Incidental Mutation 'R5917:Prpsap2'
ID 461418
Institutional Source Beutler Lab
Gene Symbol Prpsap2
Ensembl Gene ENSMUSG00000020528
Gene Name phosphoribosyl pyrophosphate synthetase-associated protein 2
Synonyms A230054F23Rik
MMRRC Submission 044114-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5917 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 61620476-61652914 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61627870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 202 (R202H)
Ref Sequence ENSEMBL: ENSMUSP00000126274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004955] [ENSMUST00000168115]
AlphaFold Q8R574
Predicted Effect probably damaging
Transcript: ENSMUST00000004955
AA Change: R202H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004955
Gene: ENSMUSG00000020528
AA Change: R202H

DomainStartEndE-ValueType
Pfam:Pribosyltran_N 21 138 2.4e-40 PFAM
Pfam:Pribosyl_synth 179 363 9.9e-103 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151966
Predicted Effect probably damaging
Transcript: ENSMUST00000168115
AA Change: R202H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126274
Gene: ENSMUSG00000020528
AA Change: R202H

DomainStartEndE-ValueType
Pfam:Pribosyltran_N 20 138 3e-41 PFAM
Pfam:Pribosyltran 161 335 3.7e-8 PFAM
Pfam:Pribosyl_synth 179 363 1.6e-103 PFAM
Meta Mutation Damage Score 0.2269 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,832,516 (GRCm39) R1153* probably null Het
Amdhd1 T C 10: 93,360,332 (GRCm39) H409R possibly damaging Het
Anks1b C T 10: 90,412,803 (GRCm39) probably benign Het
Ascc2 T C 11: 4,631,506 (GRCm39) L649P probably benign Het
Chst15 A G 7: 131,872,246 (GRCm39) F12L probably benign Het
Clec4a4 A T 6: 122,981,017 (GRCm39) K83N probably benign Het
Comp T A 8: 70,829,011 (GRCm39) probably null Het
Cryz T A 3: 154,327,403 (GRCm39) S144T probably benign Het
Ctss A G 3: 95,450,424 (GRCm39) D125G probably benign Het
Dact1 G T 12: 71,365,456 (GRCm39) V746L possibly damaging Het
Dhx29 A G 13: 113,099,377 (GRCm39) H1134R probably damaging Het
Dlgap4 A G 2: 156,546,460 (GRCm39) D376G probably damaging Het
Dnah3 T A 7: 119,615,749 (GRCm39) H1660L probably damaging Het
Ep300 T A 15: 81,512,808 (GRCm39) probably benign Het
Fbxo30 A T 10: 11,165,262 (GRCm39) probably null Het
Fcrl2 T A 3: 87,164,094 (GRCm39) H345L probably damaging Het
Galnt11 C A 5: 25,452,670 (GRCm39) probably null Het
Il31ra A G 13: 112,682,846 (GRCm39) C87R probably benign Het
Itga4 A T 2: 79,117,442 (GRCm39) Q416L probably damaging Het
Kcnt2 A T 1: 140,461,666 (GRCm39) T806S probably damaging Het
Lama2 A G 10: 27,066,693 (GRCm39) S1063P probably damaging Het
Lama4 T A 10: 38,924,028 (GRCm39) S479T probably benign Het
Lgi4 C T 7: 30,759,603 (GRCm39) T53M possibly damaging Het
Limk1 A G 5: 134,686,789 (GRCm39) F533L probably damaging Het
Loxl1 A G 9: 58,220,006 (GRCm39) L55P probably damaging Het
Map1a A G 2: 121,135,697 (GRCm39) E1933G probably damaging Het
Matn2 T A 15: 34,409,912 (GRCm39) C447* probably null Het
Mmrn1 T C 6: 60,950,134 (GRCm39) probably null Het
Or2a7 C T 6: 43,151,646 (GRCm39) S242F probably damaging Het
Or4a66 A T 2: 88,531,049 (GRCm39) I208N possibly damaging Het
Or4d1 A T 11: 87,805,215 (GRCm39) N172K probably damaging Het
Otor A G 2: 142,920,431 (GRCm39) I4M probably benign Het
P2rx3 A T 2: 84,865,591 (GRCm39) V18E probably damaging Het
Pcdh7 T C 5: 57,879,097 (GRCm39) V884A probably damaging Het
Pcdhb4 T A 18: 37,442,619 (GRCm39) V643D probably damaging Het
Pelo A G 13: 115,225,930 (GRCm39) S176P possibly damaging Het
Ppp2r3d A T 9: 101,089,183 (GRCm39) V380E probably benign Het
Proc T A 18: 32,260,513 (GRCm39) D204V probably benign Het
Resf1 T C 6: 149,236,179 (GRCm39) F1500L probably damaging Het
Rtl1 T G 12: 109,558,087 (GRCm39) T1251P possibly damaging Het
Sema6a T G 18: 47,414,405 (GRCm39) I482L probably benign Het
Smpdl3a T A 10: 57,681,654 (GRCm39) probably null Het
Strc T A 2: 121,209,790 (GRCm39) M178L probably benign Het
Taok1 A T 11: 77,451,144 (GRCm39) M312K probably damaging Het
Tle2 T C 10: 81,416,750 (GRCm39) probably null Het
Tle3 A G 9: 61,316,190 (GRCm39) D296G probably benign Het
Trank1 A G 9: 111,191,485 (GRCm39) D498G probably benign Het
Vars1 C A 17: 35,231,491 (GRCm39) L672M probably damaging Het
Vps13d G A 4: 144,826,580 (GRCm39) T2866I probably damaging Het
Zfp423 C A 8: 88,508,860 (GRCm39) E370* probably null Het
Zfp521 T A 18: 13,978,612 (GRCm39) K600N probably damaging Het
Zfp788 A G 7: 41,298,572 (GRCm39) K351E probably benign Het
Zfp963 A T 8: 70,195,510 (GRCm39) probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging Het
Other mutations in Prpsap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01668:Prpsap2 APN 11 61,646,277 (GRCm39) missense probably benign 0.00
IGL03117:Prpsap2 APN 11 61,631,815 (GRCm39) missense probably benign 0.12
R0372:Prpsap2 UTSW 11 61,631,826 (GRCm39) missense possibly damaging 0.70
R0373:Prpsap2 UTSW 11 61,631,826 (GRCm39) missense possibly damaging 0.70
R0377:Prpsap2 UTSW 11 61,631,826 (GRCm39) missense possibly damaging 0.70
R0486:Prpsap2 UTSW 11 61,631,826 (GRCm39) missense possibly damaging 0.70
R0488:Prpsap2 UTSW 11 61,631,826 (GRCm39) missense possibly damaging 0.70
R0733:Prpsap2 UTSW 11 61,631,826 (GRCm39) missense possibly damaging 0.70
R2656:Prpsap2 UTSW 11 61,643,717 (GRCm39) missense probably benign 0.03
R2656:Prpsap2 UTSW 11 61,621,051 (GRCm39) missense probably benign 0.01
R5027:