Incidental Mutation 'R9430:Plcxd1'
ID 712872
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 # R9430 (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 G at 110251368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 315 (T315A)
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: T315A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
AA Change: T315A

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A C 1: 59,231,198 (GRCm39) N804K probably benign Het
Arid5b C A 10: 68,022,087 (GRCm39) probably null Het
Brd2 T C 17: 34,331,610 (GRCm39) D779G unknown Het
Brox A T 1: 183,069,353 (GRCm39) V118E probably damaging Het
Ccdc137 A T 11: 120,349,530 (GRCm39) E76V probably damaging Het
Ccdc150 A G 1: 54,320,930 (GRCm39) K327E probably damaging Het
Ccdc171 A G 4: 83,522,362 (GRCm39) E342G probably damaging Het
Cd109 G A 9: 78,574,698 (GRCm39) probably null Het
Cep85 C A 4: 133,894,665 (GRCm39) R47L probably damaging Het
Cgrrf1 T A 14: 47,091,331 (GRCm39) V285E probably damaging Het
Ctu1 T C 7: 43,326,042 (GRCm39) S234P probably damaging Het
Dnah3 G A 7: 119,628,205 (GRCm39) T1484I probably damaging Het
Dusp16 G T 6: 134,737,829 (GRCm39) Q70K probably damaging Het
Eri3 T G 4: 117,439,868 (GRCm39) Y187* probably null Het
Evi2a T A 11: 79,418,523 (GRCm39) Y29F possibly damaging Het
Ext2 A G 2: 93,592,999 (GRCm39) S402P possibly damaging Het
Fam76a T A 4: 132,645,055 (GRCm39) Q60L probably damaging Het
Fat3 T C 9: 16,287,381 (GRCm39) N714S probably damaging Het
Fbxw24 T A 9: 109,439,038 (GRCm39) N179I probably damaging Het
Fras1 A G 5: 96,929,251 (GRCm39) N3885S probably benign Het
Grip2 A T 6: 91,784,265 (GRCm39) V12E probably benign Het
Gse1 A T 8: 121,299,049 (GRCm39) Y766F unknown Het
Herc1 C T 9: 66,325,785 (GRCm39) Q1420* probably null Het
Htr1f T A 16: 64,746,831 (GRCm39) I154F probably damaging Het
Hus1b G T 13: 31,131,587 (GRCm39) A24E probably damaging Het
Igkv17-127 A G 6: 67,838,441 (GRCm39) I51V probably damaging Het
Ilk G T 7: 105,390,072 (GRCm39) R149L probably benign Het
Inpp5b T A 4: 124,636,340 (GRCm39) V5E possibly damaging Het
Jak2 A T 19: 29,265,367 (GRCm39) S465C possibly damaging Het
Kif23 T C 9: 61,834,722 (GRCm39) T394A probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lama4 A G 10: 38,921,802 (GRCm39) D441G probably null Het
Ldhd A G 8: 112,356,680 (GRCm39) L27P possibly damaging Het
Lingo1 A G 9: 56,527,512 (GRCm39) I365T probably benign Het
Lyz2 C A 10: 117,118,077 (GRCm39) C24F possibly damaging Het
Map1b T A 13: 99,570,616 (GRCm39) T702S unknown Het
Map4 T A 9: 109,863,760 (GRCm39) D328E probably benign Het
Matn1 C T 4: 130,673,278 (GRCm39) T82M probably damaging Het
Mfrp T C 9: 44,014,570 (GRCm39) V239A probably damaging Het
Misp G T 10: 79,661,675 (GRCm39) V31F probably benign Het
Muc5ac C T 7: 141,362,569 (GRCm39) T1960I unknown Het
Myh2 T A 11: 67,070,359 (GRCm39) M434K probably benign Het
Myh3 T A 11: 66,982,726 (GRCm39) I815N possibly damaging Het
Myo18a A G 11: 77,709,410 (GRCm39) M507V possibly damaging Het
Nbas T A 12: 13,371,654 (GRCm39) S385T probably benign Het
Nepro G A 16: 44,552,460 (GRCm39) R319K possibly damaging Het
Nlrc3 A T 16: 3,783,396 (GRCm39) C53S probably benign Het
Nudt17 A G 3: 96,614,224 (GRCm39) probably null Het
Nwd2 T G 5: 63,964,665 (GRCm39) C1416W probably damaging Het
Ocln A C 13: 100,676,356 (GRCm39) F46V possibly damaging Het
Or52n3 A T 7: 104,530,204 (GRCm39) N97Y possibly damaging Het
Or5be3 A T 2: 86,864,253 (GRCm39) V104D probably damaging Het
Osbpl5 T C 7: 143,263,526 (GRCm39) K119R probably benign Het
Paf1 T G 7: 28,096,331 (GRCm39) F315V possibly damaging Het
Parp4 T A 14: 56,866,673 (GRCm39) V1079D probably damaging Het
Pcgf6 C T 19: 47,039,219 (GRCm39) A14T unknown Het
Plxnc1 A G 10: 94,758,544 (GRCm39) V384A probably benign Het
Polm G A 11: 5,784,749 (GRCm39) T236I probably damaging Het
Prl7d1 T C 13: 27,898,360 (GRCm39) T50A possibly damaging Het
Reln T C 5: 22,120,105 (GRCm39) D2849G probably damaging Het
Sec16b C T 1: 157,394,894 (GRCm39) R1045C probably damaging Het
Six4 A G 12: 73,150,719 (GRCm39) S609P possibly damaging Het
Slc25a31 A T 3: 40,679,297 (GRCm39) probably null Het
Slc4a2 A G 5: 24,636,317 (GRCm39) N230S probably benign Het
Sorcs1 T C 19: 50,199,208 (GRCm39) Y785C probably damaging Het
Styxl1 A G 5: 135,784,259 (GRCm39) probably null Het
Synm C T 7: 67,383,181 (GRCm39) V1494M possibly damaging Het
Taf7l2 A T 10: 115,949,282 (GRCm39) D81E probably damaging Het
Tamm41 A G 6: 114,993,063 (GRCm39) M230T probably benign Het
Tbc1d12 T G 19: 38,884,490 (GRCm39) M347R probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tm4sf1 A C 3: 57,197,214 (GRCm39) S164A probably damaging Het
Trim67 A G 8: 125,552,956 (GRCm39) H686R probably damaging Het
Trpm1 T C 7: 63,873,446 (GRCm39) L567P probably benign Het
Tsfm A G 10: 126,858,771 (GRCm39) L198P probably damaging Het
Ttc6 A T 12: 57,733,193 (GRCm39) D1112V probably damaging Het
Ttn A G 2: 76,601,922 (GRCm39) V18580A probably benign Het
Ubr1 C A 2: 120,734,506 (GRCm39) Q1131H possibly damaging Het
Uhrf2 C T 19: 30,016,659 (GRCm39) R117C probably benign Het
Vmn2r70 A G 7: 85,215,240 (GRCm39) V98A probably benign Het
Zfp799 T C 17: 33,039,186 (GRCm39) E360G 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
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
R9682:Plcxd1 UTSW 5 110,251,477 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGTCATCAGTCACATGGG -3'
(R):5'- TGAAGGTCTCCGAAGTGGTG -3'

Sequencing Primer
(F):5'- TCATCAGTCACATGGGGAGGG -3'
(R):5'- AAGTGGTGACCCCCGTCTTG -3'
Posted On 2022-05-16