Incidental Mutation 'R4170:Ptf1a'
ID 320726
Institutional Source Beutler Lab
Gene Symbol Ptf1a
Ensembl Gene ENSMUSG00000026735
Gene Name pancreas specific transcription factor, 1a
Synonyms bHLHa29, PTF1-p48
MMRRC Submission 040863-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4170 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 19450474-19452312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19451819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 273 (L273F)
Ref Sequence ENSEMBL: ENSMUSP00000028068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028068]
AlphaFold Q9QX98
Predicted Effect possibly damaging
Transcript: ENSMUST00000028068
AA Change: L273F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028068
Gene: ENSMUSG00000026735
AA Change: L273F

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: ENSMUST00000070378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122978
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700047A11Rik T A 8: 26,585,815 (GRCm39) T63S probably benign Het
Acap3 T A 4: 155,984,458 (GRCm39) S189T possibly damaging Het
Acsbg2 G A 17: 57,160,846 (GRCm39) T266I probably benign Het
Cacna1s A G 1: 136,035,933 (GRCm39) D1144G probably damaging Het
Diaph3 T C 14: 87,223,143 (GRCm39) D365G probably damaging Het
Dock7 T A 4: 98,854,638 (GRCm39) D1542V probably damaging Het
Efr3a T A 15: 65,717,831 (GRCm39) V337D probably damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Ercc6 T C 14: 32,288,754 (GRCm39) L867P probably damaging Het
Gdf6 A G 4: 9,859,650 (GRCm39) D244G probably benign Het
Get1 G A 16: 95,954,176 (GRCm39) A92T probably benign Het
Gzmn T C 14: 56,404,261 (GRCm39) D192G possibly damaging Het
Krt81 T A 15: 101,359,193 (GRCm39) M242L probably benign Het
Lysmd3 C T 13: 81,817,529 (GRCm39) Q169* probably null Het
Man2c1 A G 9: 57,045,310 (GRCm39) D473G probably benign Het
Mmp23 C T 4: 155,735,767 (GRCm39) R268Q probably damaging Het
Or1j17 C A 2: 36,578,734 (GRCm39) T240N probably damaging Het
Or5p58 T A 7: 107,694,280 (GRCm39) I166L probably benign Het
Prmt3 G T 7: 49,476,524 (GRCm39) A378S probably benign Het
Ptpru A T 4: 131,503,659 (GRCm39) Y1124N probably damaging Het
Rtkn T G 6: 83,119,376 (GRCm39) M1R probably null Het
Rttn T A 18: 88,993,847 (GRCm39) F175I probably damaging Het
Slc5a7 T C 17: 54,583,886 (GRCm39) D468G probably benign Het
Slc9a9 A G 9: 95,110,952 (GRCm39) Y590C probably damaging Het
Smarcd1 T C 15: 99,605,812 (GRCm39) L320P probably damaging Het
Sox2 A T 3: 34,704,703 (GRCm39) M47L probably damaging Het
Sptan1 T C 2: 29,920,037 (GRCm39) M2258T possibly damaging Het
Tnrc6b T A 15: 80,800,988 (GRCm39) D1431E probably benign Het
Trav8n-2 A T 14: 53,583,875 (GRCm39) T111S possibly damaging Het
Tut4 A G 4: 108,405,256 (GRCm39) Y1293C probably damaging Het
Zbtb46 T C 2: 181,066,148 (GRCm39) M1V probably null Het
Zfp7 T C 15: 76,775,818 (GRCm39) V620A probably benign Het
Zfp804a T A 2: 82,083,832 (GRCm39) F95I probably damaging 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
R4451:Ptf1a UTSW 2 19,451,092 (GRCm39) missense possibly damaging 0.71
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'- TGATATTTGACCAAGGACGAGC -3'
(R):5'- AACCCGATGTGAGCTGTCTC -3'

Sequencing Primer
(F):5'- AGACACACACCTCCTTGGGTTC -3'
(R):5'- TGAGCTGTCTCAGGACACAAACTC -3'
Posted On 2015-06-12