Incidental Mutation 'R0239:Plxnd1'
ID 37196
Institutional Source Beutler Lab
Gene Symbol Plxnd1
Ensembl Gene ENSMUSG00000030123
Gene Name plexin D1
Synonyms b2b553Clo, 6230425C21Rik, b2b1863Clo
MMRRC Submission 038477-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0239 (G1)
Quality Score 218
Status Not validated
Chromosome 6
Chromosomal Location 115954811-115995005 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115968793 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 906 (D906E)
Ref Sequence ENSEMBL: ENSMUSP00000015511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511]
AlphaFold Q3UH93
Predicted Effect probably benign
Transcript: ENSMUST00000015511
AA Change: D906E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: D906E

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
SMART Domains Protein: ENSMUSP00000115650
Gene: ENSMUSG00000030123
AA Change: D48E

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 0.0964 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.9%
Validation Efficiency 100% (3/3)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik TTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCC 3: 138,065,834 (GRCm38) probably benign Het
Adra1d C A 2: 131,546,214 (GRCm38) V474F probably benign Het
Alg8 A T 7: 97,383,684 (GRCm38) probably null Het
Ash1l A G 3: 89,067,222 (GRCm38) D2618G possibly damaging Het
Atp6v1c2 C A 12: 17,294,675 (GRCm38) probably null Het
Cacna1d A G 14: 30,123,496 (GRCm38) V572A probably benign Het
Camta1 A G 4: 151,143,730 (GRCm38) W882R probably damaging Het
Cd72 A G 4: 43,453,163 (GRCm38) V91A probably benign Het
Cdh12 T C 15: 21,586,407 (GRCm38) W771R probably damaging Het
Cdx2 G T 5: 147,303,287 (GRCm38) T193K probably damaging Het
Cfap70 A C 14: 20,448,605 (GRCm38) S5A probably benign Het
Chmp7 A G 14: 69,720,997 (GRCm38) V241A probably damaging Het
D3Ertd751e A G 3: 41,753,878 (GRCm38) Y150C probably damaging Het
Depdc5 T C 5: 32,943,240 (GRCm38) S832P probably damaging Het
Dnhd1 A G 7: 105,721,531 (GRCm38) S4673G probably benign Het
Dock4 G T 12: 40,737,540 (GRCm38) S818I probably damaging Het
Dysf C T 6: 84,064,479 (GRCm38) Q156* probably null Het
Espnl T C 1: 91,322,287 (GRCm38) V52A probably damaging Het
Flcn T C 11: 59,801,076 (GRCm38) N249S probably benign Het
Gemin6 C A 17: 80,225,710 (GRCm38) A24D probably damaging Het
Gm5773 A G 3: 93,774,032 (GRCm38) H337R probably benign Het
Gm9733 A G 3: 15,296,601 (GRCm38) L163P probably damaging Het
Hal T C 10: 93,503,482 (GRCm38) S478P possibly damaging Het
Hectd1 T A 12: 51,769,318 (GRCm38) M1324L possibly damaging Het
Hyal5 T A 6: 24,876,344 (GRCm38) L72Q probably damaging Het
Ift140 C A 17: 25,045,523 (GRCm38) C557* probably null Het
Ikbkap C A 4: 56,784,596 (GRCm38) V466L probably benign Het
Kbtbd3 G T 9: 4,330,144 (GRCm38) V173L possibly damaging Het
Kif14 A G 1: 136,527,393 (GRCm38) E1551G probably damaging Het
Krt17 G A 11: 100,260,878 (GRCm38) R30* probably null Het
Lamb3 A T 1: 193,321,053 (GRCm38) D100V probably damaging Het
Map2 A G 1: 66,416,106 (GRCm38) D1385G probably damaging Het
Mettl25 C T 10: 105,826,525 (GRCm38) V195I probably damaging Het
Myh8 A G 11: 67,301,692 (GRCm38) T1466A probably benign Het
Myo3b T A 2: 70,105,425 (GRCm38) C61S probably benign Het
Nacc2 T G 2: 26,062,261 (GRCm38) N361T probably damaging Het
Nf1 A T 11: 79,418,574 (GRCm38) K438M possibly damaging Het
Nipal4 A G 11: 46,150,441 (GRCm38) V309A possibly damaging Het
Nomo1 T C 7: 46,079,594 (GRCm38) probably null Het
Nubp2 T C 17: 24,884,471 (GRCm38) E144G probably damaging Het
Nwd2 A T 5: 63,800,124 (GRCm38) I266F probably benign Het
Olfr1126 T C 2: 87,458,037 (GRCm38) F291L probably benign Het
Olfr593 G A 7: 103,212,726 (GRCm38) V289M possibly damaging Het
Olfr694 A G 7: 106,689,255 (GRCm38) Y159H probably benign Het
Orc1 T C 4: 108,595,646 (GRCm38) probably null Het
Otogl T A 10: 107,806,696 (GRCm38) N1291I probably damaging Het
Pah C T 10: 87,567,281 (GRCm38) P173S possibly damaging Het
Pga5 A G 19: 10,669,453 (GRCm38) Y305H probably damaging Het
Plekha4 A G 7: 45,532,358 (GRCm38) H62R probably damaging Het
Ppfia4 T C 1: 134,329,189 (GRCm38) E98G possibly damaging Het
Ptk2 A T 15: 73,343,283 (GRCm38) probably null Het
Raet1e C A 10: 22,180,862 (GRCm38) H112Q possibly damaging Het
Scai T A 2: 39,075,042 (GRCm38) I597F probably benign Het
Slc35c2 C T 2: 165,280,837 (GRCm38) G176S probably damaging Het
Slc35f4 A T 14: 49,304,256 (GRCm38) I347N possibly damaging Het
Slc52a3 T C 2: 152,008,156 (GRCm38) *461Q probably null Het
Slc6a1 G A 6: 114,302,800 (GRCm38) V142I probably benign Het
Tbc1d31 C A 15: 57,940,753 (GRCm38) T388N probably benign Het
Tmem63c T C 12: 87,075,639 (GRCm38) W404R probably damaging Het
Tmem79 A G 3: 88,333,321 (GRCm38) S107P probably benign Het
Trip11 C T 12: 101,884,728 (GRCm38) E741K probably damaging Het
Trpm5 G T 7: 143,082,958 (GRCm38) T414N probably damaging Het
Tsnaxip1 T A 8: 105,844,488 (GRCm38) I660N possibly damaging Het
Ube2q2 T C 9: 55,163,007 (GRCm38) S78P probably damaging Het
Vac14 A T 8: 110,635,375 (GRCm38) probably null Het
Vps51 G T 19: 6,071,437 (GRCm38) S185* probably null Het
Zfp11 C T 5: 129,658,238 (GRCm38) G53E possibly damaging Het
Zfp532 A T 18: 65,682,985 (GRCm38) I810F possibly damaging Het
Zfp599 C T 9: 22,249,759 (GRCm38) C370Y 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
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
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'- TTGGCAATGCCTGACACTCACTC -3'
(R):5'- AGCAGCTCAGCAGCCTGATTTG -3'

Sequencing Primer
(F):5'- ACTCCTCTGAAACGGTGTATCTG -3'
(R):5'- cccacccttagcccagtc -3'
Posted On 2013-05-09