfr A G 11: 16,861,554 (GRCm39) H1111R probably benign Het
Entpd1 T C 19: 40,708,928 (GRCm39) S58P probably damaging Het
Epha3 C A 16: 63,423,967 (GRCm39) V541L possibly damaging Het
Eri3 T A 4: 117,421,825 (GRCm39) D34E probably damaging Het
Eya1 T C 1: 14,353,374 (GRCm39) D58G probably damaging Het
Fat3 T A 9: 15,833,975 (GRCm39) S26C probably null Het
Fgl1 T C 8: 41,653,548 (GRCm39) D115G probably damaging Het
Fitm2 T C 2: 163,312,036 (GRCm39) Y59C probably damaging Het
Fras1 T A 5: 96,912,725 (GRCm39) I3343N probably damaging Het
Gba2 C A 4: 43,568,330 (GRCm39) C679F probably damaging Het
Glis2 G A 16: 4,431,603 (GRCm39) probably benign Het
Gm5150 T A 3: 16,044,917 (GRCm39) I103F probably damaging Het
Hhipl2 T C 1: 183,204,965 (GRCm39) S313P possibly damaging Het
Hmgcs1 A G 13: 120,166,995 (GRCm39) D474G probably benign Het
Homer3 C T 8: 70,744,076 (GRCm39) Q267* probably null Het
Hsd17b8 A G 17: 34,246,429 (GRCm39) L118P probably damaging Het
Igkv8-28 C T 6: 70,120,673 (GRCm39) G90D probably damaging Het
Kalrn T A 16: 34,181,255 (GRCm39) I128F probably damaging Het
Krt4 A G 15: 101,831,194 (GRCm39) probably null Het
Lamb2 T A 9: 108,364,811 (GRCm39) C1188* probably null Het
Lsr A T 7: 30,658,042 (GRCm39) M355K probably damaging Het
Map3k11 T G 19: 5,747,430 (GRCm39) D555E probably benign Het
Myocd A G 11: 65,087,082 (GRCm39) Y282H probably damaging Het
Nae1 T C 8: 105,261,176 (GRCm39) I7M probably benign Het
Nprl3 G T 11: 32,205,453 (GRCm39) H102N possibly damaging Het
Nup62 T A 7: 44,478,464 (GRCm39) F160I possibly damaging Het
Or10w1 C A 19: 13,631,871 (GRCm39) P26Q possibly damaging Het
Or2d3c A T 7: 106,525,896 (GRCm39) F257I probably benign Het
Or2r2 T A 6: 42,463,588 (GRCm39) T180S possibly damaging Het
Or5p76 A G 7: 108,122,945 (GRCm39) S71P probably benign Het
Or6c35 C A 10: 129,169,071 (GRCm39) T107K possibly damaging Het
Osbpl10 T C 9: 114,896,383 (GRCm39) probably null Het
Pcdh9 C T 14: 94,123,282 (GRCm39) V963I probably benign Het
Phf12 A G 11: 77,909,044 (GRCm39) R375G probably benign Het
Piezo1 G A 8: 123,233,008 (GRCm39) T108M probably damaging Het
Pomgnt1 T A 4: 116,008,799 (GRCm39) N11K possibly damaging Het
Pramel22 T A 4: 143,382,222 (GRCm39) D158V probably damaging Het
Prkd1 A T 12: 50,413,083 (GRCm39) probably null Het
Prpf40a T C 2: 53,049,293 (GRCm39) T190A probably benign Het
Prrc2b A C 2: 32,102,297 (GRCm39) H790P possibly damaging Het
Rest T G 5: 77,429,027 (GRCm39) V482G probably benign Het
Ros1 T A 10: 52,039,999 (GRCm39) I322L probably benign Het
Rpl18 G A 7: 45,369,554 (GRCm39) probably benign Het
Rsad2 G A 12: 26,500,577 (GRCm39) H237Y probably benign Het
Sbf2 A G 7: 110,040,741 (GRCm39) L362S probably damaging Het
Sgsm3 A G 15: 80,893,464 (GRCm39) T409A probably benign Het
Slc16a14 T C 1: 84,890,430 (GRCm39) T292A possibly damaging Het
Spg11 T G 2: 121,927,837 (GRCm39) K649T probably damaging Het
Srprb T A 9: 103,067,415 (GRCm39) I268F possibly damaging Het
Tap2 G A 17: 34,433,683 (GRCm39) G566S probably damaging Het
Tecpr2 T C 12: 110,885,325 (GRCm39) V168A possibly damaging Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Tmem181a T A 17: 6,330,890 (GRCm39) L50H probably damaging Het
Tshz1 A G 18: 84,032,194 (GRCm39) I738T probably damaging Het
Tspan12 T C 6: 21,772,637 (GRCm39) E304G probably benign Het
Urb1 C T 16: 90,559,271 (GRCm39) G1671S probably damaging Het
Vmn2r2 T C 3: 64,024,782 (GRCm39) S600G possibly damaging Het
Wnt3 C A 11: 103,699,000 (GRCm39) Y35* probably null Het
Xpo7 T C 14: 70,921,159 (GRCm39) Y603C possibly damaging Het
Zfp457 G A 13: 67,442,015 (GRCm39) H91Y probably damaging Het
Zfp664 T A 5: 124,963,250 (GRCm39) C215S unknown Het
Zfp882 G A 8: 72,668,349 (GRCm39) G392D 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
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
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'- TGGATCTCACTCATCCTGAAGAG -3'
(R):5'- GCTATCGCGCTCAAGAACAC -3'

Sequencing Primer
(F):5'- TCACTCATCCTGAAGAGGCAGAG -3'
(R):5'- CGCTCAAGAACACGGAGG -3'
Posted On 2017-07-14