Incidental Mutation 'R6311:Pdcl3'
Institutional Source Beutler Lab
Gene Symbol Pdcl3
Ensembl Gene ENSMUSG00000026078
Gene Namephosducin-like 3
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.337) question?
Stock #R6311 (G1)
Quality Score225.009
Status Validated
Chromosomal Location38985608-38997238 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to G at 38987844 bp
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000027247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027247] [ENSMUST00000193489] [ENSMUST00000194552]
Predicted Effect probably null
Transcript: ENSMUST00000027247
AA Change: M1V

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027247
Gene: ENSMUSG00000026078
AA Change: M1V

Pfam:Phosducin 6 207 2.3e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000193489
AA Change: M1V
SMART Domains Protein: ENSMUSP00000141258
Gene: ENSMUSG00000026078
AA Change: M1V

low complexity region 34 48 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194552
SMART Domains Protein: ENSMUSP00000142151
Gene: ENSMUSG00000026078

Pfam:Phosducin 1 97 2.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194994
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A G 13: 68,625,792 I1044T probably damaging Het
Arhgef4 T G 1: 34,723,981 F773V unknown Het
B4galnt4 A G 7: 141,068,659 N696S probably damaging Het
Cdh16 T A 8: 104,614,433 D786V probably benign Het
Cdh8 T C 8: 99,400,895 Y28C probably damaging Het
Cgn C T 3: 94,778,176 probably benign Het
Chd1l G A 3: 97,587,167 A399V probably damaging Het
Chst10 A G 1: 38,868,047 V174A probably damaging Het
Clca4a T A 3: 144,966,413 N256I probably damaging Het
Cntnap5a G A 1: 116,412,106 W698* probably null Het
Ddx24 C A 12: 103,423,907 R275L probably damaging Het
Dnmt3b G T 2: 153,674,005 G444V probably damaging Het
Ermn A G 2: 58,051,759 F109S probably damaging Het
Fam227a C T 15: 79,640,694 A190T probably benign Het
Fstl4 T C 11: 53,176,977 W556R probably damaging Het
Fut2 T A 7: 45,650,380 I323F possibly damaging Het
Grik2 T G 10: 49,578,138 K94Q probably damaging Het
Hsd3b5 T C 3: 98,630,090 R37G possibly damaging Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Kmt2c A G 5: 25,443,818 probably null Het
Lrriq1 A T 10: 103,173,393 D1076E probably benign Het
Mical2 T A 7: 112,323,558 I590N probably damaging Het
Mycbp2 A G 14: 103,262,740 L940P possibly damaging Het
Nr6a1 T C 2: 38,739,071 I257V possibly damaging Het
Olfr1452-ps1 T A 19: 13,016,571 M116K probably damaging Het
Olfr812 A G 10: 129,842,907 L45P possibly damaging Het
Pcdhb17 A T 18: 37,486,263 probably null Het
Pdzd2 T A 15: 12,458,188 E196D probably damaging Het
Pgm1 G A 5: 64,116,415 C581Y probably benign Het
Pgm2 T C 4: 99,970,040 F379S possibly damaging Het
Plbd1 T A 6: 136,613,947 H407L probably benign Het
Prdm12 A G 2: 31,654,309 Y308C probably benign Het
Prdm15 T C 16: 97,799,055 E893G probably null Het
Slc17a2 A G 13: 23,815,022 T133A probably benign Het
Slc9a8 T A 2: 167,451,220 S163T probably damaging Het
Sult2a3 T C 7: 14,111,557 I126V probably benign Het
Tlr1 C T 5: 64,926,845 D130N probably damaging Het
Ugt3a2 A T 15: 9,361,518 K127* probably null Het
Zbtb17 G A 4: 141,463,383 G171S probably benign Het
Other mutations in Pdcl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02253:Pdcl3 APN 1 38994930 missense probably benign 0.13
IGL03341:Pdcl3 APN 1 38995895 missense probably benign 0.17
IGL03353:Pdcl3 APN 1 38995836 missense probably benign 0.08
R0026:Pdcl3 UTSW 1 38991280 missense probably damaging 1.00
R1636:Pdcl3 UTSW 1 38994935 missense possibly damaging 0.93
R1727:Pdcl3 UTSW 1 38995755 missense possibly damaging 0.94
R1750:Pdcl3 UTSW 1 38995865 missense probably damaging 0.98
R6218:Pdcl3 UTSW 1 38988071 critical splice donor site probably null
R6995:Pdcl3 UTSW 1 38995336 missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-04-02