Incidental Mutation 'R1848:Plxnd1'
ID 207877
Institutional Source Beutler Lab
Gene Symbol Plxnd1
Ensembl Gene ENSMUSG00000030123
Gene Name plexin D1
Synonyms b2b553Clo, 6230425C21Rik, b2b1863Clo
MMRRC Submission 039873-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1848 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 115954811-115995005 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115966546 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1233 (H1233R)
Ref Sequence ENSEMBL: ENSMUSP00000015511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511]
AlphaFold Q3UH93
Predicted Effect probably damaging
Transcript: ENSMUST00000015511
AA Change: H1233R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: H1233R

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
Predicted Effect probably benign
Transcript: ENSMUST00000131590
SMART Domains Protein: ENSMUSP00000115650
Gene: ENSMUSG00000030123

DomainStartEndE-ValueType
Blast:PSI 2 34 1e-13 BLAST
IPT 35 124 4.43e-20 SMART
Blast:IPT 125 177 3e-30 BLAST
Pfam:TIG 180 233 4.6e-6 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
Validation Efficiency 98% (120/123)
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: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C A 8: 87,568,493 (GRCm38) Y86* probably null Het
Aadac A G 3: 60,039,697 (GRCm38) E272G probably damaging Het
Abcc8 A T 7: 46,166,902 (GRCm38) D271E probably benign Het
Acan T C 7: 79,099,035 (GRCm38) F1185L probably benign Het
Adam1a A T 5: 121,519,620 (GRCm38) C537S probably damaging Het
Ago2 A G 15: 73,123,965 (GRCm38) V395A probably benign Het
Alox15 A G 11: 70,350,752 (GRCm38) V101A probably damaging Het
Ankra2 T C 13: 98,271,124 (GRCm38) I194T probably damaging Het
Apobec4 C A 1: 152,756,230 (GRCm38) P3H probably damaging Het
Arid3b G T 9: 57,796,677 (GRCm38) Y329* probably null Het
Atm A T 9: 53,468,012 (GRCm38) S1993T probably benign Het
Bpgm T G 6: 34,487,734 (GRCm38) S129A probably benign Het
Brat1 A G 5: 140,718,509 (GRCm38) D839G possibly damaging Het
Ccdc15 A T 9: 37,342,570 (GRCm38) S128T probably benign Het
Cd300lg A T 11: 102,046,206 (GRCm38) probably benign Het
Cdc34b C A 11: 94,742,477 (GRCm38) Q168K probably damaging Het
Celsr2 A T 3: 108,401,310 (GRCm38) V1767E probably benign Het
Cep350 T C 1: 155,953,651 (GRCm38) D169G probably benign Het
Col7a1 A T 9: 108,969,565 (GRCm38) D1762V possibly damaging Het
Coro7 A G 16: 4,630,434 (GRCm38) L724P probably damaging Het
Crb1 T A 1: 139,237,012 (GRCm38) I1125F probably damaging Het
Ctif T A 18: 75,519,941 (GRCm38) D415V probably damaging Het
Dab1 C T 4: 104,731,751 (GRCm38) A524V probably benign Het
Dhrs2 A G 14: 55,240,841 (GRCm38) D237G probably benign Het
Dhx9 T C 1: 153,465,753 (GRCm38) Q582R probably damaging Het
Dnajc1 C T 2: 18,219,713 (GRCm38) R443Q probably damaging Het
Dnm2 C T 9: 21,505,681 (GRCm38) R837W possibly damaging Het
Dpf2 C A 19: 5,906,615 (GRCm38) Q70H probably damaging Het
Dqx1 T A 6: 83,066,107 (GRCm38) D608E probably damaging Het
Dync2h1 T A 9: 7,049,166 (GRCm38) T3245S probably benign Het
