Incidental Mutation 'R7086:Prpsap1'
ID 549911
Institutional Source Beutler Lab
Gene Symbol Prpsap1
Ensembl Gene ENSMUSG00000015869
Gene Name phosphoribosyl pyrophosphate synthetase-associated protein 1
Synonyms PAP39, 5730409F23Rik
MMRRC Submission 045180-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R7086 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116361671-116385461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116368109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 234 (T234A)
Ref Sequence ENSEMBL: ENSMUSP00000101999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106391] [ENSMUST00000135196] [ENSMUST00000152496]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000106391
AA Change: T234A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101999
Gene: ENSMUSG00000015869
AA Change: T234A

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 probably benign
Transcript: ENSMUST00000135196
SMART Domains Protein: ENSMUSP00000119576
Gene: ENSMUSG00000015869

DomainStartEndE-ValueType
low complexity region 5 34 N/A INTRINSIC
Pfam:Pribosyltran_N 38 160 2.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152496
SMART Domains Protein: ENSMUSP00000115982
Gene: ENSMUSG00000015869

DomainStartEndE-ValueType
Pfam:Pribosyltran_N 17 119 1.7e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,068,635 (GRCm39) H28R probably damaging Het
Adgre4 T C 17: 56,127,649 (GRCm39) I563T probably benign Het
Ankub1 A T 3: 57,597,746 (GRCm39) C75S probably damaging Het
Antxrl G A 14: 33,787,873 (GRCm39) V299I probably benign Het
Arfgef2 T A 2: 166,718,536 (GRCm39) C1442S probably damaging Het
Atp13a3 T C 16: 30,169,881 (GRCm39) D399G possibly damaging Het
Cacna2d1 T A 5: 16,554,414 (GRCm39) Y666N probably damaging Het
Cenpo C T 12: 4,265,307 (GRCm39) E238K probably benign Het
Cfap91 A T 16: 38,127,219 (GRCm39) F512L possibly damaging Het
Chrng C A 1: 87,138,735 (GRCm39) R455S probably benign Het
Cimap1a A G 7: 140,429,402 (GRCm39) H151R probably benign Het
Cluh T A 11: 74,558,166 (GRCm39) H1155Q possibly damaging Het
Col16a1 G A 4: 129,946,773 (GRCm39) probably null Het
Cpne5 G A 17: 29,378,051 (GRCm39) P576L unknown Het
Crocc C A 4: 140,774,368 (GRCm39) V144L possibly damaging Het
Cubn A G 2: 13,324,669 (GRCm39) V2781A probably damaging Het
Cyp8b1 A G 9: 121,744,355 (GRCm39) F326L probably benign Het
Dclk1 G A 3: 55,395,333 (GRCm39) probably null Het
Dennd2b A G 7: 109,124,781 (GRCm39) I1083T probably damaging Het
Dnah7c A G 1: 46,789,285 (GRCm39) R3303G probably benign Het
Dnhd1 G T 7: 105,357,739 (GRCm39) R3191S probably benign Het
Fgfbp3 T G 19: 36,896,103 (GRCm39) S172R possibly damaging Het
Gpr158 G A 2: 21,831,386 (GRCm39) V829I probably benign Het
Gtse1 A G 15: 85,759,750 (GRCm39) D647G probably damaging Het
H2-Q7 T A 17: 35,658,461 (GRCm39) V33E probably damaging Het
Hydin A G 8: 111,326,877 (GRCm39) T4739A possibly damaging Het
Kcnip1 G T 11: 33,584,629 (GRCm39) P175T probably damaging Het
Klhl10 T C 11: 100,347,768 (GRCm39) V608A probably benign Het
Klhl2 A G 8: 65,275,664 (GRCm39) Y80H probably damaging Het
Lnx2 A T 5: 146,956,988 (GRCm39) probably null Het
Lst1 G A 17: 35,404,262 (GRCm39) H59Y probably damaging Het
Mphosph8 G C 14: 56,905,980 (GRCm39) V58L possibly damaging Het
Mpnd C A 17: 56,316,457 (GRCm39) S45R possibly damaging Het
Myh8 A G 11: 67,183,453 (GRCm39) probably null Het
Or12j4 A G 7: 140,046,341 (GRCm39) T76A possibly damaging Het
Or4c52 A G 2: 89,845,594 (GRCm39) I107V probably benign Het
Phox2a A G 7: 101,467,718 (GRCm39) Y5C probably damaging Het
Pkdrej A G 15: 85,704,317 (GRCm39) S540P probably damaging Het
Plcb4 A G 2: 135,849,767 (GRCm39) M1133V probably benign Het
Plxnc1 T C 10: 94,667,297 (GRCm39) M1126V probably benign Het
Ppm1l A G 3: 69,225,186 (GRCm39) Y96C probably damaging Het
R3hcc1l T C 19: 42,570,409 (GRCm39) V668A probably damaging Het
Rapgef2 A G 3: 78,993,353 (GRCm39) S712P probably benign Het
Rcc2 T C 4: 140,435,280 (GRCm39) C100R probably benign Het
Recql4 C A 15: 76,589,753 (GRCm39) G764V unknown Het
Rlbp1 A G 7: 79,029,813 (GRCm39) I140T possibly damaging Het
Samsn1 T C 16: 75,667,794 (GRCm39) T261A probably benign Het
Sgtb T C 13: 104,254,924 (GRCm39) S65P possibly damaging Het
Spag9 T C 11: 93,988,690 (GRCm39) V920A probably benign Het
Spata31 T A 13: 65,070,043 (GRCm39) S730R probably benign Het
Spta1 C T 1: 174,027,050 (GRCm39) A841V probably damaging Het
Tnfaip1 T C 11: 78,416,265 (GRCm39) S273G probably benign Het
Vezf1 T C 11: 87,969,364 (GRCm39) V371A probably benign Het
Vmn1r67 G A 7: 10,181,044 (GRCm39) V103I possibly damaging Het
Vmn2r87 G T 10: 130,333,178 (GRCm39) T24K probably benign Het
Wdr43 G A 17: 71,923,434 (GRCm39) G60D probably benign Het
Xkr4 G A 1: 3,287,185 (GRCm39) T335I probably damaging Het
Zdhhc23 A T 16: 43,791,873 (GRCm39) I300N probably damaging Het
Zfp729b T C 13: 67,741,056 (GRCm39) K403R probably damaging Het
Other mutations in Prpsap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0042:Prpsap1 UTSW 11 116,370,482 (GRCm39) missense probably benign 0.42
R0684:Prpsap1 UTSW 11 116,362,317 (GRCm39) missense probably damaging 1.00
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
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'- CTTAAAGAGCGCTAAACAGCTC -3'
(R):5'- GAGGCGTTTATCTTCTGGCC -3'

Sequencing Primer
(F):5'- GCGCTAAACAGCTCAAAGAG -3'
(R):5'- ATAGAAATGGTTCTTTGTGCCCC -3'
Posted On 2019-05-15