Incidental Mutation 'R6254:Plxnd1'
ID 505974
Institutional Source Beutler Lab
Gene Symbol Plxnd1
Ensembl Gene ENSMUSG00000030123
Gene Name plexin D1
Synonyms b2b553Clo, 6230425C21Rik, b2b1863Clo
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6254 (G1)
Quality Score 178.009
Status Validated
Chromosome 6
Chromosomal Location 115954811-115995005 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115977960 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 614 (V614M)
Ref Sequence ENSEMBL: ENSMUSP00000015511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511]
AlphaFold Q3UH93
Predicted Effect probably benign
Transcript: ENSMUST00000015511
AA Change: V614M

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: V614M

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,489,570 (GRCm38) L2F probably damaging Het
Ank2 T A 3: 126,941,804 (GRCm38) probably benign Het
Anpep T G 7: 79,839,233 (GRCm38) D369A probably damaging Het
App T C 16: 84,978,177 (GRCm38) E599G probably damaging Het
Asphd1 C T 7: 126,948,868 (GRCm38) V88I probably benign Het
Atad5 A T 11: 80,127,389 (GRCm38) I1389F probably damaging Het
Blm T C 7: 80,480,342 (GRCm38) N950S probably benign Het
Bsn A T 9: 108,111,866 (GRCm38) M2229K probably damaging Het
Cacna2d2 A G 9: 107,509,216 (GRCm38) M181V probably benign Het
Cadps2 T A 6: 23,329,163 (GRCm38) probably null Het
Cdh1 T A 8: 106,663,798 (GRCm38) V590D probably damaging Het
Cdk5rap2 G A 4: 70,364,032 (GRCm38) T160M probably damaging Het
Cfap97d2 A G 8: 13,706,043 (GRCm38) D26G possibly damaging Het
Cfhr4 A G 1: 139,754,390 (GRCm38) I156T probably damaging Het
Chrna5 A G 9: 55,006,456 (GRCm38) M325V probably benign Het
Clca3a2 A G 3: 144,802,134 (GRCm38) I116T probably benign Het
Cyp2c23 T C 19: 44,005,463 (GRCm38) K488R probably benign Het
Edil3 T A 13: 89,319,729 (GRCm38) I451N probably damaging Het
Exph5 T G 9: 53,372,710 (GRCm38) S364A possibly damaging Het
Fam98c A G 7: 29,154,517 (GRCm38) S209P probably damaging Het
Fat3 G A 9: 15,996,145 (GRCm38) L2854F probably benign Het
Fbxo38 T C 18: 62,505,500 (GRCm38) probably null Het
Fermt2 T C 14: 45,476,059 (GRCm38) D205G probably damaging Het
Fmnl1 G A 11: 103,196,315 (GRCm38) probably benign Het
Fn3k A G 11: 121,435,068 (GRCm38) E27G probably damaging Het
Foxj2 A G 6: 122,838,139 (GRCm38) H378R probably damaging Het
Fubp1 A G 3: 152,232,408 (GRCm38) K140E possibly damaging Het
Gm7694 A T 1: 170,302,534 (GRCm38) C98* probably null Het
Golgb1 T C 16: 36,913,978 (GRCm38) S1196P probably damaging Het
Gpm6a G A 8: 55,047,396 (GRCm38) probably null Het
Hltf T A 3: 20,063,829 (GRCm38) N80K possibly damaging Het
Il1rap G A 16: 26,695,270 (GRCm38) R251H probably benign Het
Ipo7 T A 7: 110,049,060 (GRCm38) D688E probably benign Het
Itgal T A 7: 127,325,203 (GRCm38) N897K probably damaging Het
Itsn2 A G 12: 4,624,982 (GRCm38) probably null Het
Kcnk13 A G 12: 99,965,372 (GRCm38) probably benign Het
Kdm7a A G 6: 39,170,269 (GRCm38) L248P probably damaging Het
Kmt2c T C 5: 25,349,874 (GRCm38) E1254G possibly damaging Het
Ldah G A 12: 8,275,912 (GRCm38) probably benign Het
Lingo1 T A 9: 56,620,087 (GRCm38) D406V possibly damaging Het
Lratd2 A G 15: 60,823,801 (GRCm38) I32T probably damaging Het
