Incidental Mutation 'R6722:Pdx1'
ID 529629
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 044840-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6722 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 147206907-147212658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 147207310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 88 (P88S)
Ref Sequence ENSEMBL: ENSMUSP00000082729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085591]
AlphaFold P52946
Predicted Effect probably damaging
Transcript: ENSMUST00000085591
AA Change: P88S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082729
Gene: ENSMUSG00000029644
AA Change: P88S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201192
Meta Mutation Damage Score 0.1208 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (52/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T G 12: 81,468,228 (GRCm39) D131A probably damaging Het
Ank3 T C 10: 69,826,074 (GRCm39) probably benign Het
Atp1a4 T C 1: 172,085,617 (GRCm39) probably benign Het
Bmal2 T A 6: 146,720,398 (GRCm39) D187E probably damaging Het
Castor2 T C 5: 134,164,458 (GRCm39) S140P probably benign Het
Ccdc162 T C 10: 41,520,637 (GRCm39) N673S probably benign Het
Cd84 G A 1: 171,700,344 (GRCm39) V154M probably damaging Het
Celsr1 C A 15: 85,790,115 (GRCm39) probably null Het
Cfap57 A C 4: 118,441,914 (GRCm39) L718R probably damaging Het
Cntnap5b G A 1: 100,406,211 (GRCm39) V803M probably damaging Het
Col6a2 C T 10: 76,450,392 (GRCm39) V180I probably damaging Het
Coq4 A T 2: 29,678,297 (GRCm39) probably benign Het
Cyp2a4 A G 7: 26,012,983 (GRCm39) T389A probably benign Het
Dennd1c T C 17: 57,373,802 (GRCm39) D587G probably benign Het
Dnaja4 A G 9: 54,607,038 (GRCm39) D9G probably damaging Het
Hes2 T G 4: 152,244,834 (GRCm39) L101R probably damaging Het
Icam2 A G 11: 106,273,307 (GRCm39) S2P probably damaging Het
Krt31 A G 11: 99,939,254 (GRCm39) L221P probably damaging Het
Lipm A T 19: 34,098,665 (GRCm39) N380Y probably benign Het
Lrp2bp G A 8: 46,473,600 (GRCm39) probably null Het
Mbd2 T A 18: 70,713,819 (GRCm39) M216K probably damaging Het
Mrps33 T C 6: 39,782,599 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,462,060 (GRCm39) D1459G probably damaging Het
Ncapd3 T C 9: 26,998,852 (GRCm39) S1281P probably benign Het
Nt5c1b T A 12: 10,422,874 (GRCm39) Y56N possibly damaging Het
Nthl1 A G 17: 24,853,008 (GRCm39) K71E probably benign Het
Or4f62 T A 2: 111,987,227 (GRCm39) N310K probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pde4a G A 9: 21,122,521 (GRCm39) A806T probably damaging Het
Pde4d C A 13: 109,769,432 (GRCm39) S40* probably null Het
Pde4dip G A 3: 97,625,555 (GRCm39) R1348* probably null Het
Pnisr T A 4: 21,859,165 (GRCm39) V120D probably damaging Het
Prss51 G T 14: 64,332,508 (GRCm39) C65F probably damaging Het
Pus10 G A 11: 23,652,975 (GRCm39) E195K possibly damaging Het
Pzp T A 6: 128,464,917 (GRCm39) Q1319L probably damaging Het
Rbpms G T 8: 34,324,421 (GRCm39) T101K probably damaging Het
Rundc3a A G 11: 102,290,775 (GRCm39) N281S possibly damaging Het
Scml4 C T 10: 42,736,728 (GRCm39) probably benign Het
Sez6 T C 11: 77,844,528 (GRCm39) V117A probably damaging Het
Sgsm2 A C 11: 74,756,250 (GRCm39) C366W probably damaging Het
Slc12a4 T C 8: 106,670,882 (GRCm39) probably null Het
Smg5 C T 3: 88,260,332 (GRCm39) R641C probably damaging Het
Stxbp3 A G 3: 108,723,762 (GRCm39) Y150H probably benign Het
Thoc2l T A 5: 104,668,145 (GRCm39) M889K probably damaging Het
Tkt T C 14: 30,291,041 (GRCm39) F351S probably damaging Het
Tln1 A G 4: 43,547,618 (GRCm39) L781P probably damaging Het
Triobp G A 15: 78,885,765 (GRCm39) E1823K probably damaging Het
Ttll4 T C 1: 74,720,948 (GRCm39) V538A possibly damaging Het
Uba52rt A G 4: 3,973,386 (GRCm39) Y59H probably benign Het
Vmn1r61 T A 7: 5,613,687 (GRCm39) N209I possibly damaging Het
Wdr75 T A 1: 45,844,512 (GRCm39) probably null Het
Zfp985 T C 4: 147,667,528 (GRCm39) V132A probably benign Het
Zswim3 T A 2: 164,662,544 (GRCm39) probably null 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
R6811:Pdx1 UTSW 5 147,211,474 (GRCm39) missense possibly damaging 0.83
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'- TGCCAGAGTTCAGCGCTAAC -3'
(R):5'- ACTTGTGAGAAAAGGCCCGG -3'

Sequencing Primer
(F):5'- CAGTTTACAAGCTCGCTG -3'
(R):5'- TTCTTGAAGGCAGTAGCAGC -3'
Posted On 2018-08-01