Incidental Mutation 'R4705:Plxnd1'
ID 355109
Institutional Source Beutler Lab
Gene Symbol Plxnd1
Ensembl Gene ENSMUSG00000030123
Gene Name plexin D1
Synonyms 6230425C21Rik, b2b1863Clo, b2b553Clo
MMRRC Submission 041953-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4705 (G1)
Quality Score 193
Status Validated
Chromosome 6
Chromosomal Location 115931772-115971966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 115935581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 1735 (L1735R)
Ref Sequence ENSEMBL: ENSMUSP00000015511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511]
AlphaFold Q3UH93
Predicted Effect probably damaging
Transcript: ENSMUST00000015511
AA Change: L1735R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: L1735R

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
Meta Mutation Damage Score 0.6406 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 96% (113/118)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,369 (GRCm39) V230A possibly damaging Het
2010315B03Rik T C 9: 124,056,631 (GRCm39) T123A possibly damaging Het
Abca4 T C 3: 121,899,019 (GRCm39) V667A probably damaging Het
Abcb5 A G 12: 118,929,040 (GRCm39) S4P possibly damaging Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Ahnak C A 19: 8,994,270 (GRCm39) H5185N probably benign Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
Aspscr1 A T 11: 120,579,771 (GRCm39) K39N possibly damaging Het
Atf7ip C T 6: 136,538,192 (GRCm39) P483L probably damaging Het
Atp11a C G 8: 12,863,118 (GRCm39) P99R probably damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
Bag6 C A 17: 35,361,319 (GRCm39) P476H probably damaging Het
Bltp1 C T 3: 37,096,038 (GRCm39) T1108I probably benign Het
C2cd3 A G 7: 100,044,395 (GRCm39) K326E possibly damaging Het
Casp1 A G 9: 5,306,204 (GRCm39) D363G probably damaging Het
Ccdc33 G T 9: 58,024,840 (GRCm39) Q129K probably benign Het
Ccdc88a T C 11: 29,372,586 (GRCm39) I107T probably benign Het
Cela2a T C 4: 141,548,722 (GRCm39) N138S probably benign Het
Cfap61 A C 2: 145,877,122 (GRCm39) R460S probably damaging Het
Clstn2 T C 9: 97,345,612 (GRCm39) N579D possibly damaging Het
Col13a1 C A 10: 61,685,944 (GRCm39) G683W unknown Het
Col4a2 G A 8: 11,363,504 (GRCm39) R14Q possibly damaging Het
Cpa6 A G 1: 10,551,283 (GRCm39) S164P probably benign Het
Cpq A G 15: 33,497,484 (GRCm39) N408S probably benign Het
Ctnnal1 T C 4: 56,812,579 (GRCm39) T690A probably benign Het
Cx3cl1 A T 8: 95,506,835 (GRCm39) N280I probably benign Het
Cyp2b19 C T 7: 26,456,717 (GRCm39) R36C probably benign Het
Ddx51 T C 5: 110,803,174 (GRCm39) V269A probably damaging Het
Dipk2a T C 9: 94,402,688 (GRCm39) N325D possibly damaging Het
Dlst G T 12: 85,165,616 (GRCm39) probably null Het
Dmkn G C 7: 30,463,406 (GRCm39) A20P probably damaging Het
Dnhd1 T C 7: 105,304,948 (GRCm39) I330T probably damaging Het
Dock3 G A 9: 106,902,535 (GRCm39) H292Y probably damaging Het
Ell A G 8: 71,031,584 (GRCm39) D94G possibly damaging Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Fam3d T C 14: 8,349,347 (GRCm38) E201G probably benign Het
Fcgbp A G 7: 27,806,721 (GRCm39) K2230E probably benign Het
Frmd5 G T 2: 121,393,344 (GRCm39) probably benign Het
Gas2l1 G A 11: 5,010,867 (GRCm39) S654L possibly damaging Het
Gltpd2 G T 11: 70,410,966 (GRCm39) E86* probably null Het
Glyat T C 19: 12,628,661 (GRCm39) L152P possibly damaging Het
Gm17330 T C 12: 24,018,783 (GRCm39) T22A probably damaging Het
Gm9931 T A 1: 147,157,591 (GRCm39) noncoding transcript Het
Gpatch1 A T 7: 34,998,730 (GRCm39) probably null Het
Gpr4 T C 7: 18,956,819 (GRCm39) L247P probably damaging Het
