Incidental Mutation 'R6875:Prpsap1'
ID 536391
Institutional Source Beutler Lab
Gene Symbol Prpsap1
Ensembl Gene ENSMUSG00000015869
Gene Name phosphoribosyl pyrophosphate synthetase-associated protein 1
Synonyms 5730409F23Rik, PAP39
MMRRC Submission 044971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6875 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116470845-116494202 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116471438 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 373 (S373P)
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: S373P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101999
Gene: ENSMUSG00000015869
AA Change: S373P

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
Meta Mutation Damage Score 0.3875 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T C 15: 12,812,068 (GRCm38) H270R probably damaging Het
Abcb1a T C 5: 8,701,628 (GRCm38) I336T probably benign Het
Adam19 T A 11: 46,112,875 (GRCm38) F177I probably benign Het
Ankrd53 T C 6: 83,768,173 (GRCm38) V455A probably damaging Het
Arrdc1 A G 2: 24,925,665 (GRCm38) S415P probably benign Het
Atp10a T C 7: 58,797,352 (GRCm38) L614P probably benign Het
C130060K24Rik A T 6: 65,456,336 (GRCm38) N380I probably benign Het
Catsper1 G T 19: 5,343,963 (GRCm38) V668F probably damaging Het
Cluh T A 11: 74,661,918 (GRCm38) D596E probably damaging Het
Cnot10 A G 9: 114,615,107 (GRCm38) S407P probably benign Het
Commd6 T C 14: 101,634,350 (GRCm38) T86A probably damaging Het
D5Ertd579e A T 5: 36,604,657 (GRCm38) probably null Het
Eif3l A G 15: 79,085,560 (GRCm38) D252G probably damaging Het
Epha2 A T 4: 141,328,468 (GRCm38) S962C probably damaging Het
Fcho1 C A 8: 71,714,425 (GRCm38) probably null Het
Fgf23 G T 6: 127,073,216 (GRCm38) G63C probably damaging Het
Flnc A T 6: 29,445,749 (GRCm38) Y834F probably damaging Het
Gcn1l1 T C 5: 115,588,110 (GRCm38) L608P probably damaging Het
Hdac5 T A 11: 102,202,276 (GRCm38) E545V probably damaging Het
Hecw2 A T 1: 53,937,132 (GRCm38) M166K probably benign Het
Ikbkb T C 8: 22,665,893 (GRCm38) D586G probably damaging Het
Il1f9 G C 2: 24,188,621 (GRCm38) probably null Het
Ipo13 A T 4: 117,904,911 (GRCm38) I422N possibly damaging Het
Iqgap3 GGAGAG GGAG 3: 88,112,771 (GRCm38) probably null Het
Kat6a G A 8: 22,932,361 (GRCm38) A896T probably benign Het
Kif28 A G 1: 179,735,994 (GRCm38) I139T probably damaging Het
Klhl25 A G 7: 75,866,342 (GRCm38) E332G probably damaging Het
Krt8 C T 15: 101,997,908 (GRCm38) A389T probably benign Het
Msrb3 T C 10: 120,784,106 (GRCm38) S175G probably benign Het
Muc5ac C T 7: 141,809,744 (GRCm38) probably benign Het
Myo10 T C 15: 25,805,659 (GRCm38) Y1709H probably benign Het
Nckap5 A G 1: 126,023,194 (GRCm38) S1519P probably benign Het
Npnt T A 3: 132,909,910 (GRCm38) D124V probably damaging Het
Nr1d1 A T 11: 98,770,836 (GRCm38) probably null Het
Ogdh A G 11: 6,340,477 (GRCm38) Y365C probably benign Het
Olfr1305 A T 2: 111,872,961 (GRCm38) I298N possibly damaging Het
