Incidental Mutation 'R8316:Plcxd1'
ID 641685
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 067854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8316 (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 T at 110250180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 212 (M212L)
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: M212L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
AA Change: M212L

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 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A C 10: 78,903,573 (GRCm39) C248G probably damaging Het
4933427D14Rik A T 11: 72,059,612 (GRCm39) V693E possibly damaging Het
Abcc10 G T 17: 46,638,735 (GRCm39) L42I probably damaging Het
Alb A G 5: 90,616,449 (GRCm39) E318G probably benign Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Aox4 T A 1: 58,293,470 (GRCm39) C941S possibly damaging Het
Aqp9 A G 9: 71,045,495 (GRCm39) V38A probably benign Het
AW209491 A G 13: 14,812,349 (GRCm39) T401A probably damaging Het
Ccdc57 C T 11: 120,776,742 (GRCm39) A553T probably damaging Het
Celf2 C T 2: 6,551,914 (GRCm39) D522N probably benign Het
Cfap210 A G 2: 69,612,287 (GRCm39) probably null Het
Cmpk2 A G 12: 26,524,136 (GRCm39) N311S probably damaging Het
Dcn T C 10: 97,330,939 (GRCm39) I91T probably damaging Het
Defa30 G A 8: 21,624,709 (GRCm39) V11I probably benign Het
Dnmt3a T A 12: 3,946,965 (GRCm39) V397E probably benign Het
Ehhadh G A 16: 21,585,053 (GRCm39) A276V probably benign Het
Fibcd1 T C 2: 31,723,791 (GRCm39) probably benign Het
Gpr156 A G 16: 37,818,336 (GRCm39) D344G probably null Het
H2-T5 A G 17: 36,479,154 (GRCm39) S32P unknown Het
Invs G T 4: 48,426,199 (GRCm39) R995S possibly damaging Het
Itpr3 T C 17: 27,325,199 (GRCm39) M1264T possibly damaging Het
Lzic C T 4: 149,572,527 (GRCm39) A39V probably benign Het
Marchf6 A G 15: 31,482,650 (GRCm39) L516P possibly damaging Het
Mecom C T 3: 30,011,529 (GRCm39) E591K probably benign Het
Mical3 T C 6: 120,911,944 (GRCm39) D1916G probably damaging Het
Mms22l T C 4: 24,578,855 (GRCm39) I738T probably damaging Het
Mroh2b G A 15: 4,980,746 (GRCm39) W1438* probably null Het
Mroh8 G T 2: 157,071,879 (GRCm39) T542K possibly damaging Het
Msl1 A T 11: 98,691,074 (GRCm39) K416I probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Or51a10 A T 7: 103,698,829 (GRCm39) V244E probably damaging Het
Or5p5 G T 7: 107,414,030 (GRCm39) V82F possibly damaging Het
Or5p58 A G 7: 107,694,450 (GRCm39) F109S probably benign Het
Or6c70 A G 10: 129,709,891 (GRCm39) V245A probably damaging Het
Pdzk1ip1 T A 4: 114,946,323 (GRCm39) V61D probably benign Het
Pld1 A G 3: 28,078,361 (GRCm39) T7A probably benign Het
Ppm1n T C 7: 19,012,302 (GRCm39) D310G probably damaging Het
Prpf8 A G 11: 75,390,641 (GRCm39) N1264S possibly damaging Het
Pum2 T A 12: 8,763,456 (GRCm39) N204K possibly damaging Het
Recql5 G A 11: 115,784,861 (GRCm39) T822I possibly damaging Het
Rfc1 T C 5: 65,436,077 (GRCm39) T656A probably benign Het
Sacs T C 14: 61,427,068 (GRCm39) Y159H possibly damaging Het
Septin14 A G 5: 129,773,194 (GRCm39) S148P probably damaging Het
Slco1c1 T A 6: 141,492,640 (GRCm39) M341K probably benign Het
Smok2a T C 17: 13,445,160 (GRCm39) S246P probably damaging Het
Spata9 C A 13: 76,125,890 (GRCm39) S124R possibly damaging Het
Sri A G 5: 8,113,317 (GRCm39) N103D probably damaging Het
Sspo G A 6: 48,459,622 (GRCm39) C3327Y probably damaging Het
Trank1 A G 9: 111,178,370 (GRCm39) M353V probably benign Het
Trim80 A T 11: 115,332,006 (GRCm39) E66V probably damaging Het
Txndc16 A G 14: 45,448,641 (GRCm39) L73P probably damaging Het
Ugt2b34 T A 5: 87,039,249 (GRCm39) M471L probably damaging Het
Ush2a G T 1: 188,178,899 (GRCm39) V1357L probably benign Het
Usp15 G T 10: 122,959,848 (GRCm39) P855T Het
Uspl1 C T 5: 149,135,491 (GRCm39) T290I possibly damaging Het
Zbtb2 A C 10: 4,319,084 (GRCm39) M314R probably benign Het
Zcchc2 A G 1: 105,959,844 (GRCm39) Y1151C probably damaging Het
Zmat3 T C 3: 32,395,670 (GRCm39) Y279C 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
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'- CCGTGACATAACCCATGACG -3'
(R):5'- GCTGATCATAACGGCTGACTG -3'

Sequencing Primer
(F):5'- TTGGCTTGCAGGAACTTC -3'
(R):5'- ATCATAACGGCTGACTGTGGCC -3'
Posted On 2020-07-28