Incidental Mutation 'R9156:Pld5'
ID 695353
Institutional Source Beutler Lab
Gene Symbol Pld5
Ensembl Gene ENSMUSG00000055214
Gene Name phospholipase D family member 5
Synonyms B230365F16Rik
MMRRC Submission 068974-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9156 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 175789872-176102878 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 175803104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 387 (E387G)
Ref Sequence ENSEMBL: ENSMUSP00000069326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065967] [ENSMUST00000104983] [ENSMUST00000111167] [ENSMUST00000125404]
AlphaFold Q3UNN8
Predicted Effect possibly damaging
Transcript: ENSMUST00000065967
AA Change: E387G

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: E387G

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
PLDc 215 242 3.62e-3 SMART
Pfam:PLDc_3 245 421 2e-101 PFAM
PLDc 434 460 6.11e0 SMART
low complexity region 511 521 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000104983
SMART Domains Protein: ENSMUSP00000100599
Gene: ENSMUSG00000078184

DomainStartEndE-ValueType
low complexity region 27 46 N/A INTRINSIC
RRM 74 147 8.44e-22 SMART
low complexity region 152 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111167
AA Change: E325G

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: E325G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
PLDc 153 180 3.62e-3 SMART
PLDc 372 398 6.11e0 SMART
low complexity region 449 459 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125404
SMART Domains Protein: ENSMUSP00000121428
Gene: ENSMUSG00000055214

