Incidental Mutation 'R2203:Pdcl'
ID 238808
Institutional Source Beutler Lab
Gene Symbol Pdcl
Ensembl Gene ENSMUSG00000009030
Gene Name phosducin-like
Synonyms 1200011E13Rik, PhLP1
MMRRC Submission 040205-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R2203 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 37240086-37249344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37242056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 231 (N231K)
Ref Sequence ENSEMBL: ENSMUSP00000108562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009174] [ENSMUST00000112940] [ENSMUST00000138314] [ENSMUST00000147703]
AlphaFold Q9DBX2
Predicted Effect probably benign
Transcript: ENSMUST00000009174
AA Change: N231K

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000009174
Gene: ENSMUSG00000009030
AA Change: N231K

DomainStartEndE-ValueType
low complexity region 15 31 N/A INTRINSIC
Pfam:Phosducin 35 299 8.6e-162 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112940
AA Change: N231K

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108562
Gene: ENSMUSG00000009030
AA Change: N231K

DomainStartEndE-ValueType
low complexity region 15 31 N/A INTRINSIC
Pfam:Phosducin 35 299 8.6e-162 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138314
SMART Domains Protein: ENSMUSP00000145483
Gene: ENSMUSG00000009030

DomainStartEndE-ValueType
low complexity region 15 31 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147703
SMART Domains Protein: ENSMUSP00000119372
Gene: ENSMUSG00000009030

DomainStartEndE-ValueType
low complexity region 15 31 N/A INTRINSIC
Pfam:Phosducin 35 193 6.8e-90 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Abcc5 C G 16: 20,224,632 (GRCm39) L44F possibly damaging Het
Abi3bp T G 16: 56,433,566 (GRCm39) L550R probably benign Het
Brca2 T A 5: 150,462,967 (GRCm39) D910E possibly damaging Het
Cacna1h C T 17: 25,599,234 (GRCm39) A1742T probably damaging Het
Cartpt A T 13: 100,037,133 (GRCm39) S4T probably benign Het
Ccdc66 T A 14: 27,208,790 (GRCm39) D488V probably benign Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Cfap45 T C 1: 172,359,728 (GRCm39) V76A probably benign Het
Clptm1 G T 7: 19,367,817 (GRCm39) F598L possibly damaging Het
Cntrl G A 2: 35,033,749 (GRCm39) V257I possibly damaging Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Crebbp A C 16: 3,956,641 (GRCm39) M394R possibly damaging Het
Ctnnd1 A G 2: 84,447,024 (GRCm39) L407P probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fam184a T A 10: 53,528,530 (GRCm39) Q29L probably damaging Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Gapdh A T 6: 125,139,569 (GRCm39) S165T probably benign Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Grik4 T A 9: 42,458,951 (GRCm39) S596C probably damaging Het
Gtf2e1 T A 16: 37,331,904 (GRCm39) E390D possibly damaging Het
Hmgcr A G 13: 96,793,141 (GRCm39) L497P probably damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Htr5b T C 1: 121,455,693 (GRCm39) T76A probably damaging Het
Iars1 A G 13: 49,876,151 (GRCm39) E812G probably benign Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Jmjd1c A G 10: 67,075,242 (GRCm39) probably null Het
Kcnj5 T C 9: 32,234,196 (GRCm39) T40A probably benign Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Map2k2 T C 10: 80,955,213 (GRCm39) S14P probably damaging Het
Med26 T C 8: 73,249,746 (GRCm39) E451G probably damaging Het
Nbeal1 T A 1: 60,323,165 (GRCm39) M2081K probably benign Het
Nectin4 G A 1: 171,213,797 (GRCm39) V433M possibly damaging Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or4p23 C G 2: 88,576,953 (GRCm39) G93A probably benign Het
Pbrm1 A G 14: 30,754,406 (GRCm39) D142G possibly damaging Het
Pkd1 G T 17: 24,799,863 (GRCm39) A591S probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Rabep1 A C 11: 70,825,400 (GRCm39) E689A probably damaging Het
Ralgapa1 T C 12: 55,659,585 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Saxo1 A C 4: 86,363,998 (GRCm39) Y162D probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l2 A T 8: 126,218,366 (GRCm39) W324R probably damaging Het
Slc19a1 T C 10: 76,877,758 (GRCm39) C98R possibly damaging Het
Slc26a8 G T 17: 28,866,981 (GRCm39) L583I probably benign Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Ttc39a A G 4: 109,288,785 (GRCm39) N293S probably benign Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Vmn2r104 A T 17: 20,250,083 (GRCm39) N729K probably benign Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfp712 T A 13: 67,190,048 (GRCm39) T160S probably benign Het
Other mutations in Pdcl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Pdcl APN 2 37,247,386 (GRCm39) start codon destroyed probably null 1.00
BB003:Pdcl UTSW 2 37,242,251 (GRCm39) missense probably damaging 1.00
BB003:Pdcl UTSW 2 37,242,249 (GRCm39) missense probably damaging 1.00
BB013:Pdcl UTSW 2 37,242,251 (GRCm39) missense probably damaging 1.00
BB013:Pdcl UTSW 2 37,242,249 (GRCm39) missense probably damaging 1.00
R0019:Pdcl UTSW 2 37,241,932 (GRCm39) missense probably damaging 0.99
R0019:Pdcl UTSW 2 37,241,932 (GRCm39) missense probably damaging 0.99
R0147:Pdcl UTSW 2 37,242,142 (GRCm39) missense probably benign 0.00
R0148:Pdcl UTSW 2 37,242,142 (GRCm39) missense probably benign 0.00
R0157:Pdcl UTSW 2 37,242,189 (GRCm39) missense probably damaging 1.00
R1876:Pdcl UTSW 2 37,245,708 (GRCm39) missense probably damaging 0.99
R2202:Pdcl UTSW 2 37,242,056 (GRCm39) missense probably benign 0.28
R2204:Pdcl UTSW 2 37,242,056 (GRCm39) missense probably benign 0.28
R2896:Pdcl UTSW 2 37,245,702 (GRCm39) missense possibly damaging 0.93
R3961:Pdcl UTSW 2 37,242,199 (GRCm39) missense probably benign 0.00
R4010:Pdcl UTSW 2 37,242,123 (GRCm39) missense probably damaging 1.00
R4663:Pdcl UTSW 2 37,245,778 (GRCm39) missense probably damaging 1.00
R6896:Pdcl UTSW 2 37,242,191 (GRCm39) missense probably damaging 1.00
R7926:Pdcl UTSW 2 37,242,251 (GRCm39) missense probably damaging 1.00
R7926:Pdcl UTSW 2 37,242,249 (GRCm39) missense probably damaging 1.00
R8722:Pdcl UTSW 2 37,247,317 (GRCm39) missense probably benign 0.04
R8867:Pdcl UTSW 2 37,242,348 (GRCm39) missense probably damaging 1.00
R9783:Pdcl UTSW 2 37,242,174 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAGTTTCGCACAGATGTCAG -3'
(R):5'- AGGGCCCCAATTCAAGCAAG -3'

Sequencing Primer
(F):5'- AGCACCAAGACTTCCTTTTCTGG -3'
(R):5'- GCAAGTTTTTGAAATCCCCAGTGG -3'
Posted On 2014-10-02