Incidental Mutation 'R5155:Plxnd1'
ID 396658
Institutional Source Beutler Lab
Gene Symbol Plxnd1
Ensembl Gene ENSMUSG00000030123
Gene Name plexin D1
Synonyms 6230425C21Rik, b2b1863Clo, b2b553Clo
MMRRC Submission 042737-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5155 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 115931772-115971966 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 115935949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000015511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511]
AlphaFold Q3UH93
Predicted Effect probably null
Transcript: ENSMUST00000015511
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123

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 noncoding transcript
Transcript: ENSMUST00000123165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205003
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,482,447 (GRCm39) V4326A probably damaging Het
Actn4 A G 7: 28,661,442 (GRCm39) probably null Het
Adamts8 A G 9: 30,865,844 (GRCm39) D464G probably benign Het
Adss1 T C 12: 112,604,642 (GRCm39) I366T probably damaging Het
Alox12e T C 11: 70,207,081 (GRCm39) D575G possibly damaging Het
Ankrd44 A T 1: 54,817,489 (GRCm39) M73K probably benign Het
Ap4e1 A G 2: 126,905,289 (GRCm39) T987A probably benign Het
Banp A C 8: 122,727,759 (GRCm39) S318R probably damaging Het
Bcas1 T C 2: 170,260,538 (GRCm39) H47R probably damaging Het
Brwd1 G T 16: 95,803,993 (GRCm39) S2524* probably null Het
Btbd8 T C 5: 107,638,569 (GRCm39) I323T probably damaging Het
Cand2 T A 6: 115,769,219 (GRCm39) D676E probably benign Het
Cc2d1a A T 8: 84,867,755 (GRCm39) H224Q probably benign Het
Ccdc138 A T 10: 58,343,394 (GRCm39) Y83F probably benign Het
Ccdc162 A T 10: 41,429,576 (GRCm39) probably null Het
Ccdc162 A C 10: 41,455,147 (GRCm39) S396A probably damaging Het
Ces1e A T 8: 93,928,034 (GRCm39) *562R probably null Het
Clstn2 T A 9: 97,338,484 (GRCm39) M892L probably benign Het
Crybg3 T C 16: 59,345,264 (GRCm39) T2673A possibly damaging Het
Cstf3 A G 2: 104,482,830 (GRCm39) N326S probably benign Het
Cux1 G A 5: 136,594,295 (GRCm39) probably benign Het
Cyb5r4 T G 9: 86,922,456 (GRCm39) M155R probably benign Het
D130043K22Rik A G 13: 25,056,273 (GRCm39) D535G probably damaging Het
Dnah2 G A 11: 69,313,362 (GRCm39) P4266S probably damaging Het
Dnah7a T A 1: 53,682,654 (GRCm39) N272I probably benign Het
Dsg2 A G 18: 20,731,715 (GRCm39) Y779C possibly damaging Het
Eif4g3 T A 4: 137,854,054 (GRCm39) N507K probably benign Het
Elavl4 T C 4: 110,149,833 (GRCm39) Q3R probably null Het
Engase T G 11: 118,372,107 (GRCm39) I133S probably benign Het
Ercc5 T C 1: 44,219,782 (GRCm39) V1018A probably damaging Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fam8a1 G A 13: 46,827,038 (GRCm39) A270T probably benign Het
Fhdc1 T G 3: 84,353,457 (GRCm39) Q589H probably benign Het
Gatm G A 2: 122,440,334 (GRCm39) T35I probably benign Het
Gcgr T C 11: 120,427,872 (GRCm39) I271T probably benign Het
Gm527 T A 12: 64,970,381 (GRCm39) Y239N probably damaging Het
H2-Ab1 A G 17: 34,486,358 (GRCm39) H139R possibly damaging Het
Herc2 G A 7: 55,877,574 (GRCm39) R4547Q possibly damaging Het
Itga1 A T 13: 115,171,839 (GRCm39) S89T probably benign Het
Kash5 C A 7: 44,839,078 (GRCm39) E53* probably null Het
Katnip A G 7: 125,471,356 (GRCm39) T1486A probably damaging Het
Lrba A G 3: 86,258,607 (GRCm39) M1365V probably benign Het
Lrp1b A C 2: 41,618,634 (GRCm39) probably null Het
Map1a G A 2: 121,132,867 (GRCm39) A990T probably damaging Het
Micall2 C A 5: 139,695,986 (GRCm39) L784F probably damaging Het
Mmp9 T C 2: 164,790,986 (GRCm39) probably null Het
Mrps7 T A 11: 115,495,655 (GRCm39) Y64* probably null Het
Mslnl C T 17: 25,957,942 (GRCm39) Q62* probably null Het
Nfil3 A G 13: 53,122,616 (GRCm39) L96P probably damaging Het
Or2f1 A G 6: 42,721,748 (GRCm39) Y259C probably damaging Het
Phf3 T C 1: 30,863,457 (GRCm39) D756G possibly damaging Het
Prickle4 C T 17: 48,000,982 (GRCm39) probably null Het
Prr9 T A 3: 92,030,356 (GRCm39) T95S possibly damaging Het
Prrc2a A G 17: 35,379,067 (GRCm39) probably null Het
Prrt3 A G 6: 113,474,520 (GRCm39) probably null Het
Psme4 A T 11: 30,826,806 (GRCm39) Y1775F probably damaging Het
Pum2 T C 12: 8,763,572 (GRCm39) V243A possibly damaging Het
Rnf32 T C 5: 29,408,145 (GRCm39) S125P probably damaging Het
Rnf8 A G 17: 29,845,604 (GRCm39) Y65C probably damaging Het
Rph3a T C 5: 121,086,833 (GRCm39) T456A possibly damaging Het
Scaper T A 9: 55,463,370 (GRCm39) Q854L probably null Het
Sez6l2 T C 7: 126,561,545 (GRCm39) S472P probably damaging Het
Spsb3 T C 17: 25,105,969 (GRCm39) probably benign Het
Srebf2 A G 15: 82,080,427 (GRCm39) D40G probably damaging Het
Sspo A G 6: 48,437,408 (GRCm39) N1389D probably benign Het
Taf4b G T 18: 14,963,152 (GRCm39) A631S probably benign Het
Tcstv1b T C 13: 120,635,089 (GRCm39) S124P probably benign Het
Tigd4 G A 3: 84,501,970 (GRCm39) V296M possibly damaging Het
Tsc22d2 T A 3: 58,324,737 (GRCm39) probably benign Het
Uso1 T A 5: 92,315,194 (GRCm39) probably null Het
Vmn2r6 T G 3: 64,445,935 (GRCm39) N597H probably benign Het
Zfc3h1 T A 10: 115,248,026 (GRCm39) S1076R possibly damaging Het
Zfp64 T A 2: 168,748,885 (GRCm39) Q44L 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
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'- CAATGATGCTTTCTTGGAGCG -3'
(R):5'- GTAACACAGGGCAGACTTCC -3'

Sequencing Primer
(F):5'- TAGCAGGGAGGTAGGGCTC -3'
(R):5'- CAGACTTCCGTGGGAGGATTGAG -3'
Posted On 2016-06-21