Incidental Mutation 'R9682:Plcxd1'
ID 728614
Institutional Source Beutler Lab
Gene Symbol Plcxd1
Ensembl Gene ENSMUSG00000064247
Gene Name phosphatidylinositol-specific phospholipase C, X domain containing 1
Synonyms LOC231597, A330045H12Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R9682 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 110247835-110253819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110251477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 351 (N351I)
Ref Sequence ENSEMBL: ENSMUSP00000083892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077220] [ENSMUST00000086687] [ENSMUST00000112534] [ENSMUST00000135409] [ENSMUST00000140538] [ENSMUST00000141066]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000077220
SMART Domains Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434

DomainStartEndE-ValueType
low complexity region 50 83 N/A INTRINSIC
Pfam:GTP-bdg_N 107 198 9.1e-15 PFAM
Pfam:GTP-bdg_M 200 279 1.9e-17 PFAM
Pfam:MMR_HSR1 286 404 3.1e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000086687
AA Change: N351I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
AA Change: N351I

DomainStartEndE-ValueType
SCOP:d2ptd__ 48 355 1e-70 SMART
PDB:1AOD|A 57 228 1e-12 PDB
Blast:PLCXc 70 228 8e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112534
SMART Domains Protein: ENSMUSP00000108153
Gene: ENSMUSG00000064247

DomainStartEndE-ValueType
SCOP:d2ptd__ 1 111 2e-21 SMART
PDB:1AOD|A 7 95 3e-6 PDB
Blast:PLCXc 15 121 4e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000135409
SMART Domains Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
coiled coil region 185 218 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140538
Predicted Effect probably benign
Transcript: ENSMUST00000141066
SMART Domains Protein: ENSMUSP00000119248
Gene: ENSMUSG00000064247

