Incidental Mutation 'R1510:Plxdc1'
ID 167870
Institutional Source Beutler Lab
Gene Symbol Plxdc1
Ensembl Gene ENSMUSG00000017417
Gene Name plexin domain containing 1
Synonyms Tem7, 2410003I07Rik
MMRRC Submission 039557-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R1510 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 97814064-97877270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97823150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 357 (C357S)
Ref Sequence ENSEMBL: ENSMUSP00000017561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017561] [ENSMUST00000107565]
AlphaFold Q91ZV7
Predicted Effect probably damaging
Transcript: ENSMUST00000017561
AA Change: C357S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000017561
Gene: ENSMUSG00000017417
AA Change: C357S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PSI 304 349 5.98e-2 SMART
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107565
AA Change: C364S

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103191
Gene: ENSMUSG00000017417
AA Change: C364S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PSI 311 356 5.98e-2 SMART
transmembrane domain 432 454 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141708
Meta Mutation Damage Score 0.4872 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,073,181 (GRCm39) L326S probably damaging Het
Adam18 T A 8: 25,115,847 (GRCm39) T616S probably benign Het
Adam22 T C 5: 8,202,408 (GRCm39) K215E probably benign Het
Ahi1 T G 10: 20,835,699 (GRCm39) S11A probably benign Het
Asb18 T C 1: 89,923,976 (GRCm39) M96V possibly damaging Het
Baz2b T C 2: 59,752,553 (GRCm39) D1149G probably damaging Het
C1qtnf3 A G 15: 10,975,722 (GRCm39) E176G probably benign Het
Cd151 T A 7: 141,050,280 (GRCm39) S172T probably benign Het
Cdh2 G T 18: 16,781,651 (GRCm39) L90I probably benign Het
Cdkl3 T C 11: 51,924,341 (GRCm39) V55A possibly damaging Het
Cfap90 T A 13: 68,745,596 (GRCm39) M1K probably null Het
Chst8 T A 7: 34,374,693 (GRCm39) H382L probably benign Het
Cyb5r4 T C 9: 86,948,696 (GRCm39) probably benign Het
Cyp2j13 T C 4: 95,950,209 (GRCm39) D264G possibly damaging Het
Daam1 A G 12: 72,024,500 (GRCm39) M814V probably damaging Het
Ddx19b A G 8: 111,742,285 (GRCm39) I150T probably damaging Het
Dync1li1 T G 9: 114,518,278 (GRCm39) S50A possibly damaging Het
Fat3 A T 9: 15,871,351 (GRCm39) L3680Q probably damaging Het
Fermt1 C T 2: 132,766,942 (GRCm39) E342K probably benign Het
Gm21286 T G 4: 60,794,931 (GRCm39) noncoding transcript Het
Il6 T C 5: 30,223,060 (GRCm39) Y126H probably damaging Het
Inhba G T 13: 16,201,607 (GRCm39) V390L probably damaging Het
Ino80 C T 2: 119,280,530 (GRCm39) R278H probably damaging Het
Jade3 T G X: 20,384,057 (GRCm39) N799K probably benign Het
Kcnn1 G A 8: 71,316,714 (GRCm39) probably benign Het
Klhl6 T C 16: 19,765,848 (GRCm39) T585A probably damaging Het
Kmt2d T A 15: 98,754,258 (GRCm39) probably benign Het
Krt17 C T 11: 100,148,365 (GRCm39) E359K possibly damaging Het
Lce1b T G 3: 92,563,283 (GRCm39) R83S unknown Het
Lck T C 4: 129,449,461 (GRCm39) S290G possibly damaging Het
Ltbp3 T C 19: 5,798,915 (GRCm39) S544P probably benign Het
Lypd6b T A 2: 49,824,831 (GRCm39) S4R probably damaging Het
Macf1 T C 4: 123,328,555 (GRCm39) D4724G probably null Het
Mcoln2 A G 3: 145,882,365 (GRCm39) T255A probably benign Het
Mcph1 T A 8: 18,682,703 (GRCm39) probably null Het
Mki67 C A 7: 135,297,900 (GRCm39) R2378L probably benign Het
Mxd1 A G 6: 86,630,137 (GRCm39) V27A possibly damaging Het
Myo5a T C 9: 75,078,833 (GRCm39) Y864H probably benign Het
Ndel1 A T 11: 68,713,482 (GRCm39) N318K possibly damaging Het
Oasl1 A G 5: 115,066,167 (GRCm39) Q95R probably benign Het
Or5ac16 A T 16: 59,022,546 (GRCm39) M81K probably damaging Het
Or5j3 T C 2: 86,128,715 (GRCm39) L185P probably damaging Het
Or5p57 T C 7: 107,665,735 (GRCm39) Y60C probably damaging Het
Or6b2b A T 1: 92,419,339 (GRCm39) I46N probably damaging Het
Parp10 T A 15: 76,125,617 (GRCm39) Q487L probably damaging Het
