Incidental Mutation 'R6712:Pfdn2'
ID 529164
Institutional Source Beutler Lab
Gene Symbol Pfdn2
Ensembl Gene ENSMUSG00000006412
Gene Name prefoldin 2
Synonyms W48336, ESTM27
MMRRC Submission 044830-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6712 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 171173238-171186822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 171185419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 97 (I97K)
Ref Sequence ENSEMBL: ENSMUSP00000120106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006579] [ENSMUST00000061878] [ENSMUST00000135941]
AlphaFold O70591
Predicted Effect unknown
Transcript: ENSMUST00000006579
AA Change: Y112N
SMART Domains Protein: ENSMUSP00000006579
Gene: ENSMUSG00000006412
AA Change: Y112N

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: I97K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120106
Gene: ENSMUSG00000006412
AA Change: I97K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192266
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l G A 17: 32,551,862 (GRCm39) T443M probably damaging Het
Ankmy1 A T 1: 92,798,644 (GRCm39) V950D probably damaging Het
Cep350 T C 1: 155,733,852 (GRCm39) K3014E possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dmxl2 A G 9: 54,318,908 (GRCm39) Y1586H probably damaging Het
Dnah11 A T 12: 118,014,457 (GRCm39) I2010N probably damaging Het
Dock10 T A 1: 80,514,583 (GRCm39) M1446L probably benign Het
Fcmr T C 1: 130,805,588 (GRCm39) L274P probably damaging Het
Foxn1 T G 11: 78,252,085 (GRCm39) D382A probably damaging Het
Gpr179 T C 11: 97,226,993 (GRCm39) R1721G possibly damaging Het
H2aj A G 6: 136,785,524 (GRCm39) I63V probably benign Het
Mfsd9 T C 1: 40,825,601 (GRCm39) probably null Het
Mis18a T C 16: 90,524,045 (GRCm39) E39G possibly damaging Het
Mmp27 A T 9: 7,572,177 (GRCm39) T126S probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Myo5a A C 9: 75,120,182 (GRCm39) D1635A probably benign Het
Ngdn T C 14: 55,253,645 (GRCm39) V11A probably benign Het
Nlrc4 A T 17: 74,753,831 (GRCm39) M184K probably damaging Het
Or10h28 T G 17: 33,488,242 (GRCm39) H181Q possibly damaging Het
Or52e15 A T 7: 104,645,625 (GRCm39) I162K possibly damaging Het
Peli2 C A 14: 48,488,051 (GRCm39) Q81K probably benign Het
Pknox1 C A 17: 31,814,290 (GRCm39) T205K probably benign Het
Polh T C 17: 46,501,655 (GRCm39) S179G probably benign Het
Ppp4r4 G A 12: 103,562,702 (GRCm39) R557Q probably damaging Het
Sipa1 A T 19: 5,710,847 (GRCm39) D54E possibly damaging Het
Tmc8 C A 11: 117,675,639 (GRCm39) N185K probably benign Het
Tns1 C A 1: 74,118,460 (GRCm39) E57* probably null Het
Tyro3 G A 2: 119,635,335 (GRCm39) A209T probably null Het
Ube2f T A 1: 91,204,171 (GRCm39) C116S possibly damaging Het
Vmn1r231 T C 17: 21,109,992 (GRCm39) T308A possibly damaging Het
Wwc2 T A 8: 48,353,838 (GRCm39) M99L probably benign Het
Zfp516 C T 18: 82,975,433 (GRCm39) R544C probably damaging Het
Zfp764l1 A T 7: 126,991,482 (GRCm39) H168Q 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
R6980:Pfdn2 UTSW 1 171,185,465 (GRCm39) unclassified probably benign
R7332:Pfdn2 UTSW 1 171,184,162 (GRCm39) missense probably damaging 1.00
R9174:Pfdn2 UTSW 1 171,184,164 (GRCm39) missense probably damaging 0.99
R9686:Pfdn2 UTSW 1 171,185,377 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGGTTAGACTCATGGGCCAC -3'
(R):5'- AGGCCTTAGCTCCTAAGAGACC -3'

Sequencing Primer
(F):5'- GGTTAGACTCATGGGCCACAAAAC -3'
(R):5'- CAACACCCCTGCTGAGCTG -3'
Posted On 2018-07-24