Incidental Mutation 'R4451:Ptf1a'
ID 328949
Institutional Source Beutler Lab
Gene Symbol Ptf1a
Ensembl Gene ENSMUSG00000026735
Gene Name pancreas specific transcription factor, 1a
Synonyms bHLHa29, PTF1-p48
MMRRC Submission 041712-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4451 (G1)
Quality Score 161
Status Validated
Chromosome 2
Chromosomal Location 19450474-19452312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 19451092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 141 (A141S)
Ref Sequence ENSEMBL: ENSMUSP00000028068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028068]
AlphaFold Q9QX98
Predicted Effect possibly damaging
Transcript: ENSMUST00000028068
AA Change: A141S

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028068
Gene: ENSMUSG00000026735
AA Change: A141S

DomainStartEndE-ValueType
low complexity region 66 86 N/A INTRINSIC
low complexity region 131 151 N/A INTRINSIC
HLH 166 218 6.65e-20 SMART
low complexity region 221 240 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122978
Meta Mutation Damage Score 0.0714 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show neonatal death, exocrine pancreas and cerebellum agenesis, hypoglycemia and relocation of endocrine cells to the spleen. Knock-in mutations can lead to neonatal death, absent pancreas, altered GABAergic neuronal fate and retinal dysplasia due to misspecified retinal precursors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 A C 5: 62,906,513 (GRCm39) F169V probably benign Het
Baiap2l1 T A 5: 144,215,362 (GRCm39) Y381F probably damaging Het
Cdc27 A T 11: 104,408,221 (GRCm39) M563K probably benign Het
Cela3b G A 4: 137,148,355 (GRCm39) probably benign Het
Cyp2c29 A T 19: 39,279,270 (GRCm39) D50V probably damaging Het
Dbpht2 A T 12: 74,345,806 (GRCm39) noncoding transcript Het
Dnah9 T A 11: 65,772,467 (GRCm39) Q3755L probably benign Het
Dnajc2 T C 5: 21,962,792 (GRCm39) T588A possibly damaging Het
Dync2h1 T A 9: 6,983,477 (GRCm39) R4022S probably benign Het
Gm20481 T G 17: 35,191,109 (GRCm39) probably benign Het
Gm7347 A G 5: 26,260,004 (GRCm39) I182T possibly damaging Het
Gns G A 10: 121,212,601 (GRCm39) G188S probably damaging Het
Grm5 T G 7: 87,724,340 (GRCm39) probably null Het
Gstm4 T C 3: 107,951,291 (GRCm39) probably null Het
Il7r T A 15: 9,513,034 (GRCm39) K158N probably benign Het
Irs1 T C 1: 82,266,749 (GRCm39) Y489C probably benign Het
Kcns1 C T 2: 164,010,598 (GRCm39) E54K possibly damaging Het
Klra5 T A 6: 129,885,797 (GRCm39) R31* probably null Het
Krt13 T C 11: 100,008,827 (GRCm39) T409A unknown Het
Lce1e C T 3: 92,614,967 (GRCm39) G127S unknown Het
Mfsd14a T C 3: 116,456,127 (GRCm39) M1V probably null Het
Micall2 T C 5: 139,692,852 (GRCm39) E891G probably damaging Het
Mpeg1 A T 19: 12,440,596 (GRCm39) K685* probably null Het
Nbea A G 3: 55,899,753 (GRCm39) probably null Het
Nup155 A G 15: 8,180,366 (GRCm39) M1148V probably benign Het
Or51aa5 A G 7: 103,167,184 (GRCm39) S136P probably damaging Het
Or5m3b T C 2: 85,872,303 (GRCm39) S215P probably damaging Het
Otof T A 5: 30,542,508 (GRCm39) D695V possibly damaging Het
Pxmp2 A T 5: 110,425,531 (GRCm39) V168E probably damaging Het
Rab11fip1 T C 8: 27,644,505 (GRCm39) K427E probably damaging Het
Susd2 A G 10: 75,475,232 (GRCm39) V526A probably damaging Het
Tbx2 T C 11: 85,731,643 (GRCm39) S647P probably damaging Het
Tg A G 15: 66,637,996 (GRCm39) T651A probably benign Het
Trim68 T A 7: 102,333,680 (GRCm39) M1L probably damaging Het
Ttn A C 2: 76,584,250 (GRCm39) L20540* probably null Het
Usf3 A T 16: 44,038,251 (GRCm39) K910N possibly damaging Het
Vmn1r14 T G 6: 57,211,213 (GRCm39) Y220D possibly damaging Het
Vmn1r209 T A 13: 22,990,668 (GRCm39) K7N probably benign Het
Other mutations in Ptf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Ptf1a APN 2 19,451,429 (GRCm39) missense probably damaging 1.00
IGL01934:Ptf1a APN 2 19,451,431 (GRCm39) missense possibly damaging 0.60
IGL03153:Ptf1a APN 2 19,451,456 (GRCm39) splice site probably benign
R3236:Ptf1a UTSW 2 19,450,718 (GRCm39) missense probably damaging 1.00
R4170:Ptf1a UTSW 2 19,451,819 (GRCm39) missense possibly damaging 0.95
R4452:Ptf1a UTSW 2 19,451,092 (GRCm39) missense possibly damaging 0.71
R4788:Ptf1a UTSW 2 19,450,762 (GRCm39) missense probably benign 0.05
R5533:Ptf1a UTSW 2 19,451,969 (GRCm39) missense probably damaging 1.00
R6513:Ptf1a UTSW 2 19,451,848 (GRCm39) missense probably damaging 1.00
R7082:Ptf1a UTSW 2 19,450,676 (GRCm39) missense possibly damaging 0.73
R7342:Ptf1a UTSW 2 19,451,977 (GRCm39) makesense probably null
R8215:Ptf1a UTSW 2 19,450,760 (GRCm39) missense possibly damaging 0.88
R8394:Ptf1a UTSW 2 19,450,746 (GRCm39) missense probably damaging 1.00
R9037:Ptf1a UTSW 2 19,451,036 (GRCm39) missense possibly damaging 0.90
R9178:Ptf1a UTSW 2 19,450,536 (GRCm39) start gained probably benign
R9766:Ptf1a UTSW 2 19,451,062 (GRCm39) missense probably benign 0.18
R9784:Ptf1a UTSW 2 19,451,381 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACGAATACTGCTACCGCGAC -3'
(R):5'- ACTTTGGAGAGGCGCTTTTC -3'

Sequencing Primer
(F):5'- TCAGCTATTGCTGCGATG -3'
(R):5'- AGGCGCTTTTCGTAGGGTAGC -3'
Posted On 2015-07-21