Incidental Mutation 'R6310:Plxnd1'
ID 509536
Institutional Source Beutler Lab
Gene Symbol Plxnd1
Ensembl Gene ENSMUSG00000030123
Gene Name plexin D1
Synonyms 6230425C21Rik, b2b1863Clo, b2b553Clo
MMRRC Submission 044414-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6310 (G1)
Quality Score 189.009
Status Not validated
Chromosome 6
Chromosomal Location 115931772-115971966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115953697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 623 (L623F)
Ref Sequence ENSEMBL: ENSMUSP00000015511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511]
AlphaFold Q3UH93
Predicted Effect possibly damaging
Transcript: ENSMUST00000015511
AA Change: L623F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: L623F

DomainStartEndE-ValueType
signal peptide 1 48 N/A INTRINSIC
Sema 61 531 6.52e-90 SMART
PSI 550 603 6.06e-12 SMART
PSI 703 755 1.06e-2 SMART
Blast:PSI 850 891 9e-20 BLAST
IPT 892 981 4.43e-20 SMART
IPT 982 1068 6.61e-19 SMART
IPT 1070 1149 6.13e-14 SMART
transmembrane domain 1271 1293 N/A INTRINSIC
Pfam:Plexin_cytopl 1345 1888 5e-238 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display neonatal lethality, thin-walled atria, and vascular abnormalities including abnormal branchial arch artery development, cardiac outflow tract abnormalities, and reduced vascular smooth muscle around some vessels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C G 11: 100,373,046 (GRCm39) G856A possibly damaging Het
Adgrb3 T A 1: 25,150,799 (GRCm39) M1145L probably benign Het
Akap13 A T 7: 75,398,941 (GRCm39) H2673L probably damaging Het
Bmpr1b A G 3: 141,570,297 (GRCm39) S131P probably damaging Het
Cep72 A C 13: 74,201,144 (GRCm39) S175A possibly damaging Het
Chd2 C T 7: 73,102,912 (GRCm39) E1358K probably damaging Het
Cmip T C 8: 118,156,549 (GRCm39) I308T possibly damaging Het
Cps1 A T 1: 67,182,140 (GRCm39) N118I probably benign Het
Cux1 C T 5: 136,304,018 (GRCm39) G1265D probably benign Het
Ddx24 C A 12: 103,390,166 (GRCm39) R275L probably damaging Het
Dhx58 T C 11: 100,590,193 (GRCm39) S364G probably benign Het
Dis3l A C 9: 64,229,857 (GRCm39) V274G probably benign Het
Fryl A T 5: 73,349,104 (GRCm39) probably benign Het
Gbf1 A G 19: 46,268,444 (GRCm39) H1272R probably damaging Het
Gjb3 A G 4: 127,220,433 (GRCm39) V33A probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm9964 T C 11: 79,187,476 (GRCm39) probably benign Het
Grk5 T C 19: 61,069,349 (GRCm39) I342T probably damaging Het
Hnf1b T A 11: 83,795,737 (GRCm39) C527S probably damaging Het
Hoxd4 G T 2: 74,558,734 (GRCm39) A186S possibly damaging Het
Ighv1-78 G A 12: 115,832,584 (GRCm39) H54Y probably benign Het
Intu T A 3: 40,655,721 (GRCm39) L936* probably null Het
Kcp G A 6: 29,493,257 (GRCm39) R89W probably damaging Het
Kctd3 T C 1: 188,704,435 (GRCm39) T779A probably benign Het
Muc16 G A 9: 18,553,246 (GRCm39) P4349L probably benign Het
