Incidental Mutation 'R1865:Plxnd1'
ID 208616
Institutional Source Beutler Lab
Gene Symbol Plxnd1
Ensembl Gene ENSMUSG00000030123
Gene Name plexin D1
Synonyms 6230425C21Rik, b2b1863Clo, b2b553Clo
MMRRC Submission 039888-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1865 (G1)
Quality Score 186
Status Validated
Chromosome 6
Chromosomal Location 115931772-115971966 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 115946402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511]
AlphaFold Q3UH93
Predicted Effect probably benign
Transcript: ENSMUST00000015511
AA Change: M853K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: M853K

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 null
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 0.2482 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency 98% (99/101)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,797,094 (GRCm39) noncoding transcript Het
Aatk G A 11: 119,901,048 (GRCm39) T1059M probably benign Het
Adgrg2 G A X: 159,265,347 (GRCm39) M532I probably benign Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Ahcyl2 G A 6: 29,908,354 (GRCm39) V575M probably damaging Het
Apobr A G 7: 126,185,140 (GRCm39) D217G probably benign Het
Aqp9 A C 9: 71,019,658 (GRCm39) N267K probably benign Het
Arap2 A G 5: 62,855,606 (GRCm39) V610A probably damaging Het
Arhgap21 T C 2: 20,866,015 (GRCm39) E893G probably damaging Het
Atn1 T C 6: 124,722,259 (GRCm39) probably benign Het
Bcl7a A T 5: 123,494,032 (GRCm39) D68V probably damaging Het
Cbl A C 9: 44,075,462 (GRCm39) C394W probably damaging Het
Ccdc18 T A 5: 108,341,668 (GRCm39) D854E probably benign Het
Ccdc93 A T 1: 121,426,956 (GRCm39) E580V probably damaging Het
Cd180 T A 13: 102,842,517 (GRCm39) M521K probably benign Het
Cd300ld2 T G 11: 114,903,444 (GRCm39) probably benign Het
Cdh10 T C 15: 18,899,690 (GRCm39) F6L probably benign Het
Cep78 A G 19: 15,933,368 (GRCm39) S737P probably damaging Het
Ces1f G T 8: 94,000,893 (GRCm39) probably benign Het
Clcn1 T A 6: 42,282,475 (GRCm39) D442E probably damaging Het
Col20a1 T C 2: 180,657,606 (GRCm39) L1250P possibly damaging Het
Crispld2 G A 8: 120,737,306 (GRCm39) G19E probably benign Het
Ctbp2 C T 7: 132,592,283 (GRCm39) A849T probably benign Het
Cts6 A G 13: 61,349,393 (GRCm39) I105T probably benign Het
Cul4a A G 8: 13,192,589 (GRCm39) T617A possibly damaging Het
Cyp2c68 G T 19: 39,722,733 (GRCm39) R272S probably benign Het
Cystm1 A G 18: 36,499,729 (GRCm39) Y48C unknown Het
Dach1 T A 14: 98,077,645 (GRCm39) R579S possibly damaging Het
Ddrgk1 A T 2: 130,496,215 (GRCm39) I270N probably damaging Het
Dhx32 A T 7: 133,339,025 (GRCm39) C197S probably benign Het
Dnah10 A C 5: 124,909,590 (GRCm39) probably null Het
Ecm2 T C 13: 49,683,621 (GRCm39) V533A probably benign Het
Eif4g1 A G 16: 20,497,398 (GRCm39) T202A probably damaging Het
Ephb4 A T 5: 137,361,572 (GRCm39) Q525L possibly damaging Het
F2 T C 2: 91,465,539 (GRCm39) D82G probably benign Het
Fam184b G T 5: 45,689,231 (GRCm39) N868K possibly damaging Het
Fbxo25 A G 8: 13,985,248 (GRCm39) T314A probably damaging Het
Folh1 A G 7: 86,375,114 (GRCm39) M624T possibly damaging Het
Gabra5 G A 7: 57,138,940 (GRCm39) R71* probably null Het
Gmpr G T 13: 45,696,101 (GRCm39) V278F probably damaging Het
Hmcn1 A T 1: 150,479,563 (GRCm39) C4634S probably damaging Het
Hspa5 T C 2: 34,664,553 (GRCm39) F336L probably damaging Het
Igfbp4 G A 11: 98,932,512 (GRCm39) G64R probably damaging Het
Itch G A 2: 155,010,666 (GRCm39) V45I probably damaging Het
Itgb1 T A 8: 129,446,938 (GRCm39) F484L probably benign Het