Lrriq1 A T 10: 103,215,451 (GRCm38) V480E probably benign Het
Mtcl1 C T 17: 66,358,134 (GRCm38) R1142H probably benign Het
Mtmr3 G A 11: 4,497,381 (GRCm38) Q360* probably null Het
Muc6 T C 7: 141,651,115 (GRCm38) N252S probably benign Het
Naa20 T C 2: 145,903,320 (GRCm38) L4P probably damaging Het
Neb T A 2: 52,222,961 (GRCm38) I4274L probably benign Het
Noa1 A T 5: 77,309,669 (GRCm38) F130I probably benign Het
Nrg4 G T 9: 55,236,512 (GRCm38) H87N possibly damaging Het
Or51ai2 T A 7: 103,937,534 (GRCm38) H51Q probably benign Het
Or5m12 T A 2: 85,904,505 (GRCm38) Y183F probably damaging Het
P3h3 C T 6: 124,845,601 (GRCm38) E536K probably damaging Het
Pcdhb11 T C 18: 37,421,718 (GRCm38) S34P probably damaging Het
Pik3r1 T C 13: 101,689,406 (GRCm38) T71A possibly damaging Het
Plaur T A 7: 24,466,800 (GRCm38) C99S possibly damaging Het
Plekha5 G A 6: 140,586,436 (GRCm38) G501E probably damaging Het
Ppp2r3a T C 9: 101,148,587 (GRCm38) D307G possibly damaging Het
Prl3d3 C T 13: 27,157,470 (GRCm38) S28F possibly damaging Het
Prpf40a T C 2: 53,157,915 (GRCm38) M197V probably benign Het
Ptk7 C A 17: 46,572,642 (GRCm38) Q832H probably damaging Het
Qser1 T C 2: 104,790,090 (GRCm38) S126G probably benign Het
Rab3ip A T 10: 116,915,867 (GRCm38) C332S probably damaging Het
Raly C A 2: 154,857,366 (GRCm38) T30K probably damaging Het
Rbp2 G T 9: 98,490,647 (GRCm38) S13I probably benign Het
Rps6ka1 C T 4: 133,867,224 (GRCm38) M159I possibly damaging Het
Rufy3 C T 5: 88,584,309 (GRCm38) T57I probably benign Het
Samd4 A G 14: 47,016,631 (GRCm38) D184G probably damaging Het
Slc35f3 T C 8: 126,321,094 (GRCm38) C58R possibly damaging Het
Smarca4 T C 9: 21,699,877 (GRCm38) I1467T probably damaging Het
Spag17 T G 3: 100,065,585 (GRCm38) I1371S probably benign Het
Sptan1 T C 2: 30,007,549 (GRCm38) L1228P possibly damaging Het
Stk31 C T 6: 49,421,697 (GRCm38) A344V probably benign Het
Supt16 A G 14: 52,170,834 (GRCm38) W885R probably damaging Het
Tdrd9 T A 12: 112,025,900 (GRCm38) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm38) probably null Het
Tnfsf13 A C 11: 69,684,483 (GRCm38) probably null Het
Trim75 C A 8: 64,983,442 (GRCm38) E119* probably null Het
Wdr6 T C 9: 108,574,911 (GRCm38) Y591C probably damaging Het
Wdr86 C T 5: 24,718,283 (GRCm38) R137H probably benign Het
Ythdf1 T A 2: 180,911,150 (GRCm38) Y424F probably damaging Het
Zfp984 G T 4: 147,756,186 (GRCm38) S69R possibly damaging Het
Zyg11a A G 4: 108,181,794 (GRCm38) F743L probably damaging Het
Other mutations in Plxnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Plxnd1 APN 6 115,967,972 (GRCm38) missense possibly damaging 0.51
IGL01099:Plxnd1 APN 6 115,969,945 (GRCm38) missense probably benign
IGL01323:Plxnd1 APN 6 115,966,799 (GRCm38) missense possibly damaging 0.81
IGL01382:Plxnd1 APN 6 115,960,527 (GRCm38) missense probably damaging 1.00
IGL01786:Plxnd1 APN 6 115,959,935 (GRCm38) missense probably damaging 1.00
IGL02244:Plxnd1 APN 6 115,978,257 (GRCm38) missense probably benign 0.39
IGL02272:Plxnd1 APN 6 115,993,628 (GRCm38) missense probably damaging 1.00
IGL02293:Plxnd1 APN 6 115,963,913 (GRCm38) missense probably damaging 1.00