Nedd9 T C 13: 41,471,928 (GRCm39) T178A probably benign Het
Nuak2 G T 1: 132,257,699 (GRCm39) A204S probably damaging Het
Or51f1 T A 7: 102,506,412 (GRCm39) I26F probably benign Het
Or6c214 T C 10: 129,590,528 (GRCm39) R264G probably benign Het
Pcdhac2 C A 18: 37,278,824 (GRCm39) Y601* probably null Het
Pla2g4a T A 1: 149,717,977 (GRCm39) D624V possibly damaging Het
Plxnb1 T C 9: 108,938,796 (GRCm39) V1386A probably damaging Het
Pms2 T A 5: 143,860,401 (GRCm39) S71R probably benign Het
Prkg1 T C 19: 30,546,651 (GRCm39) D683G probably damaging Het
Rasgrp3 T A 17: 75,801,204 (GRCm39) Y45N probably damaging Het
Rfc4 T C 16: 22,933,459 (GRCm39) I233M probably benign Het
Sema3a G A 5: 13,606,986 (GRCm39) G274S probably damaging Het
Sesn1 T C 10: 41,772,074 (GRCm39) L201P probably damaging Het
Setx G A 2: 29,066,947 (GRCm39) V2363I possibly damaging Het
Sh3glb1 A G 3: 144,403,228 (GRCm39) S81P probably damaging Het
Sik3 A G 9: 46,089,784 (GRCm39) S218G probably damaging Het
Slc12a2 C G 18: 58,048,578 (GRCm39) F781L probably damaging Het
Slc12a6 A T 2: 112,166,184 (GRCm39) I188F probably damaging Het
Slc34a2 A G 5: 53,222,139 (GRCm39) probably null Het
Slc35f4 A G 14: 49,559,914 (GRCm39) C44R probably damaging Het
Sytl1 G A 4: 132,988,309 (GRCm39) P16S probably benign Het
Taok3 C T 5: 117,394,003 (GRCm39) T592M possibly damaging Het
Tgfb1i1 T C 7: 127,852,009 (GRCm39) F303L probably damaging Het
Txk T C 5: 72,893,760 (GRCm39) S7G probably benign Het
Utp4 T C 8: 107,645,253 (GRCm39) V550A probably benign Het
Vmn1r229 G A 17: 21,034,976 (GRCm39) D74N probably benign Het
Zfp638 A G 6: 83,844,212 (GRCm39) D25G possibly damaging Het
Zfp646 T C 7: 127,483,079 (GRCm39) V1752A probably benign Het
Other mutations in Plxnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Plxnd1 APN 6 115,944,933 (GRCm39) missense possibly damaging 0.51
IGL01099:Plxnd1 APN 6 115,946,906 (GRCm39) missense probably benign
IGL01323:Plxnd1 APN 6 115,943,760 (GRCm39) missense possibly damaging 0.81
IGL01382:Plxnd1 APN 6 115,937,488 (GRCm39) missense probably damaging 1.00
IGL01786:Plxnd1 APN 6 115,936,896 (GRCm39) missense probably damaging 1.00
IGL02244:Plxnd1 APN 6 115,955,218 (GRCm39) missense probably benign 0.39
IGL02272:Plxnd1 APN 6 115,970,589 (GRCm39) missense probably damaging 1.00
IGL02293:Plxnd1 APN 6 115,940,874 (GRCm39) missense probably damaging 1.00
IGL02465:Plxnd1 APN 6 115,932,703 (GRCm39) makesense probably null
IGL02873:Plxnd1 APN 6 115,936,937 (GRCm39) missense probably damaging 1.00
IGL03209:Plxnd1 APN 6 115,939,318 (GRCm39) missense probably damaging 1.00
Hiss UTSW 6 115,946,890 (GRCm39) missense possibly damaging 0.94
murmer UTSW 6 115,945,754 (GRCm39) missense probably benign 0.00
mutter UTSW 6 115,945,005 (GRCm39) missense probably benign 0.27
rattle UTSW 6 115,936,755 (GRCm39) missense probably damaging 0.96
R0238:Plxnd1 UTSW 6 115,945,754 (GRCm39) missense probably benign 0.00