Gtpbp3 G A 8: 71,943,758 (GRCm39) E214K probably benign Het
Hdac7 G T 15: 97,709,468 (GRCm39) Q21K probably damaging Het
Hivep3 A G 4: 119,729,247 (GRCm39) probably benign Het
Hk2 C T 6: 82,716,631 (GRCm39) M300I possibly damaging Het
Ighv1-61 T C 12: 115,322,899 (GRCm39) Y71C probably damaging Het
Il36b T C 2: 24,044,630 (GRCm39) V10A probably benign Het
Inpp5f G T 7: 128,265,711 (GRCm39) S152I probably damaging Het
Jag1 C A 2: 136,938,229 (GRCm39) W257L probably damaging Het
Jak2 T A 19: 29,272,315 (GRCm39) N612K possibly damaging Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kbtbd6 A G 14: 79,690,046 (GRCm39) D247G probably benign Het
Kif15 A G 9: 122,789,058 (GRCm39) probably null Het
Kndc1 A G 7: 139,510,036 (GRCm39) T1293A possibly damaging Het
Lpar5 T C 6: 125,059,170 (GRCm39) I297T possibly damaging Het
Lpin2 T A 17: 71,539,138 (GRCm39) probably benign Het
Lypd10 T A 7: 24,412,934 (GRCm39) L114Q probably damaging Het
Mfsd4a A T 1: 131,981,309 (GRCm39) L230Q probably damaging Het
Mmp8 T C 9: 7,565,550 (GRCm39) V313A probably benign Het
Mrpl19 A T 6: 81,941,266 (GRCm39) D98E probably damaging Het
Mybl1 A G 1: 9,760,340 (GRCm39) I86T probably damaging Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Necab1 T C 4: 15,052,628 (GRCm39) T117A probably damaging Het
Nol11 A G 11: 107,075,544 (GRCm39) probably benign Het
Nucb2 G A 7: 116,139,262 (GRCm39) probably null Het
Nup58 G T 14: 60,488,664 (GRCm39) P19T unknown Het
Odf2 T A 2: 29,794,046 (GRCm39) L301Q probably damaging Het
Oog4 T C 4: 143,165,445 (GRCm39) Y234C probably benign Het
Or11j4 A G 14: 50,630,257 (GRCm39) I15V probably benign Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Papln T C 12: 83,823,982 (GRCm39) probably null Het
Paqr6 C T 3: 88,273,236 (GRCm39) A76V probably benign Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pdzd8 T C 19: 59,333,743 (GRCm39) T93A possibly damaging Het
Pkdrej A T 15: 85,705,368 (GRCm39) Y189* probably null Het
Pknox2 A T 9: 36,834,934 (GRCm39) N178K possibly damaging Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Polm T A 11: 5,787,663 (GRCm39) D30V possibly damaging Het
Rap1gap2 T A 11: 74,328,265 (GRCm39) I100F probably damaging Het
Rasgef1c T A 11: 49,869,294 (GRCm39) W414R probably benign Het
Rassf1 A G 9: 107,435,066 (GRCm39) D187G probably benign Het
Rhag T C 17: 41,147,329 (GRCm39) I397T probably benign Het
Rnft2 A G 5: 118,366,928 (GRCm39) F269S probably damaging Het
Rnmt T C 18: 68,447,196 (GRCm39) F360S probably damaging Het
Ror2 C T 13: 53,271,333 (GRCm39) A329T probably benign Het
Slc4a1 T A 11: 102,247,084 (GRCm39) N501I possibly damaging Het
Slc4a7 T A 14: 14,733,856 (GRCm38) S89T probably damaging Het
Sptbn1 G A 11: 30,050,660 (GRCm39) H2310Y probably benign Het
Tbc1d9b C A 11: 50,031,289 (GRCm39) N103K probably benign Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tmem100 C T 11: 89,926,389 (GRCm39) T72I probably damaging Het
Ttc38 A G 15: 85,737,164 (GRCm39) T350A probably benign Het
Ubr4 C T 4: 139,177,840 (GRCm39) T3241M probably damaging Het
Unc13d A T 11: 115,964,214 (GRCm39) M350K possibly damaging Het
Vit T C 17: 78,932,543 (GRCm39) I550T probably damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Zbtb12 T A 17: 35,115,377 (GRCm39) H387Q possibly 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
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
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'- ATGCCATGATACCATTGGTGCTC -3'
(R):5'- GTGGCCTCAAGTCACAAGAC -3'

Sequencing Primer
(F):5'- ATGATACCATTGGTGCTCTAACC -3'
(R):5'- AGAGGCCACATTCTGAGCC -3'
Posted On 2015-10-21