Incidental Mutation 'IGL01700:Plxdc2'
ID104452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plxdc2
Ensembl Gene ENSMUSG00000026748
Gene Nameplexin domain containing 2
Synonyms5430431D22Rik, 1200007L24Rik, Tem7r
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01700
Quality Score
Status
Chromosome2
Chromosomal Location16356304-16755839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 16512115 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 69 (V69A)
Ref Sequence ENSEMBL: ENSMUSP00000110350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028081] [ENSMUST00000114702] [ENSMUST00000114703]
Predicted Effect probably benign
Transcript: ENSMUST00000028081
AA Change: V69A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028081
Gene: ENSMUSG00000026748
AA Change: V69A

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
PSI 327 372 1.52e-3 SMART
low complexity region 390 401 N/A INTRINSIC
transmembrane domain 455 477 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114702
AA Change: V69A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000110350
Gene: ENSMUSG00000026748
AA Change: V69A

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
PSI 327 372 1.52e-3 SMART
low complexity region 388 399 N/A INTRINSIC
transmembrane domain 453 475 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114703
AA Change: V69A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110351
Gene: ENSMUSG00000026748
AA Change: V69A

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
PSI 278 323 1.52e-3 SMART
low complexity region 339 350 N/A INTRINSIC
transmembrane domain 404 426 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a hypomorphic reporter allele are viable and behaviorally normal with no apparent abnormalities in the developing and mature nervous system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,280,390 M1778L probably benign Het
Aldh6a1 C T 12: 84,439,538 C202Y probably damaging Het
Ankrd36 A G 11: 5,632,198 T276A probably benign Het
Ankrd55 T C 13: 112,381,168 I556T probably benign Het
Aqp4 A G 18: 15,399,865 I57T probably benign Het
Atp1a1 T C 3: 101,594,258 D43G possibly damaging Het
Cyld G A 8: 88,707,099 R172H probably damaging Het
Diexf G A 1: 193,118,265 P416S probably damaging Het
Ear2 A T 14: 44,103,259 R125* probably null Het
Efcab9 T C 11: 32,527,451 R24G probably damaging Het
F7 C A 8: 13,028,685 Q39K probably benign Het
Galntl6 A T 8: 57,958,460 probably benign Het
Kcnj5 A G 9: 32,322,629 V130A probably damaging Het
Magee2 A G X: 104,855,968 I359T possibly damaging Het
Myh1 T G 11: 67,211,412 I843S probably damaging Het
Nfat5 T A 8: 107,339,130 M98K probably damaging Het
Nrip3 T A 7: 109,761,867 N200I possibly damaging Het
Olfr818 A T 10: 129,945,941 N40K probably damaging Het
Phkb A T 8: 86,017,465 Q581L probably benign Het
Pou3f1 G T 4: 124,658,857 W384L probably damaging Het
Prrc2a G A 17: 35,150,667 S1890L possibly damaging Het
Psmc1 C A 12: 100,113,078 P27H probably damaging Het
Pvr C A 7: 19,909,232 A359S probably benign Het
Rasal1 A T 5: 120,676,817 I711F probably benign Het
Ror1 C T 4: 100,409,771 A223V probably damaging Het
Slc22a16 A T 10: 40,603,908 I638L unknown Het
Slfn10-ps C T 11: 83,029,112 noncoding transcript Het
Sptbn4 A G 7: 27,404,268 L1176P probably damaging Het
Usp21 A T 1: 171,283,402 F421I probably damaging Het
Vmn1r61 T A 7: 5,611,203 R37S possibly damaging Het
Vps13a G A 19: 16,744,857 R364* probably null Het
Vps29 A G 5: 122,362,867 Y165C probably damaging Het
Wdfy4 T C 14: 33,020,238 probably benign Het
Wdr24 A G 17: 25,825,828 D219G probably damaging Het
Xpo1 T C 11: 23,276,422 probably benign Het
Zfp831 C A 2: 174,644,918 T462K possibly damaging Het
Zswim5 T C 4: 116,986,461 probably benign Het
Other mutations in Plxdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Plxdc2 APN 2 16650139 missense probably damaging 1.00
IGL02306:Plxdc2 APN 2 16660774 missense probably benign 0.06
IGL02555:Plxdc2 APN 2 16729341 missense probably benign 0.02
IGL02558:Plxdc2 APN 2 16669598 splice site probably benign
IGL03031:Plxdc2 APN 2 16650232 splice site probably null
IGL03114:Plxdc2 APN 2 16650124 missense probably damaging 1.00
R1024:Plxdc2 UTSW 2 16712106 missense probably benign 0.00
R1449:Plxdc2 UTSW 2 16660781 missense possibly damaging 0.82
R1840:Plxdc2 UTSW 2 16669856 missense probably benign 0.11
R2091:Plxdc2 UTSW 2 16713683 missense probably damaging 1.00
R2129:Plxdc2 UTSW 2 16512091 missense probably benign
R2192:Plxdc2 UTSW 2 16565336 missense probably damaging 0.99
R2287:Plxdc2 UTSW 2 16512190 missense probably benign 0.00
R2567:Plxdc2 UTSW 2 16712184 missense probably benign 0.00
R3964:Plxdc2 UTSW 2 16660840 missense probably damaging 0.98
R4167:Plxdc2 UTSW 2 16565385 missense probably damaging 0.99
R4496:Plxdc2 UTSW 2 16512229 missense probably damaging 1.00
R4876:Plxdc2 UTSW 2 16703318 missense probably damaging 1.00
R4891:Plxdc2 UTSW 2 16712146 missense probably benign
R5238:Plxdc2 UTSW 2 16650215 missense probably damaging 1.00
R5389:Plxdc2 UTSW 2 16650187 missense probably damaging 1.00
R5984:Plxdc2 UTSW 2 16660855 missense probably benign 0.28
R6675:Plxdc2 UTSW 2 16712121 missense probably benign
R6751:Plxdc2 UTSW 2 16548141 missense probably benign 0.14
R7676:Plxdc2 UTSW 2 16712083 missense probably benign 0.01
R7757:Plxdc2 UTSW 2 16729376 missense probably benign 0.37
R7813:Plxdc2 UTSW 2 16660867 missense possibly damaging 0.56
R7919:Plxdc2 UTSW 2 16548225 missense probably damaging 0.98
Z1176:Plxdc2 UTSW 2 16565403 missense possibly damaging 0.82
Posted On2014-01-21