Incidental Mutation 'R4452:Ptf1a'
ID 328995
Institutional Source Beutler Lab
Gene Symbol Ptf1a
Ensembl Gene ENSMUSG00000026735
Gene Name pancreas specific transcription factor, 1a
Synonyms bHLHa29, PTF1-p48
MMRRC Submission 041713-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4452 (G1)
Quality Score 127
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: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,297,797 (GRCm39) T145A possibly damaging Het
Adgra1 G T 7: 139,432,437 (GRCm39) A92S probably benign Het
Aim2 A G 1: 173,283,010 (GRCm39) T31A possibly damaging Het
Cd46 G A 1: 194,767,668 (GRCm39) A131V possibly damaging Het
Cdc27 A T 11: 104,408,221 (GRCm39) M563K probably benign Het
Chd9 A T 8: 91,704,308 (GRCm39) N721I probably damaging Het
Cnn2 A G 10: 79,827,276 (GRCm39) D49G probably benign Het
Cul1 T A 6: 47,485,923 (GRCm39) Y323* probably null Het
D5Ertd579e A G 5: 36,773,814 (GRCm39) W194R probably damaging Het
Dhx15 G A 5: 52,324,074 (GRCm39) P406L probably benign Het
Dnah9 C T 11: 65,917,908 (GRCm39) A2249T probably damaging Het
Dppa4 T A 16: 48,109,699 (GRCm39) D106E probably benign Het
Gja10 A G 4: 32,601,313 (GRCm39) V357A probably benign Het
Gm20481 T G 17: 35,191,109 (GRCm39) probably benign Het
Grxcr2 T C 18: 42,119,609 (GRCm39) N244D probably damaging Het
Klk1b11 T A 7: 43,645,335 (GRCm39) F3I probably damaging Het
Mid1 T C X: 168,710,421 (GRCm39) V139A possibly damaging Het
Mycbp2 T C 14: 103,393,094 (GRCm39) K3046E probably damaging Het
Nfasc T C 1: 132,562,409 (GRCm39) N122S probably damaging Het
Or11j4 A T 14: 50,630,369 (GRCm39) Y52F probably benign Het
Or4c124 T A 2: 89,155,597 (GRCm39) D309V possibly damaging Het
Or52ac1 T A 7: 104,245,846 (GRCm39) M181L probably damaging Het
Or52i2 T C 7: 102,319,256 (GRCm39) V43A probably benign Het
Or8d1b T C 9: 38,887,382 (GRCm39) S137P probably benign Het
Or8h9 C T 2: 86,789,043 (GRCm39) G253D probably damaging Het
P2ry10b C T X: 106,214,724 (GRCm39) T28I probably damaging Het
Pdxdc1 T C 16: 13,654,990 (GRCm39) Y675C possibly damaging Het
Plcl1 A G 1: 55,736,045 (GRCm39) N462S probably benign Het
Pzp A G 6: 128,468,203 (GRCm39) L1028P probably damaging Het
Qrsl1 A G 10: 43,758,158 (GRCm39) S312P probably damaging Het
Sars2 A G 7: 28,449,518 (GRCm39) T349A probably benign Het
Scarb1 A T 5: 125,377,409 (GRCm39) F208I probably damaging Het
Scn8a A G 15: 100,854,972 (GRCm39) N153S possibly damaging Het
Sema4c A T 1: 36,592,837 (GRCm39) V127D probably benign Het
Smg6 C G 11: 74,880,967 (GRCm39) S931C probably benign Het
Trpm2 A T 10: 77,759,427 (GRCm39) L1119Q probably damaging Het
Ubtd2 T A 11: 32,449,406 (GRCm39) N84K probably damaging Het
Ugt2b35 A T 5: 87,151,237 (GRCm39) H281L probably damaging Het
Umodl1 T C 17: 31,213,789 (GRCm39) probably null 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
R4451: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'- CAGCGTGTCTACTTTGGAGAG -3'

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