Incidental Mutation 'R9174:Pfdn2'
ID 696566
Institutional Source Beutler Lab
Gene Symbol Pfdn2
Ensembl Gene ENSMUSG00000006412
Gene Name prefoldin 2
Synonyms W48336, ESTM27
MMRRC Submission 068977-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9174 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 171173238-171186822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 171184164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 48 (E48Q)
Ref Sequence ENSEMBL: ENSMUSP00000120106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006579] [ENSMUST00000061878] [ENSMUST00000135941]
AlphaFold O70591
Predicted Effect probably damaging
Transcript: ENSMUST00000006579
AA Change: E42Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006579
Gene: ENSMUSG00000006412
AA Change: E42Q

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Prefoldin_2 18 93 3e-24 PFAM
low complexity region 102 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061878
SMART Domains Protein: ENSMUSP00000056212
Gene: ENSMUSG00000045259

DomainStartEndE-ValueType
Pfam:Kelch_5 255 297 8.2e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135941
AA Change: E48Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120106
Gene: ENSMUSG00000006412
AA Change: E48Q

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:Prefoldin_2 24 129 3.3e-32 PFAM
low complexity region 139 150 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (33/33)
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 prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap1 A G 11: 88,725,991 (GRCm39) Y737H probably damaging Het
Arap2 A T 5: 62,855,606 (GRCm39) V610E probably damaging Het
Arf1 G A 11: 59,103,433 (GRCm39) T158I probably damaging Het
Atat1 T C 17: 36,220,032 (GRCm39) K90R probably benign Het
Cfap70 C A 14: 20,493,706 (GRCm39) G132W probably damaging Het
Cpne9 T A 6: 113,279,032 (GRCm39) D475E probably damaging Het
Dapp1 T C 3: 137,638,916 (GRCm39) D270G probably benign Het
Dnajc21 A T 15: 10,462,076 (GRCm39) Y108* probably null Het
Etv4 A G 11: 101,662,705 (GRCm39) probably null Het
Fes C A 7: 80,030,631 (GRCm39) V555F probably damaging Het
Gm14496 A C 2: 181,642,797 (GRCm39) I823L possibly damaging Het
H2-M9 A C 17: 36,953,181 (GRCm39) L42R probably damaging Het
Ifitm2 A T 7: 140,535,013 (GRCm39) I107N probably damaging Het
Impg1 T C 9: 80,252,750 (GRCm39) T477A probably damaging Het
Inca1 G A 11: 70,580,732 (GRCm39) P78S possibly damaging Het
Khk A G 5: 31,085,819 (GRCm39) E126G probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Mars1 A T 10: 127,135,237 (GRCm39) I618N probably damaging Het
Mgl2 C A 11: 70,026,606 (GRCm39) F110L probably benign Het
Mon1b A G 8: 114,365,689 (GRCm39) D339G probably damaging Het
Pilra A G 5: 137,833,898 (GRCm39) I56T probably damaging Het
Ptpru A T 4: 131,535,746 (GRCm39) N410K probably damaging Het
Sema3c T C 5: 17,868,039 (GRCm39) probably null Het
Skic3 A G 13: 76,295,893 (GRCm39) E1052G probably benign Het
Stau1 A G 2: 166,791,269 (GRCm39) C495R probably damaging Het
Ubap1l T A 9: 65,284,289 (GRCm39) H339Q probably benign Het
Urb2 A G 8: 124,767,987 (GRCm39) D1411G possibly damaging Het
Ush2a T A 1: 188,460,416 (GRCm39) I2559N probably damaging Het
Vipas39 A T 12: 87,305,885 (GRCm39) S103T possibly damaging Het
Vrk1 G A 12: 106,002,811 (GRCm39) R3H probably benign Het
Wdr46 G T 17: 34,167,668 (GRCm39) R493L possibly damaging Het
Zbtb8a T C 4: 129,254,125 (GRCm39) D123G probably damaging Het
Other mutations in Pfdn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4576001:Pfdn2 UTSW 1 171,173,310 (GRCm39) missense unknown
R5094:Pfdn2 UTSW 1 171,184,067 (GRCm39) intron probably benign
R6021:Pfdn2 UTSW 1 171,173,338 (GRCm39) unclassified probably benign
R6023:Pfdn2 UTSW 1 171,184,319 (GRCm39) missense probably damaging 1.00
R6712:Pfdn2 UTSW 1 171,185,419 (GRCm39) missense probably damaging 1.00
R6980:Pfdn2 UTSW 1 171,185,465 (GRCm39) unclassified probably benign
R7332:Pfdn2 UTSW 1 171,184,162 (GRCm39) missense probably damaging 1.00
R9686:Pfdn2 UTSW 1 171,185,377 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGGCACTCAGTAAGAATGTAGTC -3'
(R):5'- AGCACTTCTTTGACAGTCCGC -3'

Sequencing Primer
(F):5'- AGAATGTAGTCTATGCCCTTCCCAAG -3'
(R):5'- TTGACAGTCCGCTCCACCAG -3'
Posted On 2022-02-07