Incidental Mutation 'R8882:Plxnc1'
ID 676992
Institutional Source Beutler Lab
Gene Symbol Plxnc1
Ensembl Gene ENSMUSG00000074785
Gene Name plexin C1
Synonyms 2510048K12Rik, vespr, CD232
MMRRC Submission 068750-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R8882 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 94626728-94780697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94677428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 933 (V933A)
Ref Sequence ENSEMBL: ENSMUSP00000096939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099337]
AlphaFold Q9QZC2
Predicted Effect probably damaging
Transcript: ENSMUST00000099337
AA Change: V933A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: V933A

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (55/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 A T 13: 111,392,033 (GRCm39) I123L probably benign Het
Adam18 T C 8: 25,136,438 (GRCm39) D361G probably benign Het
Adcyap1r1 G A 6: 55,468,219 (GRCm39) V352M possibly damaging Het
Ahnak T C 19: 8,978,106 (GRCm39) L75P probably damaging Het
Arhgap23 T C 11: 97,355,949 (GRCm39) S856P probably benign Het
Asprv1 G T 6: 86,605,349 (GRCm39) C65F probably benign Het
Atp2b4 A T 1: 133,654,193 (GRCm39) probably null Het
Cd55 A G 1: 130,387,501 (GRCm39) V99A probably benign Het
Cit G A 5: 116,001,089 (GRCm39) A163T probably benign Het
Dnah6 A T 6: 73,155,481 (GRCm39) D711E probably benign Het
Dnajc15 A T 14: 78,094,411 (GRCm39) V41E probably damaging Het
Dock2 GCACACACACA GCACACACACACA 11: 34,595,436 (GRCm39) 453 probably null Het
Dst T C 1: 34,240,005 (GRCm39) S1785P probably damaging Het
Efhb A G 17: 53,769,712 (GRCm39) V199A probably damaging Het
Esyt3 C T 9: 99,202,909 (GRCm39) G498D probably damaging Het
Fbxo11 A G 17: 88,304,957 (GRCm39) I562T Het
Fh1 C T 1: 175,437,353 (GRCm39) V249I possibly damaging Het
Gdpgp1 T C 7: 79,888,704 (GRCm39) I245T possibly damaging Het
Hinfp A G 9: 44,209,629 (GRCm39) probably null Het
Hip1r A G 5: 124,140,025 (GRCm39) K1043E probably damaging Het
Htt G A 5: 34,979,061 (GRCm39) V815I probably benign Het
Jrk A G 15: 74,579,004 (GRCm39) Y94H probably damaging Het
Krit1 T A 5: 3,886,864 (GRCm39) N704K possibly damaging Het
Mmp17 A G 5: 129,679,008 (GRCm39) D331G probably benign Het
Nlrp9a T A 7: 26,257,703 (GRCm39) Y440* probably null Het
Nphp3 A G 9: 103,882,793 (GRCm39) T216A possibly damaging Het
Or1e1f T G 11: 73,855,940 (GRCm39) C169G probably damaging Het
Or4a79 G T 2: 89,551,740 (GRCm39) C238* probably null Het
Or5ae2 T C 7: 84,505,681 (GRCm39) Y37H probably damaging Het
Or7e176 T C 9: 20,171,256 (GRCm39) F40S probably benign Het
Or8c15 T A 9: 38,120,461 (GRCm39) Y35* probably null Het
Parva T C 7: 112,027,211 (GRCm39) S14P probably benign Het
Pax6 A C 2: 105,521,963 (GRCm39) N207H possibly damaging Het
Pde6a A G 18: 61,378,619 (GRCm39) N314S Het
Phlpp1 T A 1: 106,320,372 (GRCm39) S1456T probably benign Het
Rasgef1b A G 5: 99,524,860 (GRCm39) S100P probably benign Het
Rpn2 A G 2: 157,136,102 (GRCm39) H170R probably benign Het
Sbds A G 5: 130,282,778 (GRCm39) probably null Het
Scube2 G C 7: 109,451,680 (GRCm39) L158V probably damaging Het
Slc16a12 C A 19: 34,649,854 (GRCm39) V394L probably benign Het
Slc23a2 A T 2: 131,933,159 (GRCm39) Y100N possibly damaging Het
Slc30a9 G T 5: 67,473,044 (GRCm39) E43* probably null Het
Specc1l A T 10: 75,065,689 (GRCm39) M1L unknown Het
Sspo T A 6: 48,452,390 (GRCm39) C2785S probably damaging Het
Star T C 8: 26,302,897 (GRCm39) S280P probably benign Het
Strip1 A T 3: 107,534,341 (GRCm39) M127K probably benign Het
Tbx19 C T 1: 164,966,780 (GRCm39) V365M probably benign Het
Tex2 T C 11: 106,435,062 (GRCm39) D788G unknown Het
Tspyl1 A G 10: 34,158,494 (GRCm39) E73G possibly damaging Het
Ulk2 C T 11: 61,698,887 (GRCm39) probably null Het
Vmn2r120 A T 17: 57,852,229 (GRCm39) M29K probably benign Het
Vmn2r60 C A 7: 41,790,518 (GRCm39) Q502K probably benign Het
Xpo5 A G 17: 46,538,666 (GRCm39) D624G possibly damaging Het
Zfp119b T C 17: 56,246,923 (GRCm39) R88G possibly damaging Het
Zfp879 C A 11: 50,724,763 (GRCm39) E98* probably null 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
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'- TTCCCAAAAGCTGAAGGTCTAC -3'
(R):5'- ACCTGTAGAGAACGGCTAGG -3'

Sequencing Primer
(F):5'- TCTACCTGCCCACGGAGAAG -3'
(R):5'- CACCGCTGCACTAGTAAGGTTC -3'
Posted On 2021-07-15