Incidental Mutation 'R8996:Plcxd1'
ID 684713
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 068827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8996 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 110247835-110253819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110250444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 262 (T262A)
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: T262A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
AA Change: T262A

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: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,769,069 (GRCm39) I764V probably benign Het
Adgrv1 GTT GT 13: 81,553,457 (GRCm39) probably null Het
Alcam T C 16: 52,126,114 (GRCm39) I68V probably benign Het
Atp8b2 A G 3: 89,850,696 (GRCm39) L75P probably damaging Het
B3gnt6 T C 7: 97,842,799 (GRCm39) N387S probably benign Het
Btn2a2 T C 13: 23,662,831 (GRCm39) E373G probably damaging Het
Cfap65 G A 1: 74,941,347 (GRCm39) H1831Y probably benign Het
Cftr T A 6: 18,255,945 (GRCm39) C564* probably null Het
Chd6 A G 2: 160,823,543 (GRCm39) W1276R probably damaging Het
Csmd1 T C 8: 15,971,105 (GRCm39) E3070G possibly damaging Het
Cxcr4 A G 1: 128,517,538 (GRCm39) I41T possibly damaging Het
Dnhd1 T A 7: 105,323,242 (GRCm39) N583K probably damaging Het
Fignl1 G T 11: 11,752,953 (GRCm39) P34Q probably damaging Het
Frg2f1 T C 4: 119,388,085 (GRCm39) D138G probably damaging Het
Gabra4 A T 5: 71,729,046 (GRCm39) M578K possibly damaging Het
Gnb5 T C 9: 75,251,805 (GRCm39) V351A probably benign Het
H2-Ob A T 17: 34,462,531 (GRCm39) I245F probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Igkv4-54 A T 6: 69,608,774 (GRCm39) Y48* probably null Het
Kdm7a A C 6: 39,129,786 (GRCm39) H463Q probably benign Het
L3mbtl4 A G 17: 68,769,997 (GRCm39) T256A probably benign Het
Lhpp A G 7: 132,212,484 (GRCm39) D17G probably damaging Het
Mis18bp1 C T 12: 65,180,632 (GRCm39) V950I probably benign Het
Mms22l T A 4: 24,598,884 (GRCm39) probably null Het
Mrgpra4 T C 7: 47,630,945 (GRCm39) T219A probably benign Het
Nptx1 G A 11: 119,438,394 (GRCm39) R8C unknown Het
Sf1 G A 19: 6,426,441 (GRCm39) G221S Het
Shkbp1 A G 7: 27,042,844 (GRCm39) V531A possibly damaging Het
Slc12a3 A T 8: 95,056,063 (GRCm39) E66D probably benign Het
Slc14a1 A T 18: 78,156,911 (GRCm39) I198K possibly damaging Het
Spag8 T C 4: 43,651,998 (GRCm39) E362G probably damaging Het
Speer4c1 T A 5: 15,915,886 (GRCm39) I161L probably benign Het
Stk3 A G 15: 34,945,208 (GRCm39) S427P possibly damaging Het
Stt3b T C 9: 115,073,065 (GRCm39) K814E unknown Het
Synpo T A 18: 60,737,230 (GRCm39) I239F possibly damaging Het
Tcf7l1 G T 6: 72,765,563 (GRCm39) R97S possibly damaging Het
Trav15-2-dv6-2 T A 14: 53,887,247 (GRCm39) Y56N probably benign Het
Ttc39c A G 18: 12,820,136 (GRCm39) N112S probably benign Het
Usp14 T C 18: 10,000,521 (GRCm39) K380E probably benign Het
Usp17lb C T 7: 104,490,889 (GRCm39) A13T probably benign Het
Usp4 G A 9: 108,268,909 (GRCm39) R921H probably damaging Het
Xndc1 A G 7: 101,722,518 (GRCm39) D61G probably damaging Het
Zfp1006 G A 8: 129,946,016 (GRCm39) P270S possibly 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
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'- CATGGTCTCTATCGCATGGG -3'
(R):5'- GACATGACCATTCCTATCCCTCATG -3'

Sequencing Primer
(F):5'- CTCTATCGCATGGGGTGAG -3'
(R):5'- ATGACATCACTATTGTCCCTGACG -3'
Posted On 2021-10-11