Incidental Mutation 'R0684:Prpsap1'
ID 61082
Institutional Source Beutler Lab
Gene Symbol Prpsap1
Ensembl Gene ENSMUSG00000015869
Gene Name phosphoribosyl pyrophosphate synthetase-associated protein 1
Synonyms PAP39, 5730409F23Rik
MMRRC Submission 038869-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R0684 (G1)
Quality Score 104
Status Validated
Chromosome 11
Chromosomal Location 116361671-116385461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116362317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 355 (V355E)
Ref Sequence ENSEMBL: ENSMUSP00000101999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106391]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000106391
AA Change: V355E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101999
Gene: ENSMUSG00000015869
AA Change: V355E

DomainStartEndE-ValueType
low complexity region 5 34 N/A INTRINSIC
Pfam:Pribosyltran_N 38 155 4.8e-41 PFAM
Pfam:Pribosyl_synth 196 379 1.1e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152874
Meta Mutation Damage Score 0.6302 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.1%
  • 20x: 88.8%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,466,428 (GRCm39) L731H probably damaging Het
Adora2b C T 11: 62,139,995 (GRCm39) A23V probably benign Het
Ankrd17 T C 5: 90,411,857 (GRCm39) I1336V probably damaging Het
Asxl1 G A 2: 153,239,442 (GRCm39) R410H probably damaging Het
Atp8a2 T C 14: 60,260,593 (GRCm39) E419G probably benign Het
Atxn1l A T 8: 110,459,016 (GRCm39) N415K probably damaging Het
Bcl2l12 T A 7: 44,646,025 (GRCm39) T65S probably benign Het
Bdh2 A G 3: 134,996,774 (GRCm39) I90V probably benign Het
Bsph1 T A 7: 13,206,988 (GRCm39) N121K probably damaging Het
Cd96 T C 16: 45,938,153 (GRCm39) Y104C possibly damaging Het
Chdh T C 14: 29,753,570 (GRCm39) W160R probably damaging Het
Clock A G 5: 76,393,365 (GRCm39) F193L probably damaging Het
Copz1 A G 15: 103,204,958 (GRCm39) probably null Het
Cyp2c38 T C 19: 39,379,500 (GRCm39) T450A probably damaging Het
Cyp2d34 A T 15: 82,501,751 (GRCm39) I253K probably benign Het
Dhrs13 G T 11: 77,927,789 (GRCm39) A212S probably damaging Het
Ecsit T C 9: 21,987,796 (GRCm39) N81S probably benign Het
Efl1 A G 7: 82,301,094 (GRCm39) T33A probably damaging Het
Emid1 T C 11: 5,093,866 (GRCm39) R92G probably damaging Het
Ermp1 A G 19: 29,609,941 (GRCm39) probably benign Het
Fn1 A T 1: 71,634,968 (GRCm39) probably null Het
Hps5 A G 7: 46,432,893 (GRCm39) probably null Het
Hsd17b3 T C 13: 64,236,882 (GRCm39) M21V probably benign Het
Kat6b T C 14: 21,718,849 (GRCm39) V1176A probably benign Het
Midn A G 10: 79,992,336 (GRCm39) K463E probably damaging Het
Mier1 A G 4: 102,996,631 (GRCm39) E103G probably damaging Het
Muc15 A G 2: 110,564,160 (GRCm39) N232S possibly damaging Het
Ncoa2 T A 1: 13,294,875 (GRCm39) E15V probably damaging Het
Or10a5 A T 7: 106,635,889 (GRCm39) N176Y probably damaging Het
Or2n1d A G 17: 38,646,735 (GRCm39) K229R probably benign Het
Or52n2b T A 7: 104,565,841 (GRCm39) T221S probably benign Het
Pate14 C T 9: 36,549,176 (GRCm39) G28E probably benign Het
Pigf A T 17: 87,327,923 (GRCm39) F115I probably benign Het
Ptprk G T 10: 28,359,294 (GRCm39) probably benign Het
Rae1 G A 2: 172,846,957 (GRCm39) R67H probably damaging Het
Sema3a G A 5: 13,606,494 (GRCm39) probably null Het
Slc22a22 T C 15: 57,126,758 (GRCm39) T104A probably benign Het
Slc38a2 A T 15: 96,593,168 (GRCm39) L137* probably null Het
Smgc A G 15: 91,725,670 (GRCm39) probably benign Het
Syce3 A G 15: 89,274,648 (GRCm39) probably benign Het
Syt9 T A 7: 107,024,343 (GRCm39) W79R probably damaging Het
Tgoln1 A C 6: 72,592,974 (GRCm39) S169A probably benign Het
Thnsl1 A G 2: 21,216,477 (GRCm39) D77G probably benign Het
Tsr1 T A 11: 74,798,767 (GRCm39) V712E probably damaging Het
Wdr12 C T 1: 60,128,525 (GRCm39) probably benign Het
Xdh T A 17: 74,250,886 (GRCm39) N22I probably damaging Het
Zfp3 T A 11: 70,662,395 (GRCm39) L118Q probably benign Het
Zfp592 A G 7: 80,687,623 (GRCm39) N883D probably benign Het
Zfp609 T A 9: 65,638,483 (GRCm39) M250L probably benign Het
Zfp94 A T 7: 24,002,495 (GRCm39) S316T probably damaging Het
Zfp955b A G 17: 33,521,947 (GRCm39) N472S probably benign Het
Other mutations in Prpsap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0042:Prpsap1 UTSW 11 116,370,482 (GRCm39) missense probably benign 0.42
R1538:Prpsap1 UTSW 11 116,370,534 (GRCm39) missense probably benign 0.09
R2429:Prpsap1 UTSW 11 116,363,061 (GRCm39) missense probably damaging 1.00
R3415:Prpsap1 UTSW 11 116,369,410 (GRCm39) missense probably benign 0.01
R3417:Prpsap1 UTSW 11 116,369,410 (GRCm39) missense probably benign 0.01
R4035:Prpsap1 UTSW 11 116,363,834 (GRCm39) missense probably benign 0.17
R5223:Prpsap1 UTSW 11 116,378,974 (GRCm39) missense probably benign 0.09
R6216:Prpsap1 UTSW 11 116,362,239 (GRCm39) missense probably damaging 1.00
R6875:Prpsap1 UTSW 11 116,362,264 (GRCm39) missense probably damaging 1.00
R7086:Prpsap1 UTSW 11 116,368,109 (GRCm39) missense probably benign
R7159:Prpsap1 UTSW 11 116,384,870 (GRCm39) missense probably benign 0.26
R7999:Prpsap1 UTSW 11 116,381,042 (GRCm39) start codon destroyed probably null
R8414:Prpsap1 UTSW 11 116,369,439 (GRCm39) missense probably damaging 1.00
R8940:Prpsap1 UTSW 11 116,370,615 (GRCm39) missense probably damaging 0.98
R9364:Prpsap1 UTSW 11 116,385,015 (GRCm39) start gained probably benign
Z1176:Prpsap1 UTSW 11 116,370,594 (GRCm39) missense possibly damaging 0.89
Z1176:Prpsap1 UTSW 11 116,369,444 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- TACCAGCCTACAACTGGATGCCTG -3'
(R):5'- AGCCCTGGATGCTTGGTTTGTAAAG -3'

Sequencing Primer
(F):5'- GATGCCTGCTTATTCAGCAGAAC -3'
(R):5'- cgttcagtccccagtacc -3'
Posted On 2013-07-30