IGL02465:Plxnd1 APN 6 115,955,742 (GRCm38) makesense probably null
IGL02873:Plxnd1 APN 6 115,959,976 (GRCm38) missense probably damaging 1.00
IGL03209:Plxnd1 APN 6 115,962,357 (GRCm38) missense probably damaging 1.00
Hiss UTSW 6 115,969,929 (GRCm38) missense possibly damaging 0.94
murmer UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
mutter UTSW 6 115,968,044 (GRCm38) missense probably benign 0.27
rattle UTSW 6 115,959,794 (GRCm38) missense probably damaging 0.96
R0238:Plxnd1 UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
R0238:Plxnd1 UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
R0239:Plxnd1 UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
R0239:Plxnd1 UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
R0357:Plxnd1 UTSW 6 115,969,460 (GRCm38) missense probably benign 0.00
R0646:Plxnd1 UTSW 6 115,958,699 (GRCm38) splice site probably benign
R0648:Plxnd1 UTSW 6 115,994,001 (GRCm38) missense possibly damaging 0.86
R0718:Plxnd1 UTSW 6 115,966,638 (GRCm38) missense possibly damaging 0.68
R1116:Plxnd1 UTSW 6 115,967,005 (GRCm38) splice site probably null
R1292:Plxnd1 UTSW 6 115,962,683 (GRCm38) unclassified probably benign
R1715:Plxnd1 UTSW 6 115,968,681 (GRCm38) missense probably benign 0.02
R1760:Plxnd1 UTSW 6 115,967,779 (GRCm38) missense possibly damaging 0.95
R1799:Plxnd1 UTSW 6 115,994,057 (GRCm38) missense probably damaging 1.00
R1817:Plxnd1 UTSW 6 115,980,601 (GRCm38) missense possibly damaging 0.83
R1848:Plxnd1 UTSW 6 115,966,546 (GRCm38) missense probably damaging 1.00
R1851:Plxnd1 UTSW 6 115,963,914 (GRCm38) missense probably damaging 1.00
R1864:Plxnd1 UTSW 6 115,969,441 (GRCm38) splice site probably null
R1865:Plxnd1 UTSW 6 115,969,441 (GRCm38) splice site probably null
R1875:Plxnd1 UTSW 6 115,978,084 (GRCm38) splice site probably null
R1899:Plxnd1 UTSW 6 115,969,363 (GRCm38) missense probably benign
R1913:Plxnd1 UTSW 6 115,978,017 (GRCm38) missense possibly damaging 0.50
R1970:Plxnd1 UTSW 6 115,962,517 (GRCm38) missense probably damaging 1.00
R2007:Plxnd1 UTSW 6 115,967,255 (GRCm38) missense probably damaging 1.00
R2134:Plxnd1 UTSW 6 115,957,548 (GRCm38) missense probably damaging 1.00
R2202:Plxnd1 UTSW 6 115,962,764 (GRCm38) missense probably benign 0.45
R2230:Plxnd1 UTSW 6 115,964,144 (GRCm38) missense probably damaging 1.00
R2267:Plxnd1 UTSW 6 115,962,743 (GRCm38) missense probably benign 0.29
R2427:Plxnd1 UTSW 6 115,967,748 (GRCm38) critical splice donor site probably null
R4108:Plxnd1 UTSW 6 115,959,315 (GRCm38) missense probably damaging 1.00
R4233:Plxnd1 UTSW 6 115,965,953 (GRCm38) missense probably benign 0.30
R4280:Plxnd1 UTSW 6 115,956,095 (GRCm38) splice site probably null
R4280:Plxnd1 UTSW 6 115,956,094 (GRCm38) splice site probably benign
R4346:Plxnd1 UTSW 6 115,977,980 (GRCm38) missense probably benign 0.16
R4439:Plxnd1 UTSW 6 115,993,976 (GRCm38) missense probably damaging 0.99
R4572:Plxnd1 UTSW 6 115,955,756 (GRCm38) missense probably damaging 1.00
R4576:Plxnd1 UTSW 6 115,968,044 (GRCm38) missense probably benign 0.27
R4599:Plxnd1 UTSW 6 115,994,276 (GRCm38) missense probably damaging 1.00
R4614:Plxnd1 UTSW 6 115,972,525 (GRCm38) missense possibly damaging 0.83
R4700:Plxnd1 UTSW 6 115,958,615 (GRCm38) missense probably damaging 1.00
