Incidental Mutation 'R4167:Plxdc2'
ID 320612
Institutional Source Beutler Lab
Gene Symbol Plxdc2
Ensembl Gene ENSMUSG00000026748
Gene Name plexin domain containing 2
Synonyms 1200007L24Rik, Tem7r, 5430431D22Rik
MMRRC Submission 041008-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4167 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 16361115-16760650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16570196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 125 (E125G)
Ref Sequence ENSEMBL: ENSMUSP00000110351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028081] [ENSMUST00000114702] [ENSMUST00000114703]
AlphaFold Q9DC11
Predicted Effect possibly damaging
Transcript: ENSMUST00000028081
AA Change: E174G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028081
Gene: ENSMUSG00000026748
AA Change: E174G

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 possibly damaging
Transcript: ENSMUST00000114702
AA Change: E174G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110350
Gene: ENSMUSG00000026748
AA Change: E174G

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 damaging
Transcript: ENSMUST00000114703
AA Change: E125G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110351
Gene: ENSMUSG00000026748
AA Change: E125G

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
Meta Mutation Damage Score 0.2081 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 94% (31/33)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Casp6 A G 3: 129,706,993 (GRCm39) H201R probably damaging Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Cdh16 A G 8: 105,344,362 (GRCm39) L59P probably benign Het
Dcp2 T A 18: 44,529,034 (GRCm39) Y50N probably damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fam78b T C 1: 166,829,301 (GRCm39) V51A possibly damaging Het
Gabrb2 A T 11: 42,312,155 (GRCm39) probably benign Het
Glyctk G T 9: 106,034,961 (GRCm39) A35E probably benign Het
Kat14 A G 2: 144,236,030 (GRCm39) E254G probably damaging Het
Kcng1 T A 2: 168,104,617 (GRCm39) S410C probably damaging Het
Krt74 A G 15: 101,667,304 (GRCm39) noncoding transcript Het
Lrp12 T C 15: 39,748,409 (GRCm39) T70A probably damaging Het
Man2c1 A G 9: 57,045,310 (GRCm39) D473G probably benign Het
Mindy4 G A 6: 55,201,331 (GRCm39) G339S possibly damaging Het
Naip1 C T 13: 100,580,794 (GRCm39) G151D probably benign Het
Ndufaf7 G A 17: 79,252,415 (GRCm39) V275I probably benign Het
Nppb T A 4: 148,071,431 (GRCm39) L121* probably null Het
Oog2 A T 4: 143,922,782 (GRCm39) Q349L probably benign Het
Or5d39 T C 2: 87,980,189 (GRCm39) H58R probably damaging Het
Or5v1b T C 17: 37,840,897 (GRCm39) S10P possibly damaging Het
Pcdhgb8 T G 18: 37,895,596 (GRCm39) V222G possibly damaging Het
Plcd3 A T 11: 102,969,290 (GRCm39) C226S probably damaging Het
Rnf213 A G 11: 119,332,069 (GRCm39) E2426G probably damaging Het
Rraga T C 4: 86,494,304 (GRCm39) V50A possibly damaging Het
Scmh1 T C 4: 120,386,473 (GRCm39) probably benign Het
Slc9a9 A G 9: 95,110,952 (GRCm39) Y590C probably damaging Het
Snx20 C T 8: 89,354,013 (GRCm39) R239Q probably benign Het
Vmn2r59 A G 7: 41,670,732 (GRCm39) probably benign Het
Zfp128 A G 7: 12,624,289 (GRCm39) D219G probably benign Het
Other mutations in Plxdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Plxdc2 APN 2 16,654,950 (GRCm39) missense probably damaging 1.00
IGL01700:Plxdc2 APN 2 16,516,926 (GRCm39) missense probably benign 0.00
IGL02306:Plxdc2 APN 2 16,665,585 (GRCm39) missense probably benign 0.06
IGL02555:Plxdc2 APN 2 16,734,152 (GRCm39) missense probably benign 0.02
IGL02558:Plxdc2 APN 2 16,674,409 (GRCm39) splice site probably benign
IGL03031:Plxdc2 APN 2 16,655,043 (GRCm39) splice site probably null
IGL03114:Plxdc2 APN 2 16,654,935 (GRCm39) missense probably damaging 1.00
R1024:Plxdc2 UTSW 2 16,716,917 (GRCm39) missense probably benign 0.00
R1449:Plxdc2 UTSW 2 16,665,592 (GRCm39) missense possibly damaging 0.82
R1840:Plxdc2 UTSW 2 16,674,667 (GRCm39) missense probably benign 0.11
R2091:Plxdc2 UTSW 2 16,718,494 (GRCm39) missense probably damaging 1.00
R2129:Plxdc2 UTSW 2 16,516,902 (GRCm39) missense probably benign
R2192:Plxdc2 UTSW 2 16,570,147 (GRCm39) missense probably damaging 0.99
R2287:Plxdc2 UTSW 2 16,517,001 (GRCm39) missense probably benign 0.00
R2567:Plxdc2 UTSW 2 16,716,995 (GRCm39) missense probably benign 0.00
R3964:Plxdc2 UTSW 2 16,665,651 (GRCm39) missense probably damaging 0.98
R4496:Plxdc2 UTSW 2 16,517,040 (GRCm39) missense probably damaging 1.00
R4876:Plxdc2 UTSW 2 16,708,129 (GRCm39) missense probably damaging 1.00
R4891:Plxdc2 UTSW 2 16,716,957 (GRCm39) missense probably benign
R5238:Plxdc2 UTSW 2 16,655,026 (GRCm39) missense probably damaging 1.00
R5389:Plxdc2 UTSW 2 16,654,998 (GRCm39) missense probably damaging 1.00
R5984:Plxdc2 UTSW 2 16,665,666 (GRCm39) missense probably benign 0.28
R6675:Plxdc2 UTSW 2 16,716,932 (GRCm39) missense probably benign
R6751:Plxdc2 UTSW 2 16,552,952 (GRCm39) missense probably benign 0.14
R7676:Plxdc2 UTSW 2 16,716,894 (GRCm39) missense probably benign 0.01
R7757:Plxdc2 UTSW 2 16,734,187 (GRCm39) missense probably benign 0.37
R7813:Plxdc2 UTSW 2 16,665,678 (GRCm39) missense possibly damaging 0.56
R7919:Plxdc2 UTSW 2 16,553,036 (GRCm39) missense probably damaging 0.98
R9783:Plxdc2 UTSW 2 16,674,349 (GRCm39) nonsense probably null
Z1176:Plxdc2 UTSW 2 16,570,214 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CGGAATGCAGTACCAATTGG -3'
(R):5'- ACAAGGGGTGGAATTTAACCTG -3'

Sequencing Primer
(F):5'- AAGCGCTCCCTACTTTAC -3'
(R):5'- GCATGTCTGTGCTGCAATG -3'
Posted On 2015-06-12