Incidental Mutation 'R5777:Pgf'
ID 446782
Institutional Source Beutler Lab
Gene Symbol Pgf
Ensembl Gene ENSMUSG00000004791
Gene Name placental growth factor
Synonyms placenta growth factor, PLGF, PIGF
Accession Numbers
Essential gene? Possibly essential (E-score: 0.554) question?
Stock # R5777 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85213411-85224559 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85216148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 157 (T157A)
Ref Sequence ENSEMBL: ENSMUSP00000152165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004913] [ENSMUST00000223220]
AlphaFold P49764
Predicted Effect possibly damaging
Transcript: ENSMUST00000004913
AA Change: T153A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000004913
Gene: ENSMUSG00000004791
AA Change: T153A

DomainStartEndE-ValueType
PDGF 46 129 2.96e-49 SMART
low complexity region 133 149 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222850
Predicted Effect possibly damaging
Transcript: ENSMUST00000223220
AA Change: T157A

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a growth factor found in placenta which is homologous to vascular endothelial growth factor. Alternatively spliced transcripts encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display subtle abnormalities related to reduced angiogenesis. Body weight at birth is reduced and body fat is significantly reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,294,000 (GRCm39) E41G probably benign Het
Amph A T 13: 19,230,186 (GRCm39) N45Y probably damaging Het
Atp11a T A 8: 12,882,522 (GRCm39) L470Q probably damaging Het
C130073F10Rik T A 4: 101,747,946 (GRCm39) Y76F possibly damaging Het
Casp12 A T 9: 5,354,548 (GRCm39) I306F probably benign Het
Cobll1 A T 2: 64,933,612 (GRCm39) M460K probably benign Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Ctdsp1 T C 1: 74,433,227 (GRCm39) V131A probably damaging Het
Ctnna3 A G 10: 64,511,664 (GRCm39) H618R probably benign Het
Dhx38 C A 8: 110,283,534 (GRCm39) V538L possibly damaging Het
Dtwd1 A G 2: 126,001,733 (GRCm39) D151G probably damaging Het
Fbxw28 A G 9: 109,167,604 (GRCm39) L51P probably damaging Het
Gm4781 C T 10: 100,232,831 (GRCm39) noncoding transcript Het
Gm5134 C A 10: 75,840,594 (GRCm39) F479L probably benign Het
H2bc27 A G 11: 58,839,835 (GRCm39) K24E probably benign Het
Hexa T G 9: 59,468,243 (GRCm39) V290G probably damaging Het
Ifi206 C T 1: 173,308,928 (GRCm39) R356K possibly damaging Het
Kcnj12 G A 11: 60,961,277 (GRCm39) R525Q possibly damaging Het
Lrp2 A T 2: 69,285,869 (GRCm39) I3774N probably damaging Het
Msh4 C A 3: 153,569,076 (GRCm39) M832I probably benign Het
Myh10 A G 11: 68,676,685 (GRCm39) E852G probably damaging Het
Ndufaf1 A T 2: 119,490,963 (GRCm39) C32* probably null Het
Nos2 A G 11: 78,830,978 (GRCm39) E387G probably null Het
Or4f58 C T 2: 111,851,876 (GRCm39) G108R probably damaging Het
Or55b10 A G 7: 102,143,178 (GRCm39) V268A probably benign Het
Or5h27 T A 16: 59,006,266 (GRCm39) L193F unknown Het
Or7a36 A C 10: 78,820,512 (GRCm39) D296A possibly damaging Het
Or7g29 A T 9: 19,287,014 (GRCm39) H54Q probably benign Het
Or8j3c A G 2: 86,253,669 (GRCm39) V117A probably benign Het
P3h3 T C 6: 124,832,921 (GRCm39) T211A probably benign Het
Pcdh7 A G 5: 57,876,856 (GRCm39) N137S probably damaging Het
Prex1 T C 2: 166,428,579 (GRCm39) D714G probably damaging Het
Scn7a T C 2: 66,522,913 (GRCm39) I930M probably damaging Het
Siglecg T C 7: 43,058,837 (GRCm39) S197P possibly damaging Het
Skint7 T A 4: 111,845,289 (GRCm39) I367N probably benign Het
Slfn5 A T 11: 82,851,830 (GRCm39) D652V probably damaging Het
Stx1b G A 7: 127,410,090 (GRCm39) Q3* probably null Het
Tex35 T C 1: 156,934,777 (GRCm39) M46V probably benign Het
Tkt A C 14: 30,280,733 (GRCm39) T55P possibly damaging Het
Trim30c T C 7: 104,032,538 (GRCm39) R263G probably benign Het
U2af2 G A 7: 5,069,450 (GRCm39) R33Q probably benign Het
Washc4 T A 10: 83,391,469 (GRCm39) V182D probably damaging Het
Xirp2 T C 2: 67,340,348 (GRCm39) V863A possibly damaging Het
Zfp976 T G 7: 42,263,504 (GRCm39) H111P probably benign Het
Zfp982 A T 4: 147,595,321 (GRCm39) N48Y probably damaging Het
Other mutations in Pgf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Pgf APN 12 85,218,510 (GRCm39) missense probably damaging 1.00
IGL02252:Pgf APN 12 85,216,199 (GRCm39) splice site probably benign
R0324:Pgf UTSW 12 85,218,198 (GRCm39) missense probably benign 0.29
R0658:Pgf UTSW 12 85,216,159 (GRCm39) missense probably benign
R1168:Pgf UTSW 12 85,218,541 (GRCm39) missense probably benign 0.02
R1778:Pgf UTSW 12 85,218,541 (GRCm39) missense probably benign 0.02
R4191:Pgf UTSW 12 85,218,561 (GRCm39) missense probably benign 0.03
R4820:Pgf UTSW 12 85,218,538 (GRCm39) missense probably benign 0.04
R7211:Pgf UTSW 12 85,222,549 (GRCm39) missense probably benign 0.41
RF012:Pgf UTSW 12 85,216,316 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ATTAAAGTCCCTGGATGCGCC -3'
(R):5'- CCCTAGACCTATTCTGGAGACGAC -3'

Sequencing Primer
(F):5'- GGAACTCACTTTGTAGAGCTCGAAC -3'
(R):5'- CCTATTCTGGAGACGACAAAGGC -3'
Posted On 2016-12-15