Incidental Mutation 'R0718:Plxnd1'
ID 63701
Institutional Source Beutler Lab
Gene Symbol Plxnd1
Ensembl Gene ENSMUSG00000030123
Gene Name plexin D1
Synonyms b2b553Clo, 6230425C21Rik, b2b1863Clo
MMRRC Submission 038900-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0718 (G1)
Quality Score 160
Status Validated
Chromosome 6
Chromosomal Location 115954811-115995005 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115966638 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 1202 (E1202D)
Ref Sequence ENSEMBL: ENSMUSP00000015511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511]
AlphaFold Q3UH93
Predicted Effect possibly damaging
Transcript: ENSMUST00000015511
AA Change: E1202D

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: E1202D

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
Meta Mutation Damage Score 0.0622 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (96/96)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A T 3: 95,679,608 (GRCm38) Y811N possibly damaging Het
Adrm1 T C 2: 180,175,147 (GRCm38) probably benign Het
Alms1 T A 6: 85,621,821 (GRCm38) S1210T probably benign Het
Ampd3 C T 7: 110,777,808 (GRCm38) P11L probably damaging Het
Arhgap5 A G 12: 52,516,507 (GRCm38) E87G possibly damaging Het
Armc5 C T 7: 128,240,070 (GRCm38) probably benign Het
Asic2 C G 11: 80,971,456 (GRCm38) probably benign Het
Asph A G 4: 9,514,683 (GRCm38) probably benign Het
Bicd2 T A 13: 49,377,875 (GRCm38) probably null Het
Brip1 A G 11: 86,143,305 (GRCm38) L530P possibly damaging Het
Bsn G T 9: 108,111,360 (GRCm38) probably benign Het
Btnl4 T A 17: 34,469,634 (GRCm38) H390L probably benign Het
Ccdc70 A C 8: 21,973,308 (GRCm38) K38T probably damaging Het
Ccni G A 5: 93,202,316 (GRCm38) P35S probably benign Het
Cdh17 A G 4: 11,810,451 (GRCm38) D714G possibly damaging Het
Cenpf A G 1: 189,653,984 (GRCm38) L2033P probably damaging Het
Cfap69 A T 5: 5,621,924 (GRCm38) M328K probably damaging Het
Cmah T G 13: 24,417,210 (GRCm38) probably null Het
Cog6 T C 3: 53,010,629 (GRCm38) T163A probably benign Het
Cyp2j8 G A 4: 96,501,196 (GRCm38) S130F probably benign Het
Dgki A G 6: 37,012,896 (GRCm38) V636A probably damaging Het
Dmkn T A 7: 30,764,786 (GRCm38) probably benign Het
Dnah6 A G 6: 73,035,293 (GRCm38) I3679T possibly damaging Het
Dsp A T 13: 38,196,764 (GRCm38) Y2495F possibly damaging Het
Exosc4 C T 15: 76,329,489 (GRCm38) A171V probably benign Het
Fbxw24 A G 9: 109,623,509 (GRCm38) probably benign Het
Flvcr1 A T 1: 191,025,582 (GRCm38) L171Q probably damaging Het
Fsd1 G T 17: 55,996,445 (GRCm38) probably null Het
Gm7732 A G 17: 21,129,844 (GRCm38) noncoding transcript Het
H2-K2 A C 17: 33,975,623 (GRCm38) noncoding transcript Het
Hgf A G 5: 16,593,859 (GRCm38) N295S probably damaging Het
Ift88 T A 14: 57,517,413 (GRCm38) D811E probably benign Het
Igsf9b T A 9: 27,323,361 (GRCm38) probably null Het
Immt T A 6: 71,863,172 (GRCm38) V311E probably damaging Het
Ipo11 T A 13: 106,919,611 (GRCm38) N51I possibly damaging Het
Isy1 T C 6: 87,819,176 (GRCm38) K260E probably damaging Het
Jchain T G 5: 88,526,202 (GRCm38) I28L probably benign Het
Jmjd1c T A 10: 67,218,946 (GRCm38) probably null Het
Kif13b T C 14: 64,751,662 (GRCm38) probably benign Het
Klhdc7b T C 15: 89,388,169 (GRCm38) Y427H possibly damaging Het
Klhl8 T C 5: 103,876,293 (GRCm38) probably benign Het
Lrp2 C T 2: 69,510,948 (GRCm38) D963N probably damaging Het