Phf21b A T 15: 84,787,446 (GRCm38) C416S probably damaging Het
Rab28 T C 5: 41,703,534 (GRCm38) T26A probably damaging Het
Rbbp8nl A G 2: 180,279,226 (GRCm38) I455T probably benign Het
Rnft2 G A 5: 118,228,818 (GRCm38) A285V possibly damaging Het
Rrp36 G T 17: 46,672,371 (GRCm38) Q106K probably benign Het
Rsf1 CG CGACGGCGGAG 7: 97,579,908 (GRCm38) probably benign Het
Runx2 G A 17: 44,814,192 (GRCm38) P80L probably damaging Het
Scn5a A G 9: 119,486,644 (GRCm38) L1666P probably damaging Het
Siglecf A C 7: 43,355,200 (GRCm38) T318P probably benign Het
Slc22a1 C T 17: 12,667,305 (GRCm38) W147* probably null Het
Smchd1 T C 17: 71,353,506 (GRCm38) I1868V probably damaging Het
Snx21 A G 2: 164,791,902 (GRCm38) S203G probably damaging Het
Srl T C 16: 4,482,831 (GRCm38) K792R probably benign Het
Srrt A G 5: 137,298,673 (GRCm38) F100S probably benign Het
Stard9 G T 2: 120,697,436 (GRCm38) M1391I probably benign Het
Syne2 A G 12: 76,035,630 (GRCm38) E119G probably damaging Het
Syt11 G T 3: 88,762,155 (GRCm38) S143R possibly damaging Het
Tiparp T A 3: 65,531,642 (GRCm38) H126Q probably benign Het
Tulp2 C A 7: 45,518,614 (GRCm38) T150K probably benign Het
Ugt2b37 T A 5: 87,242,429 (GRCm38) Y386F probably benign Het
Usp31 C T 7: 121,649,640 (GRCm38) W860* probably null Het
Zfp317 A G 9: 19,643,665 (GRCm38) R30G probably damaging Het
Zfp709 C A 8: 71,889,007 (GRCm38) N93K possibly damaging Het
Other mutations in Prpsap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0042:Prpsap1 UTSW 11 116,479,656 (GRCm38) missense probably benign 0.42
R0684:Prpsap1 UTSW 11 116,471,491 (GRCm38) missense probably damaging 1.00
R1538:Prpsap1 UTSW 11 116,479,708 (GRCm38) missense probably benign 0.09
R2429:Prpsap1 UTSW 11 116,472,235 (GRCm38) missense probably damaging 1.00
R3415:Prpsap1 UTSW 11 116,478,584 (GRCm38) missense probably benign 0.01
R3417:Prpsap1 UTSW 11 116,478,584 (GRCm38) missense probably benign 0.01
R4035:Prpsap1 UTSW 11 116,473,008 (GRCm38) missense probably benign 0.17
R5223:Prpsap1 UTSW 11 116,488,148 (GRCm38) missense probably benign 0.09
R6216:Prpsap1 UTSW 11 116,471,413 (GRCm38) missense probably damaging 1.00
R7086:Prpsap1 UTSW 11 116,477,283 (GRCm38) missense probably benign
R7159:Prpsap1 UTSW 11 116,494,044 (GRCm38) missense probably benign 0.26
R7999:Prpsap1 UTSW 11 116,490,216 (GRCm38) start codon destroyed probably null
R8414:Prpsap1 UTSW 11 116,478,613 (GRCm38) missense probably damaging 1.00
R8940:Prpsap1 UTSW 11 116,479,789 (GRCm38) missense probably damaging 0.98
R9364:Prpsap1 UTSW 11 116,494,189 (GRCm38) start gained probably benign
Z1176:Prpsap1 UTSW 11 116,479,768 (GRCm38) missense possibly damaging 0.89
Z1176:Prpsap1 UTSW 11 116,478,618 (GRCm38) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- TACTGGAAGGTGTTACCAGCC -3'
(R):5'- TCCTGGCTCACCTGCATAAC -3'

Sequencing Primer
(F):5'- GGTGTTACCAGCCTACAACTG -3'
(R):5'- GGCTCACCTGCATAACTTTGTAC -3'
Posted On 2018-10-18