Incidental Mutation 'R2698:Plcxd1'
ID 251301
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 040436-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2698 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110247835-110253819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110250349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 230 (Q230R)
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 benign
Transcript: ENSMUST00000086687
AA Change: Q230R

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
AA Change: Q230R

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 noncoding transcript
Transcript: ENSMUST00000125748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138507
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
Meta Mutation Damage Score 0.1965 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,578,862 (GRCm39) R901G possibly damaging Het
Abhd18 T A 3: 40,885,401 (GRCm39) M262K probably benign Het
Ano2 C A 6: 125,689,309 (GRCm39) L145I probably benign Het
Ckap5 T C 2: 91,408,426 (GRCm39) W874R probably damaging Het
Cox4i1 G T 8: 121,396,102 (GRCm39) probably benign Het
Cwc27 A T 13: 104,943,259 (GRCm39) N94K probably damaging Het
Dcaf11 T C 14: 55,804,342 (GRCm39) S372P probably damaging Het
Dpysl4 A G 7: 138,676,681 (GRCm39) N356S probably damaging Het
Dusp8 A G 7: 141,635,701 (GRCm39) probably benign Het
Erc2 G A 14: 27,993,662 (GRCm39) V894M probably benign Het
Fbxo28 T A 1: 182,144,719 (GRCm39) I282F probably benign Het
Fsd2 T C 7: 81,195,608 (GRCm39) T434A probably damaging Het
Gabra4 T C 5: 71,729,421 (GRCm39) H453R probably benign Het
Glrx T A 13: 75,988,065 (GRCm39) probably null Het
Gm11541 A T 11: 94,586,441 (GRCm39) L102* probably null Het
Gm5113 T A 7: 29,878,150 (GRCm39) Y79* probably null Het
Gpr87 T A 3: 59,086,587 (GRCm39) N306I probably damaging Het
Hydin T A 8: 111,336,561 (GRCm39) Y5113N possibly damaging Het
Iqsec3 C T 6: 121,390,430 (GRCm39) probably benign Het
Kbtbd8 C A 6: 95,103,570 (GRCm39) Y406* probably null Het
Lamb1 G T 12: 31,348,882 (GRCm39) R590L probably benign Het
Lin54 A T 5: 100,628,109 (GRCm39) N31K probably damaging Het
Lnpk T C 2: 74,367,845 (GRCm39) E165G probably damaging Het
Lrp4 C T 2: 91,305,557 (GRCm39) R276C probably damaging Het
Lrrc7 T A 3: 157,841,028 (GRCm39) T1384S probably benign Het
Mia2 T C 12: 59,217,780 (GRCm39) probably null Het
Morc2a T C 11: 3,635,400 (GRCm39) V797A probably damaging Het
Mrps23 T C 11: 88,096,193 (GRCm39) probably benign Het
Muc17 A T 5: 137,175,484 (GRCm39) I62K probably damaging Het
Nlrp4g T A 9: 124,349,630 (GRCm38) noncoding transcript Het
Nptx1 A T 11: 119,435,669 (GRCm39) probably benign Het
Or1j20 T A 2: 36,760,208 (GRCm39) I210K possibly damaging Het
Pabpc1l T G 2: 163,886,302 (GRCm39) probably null Het
Pdcd6ip A T 9: 113,503,575 (GRCm39) probably null Het
Plcg1 A G 2: 160,603,383 (GRCm39) T1185A possibly damaging Het
Psme4 T A 11: 30,824,282 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptch1 T A 13: 63,690,038 (GRCm39) N320Y probably damaging Het
Qars1 G A 9: 108,385,642 (GRCm39) V60I possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rhag T C 17: 41,147,367 (GRCm39) S410P probably damaging Het
Rnf213 A G 11: 119,300,970 (GRCm39) K297E probably benign Het
Rps6ka4 T C 19: 6,814,720 (GRCm39) E294G probably benign Het
Scaf4 T A 16: 90,041,244 (GRCm39) I695F unknown Het
Scrn2 T C 11: 96,923,122 (GRCm39) probably benign Het
Scx T A 15: 76,342,363 (GRCm39) C188S probably damaging Het
Sdk1 G T 5: 142,197,805 (GRCm39) V1893L possibly damaging Het
Sema5a C A 15: 32,673,546 (GRCm39) Q795K probably damaging Het
Slc24a3 A G 2: 145,455,487 (GRCm39) S459G probably benign Het
Smurf1 A G 5: 144,820,372 (GRCm39) probably benign Het
Taar4 T C 10: 23,837,328 (GRCm39) Y313H probably damaging Het
Tmprss11c A G 5: 86,419,322 (GRCm39) F79S probably damaging Het
Tnfaip8l2 T A 3: 95,047,672 (GRCm39) I64F possibly damaging Het
Trbv13-1 A G 6: 41,093,372 (GRCm39) T102A probably damaging Het
Trpa1 A T 1: 14,976,222 (GRCm39) N160K probably damaging Het
Ttc22 A G 4: 106,496,435 (GRCm39) Y495C probably benign Het
Usp50 A G 2: 126,619,949 (GRCm39) I121T probably damaging Het
Vmn2r117 A G 17: 23,678,885 (GRCm39) S780P probably damaging Het
Vmn2r66 A T 7: 84,644,607 (GRCm39) V601D probably damaging Het
Wapl G A 14: 34,413,734 (GRCm39) A199T probably benign Het
Zfp658 A G 7: 43,222,969 (GRCm39) T415A possibly damaging Het
Zfp760 C T 17: 21,939,935 (GRCm39) T9I probably damaging Het
Zfp998 A G 13: 66,581,495 (GRCm39) S59P probably damaging 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
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
R9682:Plcxd1 UTSW 5 110,251,477 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCTTGCAGGAACTTCGAG -3'
(R):5'- GATGTCACCCCATTCCTGAG -3'

Sequencing Primer
(F):5'- CTGCATCGTGAACATTTTTGGAGAC -3'
(R):5'- TGAGATATCACCATTATCCCGC -3'
Posted On 2014-12-04