Incidental Mutation 'R7676:Plxdc2'
ID 592440
Institutional Source Beutler Lab
Gene Symbol Plxdc2
Ensembl Gene ENSMUSG00000026748
Gene Name plexin domain containing 2
Synonyms 1200007L24Rik, Tem7r, 5430431D22Rik
MMRRC Submission 045647-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7676 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 16361115-16760650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16716894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 377 (S377L)
Ref Sequence ENSEMBL: ENSMUSP00000028081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028081] [ENSMUST00000114702] [ENSMUST00000114703]
AlphaFold Q9DC11
Predicted Effect probably benign
Transcript: ENSMUST00000028081
AA Change: S377L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000028081
Gene: ENSMUSG00000026748
AA Change: S377L

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: S375L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000110350
Gene: ENSMUSG00000026748
AA Change: S375L

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: S326L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110351
Gene: ENSMUSG00000026748
AA Change: S326L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,185,813 (GRCm39) D116G possibly damaging Het
Adam6a G A 12: 113,508,196 (GRCm39) G190S probably benign Het
Adnp G A 2: 168,025,367 (GRCm39) R643* probably null Het
Akap6 A G 12: 52,933,633 (GRCm39) D375G possibly damaging Het
Aldh1l2 G T 10: 83,343,975 (GRCm39) A480E probably benign Het
Ccdc175 T A 12: 72,148,821 (GRCm39) Q779L possibly damaging Het
Dnah7b T G 1: 46,273,324 (GRCm39) L2484* probably null Het
Dnajc21 T C 15: 10,462,430 (GRCm39) Y65C possibly damaging Het
Dnhd1 C A 7: 105,333,294 (GRCm39) N255K probably benign Het
Efhc1 G T 1: 21,037,593 (GRCm39) G257W probably damaging Het
Fars2 C A 13: 36,389,026 (GRCm39) L172I probably benign Het
Fat4 T C 3: 38,945,846 (GRCm39) Y1580H probably damaging Het
Fli1 T A 9: 32,339,326 (GRCm39) N253Y probably benign Het
Foxd3 G T 4: 99,545,151 (GRCm39) C97F probably damaging Het
Gem C A 4: 11,711,170 (GRCm39) D120E possibly damaging Het
Ighv10-3 A G 12: 114,487,299 (GRCm39) C41R probably damaging Het
Katnip A G 7: 125,449,549 (GRCm39) D897G probably benign Het
Kcnab3 A G 11: 69,217,553 (GRCm39) S16G probably benign Het
Keg1 T G 19: 12,693,409 (GRCm39) V154G probably benign Het
Lrrc45 G A 11: 120,611,148 (GRCm39) R602H probably damaging Het
Ltbp1 A G 17: 75,598,292 (GRCm39) D591G possibly damaging Het
Mmp10 T A 9: 7,503,550 (GRCm39) V140D probably damaging Het
Nat8f2 A T 6: 85,845,194 (GRCm39) M56K probably benign Het
Nckipsd T C 9: 108,692,153 (GRCm39) F525L probably damaging Het
Or10ak7 A G 4: 118,791,347 (GRCm39) S233P probably damaging Het
Or10j7 T A 1: 173,011,120 (GRCm39) K294* probably null Het
Or6c6c G T 10: 129,541,155 (GRCm39) S136I possibly damaging Het
P2ry12 T A 3: 59,125,178 (GRCm39) M166L possibly damaging Het
Palm3 T C 8: 84,756,074 (GRCm39) S529P possibly damaging Het
Pdilt A T 7: 119,094,220 (GRCm39) Y344N probably damaging Het
Pip4k2b A T 11: 97,611,188 (GRCm39) N309K probably benign Het
Pkd1l1 C T 11: 8,912,708 (GRCm39) V166I Het
Rc3h2 A T 2: 37,295,344 (GRCm39) V224E possibly damaging Het
Stk32c T A 7: 138,685,220 (GRCm39) D428V possibly damaging Het
Ttn T C 2: 76,644,951 (GRCm39) D12968G probably damaging Het
Tulp2 G T 7: 45,170,451 (GRCm39) V457F possibly damaging Het
Vcan A T 13: 89,839,908 (GRCm39) S1879T probably damaging Het
Vmn1r51 T C 6: 90,106,437 (GRCm39) Y118H probably benign Het
Zfat A C 15: 68,096,693 (GRCm39) V40G possibly damaging 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
R4167:Plxdc2 UTSW 2 16,570,196 (GRCm39) missense probably damaging 0.99
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
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'- GCTTAAACAGGTGAAGATGATTCCAAG -3'
(R):5'- ATAGGCAAACAATCTTGTGGGTAC -3'

Sequencing Primer
(F):5'- AAAAACATGTTTCATTCTCCCTCTC -3'
(R):5'- CCTTCTGTAGGCAGGCTG -3'
Posted On 2019-11-12