R0238:Plxnd1 UTSW 6 115,945,754 (GRCm39) missense probably benign 0.00
R0239:Plxnd1 UTSW 6 115,945,754 (GRCm39) missense probably benign 0.00
R0239:Plxnd1 UTSW 6 115,945,754 (GRCm39) missense probably benign 0.00
R0357:Plxnd1 UTSW 6 115,946,421 (GRCm39) missense probably benign 0.00
R0646:Plxnd1 UTSW 6 115,935,660 (GRCm39) splice site probably benign
R0648:Plxnd1 UTSW 6 115,970,962 (GRCm39) missense possibly damaging 0.86
R0718:Plxnd1 UTSW 6 115,943,599 (GRCm39) missense possibly damaging 0.68
R1116:Plxnd1 UTSW 6 115,943,966 (GRCm39) splice site probably null
R1292:Plxnd1 UTSW 6 115,939,644 (GRCm39) unclassified probably benign
R1715:Plxnd1 UTSW 6 115,945,642 (GRCm39) missense probably benign 0.02
R1760:Plxnd1 UTSW 6 115,944,740 (GRCm39) missense possibly damaging 0.95
R1799:Plxnd1 UTSW 6 115,971,018 (GRCm39) missense probably damaging 1.00
R1817:Plxnd1 UTSW 6 115,957,562 (GRCm39) missense possibly damaging 0.83
R1848:Plxnd1 UTSW 6 115,943,507 (GRCm39) missense probably damaging 1.00
R1851:Plxnd1 UTSW 6 115,940,875 (GRCm39) missense probably damaging 1.00
R1864:Plxnd1 UTSW 6 115,946,402 (GRCm39) splice site probably null
R1865:Plxnd1 UTSW 6 115,946,402 (GRCm39) splice site probably null
R1875:Plxnd1 UTSW 6 115,955,045 (GRCm39) splice site probably null
R1899:Plxnd1 UTSW 6 115,946,324 (GRCm39) missense probably benign
R1913:Plxnd1 UTSW 6 115,954,978 (GRCm39) missense possibly damaging 0.50
R1970:Plxnd1 UTSW 6 115,939,478 (GRCm39) missense probably damaging 1.00
R2007:Plxnd1 UTSW 6 115,944,216 (GRCm39) missense probably damaging 1.00
R2134:Plxnd1 UTSW 6 115,934,509 (GRCm39) missense probably damaging 1.00
R2202:Plxnd1 UTSW 6 115,939,725 (GRCm39) missense probably benign 0.45
R2230:Plxnd1 UTSW 6 115,941,105 (GRCm39) missense probably damaging 1.00
R2267:Plxnd1 UTSW 6 115,939,704 (GRCm39) missense probably benign 0.29
R2427:Plxnd1 UTSW 6 115,944,709 (GRCm39) critical splice donor site probably null
R4108:Plxnd1 UTSW 6 115,936,276 (GRCm39) missense probably damaging 1.00
R4233:Plxnd1 UTSW 6 115,942,914 (GRCm39) missense probably benign 0.30
R4280:Plxnd1 UTSW 6 115,933,056 (GRCm39) splice site probably null
R4280:Plxnd1 UTSW 6 115,933,055 (GRCm39) splice site probably benign
R4346:Plxnd1 UTSW 6 115,954,941 (GRCm39) missense probably benign 0.16
R4439:Plxnd1 UTSW 6 115,970,937 (GRCm39) missense probably damaging 0.99
R4572:Plxnd1 UTSW 6 115,932,717 (GRCm39) missense probably damaging 1.00
R4576:Plxnd1 UTSW 6 115,945,005 (GRCm39) missense probably benign 0.27
R4599:Plxnd1 UTSW 6 115,971,237 (GRCm39) missense probably damaging 1.00
R4614:Plxnd1 UTSW 6 115,949,486 (GRCm39) missense possibly damaging 0.83
R4700:Plxnd1 UTSW 6 115,935,576 (GRCm39) missense probably damaging 1.00
R4705:Plxnd1 UTSW 6 115,935,581 (GRCm39) missense probably damaging 1.00
R4806:Plxnd1 UTSW 6 115,937,816 (GRCm39) missense probably damaging 1.00
R4944:Plxnd1 UTSW 6 115,932,726 (GRCm39) missense probably damaging 1.00