Ect2l A G 10: 18,200,033 (GRCm38) L35P probably damaging Het
Efcab5 A T 11: 77,103,306 (GRCm38) L1285Q probably damaging Het
Eif4g1 G C 16: 20,681,867 (GRCm38) R697P probably damaging Het
Emsy T A 7: 98,600,821 (GRCm38) E753V probably damaging Het
Entpd3 A G 9: 120,558,419 (GRCm38) I227M probably damaging Het
Epn1 T A 7: 5,089,998 (GRCm38) V103E probably damaging Het
Esrra T C 19: 6,912,010 (GRCm38) D337G probably benign Het
Fam83e A T 7: 45,728,769 (GRCm38) K406* probably null Het
Fam83e A T 7: 45,728,770 (GRCm38) K406M possibly damaging Het
Fat2 A G 11: 55,311,558 (GRCm38) I230T probably damaging Het
Fbxl16 A G 17: 25,816,446 (GRCm38) I6V probably benign Het
Fgf23 T C 6: 127,073,193 (GRCm38) I55T probably damaging Het
Fibcd1 T A 2: 31,821,549 (GRCm38) D288V probably damaging Het
Flnb T C 14: 7,892,113 (GRCm38) I594T probably damaging Het
Gabbr2 T C 4: 46,739,823 (GRCm38) E449G probably benign Het
Gbf1 T G 19: 46,272,037 (GRCm38) S1130A possibly damaging Het
Gipc3 T C 10: 81,341,265 (GRCm38) E157G probably damaging Het
Glra3 G T 8: 55,940,907 (GRCm38) A18S probably benign Het
Gm6625 A C 8: 89,146,834 (GRCm38) noncoding transcript Het
Gpx4 A G 10: 80,056,036 (GRCm38) probably benign Het
Grb10 A G 11: 11,946,029 (GRCm38) F264L possibly damaging Het
Grik3 T C 4: 125,694,138 (GRCm38) Y684H probably damaging Het
Gstp1 C T 19: 4,036,795 (GRCm38) probably benign Het
Haus8 G A 8: 71,256,123 (GRCm38) probably benign Het
Hip1 G A 5: 135,435,141 (GRCm38) probably null Het
Hist3h2ba A T 11: 58,949,102 (GRCm38) I55F possibly damaging Het
Hspbap1 T A 16: 35,818,764 (GRCm38) probably null Het
Htr2b T A 1: 86,099,429 (GRCm38) I452F possibly damaging Het
Hydin T A 8: 110,569,808 (GRCm38) H3656Q probably benign Het
Klb T A 5: 65,348,837 (GRCm38) D142E probably benign Het
Lamb3 A T 1: 193,334,616 (GRCm38) T777S possibly damaging Het
Lins1 C A 7: 66,714,322 (GRCm38) T650K probably damaging Het
Loxhd1 A G 18: 77,281,971 (GRCm38) K5R possibly damaging Het
Lpp G A 16: 24,761,655 (GRCm38) M40I probably damaging Het
Mia2 A T 12: 59,170,251 (GRCm38) probably benign Het
Miip A C 4: 147,863,092 (GRCm38) F204V probably damaging Het
Mmp21 T C 7: 133,677,153 (GRCm38) R323G probably benign Het
Mta3 T A 17: 83,755,551 (GRCm38) probably benign Het
Myh1 A G 11: 67,213,630 (GRCm38) K1004R probably benign Het
Myh14 T A 7: 44,632,429 (GRCm38) I810F probably damaging Het
Nbas A C 12: 13,413,597 (GRCm38) D1295A probably damaging Het
Niban3 T C 8: 71,603,769 (GRCm38) M371T possibly damaging Het
Npr2 T G 4: 43,632,384 (GRCm38) V67G probably benign Het
Oas1f C A 5: 120,855,429 (GRCm38) Q235K probably damaging Het
Or12d17 T A 17: 37,467,047 (GRCm38) S280R probably damaging Het
Or13a27 T A 7: 140,345,987 (GRCm38) M1L probably benign Het
Or1p1 G T 11: 74,289,213 (GRCm38) C189F probably damaging Het
Or52ae9 T C 7: 103,741,174 (GRCm38) N22S probably benign Het
Or7e166 C T 9: 19,713,090 (GRCm38) H88Y probably benign Het
Pafah2 GCCCC GCCCCC 4: 134,425,541 (GRCm38) probably null Het
Pde1b A G 15: 103,525,340 (GRCm38) probably null Het
Pdilt T C 7: 119,489,384 (GRCm38) T465A probably benign Het