DomainStartEndE-ValueType
SCOP:d2ptd__ 1 97 6e-20 SMART
PDB:1AOD|A 7 95 3e-6 PDB
Blast:PLCXc 15 99 5e-7 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,752,507 (GRCm39) M493L probably benign Het
Abcb5 T A 12: 118,896,328 (GRCm39) I334F probably damaging Het
Acad9 C T 3: 36,136,268 (GRCm39) A351V possibly damaging Het
Adgrg6 A T 10: 14,316,128 (GRCm39) N536K possibly damaging Het
Alk A T 17: 72,182,058 (GRCm39) L1322M possibly damaging Het
Atp2b1 T C 10: 98,815,662 (GRCm39) V102A possibly damaging Het
Atp8b3 T C 10: 80,371,230 (GRCm39) N48S probably damaging Het
B3gnt4 A T 5: 123,649,516 (GRCm39) I294L probably benign Het
Bnip3 A G 7: 138,496,445 (GRCm39) S88P probably damaging Het
Ccr2 A G 9: 123,906,176 (GRCm39) Y152C probably damaging Het
Cd28 T C 1: 60,804,505 (GRCm39) L161P probably damaging Het
Clcn4 C T 7: 7,299,797 (GRCm39) V11M probably benign Het
Clec4g T A 8: 3,757,713 (GRCm39) S79C unknown Het
Cux1 A T 5: 136,337,116 (GRCm39) S799T probably benign Het
Cyp2t4 A T 7: 26,857,611 (GRCm39) H408L probably damaging Het
Cyp3a41a A T 5: 145,652,326 (GRCm39) W58R possibly damaging Het
Dicer1 A G 12: 104,672,484 (GRCm39) V921A probably damaging Het
Dpysl3 A G 18: 43,491,313 (GRCm39) L268P probably damaging Het
Dus3l G A 17: 57,076,770 (GRCm39) V626I probably benign Het
Epb41 C A 4: 131,655,820 (GRCm39) D337Y Het
Fer1l6 A G 15: 58,422,113 (GRCm39) T104A probably benign Het
Fgd4 T C 16: 16,302,202 (GRCm39) T118A probably benign Het
Gabra4 T A 5: 71,798,415 (GRCm39) Y188F possibly damaging Het
Gm28168 A T 1: 117,875,824 (GRCm39) H151L probably damaging Het
Gm7995 A G 14: 42,133,395 (GRCm39) I91V Het
Heg1 A G 16: 33,541,298 (GRCm39) E485G probably benign Het
Hirip3 A G 7: 126,462,021 (GRCm39) D73G probably benign Het
Igdcc3 A G 9: 65,091,332 (GRCm39) D684G probably benign Het
Kif15 A G 9: 122,815,712 (GRCm39) E502G probably damaging Het
Lrrc31 C T 3: 30,743,423 (GRCm39) V181I probably damaging Het
Lrrc7 G T 3: 157,882,954 (GRCm39) S446R possibly damaging Het
Lyst A G 13: 13,831,526 (GRCm39) E1650G probably benign Het
Map3k6 A G 4: 132,975,419 (GRCm39) Y718C possibly damaging Het
Mta1 T C 12: 113,095,384 (GRCm39) probably null Het
Muc16 C T 9: 18,553,874 (GRCm39) G4140R unknown Het
Nfe2l1 A C 11: 96,710,944 (GRCm39) I428M probably benign Het
Nup210l T A 3: 90,051,469 (GRCm39) Y538N possibly damaging Het
Nxpe4 G A 9: 48,304,248 (GRCm39) V112M probably benign Het
Or1e16 C T 11: 73,286,025 (GRCm39) M274I probably benign Het
Or4c112 T A 2: 88,854,296 (GRCm39) Q17L possibly damaging Het
Or4k40 T A 2: 111,250,737 (GRCm39) K186N probably benign Het
Or52d3 G T 7: 104,229,434 (GRCm39) A194S probably damaging Het
Or8g24 G A 9: 38,989,874 (GRCm39) H56Y possibly damaging Het
Palm A G 10: 79,655,039 (GRCm39) T266A possibly damaging Het
Pdzph1 T G 17: 59,257,262 (GRCm39) K925N probably damaging Het
Pfkfb3 G T 2: 11,491,058 (GRCm39) Q179K probably benign Het
Phtf1 A G 3: 103,901,214 (GRCm39) Q421R possibly damaging Het
Pip5k1b A T 19: 24,356,318 (GRCm39) S207T probably damaging Het
Pkd2 T C 5: 104,626,790 (GRCm39) V324A probably damaging Het
Prr14l G A 5: 32,988,023 (GRCm39) P491S probably benign Het
Rxfp2 A T 5: 149,966,564 (GRCm39) R101* probably null Het
Saxo2 T G 7: 82,292,881 (GRCm39) K72T probably benign Het
Sema3b T A 9: 107,481,013 (GRCm39) D108V probably damaging Het
Sh3gl2 A G 4: 85,295,748 (GRCm39) D150G probably damaging Het
Slc6a12 G A 6: 121,340,704 (GRCm39) M544I probably benign Het
Spag6l T C 16: 16,646,981 (GRCm39) probably null Het
Stat3 A G 11: 100,785,593 (GRCm39) F512L probably benign Het
Stk39 A G 2: 68,196,449 (GRCm39) S327P probably damaging Het
Tjp3 C T 10: 81,109,645 (GRCm39) E853K probably benign Het
Tmem30c A T 16: 57,111,180 (GRCm39) S31T probably benign Het
Tpte A T 8: 22,841,493 (GRCm39) D495V probably damaging Het
Ugt2b5 A T 5: 87,287,522 (GRCm39) M215K probably damaging Het
Vinac1 T C 2: 128,875,529 (GRCm39) S1246G unknown Het
Vsig2 T C 9: 37,451,771 (GRCm39) L135S probably benign Het
Other mutations in Plcxd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01776:Plcxd1 APN 5 110,249,246 (GRCm39) splice site probably benign
IGL02268:Plcxd1 APN 5 110,248,140 (GRCm39) unclassified probably benign
IGL02870:Plcxd1 APN 5 110,249,271 (GRCm39) missense probably damaging 1.00
R0066:Plcxd1 UTSW 5 110,249,368 (GRCm39) missense probably damaging 1.00
R1366:Plcxd1 UTSW 5 110,250,096 (GRCm39) missense probably damaging 1.00
R1912:Plcxd1 UTSW 5 110,251,308 (GRCm39) missense probably benign 0.01
R2698:Plcxd1 UTSW 5 110,250,349 (GRCm39) missense probably benign 0.31
R5135:Plcxd1 UTSW 5 110,249,229 (GRCm39) intron probably benign
R5604:Plcxd1 UTSW 5 110,250,451 (GRCm39) missense probably benign 0.00
R6190:Plcxd1 UTSW 5 110,250,469 (GRCm39) missense probably damaging 1.00
R6345:Plcxd1 UTSW 5 110,248,165 (GRCm39) missense probably benign 0.33
R6351:Plcxd1 UTSW 5 110,250,033 (GRCm39) splice site probably null
R6696:Plcxd1 UTSW 5 110,249,751 (GRCm39) missense possibly damaging 0.83
R7743:Plcxd1 UTSW 5 110,250,369 (GRCm39) missense possibly damaging 0.95
R7959:Plcxd1 UTSW 5 110,251,422 (GRCm39) missense probably damaging 1.00
R8316:Plcxd1 UTSW 5 110,250,180 (GRCm39) missense probably benign 0.10
R8865:Plcxd1 UTSW 5 110,249,841 (GRCm39) unclassified probably benign
R8996:Plcxd1 UTSW 5 110,250,444 (GRCm39) missense probably benign 0.00
R9430:Plcxd1 UTSW 5 110,251,368 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TGTTCGTTGCTGGGATCAAC -3'
(R):5'- TCCGTTCATCAATGGAGGC -3'

Sequencing Primer
(F):5'- TGCTGGGATCAACATCACTG -3'
(R):5'- TTCATCAATGGAGGCCTGAGC -3'
Posted On 2022-10-06