R4977:Plxnd1 UTSW 6 115,971,337 (GRCm39) missense probably damaging 1.00
R5069:Plxnd1 UTSW 6 115,942,862 (GRCm39) missense probably damaging 0.98
R5155:Plxnd1 UTSW 6 115,935,949 (GRCm39) critical splice donor site probably null
R5460:Plxnd1 UTSW 6 115,934,609 (GRCm39) missense probably damaging 1.00
R5729:Plxnd1 UTSW 6 115,942,838 (GRCm39) missense probably damaging 1.00
R5909:Plxnd1 UTSW 6 115,945,649 (GRCm39) missense probably benign 0.00
R5992:Plxnd1 UTSW 6 115,944,748 (GRCm39) critical splice acceptor site probably null
R6129:Plxnd1 UTSW 6 115,955,135 (GRCm39) missense probably damaging 1.00
R6254:Plxnd1 UTSW 6 115,954,921 (GRCm39) missense probably benign 0.01
R6273:Plxnd1 UTSW 6 115,955,453 (GRCm39) missense probably damaging 1.00
R6732:Plxnd1 UTSW 6 115,946,890 (GRCm39) missense possibly damaging 0.94
R6857:Plxnd1 UTSW 6 115,970,724 (GRCm39) missense probably benign 0.05
R7243:Plxnd1 UTSW 6 115,949,468 (GRCm39) missense probably benign 0.00
R7282:Plxnd1 UTSW 6 115,937,798 (GRCm39) missense probably damaging 1.00
R7632:Plxnd1 UTSW 6 115,953,600 (GRCm39) missense probably benign
R7699:Plxnd1 UTSW 6 115,936,755 (GRCm39) missense probably damaging 0.96
R7915:Plxnd1 UTSW 6 115,943,879 (GRCm39) missense probably benign 0.00
R8090:Plxnd1 UTSW 6 115,933,578 (GRCm39) missense probably damaging 1.00
R8382:Plxnd1 UTSW 6 115,949,433 (GRCm39) missense probably benign
R8507:Plxnd1 UTSW 6 115,943,866 (GRCm39) missense probably damaging 0.97
R8539:Plxnd1 UTSW 6 115,939,768 (GRCm39) missense possibly damaging 0.94
R8548:Plxnd1 UTSW 6 115,934,558 (GRCm39) missense probably damaging 1.00
R8963:Plxnd1 UTSW 6 115,949,506 (GRCm39) nonsense probably null
R9119:Plxnd1 UTSW 6 115,932,832 (GRCm39) splice site probably benign
R9177:Plxnd1 UTSW 6 115,943,469 (GRCm39) missense probably benign 0.00
R9182:Plxnd1 UTSW 6 115,970,746 (GRCm39) missense probably damaging 0.98
R9185:Plxnd1 UTSW 6 115,934,526 (GRCm39) missense probably damaging 1.00
R9226:Plxnd1 UTSW 6 115,934,524 (GRCm39) missense probably damaging 1.00
R9433:Plxnd1 UTSW 6 115,945,754 (GRCm39) missense probably benign 0.00
R9449:Plxnd1 UTSW 6 115,932,730 (GRCm39) missense probably damaging 1.00
R9451:Plxnd1 UTSW 6 115,940,277 (GRCm39) missense possibly damaging 0.72
R9599:Plxnd1 UTSW 6 115,940,274 (GRCm39) missense possibly damaging 0.78
R9627:Plxnd1 UTSW 6 115,940,274 (GRCm39) missense possibly damaging 0.78
R9644:Plxnd1 UTSW 6 115,940,274 (GRCm39) missense possibly damaging 0.78
R9672:Plxnd1 UTSW 6 115,940,274 (GRCm39) missense possibly damaging 0.78
X0024:Plxnd1 UTSW 6 115,940,271 (GRCm39) missense probably benign 0.02
X0026:Plxnd1 UTSW 6 115,943,745 (GRCm39) missense possibly damaging 0.88
Z1088:Plxnd1 UTSW 6 115,944,471 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATGTCGTCATCCACAGGTG -3'
(R):5'- AGTAGAGAGCCTTGGCTTCC -3'

Sequencing Primer
(F):5'- TCATCCACAGGTGATGCTG -3'
(R):5'- TTCCCTCGAGACAAACCGTTG -3'
Posted On 2018-04-02