Ppm1b T A 17: 84,994,124 (GRCm38) M144K probably benign Het
Prkdc T C 16: 15,808,058 (GRCm38) L3316S probably benign Het
Prm2 T A 16: 10,791,591 (GRCm38) probably benign Het
Prmt7 T C 8: 106,237,008 (GRCm38) V240A probably benign Het
Prx C A 7: 27,518,888 (GRCm38) A938E possibly damaging Het
Rbm7 A G 9: 48,490,894 (GRCm38) V131A probably benign Het
Ric1 T A 19: 29,600,813 (GRCm38) probably null Het
Rnf150 A T 8: 82,864,010 (GRCm38) M1L possibly damaging Het
Rnf20 C T 4: 49,644,628 (GRCm38) R298W probably damaging Het
Rp1 T A 1: 4,347,232 (GRCm38) Y1219F possibly damaging Het
Scn7a A G 2: 66,684,013 (GRCm38) probably null Het
Sdad1 A G 5: 92,292,651 (GRCm38) probably null Het
Septin9 T C 11: 117,353,083 (GRCm38) probably benign Het
Serinc3 T C 2: 163,645,489 (GRCm38) probably benign Het
Shc3 C T 13: 51,461,388 (GRCm38) G178R probably damaging Het
Slc4a10 A T 2: 62,316,606 (GRCm38) K1090M probably damaging Het
Slco1a1 T C 6: 141,923,111 (GRCm38) I376V probably benign Het
Slmap A T 14: 26,422,574 (GRCm38) F719L probably benign Het
Smgc A G 15: 91,859,758 (GRCm38) N573D possibly damaging Het
Spx G A 6: 142,414,079 (GRCm38) probably null Het
Srrt C G 5: 137,296,945 (GRCm38) E308Q probably damaging Het
Tas2r130 T A 6: 131,630,597 (GRCm38) R78S probably benign Het
Tchhl1 A G 3: 93,471,101 (GRCm38) R371G probably damaging Het
Teddm2 C T 1: 153,850,448 (GRCm38) A174T probably benign Het
Tktl2 G A 8: 66,512,347 (GRCm38) V186M probably damaging Het
Trim33 T C 3: 103,324,640 (GRCm38) probably benign Het
Tspan31 A G 10: 127,069,458 (GRCm38) V40A probably damaging Het
Uevld A G 7: 46,945,227 (GRCm38) probably benign Het
Vcl G T 14: 21,008,995 (GRCm38) A560S probably benign Het
Vmn2r24 T A 6: 123,816,224 (GRCm38) C837S probably damaging Het
Vmn2r57 C T 7: 41,428,107 (GRCm38) V212M probably damaging Het
Vps13c A G 9: 67,936,340 (GRCm38) T1968A probably benign Het
Vtn A G 11: 78,500,567 (GRCm38) R269G probably damaging Het
Wdcp G A 12: 4,850,245 (GRCm38) V34I possibly damaging Het
Zc3h14 A G 12: 98,752,832 (GRCm38) D152G possibly damaging Het
Zfp189 C T 4: 49,529,266 (GRCm38) P123L probably benign Het
Zfp318 T C 17: 46,406,055 (GRCm38) S1038P possibly damaging Het
Zfp873 A G 10: 82,060,572 (GRCm38) D416G probably benign Het
Other mutations in Plxnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Plxnd1 APN 6 115,967,972 (GRCm38) missense possibly damaging 0.51
IGL01099:Plxnd1 APN 6 115,969,945 (GRCm38) missense probably benign
IGL01323:Plxnd1 APN 6 115,966,799 (GRCm38) missense possibly damaging 0.81
IGL01382:Plxnd1 APN 6 115,960,527 (GRCm38) missense probably damaging 1.00
IGL01786:Plxnd1 APN 6 115,959,935 (GRCm38) missense probably damaging 1.00
IGL02244:Plxnd1 APN 6 115,978,257 (GRCm38) missense probably benign 0.39
IGL02272:Plxnd1 APN 6 115,993,628 (GRCm38) missense probably damaging 1.00
IGL02293:Plxnd1 APN 6 115,963,913 (GRCm38) missense probably damaging 1.00
IGL02465:Plxnd1 APN 6 115,955,742 (GRCm38) makesense probably null
IGL02873:Plxnd1 APN 6 115,959,976 (GRCm38) missense probably damaging 1.00
IGL03209:Plxnd1 APN 6 115,962,357 (GRCm38) missense probably damaging 1.00