DomainStartEndE-ValueType
transmembrane domain 69 91 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (61/62)
MGI Phenotype PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,647,957 (GRCm39) L1150V probably damaging Het
AB124611 A G 9: 21,455,989 (GRCm39) D194G possibly damaging Het
Adgrv1 A G 13: 81,669,302 (GRCm39) L2418P probably benign Het
Ap3m1 A G 14: 21,090,152 (GRCm39) S213P probably damaging Het
Apobec2 A T 17: 48,739,531 (GRCm39) L36H Het
Arrb1 A G 7: 99,237,280 (GRCm39) D78G Het
Astn1 A G 1: 158,338,555 (GRCm39) Q434R probably damaging Het
Cadps C G 14: 12,705,676 (GRCm38) D240H probably damaging Het
Cfhr4 A G 1: 139,660,085 (GRCm39) I680T probably damaging Het
Cmya5 A C 13: 93,233,878 (GRCm39) D403E unknown Het
Crxos A C 7: 15,631,436 (GRCm39) I45L probably benign Het
Dmxl1 C G 18: 50,072,639 (GRCm39) N2744K probably damaging Het
Dnah2 A G 11: 69,313,687 (GRCm39) I4204T Het
Ei24 A G 9: 36,697,327 (GRCm39) S134P probably damaging Het
Eif2ak3 G T 6: 70,860,614 (GRCm39) V397F probably damaging Het
Eif4g2 T C 7: 110,672,969 (GRCm39) I134V Het
Fam186a A G 15: 99,841,159 (GRCm39) I1695T possibly damaging Het
Gcnt3 T C 9: 69,941,939 (GRCm39) M210V probably damaging Het
Gpatch8 A G 11: 102,370,299 (GRCm39) S1080P probably benign Het
Gtf3c1 A G 7: 125,244,949 (GRCm39) L1695P possibly damaging Het
Haus3 A G 5: 34,324,994 (GRCm39) F222L probably damaging Het
Kbtbd8 C T 6: 95,099,825 (GRCm39) Q445* probably null Het
Kcnc3 A G 7: 44,240,592 (GRCm39) N95D probably damaging Het
Krt40 C T 11: 99,430,693 (GRCm39) probably null Het
Lgi1 A G 19: 38,289,746 (GRCm39) T271A probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Map3k21 A G 8: 126,665,463 (GRCm39) T551A possibly damaging Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Mug1 C A 6: 121,851,390 (GRCm39) D762E probably damaging Het
Myo1e A T 9: 70,266,605 (GRCm39) N615I probably damaging Het
Or4k36 T C 2: 111,145,827 (GRCm39) M1T probably null Het
Or51f23 T C 7: 102,453,339 (GRCm39) L218P probably damaging Het
Rad54l T C 4: 115,980,349 (GRCm39) probably benign Het
Rnf123 A T 9: 107,940,227 (GRCm39) probably benign Het
Rnf213 A G 11: 119,331,574 (GRCm39) E2262G Het
Rp1 C A 1: 4,234,161 (GRCm39) V910L unknown Het
Rpp21 A T 17: 36,568,407 (GRCm39) C23S probably benign Het
Scn11a T C 9: 119,588,989 (GRCm39) M1306V possibly damaging Het
Scn2b C T 9: 45,036,734 (GRCm39) L81F possibly damaging Het
Sco2 T C 15: 89,256,363 (GRCm39) D97G probably damaging Het
Slc25a54 T C 3: 109,001,548 (GRCm39) V112A probably benign Het
Slc5a11 A T 7: 122,864,492 (GRCm39) K363* probably null Het
Smg1 G T 7: 117,753,884 (GRCm39) T2563K unknown Het
Snap47 A T 11: 59,319,290 (GRCm39) S283T probably damaging Het
Speer4a3 CTTT C 5: 26,155,857 (GRCm39) probably benign Het
Stat1 G T 1: 52,178,388 (GRCm39) R274L probably damaging Het
Stoml1 A G 9: 58,164,409 (GRCm39) T166A Het
Svs5 G T 2: 164,079,509 (GRCm39) Q133K probably benign Het
Tas2r107 T A 6: 131,636,422 (GRCm39) H209L probably benign Het
Tmco3 T A 8: 13,360,228 (GRCm39) V477D possibly damaging Het
Tmem131 A T 1: 36,880,767 (GRCm39) S168T possibly damaging Het
Tmem41a T C 16: 21,755,859 (GRCm39) N149S probably damaging Het
Ttll4 T C 1: 74,719,225 (GRCm39) F359L probably benign Het
Ttn T A 2: 76,785,162 (GRCm39) M784L unknown Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Ubxn2b C T 4: 6,214,646 (GRCm39) P227S probably damaging Het
Upb1 C T 10: 75,265,961 (GRCm39) L263F probably benign Het
Usp15 T A 10: 122,949,553 (GRCm39) T935S probably benign Het
Zscan4-ps3 G A 7: 11,347,164 (GRCm39) C400Y probably damaging Het
Other mutations in Pld5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Pld5 APN 1 175,967,585 (GRCm39) missense probably damaging 1.00
IGL00949:Pld5 APN 1 175,803,039 (GRCm39) missense probably damaging 1.00
IGL01067:Pld5 APN 1 176,102,445 (GRCm39) utr 5 prime probably benign
IGL02174:Pld5 APN 1 176,102,310 (GRCm39) missense possibly damaging 0.86
IGL02380:Pld5 APN 1 175,967,610 (GRCm39) missense probably damaging 0.97
IGL02879:Pld5 APN 1 175,798,157 (GRCm39) missense probably damaging 1.00
R0087:Pld5 UTSW 1 175,812,025 (GRCm39) missense probably damaging 0.98
R0135:Pld5 UTSW 1 175,798,155 (GRCm39) missense probably damaging 1.00
R0144:Pld5 UTSW 1 175,798,107 (GRCm39) missense probably benign 0.00
R0362:Pld5 UTSW 1 175,803,146 (GRCm39) nonsense probably null
R0453:Pld5 UTSW 1 175,917,522 (GRCm39) missense possibly damaging 0.75
R0454:Pld5 UTSW 1 176,102,295 (GRCm39) missense probably benign 0.00
R0722:Pld5 UTSW 1 175,803,081 (GRCm39) missense probably benign 0.34
R0751:Pld5 UTSW 1 175,872,462 (GRCm39) missense probably damaging 0.98
R0785:Pld5 UTSW 1 175,803,018 (GRCm39) splice site probably benign
R1184:Pld5 UTSW 1 175,872,462 (GRCm39) missense probably damaging 0.98
R1501:Pld5 UTSW 1 175,803,087 (GRCm39) missense probably benign 0.36
R1644:Pld5 UTSW 1 175,803,192 (GRCm39) missense possibly damaging 0.86
R2012:Pld5 UTSW 1 175,791,579 (GRCm39) missense probably benign 0.27
R2426:Pld5 UTSW 1 175,791,542 (GRCm39) missense probably benign
R3508:Pld5 UTSW 1 175,821,603 (GRCm39) missense probably damaging 1.00
R3917:Pld5 UTSW 1 175,791,504 (GRCm39) missense probably benign 0.00
R4207:Pld5 UTSW 1 175,821,441 (GRCm39) missense probably damaging 1.00
R4373:Pld5 UTSW 1 175,967,583 (GRCm39) missense probably damaging 1.00
R4828:Pld5 UTSW 1 176,102,433 (GRCm39) missense probably benign 0.06
R4831:Pld5 UTSW 1 176,102,450 (GRCm39) utr 5 prime probably benign
R5861:Pld5 UTSW 1 175,917,571 (GRCm39) missense probably damaging 1.00
R6182:Pld5 UTSW 1 175,872,420 (GRCm39) missense probably benign 0.35
R6191:Pld5 UTSW 1 175,798,100 (GRCm39) missense probably benign 0.04
R6246:Pld5 UTSW 1 175,791,475 (GRCm39) nonsense probably null
R6737:Pld5 UTSW 1 175,917,588 (GRCm39) missense probably damaging 1.00
R7082:Pld5 UTSW 1 175,917,442 (GRCm39) missense probably benign 0.21
R7164:Pld5 UTSW 1 176,041,187 (GRCm39) start codon destroyed probably null 0.00
R7237:Pld5 UTSW 1 176,102,301 (GRCm39) missense possibly damaging 0.79
R7635:Pld5 UTSW 1 175,821,416 (GRCm39) critical splice donor site probably null
R7805:Pld5 UTSW 1 175,872,480 (GRCm39) missense probably damaging 1.00
R7967:Pld5 UTSW 1 176,102,264 (GRCm39) missense probably benign 0.03
R8038:Pld5 UTSW 1 175,872,463 (GRCm39) missense probably benign 0.19
R8995:Pld5 UTSW 1 175,791,580 (GRCm39) missense probably benign 0.01
R9033:Pld5 UTSW 1 175,967,585 (GRCm39) missense probably damaging 0.99
R9067:Pld5 UTSW 1 175,917,474 (GRCm39) missense probably benign 0.00
R9156:Pld5 UTSW 1 175,902,003 (GRCm39) missense probably benign 0.05
R9712:Pld5 UTSW 1 175,791,572 (GRCm39) missense probably benign 0.01
X0004:Pld5 UTSW 1 176,089,088 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AAGTGTGTACTGCAAGGGGC -3'
(R):5'- CAAAACGGTTGCCACGATG -3'

Sequencing Primer
(F):5'- TCAGCAAGCTTCAGGTTCAG -3'
(R):5'- CGGTTGCCACGATGCAGAATG -3'
Posted On 2022-01-20