Incidental Mutation 'R7743:Plcxd1'
ID 596646
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 045799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R7743 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 110247835-110253819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110250369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 237 (E237K)
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 possibly damaging
Transcript: ENSMUST00000086687
AA Change: E237K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
AA Change: E237K

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
Meta Mutation Damage Score 0.1193 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (77/79)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,516 (GRCm39) E1235G probably damaging Het
Abtb3 A T 10: 85,460,813 (GRCm39) I569F possibly damaging Het
Adam6a A G 12: 113,508,152 (GRCm39) D175G probably benign Het
Adgrf4 A T 17: 42,983,453 (GRCm39) C76* probably null Het
Agbl3 C T 6: 34,823,765 (GRCm39) T815I probably damaging Het
Ahnak2 A G 12: 112,748,383 (GRCm39) V488A not run Het
Akip1 T A 7: 109,311,035 (GRCm39) S192T probably benign Het
Apc2 G A 10: 80,140,749 (GRCm39) M201I probably damaging Het
Arel1 G T 12: 84,987,043 (GRCm39) N124K probably damaging Het
Atp10a A T 7: 58,453,457 (GRCm39) H845L probably damaging Het
Atp2a2 A G 5: 122,599,634 (GRCm39) Y586H probably benign Het
BC051019 A G 7: 109,315,266 (GRCm39) Y330H probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Chek2 T G 5: 110,987,916 (GRCm39) probably null Het
Cldn14 A G 16: 93,716,615 (GRCm39) L77S probably damaging Het
Cox15 T C 19: 43,728,380 (GRCm39) K298E possibly damaging Het
Cpt1b G T 15: 89,305,607 (GRCm39) D369E probably benign Het
Cpxm1 T C 2: 130,235,342 (GRCm39) N550S probably benign Het
Csdc2 A G 15: 81,833,399 (GRCm39) E132G possibly damaging Het
Cyb5d2 A T 11: 72,669,702 (GRCm39) C219S probably damaging Het
Erbb4 T C 1: 68,367,278 (GRCm39) T480A probably benign Het
Fndc1 G A 17: 7,983,969 (GRCm39) T1319I unknown Het
Gm5773 T G 3: 93,680,565 (GRCm39) V79G probably damaging Het
Hsf2 G A 10: 57,387,431 (GRCm39) probably null Het
Itgb2l T C 16: 96,238,608 (GRCm39) T64A probably damaging Het
Kifc5b T C 17: 27,143,176 (GRCm39) V316A probably damaging Het
Ktn1 A G 14: 47,907,750 (GRCm39) D279G probably damaging Het
Lonrf1 T C 8: 36,716,206 (GRCm39) E143G possibly damaging Het
Mroh9 C T 1: 162,852,122 (GRCm39) E856K probably benign Het
Muc16 T C 9: 18,568,773 (GRCm39) T1249A unknown Het
Myh6 G A 14: 55,194,607 (GRCm39) R721W probably damaging Het
Myo6 A T 9: 80,183,611 (GRCm39) I669F unknown Het
N4bp2 A G 5: 65,965,802 (GRCm39) T1284A probably damaging Het
Npr3 A G 15: 11,905,724 (GRCm39) M1T probably null Het
Obscn C T 11: 58,990,603 (GRCm39) V1657M probably damaging Het
Olfr908 A G 9: 38,427,624 (GRCm39) T99A possibly damaging Het
Or52a20 A G 7: 103,366,560 (GRCm39) E253G possibly damaging Het
Or52p2 A T 7: 102,237,638 (GRCm39) F104Y probably benign Het