R4705:Plxnd1 UTSW 6 115,958,620 (GRCm38) missense probably damaging 1.00
R4806:Plxnd1 UTSW 6 115,960,855 (GRCm38) missense probably damaging 1.00
R4944:Plxnd1 UTSW 6 115,955,765 (GRCm38) missense probably damaging 1.00
R4977:Plxnd1 UTSW 6 115,994,376 (GRCm38) missense probably damaging 1.00
R5069:Plxnd1 UTSW 6 115,965,901 (GRCm38) missense probably damaging 0.98
R5155:Plxnd1 UTSW 6 115,958,988 (GRCm38) critical splice donor site probably null
R5460:Plxnd1 UTSW 6 115,957,648 (GRCm38) missense probably damaging 1.00
R5729:Plxnd1 UTSW 6 115,965,877 (GRCm38) missense probably damaging 1.00
R5909:Plxnd1 UTSW 6 115,968,688 (GRCm38) missense probably benign 0.00
R5992:Plxnd1 UTSW 6 115,967,787 (GRCm38) critical splice acceptor site probably null
R6129:Plxnd1 UTSW 6 115,978,174 (GRCm38) missense probably damaging 1.00
R6273:Plxnd1 UTSW 6 115,978,492 (GRCm38) missense probably damaging 1.00
R6310:Plxnd1 UTSW 6 115,976,736 (GRCm38) missense possibly damaging 0.94
R6732:Plxnd1 UTSW 6 115,969,929 (GRCm38) missense possibly damaging 0.94
R6857:Plxnd1 UTSW 6 115,993,763 (GRCm38) missense probably benign 0.05
R7243:Plxnd1 UTSW 6 115,972,507 (GRCm38) missense probably benign 0.00
R7282:Plxnd1 UTSW 6 115,960,837 (GRCm38) missense probably damaging 1.00
R7632:Plxnd1 UTSW 6 115,976,639 (GRCm38) missense probably benign
R7699:Plxnd1 UTSW 6 115,959,794 (GRCm38) missense probably damaging 0.96
R7915:Plxnd1 UTSW 6 115,966,918 (GRCm38) missense probably benign 0.00
R8090:Plxnd1 UTSW 6 115,956,617 (GRCm38) missense probably damaging 1.00
R8382:Plxnd1 UTSW 6 115,972,472 (GRCm38) missense probably benign
R8507:Plxnd1 UTSW 6 115,966,905 (GRCm38) missense probably damaging 0.97
R8539:Plxnd1 UTSW 6 115,962,807 (GRCm38) missense possibly damaging 0.94
R8548:Plxnd1 UTSW 6 115,957,597 (GRCm38) missense probably damaging 1.00
R8963:Plxnd1 UTSW 6 115,972,545 (GRCm38) nonsense probably null
R9119:Plxnd1 UTSW 6 115,955,871 (GRCm38) splice site probably benign
R9177:Plxnd1 UTSW 6 115,966,508 (GRCm38) missense probably benign 0.00
R9182:Plxnd1 UTSW 6 115,993,785 (GRCm38) missense probably damaging 0.98
R9185:Plxnd1 UTSW 6 115,957,565 (GRCm38) missense probably damaging 1.00
R9226:Plxnd1 UTSW 6 115,957,563 (GRCm38) missense probably damaging 1.00
R9433:Plxnd1 UTSW 6 115,968,793 (GRCm38) missense probably benign 0.00
R9449:Plxnd1 UTSW 6 115,955,769 (GRCm38) missense probably damaging 1.00
R9451:Plxnd1 UTSW 6 115,963,316 (GRCm38) missense possibly damaging 0.72
R9599:Plxnd1 UTSW 6 115,963,313 (GRCm38) missense possibly damaging 0.78
R9627:Plxnd1 UTSW 6 115,963,313 (GRCm38) missense possibly damaging 0.78
R9644:Plxnd1 UTSW 6 115,963,313 (GRCm38) missense possibly damaging 0.78
R9672:Plxnd1 UTSW 6 115,963,313 (GRCm38) missense possibly damaging 0.78
X0024:Plxnd1 UTSW 6 115,963,310 (GRCm38) missense probably benign 0.02
X0026:Plxnd1 UTSW 6 115,966,784 (GRCm38) missense possibly damaging 0.88
Z1088:Plxnd1 UTSW 6 115,967,510 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCATGGTCCTAACTGTTGACTAGG -3'
(R):5'- CTACTGTGGTTGGTGCACTC -3'

Sequencing Primer
(F):5'- CCTAACTGTTGACTAGGTCTTGCAAG -3'
(R):5'- TTGGTGCACTCTGGAGACC -3'
Posted On 2018-02-28