Incidental Mutation 'R5604:Plcxd1'
ID 439175
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 043156-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R5604 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 110247835-110253819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110250451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 264 (V264A)
Ref Sequence ENSEMBL: ENSMUSP00000083892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077220] [ENSMUST00000086687] [ENSMUST00000112534] [ENSMUST00000141066] [ENSMUST00000135409] [ENSMUST00000140538]
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: V264A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
AA Change: V264A

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: ENSMUST00000144162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136722
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
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,556,278 (GRCm39) N164I possibly damaging Het
4933402J07Rik C A 8: 88,295,125 (GRCm39) R88S possibly damaging Het
Abca1 A T 4: 53,067,168 (GRCm39) probably null Het
Abca13 T A 11: 9,516,279 (GRCm39) I4406K probably damaging Het
Adam6b T A 12: 113,454,420 (GRCm39) Y412* probably null Het
Ahcyl2 C T 6: 29,908,366 (GRCm39) H370Y probably damaging Het
Ahi1 A G 10: 20,862,904 (GRCm39) Y693C probably damaging Het
Anapc4 T A 5: 52,999,076 (GRCm39) Y129* probably null Het
Ankrd35 A G 3: 96,592,215 (GRCm39) T834A probably benign Het
Antxr2 T C 5: 98,096,169 (GRCm39) K372E probably damaging Het
Arhgef1 C T 7: 24,612,210 (GRCm39) H198Y probably benign Het
Barhl2 T C 5: 106,603,412 (GRCm39) E249G probably benign Het
C2cd5 T C 6: 142,957,747 (GRCm39) E987G probably benign Het
C87436 T C 6: 86,424,337 (GRCm39) S290P probably benign Het
Ccser1 C T 6: 61,290,788 (GRCm39) T490M probably damaging Het
Cd8b1 T C 6: 71,303,159 (GRCm39) V78A probably benign Het
Cdc25c A G 18: 34,866,701 (GRCm39) Y374H probably damaging Het
Cmya5 C T 13: 93,229,271 (GRCm39) R1939H probably benign Het
Cyp2d40 A G 15: 82,648,256 (GRCm39) F19S probably damaging Het
Dll3 A G 7: 27,994,057 (GRCm39) V460A probably benign Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
E4f1 A G 17: 24,663,118 (GRCm39) I729T probably damaging Het
Endou A C 15: 97,618,800 (GRCm39) S75A probably benign Het
Epas1 C T 17: 87,113,200 (GRCm39) H129Y probably damaging Het
Grm1 T A 10: 10,622,479 (GRCm39) N415Y probably damaging Het
Hdc A T 2: 126,436,583 (GRCm39) S429R probably benign Het
Hnf4g C T 3: 3,722,186 (GRCm39) Q447* probably null Het
Htr6 C T 4: 138,788,814 (GRCm39) A414T probably benign Het
Insig1 T C 5: 28,280,080 (GRCm39) L224P probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Irak2 T A 6: 113,667,792 (GRCm39) S458T possibly damaging Het
Irs2 A G 8: 11,055,007 (GRCm39) S1142P possibly damaging Het
Kirrel1 T A 3: 86,996,462 (GRCm39) N379I possibly damaging Het
L3mbtl4 T A 17: 69,084,917 (GRCm39) D609E probably benign Het
Lama3 A G 18: 12,572,405 (GRCm39) T537A probably benign Het
Lce1i A T 3: 92,685,056 (GRCm39) V40E unknown Het
Mprip T A 11: 59,649,293 (GRCm39) V999D probably benign Het
Myd88 G T 9: 119,168,829 (GRCm39) T85K possibly damaging Het
Or1e35 T A 11: 73,797,853 (GRCm39) H155L probably benign Het
Padi6 A T 4: 140,458,473 (GRCm39) M473K probably damaging Het
Pcdh12 T A 18: 38,401,935 (GRCm39) S97C probably damaging Het
Pkd1l1 T A 11: 8,783,877 (GRCm39) D2026V probably damaging Het
Plekha4 T C 7: 45,198,580 (GRCm39) S558P probably damaging Het
Ppm1a T A 12: 72,837,455 (GRCm39) M334K probably benign Het
Ppp1r13l T C 7: 19,109,524 (GRCm39) S684P possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prl2a1 T C 13: 27,990,369 (GRCm39) probably benign Het
Ptch1 T C 13: 63,672,936 (GRCm39) K753E probably benign Het
Qrich1 A G 9: 108,436,502 (GRCm39) probably benign Het
Ror2 G A 13: 53,271,201 (GRCm39) R373C probably benign Het
Rtn4 C A 11: 29,658,140 (GRCm39) L765I probably damaging Het
Sema3a T C 5: 13,523,487 (GRCm39) probably null Het
Setd2 T A 9: 110,433,284 (GRCm39) D62E probably damaging Het
Ss18 A T 18: 14,769,577 (GRCm39) Y327N unknown Het
Ticam1 G A 17: 56,578,756 (GRCm39) T113I probably benign Het
Tnrc6a A G 7: 122,773,459 (GRCm39) I1134V probably damaging Het
Top3b T G 16: 16,707,399 (GRCm39) Y526* probably null Het
Tph2 T C 10: 114,926,614 (GRCm39) E384G probably damaging Het
Ttll11 A T 2: 35,707,798 (GRCm39) I503N probably benign Het
Zfp87 T G 13: 67,665,945 (GRCm39) K172N 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
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'- AAGCATGGTCTCTATCGCATG -3'
(R):5'- GACATGACCATTCCTATCCCTCATG -3'

Sequencing Primer
(F):5'- CTCTATCGCATGGGGTGAG -3'
(R):5'- ATGACATCACTATTGTCCCTGACG -3'
Posted On 2016-10-26