Incidental Mutation 'R9627:Plxnd1'
ID 725212
Institutional Source Beutler Lab
Gene Symbol Plxnd1
Ensembl Gene ENSMUSG00000030123
Gene Name plexin D1
Synonyms 6230425C21Rik, b2b1863Clo, b2b553Clo
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9627 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 115931772-115971966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115940274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1370 (R1370Q)
Ref Sequence ENSEMBL: ENSMUSP00000015511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511]
AlphaFold Q3UH93
Predicted Effect possibly damaging
Transcript: ENSMUST00000015511
AA Change: R1370Q

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: R1370Q

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: 99.6%
  • 20x: 98.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,487,834 (GRCm39) probably benign Het
Abca14 T C 7: 119,854,530 (GRCm39) V898A probably benign Het
Adamtsl1 A T 4: 86,306,762 (GRCm39) D1400V possibly damaging Het
Akap6 T A 12: 53,151,413 (GRCm39) M1159K Het
Atg13 C A 2: 91,509,098 (GRCm39) G446* probably null Het
Atp6v1g2 G T 17: 35,454,956 (GRCm39) probably null Het
Bmp2k C T 5: 97,201,028 (GRCm39) A316V possibly damaging Het
Ccdc34 AAGA AA 2: 109,871,010 (GRCm39) probably null Het
Cfap251 A G 5: 123,460,557 (GRCm39) D1173G probably benign Het
Cln6 T A 9: 62,754,303 (GRCm39) I115N probably damaging Het
Cma1 T C 14: 56,181,289 (GRCm39) T39A probably benign Het
Cpsf1 A T 15: 76,484,088 (GRCm39) M744K probably damaging Het
Csf1r A G 18: 61,260,972 (GRCm39) Y721C probably damaging Het
Dcaf12 A G 4: 41,293,976 (GRCm39) L387P probably benign Het
Ephb1 T C 9: 101,918,468 (GRCm39) E347G possibly damaging Het
Fig4 T A 10: 41,108,178 (GRCm39) H674L probably benign Het
Foxa3 T A 7: 18,748,458 (GRCm39) K223* probably null Het
Gimap7 T C 6: 48,700,600 (GRCm39) V62A probably damaging Het
Glrx3 T A 7: 137,046,755 (GRCm39) V49E probably benign Het
Greb1 T C 12: 16,756,167 (GRCm39) Y823C probably damaging Het
H3c7 G T 13: 23,728,793 (GRCm39) V47L possibly damaging Het
Hapln4 C A 8: 70,539,520 (GRCm39) R184S possibly damaging Het
Hmcn1 C T 1: 150,506,054 (GRCm39) C3824Y probably damaging Het
Hrnr T C 3: 93,233,235 (GRCm39) S1158P unknown Het
Itln1 A G 1: 171,360,985 (GRCm39) S36P probably benign Het
Kcnh5 A C 12: 75,160,990 (GRCm39) I306S probably damaging Het
Kctd19 T A 8: 106,113,997 (GRCm39) M559L probably benign Het
Kif2a A G 13: 107,158,558 (GRCm39) I9T possibly damaging Het
Klra5 G A 6: 129,883,701 (GRCm39) T142I probably benign Het
Ldlrad3 A G 2: 101,785,423 (GRCm39) V184A probably damaging Het
Lrrc27 T C 7: 138,808,582 (GRCm39) probably benign Het
Mark1 A G 1: 184,646,817 (GRCm39) V340A probably benign Het
Mrps31 T C 8: 22,901,558 (GRCm39) V26A probably benign Het
Mtrr G A 13: 68,725,756 (GRCm39) L118F probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nbas G T 12: 13,350,203 (GRCm39) V285F possibly damaging Het
Nfrkb T C 9: 31,321,189 (GRCm39) L675P possibly damaging Het
Or10v9 T A 19: 11,832,910 (GRCm39) I136F possibly damaging Het
Or1q1 T A 2: 36,887,665 (GRCm39) V281E Het
Or5k15 T A 16: 58,709,771 (GRCm39) I271L probably benign Het
Phkg1 C T 5: 129,893,376 (GRCm39) W358* probably null Het
Plekhj1 A C 10: 80,633,494 (GRCm39) I51S possibly damaging Het
Prkg2 T C 5: 99,079,869 (GRCm39) *763W probably null Het
Rhobtb2 A G 14: 70,034,349 (GRCm39) F292S probably damaging Het
Rlf A T 4: 121,007,002 (GRCm39) C769* probably null Het
Rmi1 C A 13: 58,557,366 (GRCm39) D538E possibly damaging Het
Scn4a C T 11: 106,212,839 (GRCm39) V1389I probably benign Het
Serpinc1 A T 1: 160,821,101 (GRCm39) K183* probably null Het
Setd4 A T 16: 93,380,562 (GRCm39) M399K possibly damaging Het
Setx T C 2: 29,034,661 (GRCm39) M382T probably damaging Het
Slc6a9 A G 4: 117,721,210 (GRCm39) Y208C probably damaging Het
Slfn2 A T 11: 82,960,367 (GRCm39) K115N Het
Snrk A T 9: 121,966,427 (GRCm39) K117* probably null Het
Spata31 A G 13: 65,065,409 (GRCm39) Y38C possibly damaging Het
Stab2 T C 10: 86,793,704 (GRCm39) T464A probably damaging Het
Tagap1 C T 17: 7,224,327 (GRCm39) G123D probably benign Het
Tas2r136 T C 6: 132,754,948 (GRCm39) K60E possibly damaging Het
Tasor T C 14: 27,194,123 (GRCm39) S1108P probably benign Het
Tmem200b A C 4: 131,649,437 (GRCm39) Y119S probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Wwp2 T G 8: 108,278,959 (GRCm39) L578W probably damaging Het
Zfp53 T A 17: 21,728,745 (GRCm39) C259* 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
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
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'- TGAACGGCTGAGTGAATGCC -3'
(R):5'- GCTTTTCTCAACCTCAGAACAC -3'

Sequencing Primer
(F):5'- CTGAGTGAATGCCTCCTAGAAG -3'
(R):5'- GAACACAGCAGCTTGCCTG -3'
Posted On 2022-09-12