Incidental Mutation 'R7915:Plxnd1'
ID 648012
Institutional Source Beutler Lab
Gene Symbol Plxnd1
Ensembl Gene ENSMUSG00000030123
Gene Name plexin D1
Synonyms 6230425C21Rik, b2b1863Clo, b2b553Clo
MMRRC Submission 045963-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7915 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 115931772-115971966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115943879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1140 (D1140G)
Ref Sequence ENSEMBL: ENSMUSP00000015511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511]
AlphaFold Q3UH93
Predicted Effect probably benign
Transcript: ENSMUST00000015511
AA Change: D1140G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: D1140G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (66/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T G 17: 24,484,507 (GRCm39) H1585P probably damaging Het
Acaca A T 11: 84,167,414 (GRCm39) T1063S probably benign Het
Actc1 T A 2: 113,880,967 (GRCm39) K86M probably damaging Het
Amz1 A G 5: 140,727,190 (GRCm39) N51S probably benign Het
Arhgap33 G A 7: 30,222,648 (GRCm39) P1095S probably benign Het
Bicra T C 7: 15,722,447 (GRCm39) T357A probably benign Het
C130032M10Rik A G 9: 114,345,123 (GRCm39) R120G unknown Het
Cadps A G 14: 12,705,544 (GRCm38) F284L possibly damaging Het
Ccdc83 G A 7: 89,893,290 (GRCm39) Q156* probably null Het
Cdh20 T A 1: 104,861,898 (GRCm39) M26K probably benign Het
Cdh23 A G 10: 60,143,668 (GRCm39) L2979P probably damaging Het
Cdhr17 A G 5: 17,032,012 (GRCm39) N556D probably benign Het
Crocc2 T C 1: 93,141,363 (GRCm39) L1172P probably damaging Het
Cyp2d10 C T 15: 82,288,628 (GRCm39) probably null Het
Cyp2j9 T A 4: 96,479,621 (GRCm39) probably benign Het
Dgcr2 A G 16: 17,677,266 (GRCm39) probably null Het
Dio3 A G 12: 110,246,473 (GRCm39) M270V Het
Dll1 C A 17: 15,588,690 (GRCm39) D662Y probably damaging Het
Drd1 G T 13: 54,207,834 (GRCm39) P127T probably damaging Het
Evc2 T C 5: 37,544,206 (GRCm39) S652P probably damaging Het
Fam149a C A 8: 45,794,280 (GRCm39) M708I probably benign Het
Fam89a T C 8: 125,467,895 (GRCm39) E139G probably damaging Het
Gpr141 T C 13: 19,936,729 (GRCm39) I15M probably benign Het
Hcn4 G A 9: 58,731,218 (GRCm39) E142K unknown Het
Hivep3 T A 4: 119,954,962 (GRCm39) S1093T possibly damaging Het
Inpp5f C A 7: 128,269,433 (GRCm39) T261K probably benign Het
Ints3 A T 3: 90,340,132 (GRCm39) D42E probably benign Het
Krt90 A T 15: 101,466,838 (GRCm39) probably null Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lrig1 C A 6: 94,607,082 (GRCm39) probably null Het
Mapk14 A G 17: 28,947,928 (GRCm39) T221A probably benign Het
Megf10 A T 18: 57,373,807 (GRCm39) T202S probably benign Het
Neo1 A T 9: 58,838,264 (GRCm39) F507I probably benign Het
Or7a35 A G 10: 78,853,264 (GRCm39) Y36C probably damaging Het
Or8b48 A T 9: 38,492,969 (GRCm39) Y132F probably damaging Het
Or8k37 T A 2: 86,469,110 (GRCm39) *314L probably null Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pkd1 T A 17: 24,811,630 (GRCm39) Y3724* probably null Het
Pramel22 T C 4: 143,382,315 (GRCm39) K127R possibly damaging Het
Prex1 A G 2: 166,463,112 (GRCm39) S250P probably damaging Het
Prom1 A T 5: 44,162,277 (GRCm39) M777K possibly damaging Het
Prrc2c A C 1: 162,519,977 (GRCm39) S2125A probably benign Het
Ptpn12 A G 5: 21,214,449 (GRCm39) I229T probably damaging Het
Ranbp6 A G 19: 29,790,073 (GRCm39) V93A probably benign Het
Rtn3 A G 19: 7,434,865 (GRCm39) C376R probably benign Het
Sis A C 3: 72,828,471 (GRCm39) H1201Q probably damaging Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Slc3a2 G A 19: 8,685,182 (GRCm39) R535W probably damaging Het
Slc5a2 T A 7: 127,864,966 (GRCm39) L33Q probably damaging Het
Sltm G T 9: 70,494,431 (GRCm39) R927L probably damaging Het
Spaca7b T C 8: 11,728,645 (GRCm39) T9A possibly damaging Het
Stat1 A G 1: 52,190,440 (GRCm39) D565G probably benign Het
Terb1 T C 8: 105,173,848 (GRCm39) K745R possibly damaging Het
Tescl T C 7: 24,033,113 (GRCm39) I71V probably damaging Het
Tgm1 T C 14: 55,937,883 (GRCm39) D742G probably damaging Het
Tmem128 T A 5: 38,423,875 (GRCm39) W30R probably benign Het
Tox T A 4: 6,822,949 (GRCm39) M123L probably benign Het
Tsnaxip1 A G 8: 106,569,413 (GRCm39) S547G possibly damaging Het
Ttn T A 2: 76,567,539 (GRCm39) K27785* probably null Het
Tut7 T C 13: 59,932,628 (GRCm39) I1345V probably benign Het
Usp38 A C 8: 81,727,712 (GRCm39) S340R probably damaging Het
Utrn A T 10: 12,340,956 (GRCm39) H2840Q probably damaging Het
Vars2 T C 17: 35,975,731 (GRCm39) I229V probably damaging Het
Vmn1r16 A T 6: 57,300,380 (GRCm39) Y81N probably damaging Het
Vmn2r98 A T 17: 19,287,493 (GRCm39) D442V probably benign Het
Vps13d T C 4: 144,813,389 (GRCm39) I3296V Het
Wwtr1 A G 3: 57,483,020 (GRCm39) probably null 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
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
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'- TCACATGGATGACGAGGGTG -3'
(R):5'- GTGAGATGGTCCTATGCAGC -3'

Sequencing Primer
(F):5'- GTGAGCGGCTCTCCTGG -3'
(R):5'- TATGCAGCCAGGGTCCTGAAG -3'
Posted On 2020-09-15