Otud6b C A 4: 14,818,389 (GRCm39) A171S possibly damaging Het
Pdcd2l A C 7: 33,892,256 (GRCm39) D204E probably benign Het
Pdia2 T C 17: 26,417,842 (GRCm39) S56G probably benign Het
Plekha5 A T 6: 140,501,712 (GRCm39) R633S probably damaging Het
Pnpla6 T C 8: 3,586,594 (GRCm39) F937L possibly damaging Het
Pth2 A T 7: 44,830,733 (GRCm39) M6L probably benign Het
Ptprd T A 4: 76,004,326 (GRCm39) K143I probably damaging Het
Rhbdf2 T C 11: 116,492,427 (GRCm39) D487G probably benign Het
Rhbdf2 A T 11: 116,494,775 (GRCm39) D300E probably benign Het
Rock2 G A 12: 17,026,048 (GRCm39) V1265I probably damaging Het
Rsf1 CGGC CGGCGGCGGAGGC 7: 97,229,139 (GRCm39) probably benign Het
Rtn4 T A 11: 29,683,790 (GRCm39) Y1027* probably null Het
Rxfp3 A G 15: 11,037,216 (GRCm39) L52P probably damaging Het
Sel1l3 A G 5: 53,293,227 (GRCm39) Y830H probably benign Het
Serpinb3d C T 1: 107,007,088 (GRCm39) V207I probably damaging Het
Sipa1l2 T C 8: 126,190,972 (GRCm39) E1006G probably damaging Het
Slc22a19 C T 19: 7,661,201 (GRCm39) M324I possibly damaging Het
Slc37a1 T A 17: 31,535,159 (GRCm39) F106I probably damaging Het
Snx14 A T 9: 88,280,402 (GRCm39) S518T probably benign Het
Sp2 T C 11: 96,851,935 (GRCm39) T330A probably damaging Het
Spata13 A T 14: 60,993,698 (GRCm39) H1050L probably damaging Het
Sptssa A C 12: 54,703,201 (GRCm39) V23G possibly damaging Het
Syt3 A T 7: 44,042,091 (GRCm39) I317F probably damaging Het
Tars1 A C 15: 11,399,458 (GRCm39) probably null Het
Tead3 T A 17: 28,551,801 (GRCm39) T431S probably benign Het
Tiam2 G A 17: 3,568,431 (GRCm39) E1526K possibly damaging Het
Tnni3 G A 7: 4,524,891 (GRCm39) P12L probably benign Het
Topaz1 A G 9: 122,614,201 (GRCm39) H1207R probably benign Het
Trdn G T 10: 33,133,058 (GRCm39) E107* probably null Het
Trp63 A G 16: 25,701,375 (GRCm39) N483S probably benign Het
Trpm4 A G 7: 44,957,762 (GRCm39) S1009P probably benign Het
Trpm6 T C 19: 18,804,772 (GRCm39) V908A probably benign Het
Tsen34 A T 7: 3,697,601 (GRCm39) M25L possibly damaging Het
Ttn T C 2: 76,781,827 (GRCm39) E1073G unknown Het
Uaca A T 9: 60,783,677 (GRCm39) I1380F probably damaging Het
Ubr3 A G 2: 69,774,793 (GRCm39) T539A probably benign Het
Ugt1a5 T A 1: 88,094,117 (GRCm39) M115K probably benign Het
Unc45b A T 11: 82,813,726 (GRCm39) I378F probably damaging Het
Unk G A 11: 115,940,262 (GRCm39) R205Q possibly damaging Het
Ush2a T A 1: 188,542,376 (GRCm39) L3314Q probably benign Het
Vezt A G 10: 93,816,286 (GRCm39) L475P probably damaging Het
Vmn2r115 C T 17: 23,564,772 (GRCm39) Q220* probably null Het
Yap1 T C 9: 7,962,379 (GRCm39) Q223R probably benign Het
Zdhhc7 G A 8: 120,813,467 (GRCm39) T114M possibly damaging Het
Zwilch A C 9: 64,060,217 (GRCm39) C374G 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
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
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'- GGAAGCATGGTCTCTATCGC -3'
(R):5'- ATCACTATTGTCCCTGACGC -3'

Sequencing Primer
(F):5'- AAGCATGGTCTCTATCGCATGGG -3'
(R):5'- TGATGTCACCACTGAAGTGC -3'
Posted On 2019-11-26