Itpr3 A G 17: 27,338,997 (GRCm39) I2593V probably benign Het
Kcnj8 T A 6: 142,515,966 (GRCm39) H47L probably damaging Het
Lcn2 T C 2: 32,275,434 (GRCm39) T194A possibly damaging Het
Mast4 A T 13: 102,930,625 (GRCm39) V209D probably damaging Het
Matn3 T A 12: 9,002,041 (GRCm39) D84E probably damaging Het
Mcm7 T A 5: 138,168,637 (GRCm39) Q18L possibly damaging Het
Mctp1 G A 13: 76,533,267 (GRCm39) C205Y possibly damaging Het
Megf11 A G 9: 64,587,581 (GRCm39) T460A probably benign Het
Mlh1 A T 9: 111,086,092 (GRCm39) probably benign Het
Mylk T A 16: 34,732,600 (GRCm39) S627T probably benign Het
Nat2 A G 8: 67,954,204 (GRCm39) M105V possibly damaging Het
Nav2 A G 7: 49,197,943 (GRCm39) T2A possibly damaging Het
Ndst3 A T 3: 123,465,120 (GRCm39) I284N probably damaging Het
Nfix A G 8: 85,498,904 (GRCm39) V23A possibly damaging Het
Nr2f1 T C 13: 78,338,045 (GRCm39) Y200C probably damaging Het
Or14a258 T C 7: 86,035,769 (GRCm39) Y33C probably damaging Het
Or2g25 T C 17: 37,970,754 (GRCm39) I157V possibly damaging Het
Or6b13 G A 7: 139,782,285 (GRCm39) R133C probably damaging Het
Or8d1b T C 9: 38,887,200 (GRCm39) V76A probably benign Het
Or8u8 T G 2: 86,011,882 (GRCm39) D191A probably damaging Het
Pcdhb21 T C 18: 37,647,648 (GRCm39) V259A possibly damaging Het
Phip A T 9: 82,827,845 (GRCm39) V127E probably damaging Het
Pik3r5 A G 11: 68,383,318 (GRCm39) D379G probably damaging Het
Pkdrej A T 15: 85,704,525 (GRCm39) C470* probably null Het
Polr1a G A 6: 71,943,508 (GRCm39) V1248I probably damaging Het
Pou3f2 A T 4: 22,486,917 (GRCm39) C405* probably null Het
Ppp1r3a A T 6: 14,718,404 (GRCm39) S837T probably damaging Het
Rest T A 5: 77,428,745 (GRCm39) V388E probably damaging Het
Rnft2 A T 5: 118,370,540 (GRCm39) W220R probably damaging Het
Rnpc3 A T 3: 113,415,559 (GRCm39) Y107* probably null Het
Senp8 G A 9: 59,644,835 (GRCm39) S94F probably damaging Het
Ski A G 4: 155,306,698 (GRCm39) S94P possibly damaging Het
Skint8 A G 4: 111,794,192 (GRCm39) D194G probably damaging Het
Slc35c2 C A 2: 165,120,303 (GRCm39) R232L probably benign Het
Slc43a3 T A 2: 84,777,245 (GRCm39) V198D possibly damaging Het
Slc8b1 A T 5: 120,667,717 (GRCm39) N467I probably damaging Het
Srbd1 A G 17: 86,422,732 (GRCm39) probably benign Het
Sstr3 T C 15: 78,424,168 (GRCm39) H193R probably damaging Het
Sv2c A C 13: 96,113,283 (GRCm39) S555R probably benign Het
Tagln3 A G 16: 45,532,013 (GRCm39) V173A possibly damaging Het
Tctn2 C A 5: 124,757,143 (GRCm39) noncoding transcript Het
Tfap2a G T 13: 40,881,884 (GRCm39) H167Q probably damaging Het
Tmem213 A G 6: 38,086,487 (GRCm39) T48A possibly damaging Het
Tmem30c A G 16: 57,090,352 (GRCm39) probably benign Het
Tmem37 A G 1: 119,995,952 (GRCm39) S42P probably damaging Het
Tnxb C T 17: 34,922,431 (GRCm39) Q2415* probably null Het
Ttyh1 T C 7: 4,122,730 (GRCm39) L26P probably damaging Het
Ubn2 T A 6: 38,417,425 (GRCm39) D154E possibly damaging Het
Vdac3 A T 8: 23,070,553 (GRCm39) Y119* probably null Het
Vmn2r58 T C 7: 41,486,682 (GRCm39) I738V possibly damaging Het
Zfp704 A G 3: 9,539,551 (GRCm39) probably benign Het
Znfx1 G A 2: 166,880,729 (GRCm39) R352W probably damaging 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
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
R6310:Plxnd1 UTSW 6 115,953,697 (GRCm39) missense possibly damaging 0.94
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'- TGTCTGTGCCCCACTAAGAC -3'
(R):5'- AGTAATTCCTCCACATGGGGTC -3'

Sequencing Primer
(F):5'- GTCTGTGCCCCACTAAGACATTAG -3'
(R):5'- TCCCTCCCCATGAGAAGGACTG -3'
Posted On 2014-06-30