Incidental Mutation 'R6811:Pdx1'
ID 533799
Institutional Source Beutler Lab
Gene Symbol Pdx1
Ensembl Gene ENSMUSG00000029644
Gene Name pancreatic and duodenal homeobox 1
Synonyms STF-1, pdx-1, Ipf1, IDX-1, Mody4, IPF-1
MMRRC Submission 045018-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6811 (G1)
Quality Score 152.008
Status Not validated
Chromosome 5
Chromosomal Location 147206907-147212658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 147211474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 232 (S232P)
Ref Sequence ENSEMBL: ENSMUSP00000082729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085591]
AlphaFold P52946
Predicted Effect possibly damaging
Transcript: ENSMUST00000085591
AA Change: S232P

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082729
Gene: ENSMUSG00000029644
AA Change: S232P

DomainStartEndE-ValueType
low complexity region 78 109 N/A INTRINSIC
HOX 147 209 4.67e-27 SMART
low complexity region 211 225 N/A INTRINSIC
low complexity region 236 257 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.1%
  • 20x: 97.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal pancreatic and liver development, and increased plasma glucose levels. Mice heterozygous for a knock-out allele exhibit abnormal pancreatic development and abnormal glucose homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,401,210 (GRCm39) S69P probably damaging Het
Alkbh7 G T 17: 57,304,392 (GRCm39) R10L probably benign Het
Ano3 T C 2: 110,711,212 (GRCm39) E84G probably benign Het
Asxl3 A G 18: 22,655,968 (GRCm39) E1326G possibly damaging Het
Atrnl1 T G 19: 57,643,393 (GRCm39) M427R probably damaging Het
Cenpf T C 1: 189,386,739 (GRCm39) E1847G probably benign Het
Csf1r T C 18: 61,252,125 (GRCm39) Y536H probably damaging Het
Dnm3 T C 1: 162,148,652 (GRCm39) K240E probably damaging Het
Dsc1 T G 18: 20,222,711 (GRCm39) E587A probably benign Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gm19965 G T 1: 116,731,809 (GRCm39) L38F probably damaging Het
Helz T C 11: 107,510,144 (GRCm39) probably null Het
Herc2 C T 7: 55,763,181 (GRCm39) R929* probably null Het
Iqcn T C 8: 71,169,422 (GRCm39) S1171P probably benign Het
Krt31 A G 11: 99,939,242 (GRCm39) L225P probably damaging Het
Lrp1b T C 2: 40,605,512 (GRCm39) probably null Het
Lrp1b A G 2: 41,339,206 (GRCm39) V765A probably benign Het
Lsm5 A G 6: 56,679,127 (GRCm39) I34T possibly damaging Het
Ly6g6c T C 17: 35,288,386 (GRCm39) L86P probably damaging Het
Meak7 A T 8: 120,495,029 (GRCm39) I243N possibly damaging Het
Megf11 A G 9: 64,451,923 (GRCm39) T116A probably damaging Het
Megf6 T C 4: 154,336,618 (GRCm39) C190R probably damaging Het
Mroh9 A G 1: 162,873,610 (GRCm39) V515A possibly damaging Het
Mtbp C A 15: 55,469,942 (GRCm39) probably null Het
Myo9b T A 8: 71,809,222 (GRCm39) F1810L probably damaging Het
Nacad T G 11: 6,549,400 (GRCm39) K180Q possibly damaging Het
Ncf2 G A 1: 152,711,791 (GRCm39) V502I probably benign Het
Npsr1 T A 9: 24,046,105 (GRCm39) C75S probably benign Het
Oog3 T C 4: 143,886,152 (GRCm39) T149A probably benign Het
Pank1 T A 19: 34,818,422 (GRCm39) Q39L probably benign Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pirb A T 7: 3,722,641 (GRCm39) V117E possibly damaging Het
Ppl G A 16: 4,907,008 (GRCm39) L1096F probably damaging Het
Rev3l T A 10: 39,706,917 (GRCm39) Y2223* probably null Het
Slc16a4 A G 3: 107,206,233 (GRCm39) Y101C probably benign Het
Slc17a3 A T 13: 24,039,924 (GRCm39) I321F possibly damaging Het
Sufu T A 19: 46,438,317 (GRCm39) D168E probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Vmn1r237 T G 17: 21,534,648 (GRCm39) S124A probably benign Het
Vmn2r60 T A 7: 41,844,310 (GRCm39) C558S probably damaging Het
Vwa5b1 G A 4: 138,319,414 (GRCm39) T414I probably benign Het
Zbtb47 T C 9: 121,595,595 (GRCm39) S573P probably damaging Het
Zfp971 T G 2: 177,675,674 (GRCm39) C424W possibly damaging Het
Other mutations in Pdx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01724:Pdx1 APN 5 147,211,217 (GRCm39) missense probably damaging 0.99
IGL02729:Pdx1 APN 5 147,211,424 (GRCm39) missense probably benign 0.21
R6500:Pdx1 UTSW 5 147,207,440 (GRCm39) missense probably damaging 0.99
R6722:Pdx1 UTSW 5 147,207,310 (GRCm39) missense probably damaging 1.00
R8253:Pdx1 UTSW 5 147,207,459 (GRCm39) critical splice donor site probably null
R9358:Pdx1 UTSW 5 147,207,064 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TATTTAACAAATACATCTCCCGGCC -3'
(R):5'- TCTTCTTGTGCGACGCCTAG -3'

Sequencing Primer
(F):5'- CAAAACCGTCGCATGAAG -3'
(R):5'- TGCGACGCCTAGGTTAAGTTCC -3'
Posted On 2018-09-12