Incidental Mutation 'R5263:Pld4'
ID 401567
Institutional Source Beutler Lab
Gene Symbol Pld4
Ensembl Gene ENSMUSG00000052160
Gene Name phospholipase D family member 4
Synonyms thss
MMRRC Submission 042831-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5263 (G1)
Quality Score 219
Status Not validated
Chromosome 12
Chromosomal Location 112727089-112735420 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112731465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 206 (L206P)
Ref Sequence ENSEMBL: ENSMUSP00000067002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063888]
AlphaFold Q8BG07
Predicted Effect probably damaging
Transcript: ENSMUST00000063888
AA Change: L206P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: L206P

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
low complexity region 113 124 N/A INTRINSIC
PLDc 207 234 1.64e-10 SMART
Pfam:PLDc_3 237 414 5.5e-41 PFAM
PLDc 421 447 4.66e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221811
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222886
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: A spontaneous mutation that introduces a stop codon at residue 46 of 503 results in smaller body size and thin fur. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 G T 3: 138,133,816 (GRCm39) V309L probably benign Het
Agmo T C 12: 37,407,680 (GRCm39) V188A probably benign Het
Aqr A G 2: 113,947,059 (GRCm39) M1041T probably damaging Het
Arhgef4 T A 1: 34,764,078 (GRCm39) S1111R possibly damaging Het
Ascc3 A C 10: 50,592,757 (GRCm39) E1144D probably benign Het
Cct3 T C 3: 88,228,672 (GRCm39) probably null Het
Cd209f T C 8: 4,154,506 (GRCm39) T114A probably benign Het
Cgnl1 G A 9: 71,539,936 (GRCm39) Q1103* probably null Het
Cop1 G A 1: 159,152,507 (GRCm39) D586N probably damaging Het
Dcaf5 A G 12: 80,395,120 (GRCm39) S350P probably damaging Het
Dhx29 T C 13: 113,084,755 (GRCm39) C658R probably damaging Het
Dync1i1 G A 6: 5,969,446 (GRCm39) V424I possibly damaging Het
Gfap C T 11: 102,787,756 (GRCm39) R63Q probably damaging Het
Gm10563 CTTT CTTTATTT 4: 155,698,940 (GRCm39) probably null Het
Gprc6a C A 10: 51,502,900 (GRCm39) G321V probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Izumo1r A G 9: 14,812,976 (GRCm39) C99R probably damaging Het
Lrp1b T C 2: 41,850,691 (GRCm39) D102G probably damaging Het
Mettl4 G A 17: 95,047,937 (GRCm39) Q235* probably null Het
Mmrn2 A G 14: 34,121,541 (GRCm39) T804A probably benign Het
Mrgprb5 A G 7: 47,817,937 (GRCm39) V266A probably damaging Het
Ntng1 T C 3: 109,842,188 (GRCm39) D195G probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkd1 A G 12: 50,435,089 (GRCm39) L546P probably damaging Het
Rhob A T 12: 8,549,232 (GRCm39) M134K probably benign Het
Ryr3 A G 2: 112,548,347 (GRCm39) S3087P possibly damaging Het
Sema6c T C 3: 95,080,463 (GRCm39) L887P probably benign Het
Sltm T C 9: 70,492,081 (GRCm39) S648P unknown Het
Sucnr1 A G 3: 59,994,190 (GRCm39) I239M possibly damaging Het
Tgtp2 T A 11: 48,950,090 (GRCm39) M161L probably damaging Het
Trpm7 A G 2: 126,663,137 (GRCm39) V1037A probably benign Het
Vmn2r13 A T 5: 109,321,841 (GRCm39) H285Q probably benign Het
Zfp971 T A 2: 177,675,555 (GRCm39) C385S probably damaging Het
Zfpm2 T A 15: 40,962,791 (GRCm39) V283E probably benign Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign Het
Other mutations in Pld4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Pld4 APN 12 112,729,925 (GRCm39) missense probably benign 0.01
IGL01839:Pld4 APN 12 112,731,513 (GRCm39) missense probably damaging 1.00
IGL01954:Pld4 APN 12 112,734,355 (GRCm39) critical splice donor site probably null
IGL02253:Pld4 APN 12 112,733,141 (GRCm39) missense probably damaging 1.00
IGL03149:Pld4 APN 12 112,733,263 (GRCm39) missense probably benign 0.00
IGL03278:Pld4 APN 12 112,733,165 (GRCm39) missense probably damaging 0.98
IGL03349:Pld4 APN 12 112,734,313 (GRCm39) missense probably benign 0.01
Lipodicum UTSW 12 112,731,498 (GRCm39) missense probably damaging 1.00
PIT4403001:Pld4 UTSW 12 112,734,256 (GRCm39) missense probably damaging 1.00
PIT4468001:Pld4 UTSW 12 112,734,256 (GRCm39) missense probably damaging 1.00
R0052:Pld4 UTSW 12 112,734,291 (GRCm39) missense probably benign 0.03
R1078:Pld4 UTSW 12 112,729,876 (GRCm39) missense probably benign
R1756:Pld4 UTSW 12 112,729,826 (GRCm39) splice site probably null
R2006:Pld4 UTSW 12 112,734,923 (GRCm39) missense possibly damaging 0.89
R2037:Pld4 UTSW 12 112,734,992 (GRCm39) missense probably damaging 1.00
R3738:Pld4 UTSW 12 112,734,469 (GRCm39) missense probably benign 0.07
R4630:Pld4 UTSW 12 112,731,498 (GRCm39) missense probably damaging 1.00
R4911:Pld4 UTSW 12 112,730,951 (GRCm39) missense probably benign 0.01
R5008:Pld4 UTSW 12 112,734,484 (GRCm39) missense possibly damaging 0.89
R5310:Pld4 UTSW 12 112,735,046 (GRCm39) missense probably damaging 1.00
R5386:Pld4 UTSW 12 112,730,422 (GRCm39) nonsense probably null
R5513:Pld4 UTSW 12 112,728,988 (GRCm39) missense probably benign
R5788:Pld4 UTSW 12 112,730,551 (GRCm39) missense probably benign
R6085:Pld4 UTSW 12 112,733,320 (GRCm39) missense probably benign 0.01
R6157:Pld4 UTSW 12 112,734,535 (GRCm39) missense probably damaging 1.00
R6702:Pld4 UTSW 12 112,731,485 (GRCm39) missense probably damaging 1.00
R6767:Pld4 UTSW 12 112,730,549 (GRCm39) missense possibly damaging 0.51
R6962:Pld4 UTSW 12 112,733,288 (GRCm39) missense probably benign 0.00
R7864:Pld4 UTSW 12 112,731,557 (GRCm39) missense probably damaging 1.00
R8792:Pld4 UTSW 12 112,729,924 (GRCm39) missense probably benign 0.00
R8826:Pld4 UTSW 12 112,733,210 (GRCm39) missense possibly damaging 0.95
R9790:Pld4 UTSW 12 112,734,862 (GRCm39) missense probably damaging 1.00
R9791:Pld4 UTSW 12 112,734,862 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACAGCCTTGATCAGTGGGG -3'
(R):5'- AGGTTCTGCTTGCTAACTCC -3'

Sequencing Primer
(F):5'- AGCCTTGATCAGTGGGGTCATTC -3'
(R):5'- GTACCAGCTTTCTTCAGAAACAG -3'
Posted On 2016-07-06