Hiss UTSW 6 115,969,929 (GRCm38) missense possibly damaging 0.94
murmer UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
mutter UTSW 6 115,968,044 (GRCm38) missense probably benign 0.27
rattle UTSW 6 115,959,794 (GRCm38) missense probably damaging 0.96
R0238:Plxnd1 UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
R0238:Plxnd1 UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
R0239:Plxnd1 UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
R0239:Plxnd1 UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
R0357:Plxnd1 UTSW 6 115,969,460 (GRCm38) missense probably benign 0.00
R0646:Plxnd1 UTSW 6 115,958,699 (GRCm38) splice site probably benign
R0648:Plxnd1 UTSW 6 115,994,001 (GRCm38) missense possibly damaging 0.86
R0718:Plxnd1 UTSW 6 115,966,638 (GRCm38) missense possibly damaging 0.68
R1116:Plxnd1 UTSW 6 115,967,005 (GRCm38) splice site probably null
R1292:Plxnd1 UTSW 6 115,962,683 (GRCm38) unclassified probably benign
R1715:Plxnd1 UTSW 6 115,968,681 (GRCm38) missense probably benign 0.02
R1760:Plxnd1 UTSW 6 115,967,779 (GRCm38) missense possibly damaging 0.95
R1799:Plxnd1 UTSW 6 115,994,057 (GRCm38) missense probably damaging 1.00
R1817:Plxnd1 UTSW 6 115,980,601 (GRCm38) missense possibly damaging 0.83
R1851:Plxnd1 UTSW 6 115,963,914 (GRCm38) missense probably damaging 1.00
R1864:Plxnd1 UTSW 6 115,969,441 (GRCm38) splice site probably null
R1865:Plxnd1 UTSW 6 115,969,441 (GRCm38) splice site probably null
R1875:Plxnd1 UTSW 6 115,978,084 (GRCm38) splice site probably null
R1899:Plxnd1 UTSW 6 115,969,363 (GRCm38) missense probably benign
R1913:Plxnd1 UTSW 6 115,978,017 (GRCm38) missense possibly damaging 0.50
R1970:Plxnd1 UTSW 6 115,962,517 (GRCm38) missense probably damaging 1.00
R2007:Plxnd1 UTSW 6 115,967,255 (GRCm38) missense probably damaging 1.00
R2134:Plxnd1 UTSW 6 115,957,548 (GRCm38) missense probably damaging 1.00
R2202:Plxnd1 UTSW 6 115,962,764 (GRCm38) missense probably benign 0.45
R2230:Plxnd1 UTSW 6 115,964,144 (GRCm38) missense probably damaging 1.00
R2267:Plxnd1 UTSW 6 115,962,743 (GRCm38) missense probably benign 0.29
R2427:Plxnd1 UTSW 6 115,967,748 (GRCm38) critical splice donor site probably null
R4108:Plxnd1 UTSW 6 115,959,315 (GRCm38) missense probably damaging 1.00
R4233:Plxnd1 UTSW 6 115,965,953 (GRCm38) missense probably benign 0.30
R4280:Plxnd1 UTSW 6 115,956,095 (GRCm38) splice site probably null
R4280:Plxnd1 UTSW 6 115,956,094 (GRCm38) splice site probably benign
R4346:Plxnd1 UTSW 6 115,977,980 (GRCm38) missense probably benign 0.16
R4439:Plxnd1 UTSW 6 115,993,976 (GRCm38) missense probably damaging 0.99
R4572:Plxnd1 UTSW 6 115,955,756 (GRCm38) missense probably damaging 1.00
R4576:Plxnd1 UTSW 6 115,968,044 (GRCm38) missense probably benign 0.27
R4599:Plxnd1 UTSW 6 115,994,276 (GRCm38) missense probably damaging 1.00
R4614:Plxnd1 UTSW 6 115,972,525 (GRCm38) missense possibly damaging 0.83
R4700:Plxnd1 UTSW 6 115,958,615 (GRCm38) missense probably damaging 1.00
R4705:Plxnd1 UTSW 6 115,958,620 (GRCm38) missense probably damaging 1.00
R4806:Plxnd1 UTSW 6 115,960,855 (GRCm38) missense probably damaging 1.00