Ltbp3 G T 19: 5,746,748 (GRCm38) probably benign Het
Ltf C A 9: 111,040,379 (GRCm38) Q41K probably benign Het
Med4 T A 14: 73,516,657 (GRCm38) I148N probably damaging Het
Mlh3 T G 12: 85,247,697 (GRCm38) S1242R possibly damaging Het
Mllt6 T C 11: 97,676,359 (GRCm38) probably benign Het
Mpdz A G 4: 81,292,473 (GRCm38) I1712T possibly damaging Het
Mrgprb4 T A 7: 48,198,553 (GRCm38) H209L probably benign Het
Nkapl A T 13: 21,468,440 (GRCm38) M1K probably null Het
Nmur2 T A 11: 56,029,498 (GRCm38) probably benign Het
Nsun2 T A 13: 69,543,697 (GRCm38) probably benign Het
Olfr1082 G A 2: 86,594,081 (GRCm38) T249I probably benign Het
Olfr1130 A G 2: 87,607,927 (GRCm38) I180V probably benign Het
Ovgp1 T C 3: 105,974,830 (GRCm38) probably benign Het
Pcdh8 A G 14: 79,770,691 (GRCm38) V144A possibly damaging Het
Pcnx3 G A 19: 5,677,728 (GRCm38) probably benign Het
Pla2r1 C A 2: 60,479,530 (GRCm38) V570L possibly damaging Het
Ppp1r37 T C 7: 19,532,254 (GRCm38) E529G probably benign Het
Prdm15 A G 16: 97,812,633 (GRCm38) F496L possibly damaging Het
Prlhr A T 19: 60,468,005 (GRCm38) V41D probably benign Het
Prlhr G T 19: 60,468,059 (GRCm38) S23* probably null Het
Prpf4 C T 4: 62,414,540 (GRCm38) probably benign Het
Psg26 T C 7: 18,478,287 (GRCm38) H381R probably benign Het
Psg26 C T 7: 18,475,235 (GRCm38) R416H probably benign Het
Ralgds T G 2: 28,549,116 (GRCm38) M717R probably benign Het
Rbms1 T C 2: 60,842,412 (GRCm38) N44D probably damaging Het
Rpa1 T C 11: 75,318,401 (GRCm38) probably benign Het
Rprd2 T C 3: 95,766,387 (GRCm38) N568S probably benign Het
Rptor A G 11: 119,872,376 (GRCm38) M929V probably benign Het
Rspo1 T A 4: 125,007,149 (GRCm38) C97S possibly damaging Het
Scin C T 12: 40,079,607 (GRCm38) G396S probably damaging Het
Scn9a T C 2: 66,547,112 (GRCm38) N409D probably damaging Het
Sf3b1 A G 1: 55,019,385 (GRCm38) I15T probably damaging Het
Sh3bp2 T C 5: 34,555,495 (GRCm38) V149A probably damaging Het
Slc39a12 T A 2: 14,407,426 (GRCm38) probably benign Het
Sp9 G T 2: 73,273,827 (GRCm38) A242S possibly damaging Het
Srr A G 11: 74,911,065 (GRCm38) V126A possibly damaging Het
Tatdn3 G T 1: 191,052,849 (GRCm38) probably benign Het
Tex14 G A 11: 87,499,613 (GRCm38) V379I probably benign Het
Tmed6 T C 8: 107,061,724 (GRCm38) N197S probably damaging Het
Ttbk2 G A 2: 120,748,575 (GRCm38) L689F probably benign Het
Ttbk2 A T 2: 120,745,160 (GRCm38) I1043N probably benign Het
Ttn A G 2: 76,810,696 (GRCm38) S5283P probably damaging Het
Ube3b C A 5: 114,402,555 (GRCm38) S441* probably null Het
Ush2a G A 1: 188,797,830 (GRCm38) C3272Y probably damaging Het
Vac14 T A 8: 110,632,477 (GRCm38) I95K probably damaging Het
Vangl2 G A 1: 172,006,217 (GRCm38) A433V probably damaging Het
Vwa5b1 A T 4: 138,608,824 (GRCm38) V153D probably damaging Het
Zfhx3 T A 8: 108,955,650 (GRCm38) D3240E unknown Het
Zfp945 A G 17: 22,851,030 (GRCm38) C632R probably damaging Het
Zfyve26 G A 12: 79,265,802 (GRCm38) probably benign Het
Zyg11b A T 4: 108,242,076 (GRCm38) I606N possibly 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
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
R6254:Plxnd1 UTSW 6 115,977,960 (GRCm38) missense probably benign 0.01
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'- AGCGATTTCTGTACCCAGAAGCCG -3'
(R):5'- CTGCAAGGTTCTCAACTCCACACTC -3'

Sequencing Primer
(F):5'- TGAGCAGTGGATGACTCTGT -3'
(R):5'- AGCCCTGAGCAATGCTTC -3'
Posted On 2013-07-30