Incidental Mutation 'R1382:Ppan'
ID 163094
Institutional Source Beutler Lab
Gene Symbol Ppan
Ensembl Gene ENSMUSG00000004100
Gene Name peter pan homolog
Synonyms A230087P06Rik, SSF1
MMRRC Submission 039444-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R1382 (G1)
Quality Score 207
Status Not validated
Chromosome 9
Chromosomal Location 20799471-20803474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20803214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 429 (K429E)
Ref Sequence ENSEMBL: ENSMUSP00000004203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004203] [ENSMUST00000004206] [ENSMUST00000214331]
AlphaFold Q91YU8
Predicted Effect probably benign
Transcript: ENSMUST00000004203
AA Change: K429E

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000004203
Gene: ENSMUSG00000004100
AA Change: K429E

DomainStartEndE-ValueType
Brix 32 286 1.13e-77 SMART
Blast:Brix 321 429 6e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000004206
SMART Domains Protein: ENSMUSP00000004206
Gene: ENSMUSG00000070319

DomainStartEndE-ValueType
Pfam:eIF3g 56 175 5.5e-45 PFAM
RRM 240 313 1.49e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213882
Predicted Effect probably benign
Transcript: ENSMUST00000214331
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
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 an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C T 15: 72,998,889 (GRCm39) C236Y probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Asap2 A G 12: 21,315,955 (GRCm39) T916A probably damaging Het
Ceacam5 T C 7: 17,486,090 (GRCm39) V529A probably benign Het
Cep192 G A 18: 67,989,370 (GRCm39) R1839Q possibly damaging Het
Cope A G 8: 70,765,513 (GRCm39) N295S probably benign Het
Crocc2 G A 1: 93,144,815 (GRCm39) probably null Het
Cuedc1 C T 11: 88,068,189 (GRCm39) P146S probably benign Het
Ddc T C 11: 11,774,856 (GRCm39) D345G possibly damaging Het
Dsg4 T A 18: 20,598,181 (GRCm39) C700S probably benign Het
Dst A T 1: 34,307,914 (GRCm39) E6224D probably damaging Het
Exo1 A G 1: 175,721,362 (GRCm39) T334A probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Glyr1 GCTGCC G 16: 4,839,209 (GRCm39) probably null Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Lemd3 A T 10: 120,767,641 (GRCm39) I711K probably damaging Het
Lrrc8b A G 5: 105,628,749 (GRCm39) D365G probably damaging Het
Mdga2 A T 12: 66,517,690 (GRCm39) I48K possibly damaging Het
Or51q1c G T 7: 103,652,927 (GRCm39) L148F probably benign Het
Pate7 T A 9: 35,689,390 (GRCm39) probably benign Het
Pdzph1 A G 17: 59,281,742 (GRCm39) V180A probably benign Het
Phactr1 T C 13: 43,286,451 (GRCm39) F584S probably damaging Het
Prkd3 A G 17: 79,264,674 (GRCm39) V647A probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptpru A G 4: 131,535,540 (GRCm39) F407S probably damaging Het
Rab3gap1 A T 1: 127,870,333 (GRCm39) T985S probably damaging Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Tet2 C T 3: 133,182,376 (GRCm39) G1196D probably damaging Het
Tub G A 7: 108,629,360 (GRCm39) V426I probably damaging Het
Wdr75 A G 1: 45,856,471 (GRCm39) Y498C probably damaging Het
Other mutations in Ppan
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01910:Ppan APN 9 20,802,232 (GRCm39) missense probably damaging 1.00
IGL03162:Ppan APN 9 20,802,608 (GRCm39) missense probably damaging 1.00
R0279:Ppan UTSW 9 20,802,825 (GRCm39) missense probably benign 0.01
R4406:Ppan UTSW 9 20,802,288 (GRCm39) missense probably damaging 1.00
R4724:Ppan UTSW 9 20,799,806 (GRCm39) missense probably benign 0.04
R5217:Ppan UTSW 9 20,802,221 (GRCm39) missense possibly damaging 0.46
R5275:Ppan UTSW 9 20,801,069 (GRCm39) nonsense probably null
R5946:Ppan UTSW 9 20,800,969 (GRCm39) nonsense probably null
R6540:Ppan UTSW 9 20,802,506 (GRCm39) splice site probably null
R7131:Ppan UTSW 9 20,802,450 (GRCm39) missense possibly damaging 0.94
R7227:Ppan UTSW 9 20,799,496 (GRCm39) unclassified probably benign
R7419:Ppan UTSW 9 20,803,140 (GRCm39) missense probably benign 0.03
R7883:Ppan UTSW 9 20,802,777 (GRCm39) missense probably benign 0.24
R9179:Ppan UTSW 9 20,803,199 (GRCm39) missense probably benign 0.00
R9357:Ppan UTSW 9 20,801,220 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- ATGACGCTGAGTATTTCCGCCAGG -3'
(R):5'- GGGCAGACATAATCCTCACAGCAG -3'

Sequencing Primer
(F):5'- ATTTCCGCCAGGCTGTG -3'
(R):5'- ACTGCTAGTCAGTGTGACACC -3'
Posted On 2014-03-17