R4944:Plxnd1 UTSW 6 115,955,765 (GRCm38) missense probably damaging 1.00
R4977:Plxnd1 UTSW 6 115,994,376 (GRCm38) missense probably damaging 1.00
R5069:Plxnd1 UTSW 6 115,965,901 (GRCm38) missense probably damaging 0.98
R5155:Plxnd1 UTSW 6 115,958,988 (GRCm38) critical splice donor site probably null
R5460:Plxnd1 UTSW 6 115,957,648 (GRCm38) missense probably damaging 1.00
R5729:Plxnd1 UTSW 6 115,965,877 (GRCm38) missense probably damaging 1.00
R5909:Plxnd1 UTSW 6 115,968,688 (GRCm38) missense probably benign 0.00
R5992:Plxnd1 UTSW 6 115,967,787 (GRCm38) critical splice acceptor site probably null
R6129:Plxnd1 UTSW 6 115,978,174 (GRCm38) missense probably damaging 1.00
R6254:Plxnd1 UTSW 6 115,977,960 (GRCm38) missense probably benign 0.01
R6273:Plxnd1 UTSW 6 115,978,492 (GRCm38) missense probably damaging 1.00
R6310:Plxnd1 UTSW 6 115,976,736 (GRCm38) missense possibly damaging 0.94
R6732:Plxnd1 UTSW 6 115,969,929 (GRCm38) missense possibly damaging 0.94
R6857:Plxnd1 UTSW 6 115,993,763 (GRCm38) missense probably benign 0.05
R7243:Plxnd1 UTSW 6 115,972,507 (GRCm38) missense probably benign 0.00
R7282:Plxnd1 UTSW 6 115,960,837 (GRCm38) missense probably damaging 1.00
R7632:Plxnd1 UTSW 6 115,976,639 (GRCm38) missense probably benign
R7699:Plxnd1 UTSW 6 115,959,794 (GRCm38) missense probably damaging 0.96
R7915:Plxnd1 UTSW 6 115,966,918 (GRCm38) missense probably benign 0.00
R8090:Plxnd1 UTSW 6 115,956,617 (GRCm38) missense probably damaging 1.00
R8382:Plxnd1 UTSW 6 115,972,472 (GRCm38) missense probably benign
R8507:Plxnd1 UTSW 6 115,966,905 (GRCm38) missense probably damaging 0.97
R8539:Plxnd1 UTSW 6 115,962,807 (GRCm38) missense possibly damaging 0.94
R8548:Plxnd1 UTSW 6 115,957,597 (GRCm38) missense probably damaging 1.00
R8963:Plxnd1 UTSW 6 115,972,545 (GRCm38) nonsense probably null
R9119:Plxnd1 UTSW 6 115,955,871 (GRCm38) splice site probably benign
R9177:Plxnd1 UTSW 6 115,966,508 (GRCm38) missense probably benign 0.00
R9182:Plxnd1 UTSW 6 115,993,785 (GRCm38) missense probably damaging 0.98
R9185:Plxnd1 UTSW 6 115,957,565 (GRCm38) missense probably damaging 1.00
R9226:Plxnd1 UTSW 6 115,957,563 (GRCm38) missense probably damaging 1.00
R9433:Plxnd1 UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
R9449:Plxnd1 UTSW 6 115,955,769 (GRCm38) missense probably damaging 1.00
R9451:Plxnd1 UTSW 6 115,963,316 (GRCm38) missense possibly damaging 0.72
R9599:Plxnd1 UTSW 6 115,963,313 (GRCm38) missense possibly damaging 0.78
R9627:Plxnd1 UTSW 6 115,963,313 (GRCm38) missense possibly damaging 0.78
R9644:Plxnd1 UTSW 6 115,963,313 (GRCm38) missense possibly damaging 0.78
R9672:Plxnd1 UTSW 6 115,963,313 (GRCm38) missense possibly damaging 0.78
X0024:Plxnd1 UTSW 6 115,963,310 (GRCm38) missense probably benign 0.02
X0026:Plxnd1 UTSW 6 115,966,784 (GRCm38) missense possibly damaging 0.88
Z1088:Plxnd1 UTSW 6 115,967,510 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCAGCTGGCACTAACCAATG -3'
(R):5'- TCGTCATCCATGTGAGCACC -3'

Sequencing Primer
(F):5'- GCTGGCACTAACCAATGACTTG -3'
(R):5'- ATCCATGTGAGCACCCGACTG -3'
Posted On 2014-06-23