Pcdh10 C T 3: 45,333,838 (GRCm39) R51C probably damaging Het
Pdpr A T 8: 111,851,107 (GRCm39) probably benign Het
Pfpl A T 19: 12,407,060 (GRCm39) D437V probably benign Het
Pik3c2a G A 7: 115,987,280 (GRCm39) T547I probably benign Het
Pkdrej A C 15: 85,700,963 (GRCm39) S1658A possibly damaging Het
Pkn3 T C 2: 29,969,776 (GRCm39) probably null Het
Plekhh2 A G 17: 84,867,004 (GRCm39) probably null Het
Pnp A G 14: 51,188,042 (GRCm39) T132A possibly damaging Het
Prorp A T 12: 55,350,997 (GRCm39) Q102L probably benign Het
Rcan2 A G 17: 44,147,315 (GRCm39) D51G probably damaging Het
Rcn1 T C 2: 105,219,434 (GRCm39) N253S probably damaging Het
Rreb1 T A 13: 38,115,860 (GRCm39) I1073N probably benign Het
Scaf4 G T 16: 90,042,282 (GRCm39) D686E unknown Het
Sfxn5 A C 6: 85,213,907 (GRCm39) M221R probably damaging Het
Slc38a1 A G 15: 96,507,741 (GRCm39) F104L probably damaging Het
Slc8a1 A T 17: 81,955,547 (GRCm39) V497D probably damaging Het
Spryd3 C A 15: 102,027,396 (GRCm39) G290C probably damaging Het
Stc2 A T 11: 31,315,418 (GRCm39) Y140* probably null Het
Stfa2 A T 16: 36,228,673 (GRCm39) I8K possibly damaging Het
Sult3a2 A T 10: 33,658,026 (GRCm39) M29K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Triobp G A 15: 78,887,967 (GRCm39) R1908Q probably damaging Het
Trpm2 T A 10: 77,802,828 (GRCm39) R7* probably null Het
Ttn T C 2: 76,782,501 (GRCm39) I912V probably benign Het
Tusc2 T A 9: 107,442,080 (GRCm39) V93E probably damaging Het
Uhrf2 T A 19: 30,016,461 (GRCm39) probably benign Het
Umodl1 G A 17: 31,178,203 (GRCm39) V60M probably damaging Het
Ush2a A T 1: 188,380,501 (GRCm39) D2270V probably damaging Het
Vmn2r80 A G 10: 79,005,553 (GRCm39) T397A possibly damaging Het
Wbp2 A G 11: 115,977,708 (GRCm39) V15A probably benign Het
Zfp182 T A X: 20,896,446 (GRCm39) R617W probably damaging Het
Zfp82 C A 7: 29,756,047 (GRCm39) R345L probably damaging Het
Zfp85 T C 13: 67,903,084 (GRCm39) probably benign Het
Other mutations in Plxdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01896:Plxdc1 APN 11 97,815,408 (GRCm39) missense probably damaging 0.98
IGL02490:Plxdc1 APN 11 97,845,604 (GRCm39) missense probably benign 0.17
IGL02568:Plxdc1 APN 11 97,869,390 (GRCm39) missense probably damaging 1.00
IGL02618:Plxdc1 APN 11 97,823,130 (GRCm39) missense probably benign
IGL03169:Plxdc1 APN 11 97,823,146 (GRCm39) missense possibly damaging 0.80
R0200:Plxdc1 UTSW 11 97,824,838 (GRCm39) missense probably damaging 1.00
R0627:Plxdc1 UTSW 11 97,823,030 (GRCm39) splice site probably null
R2144:Plxdc1 UTSW 11 97,824,838 (GRCm39) missense probably damaging 1.00
R5334:Plxdc1 UTSW 11 97,846,931 (GRCm39) missense possibly damaging 0.87
R6084:Plxdc1 UTSW 11 97,819,289 (GRCm39) missense probably damaging 1.00
R6243:Plxdc1 UTSW 11 97,846,299 (GRCm39) missense probably damaging 1.00
R6305:Plxdc1 UTSW 11 97,829,416 (GRCm39) missense probably damaging 1.00
R7224:Plxdc1 UTSW 11 97,823,153 (GRCm39) missense possibly damaging 0.88
R7574:Plxdc1 UTSW 11 97,847,316 (GRCm39) missense possibly damaging 0.89
R7633:Plxdc1 UTSW 11 97,846,977 (GRCm39) missense possibly damaging 0.95
R7909:Plxdc1 UTSW 11 97,823,130 (GRCm39) missense probably benign
R8056:Plxdc1 UTSW 11 97,869,343 (GRCm39) missense probably damaging 0.99
R8536:Plxdc1 UTSW 11 97,869,522 (GRCm39) splice site probably null
R8754:Plxdc1 UTSW 11 97,846,337 (GRCm39) missense possibly damaging 0.80
R8796:Plxdc1 UTSW 11 97,847,407 (GRCm39) missense probably benign 0.02
R9189:Plxdc1 UTSW 11 97,844,788 (GRCm39) missense probably benign
R9450:Plxdc1 UTSW 11 97,845,681 (GRCm39) missense probably damaging 0.98
R9583:Plxdc1 UTSW 11 97,824,844 (GRCm39) missense probably damaging 1.00
RF007:Plxdc1 UTSW 11 97,869,504 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- TCCTGTCCTGTGAGATGGCCCTAATC -3'
(R):5'- TTGAAGCAGCTAACAGAGAAATGACCC -3'

Sequencing Primer
(F):5'- CCTAATCAGGAATGGTCAGGCTC -3'
(R):5'- attttccaagataggttctcactatg -3'
Posted On 2014-04-13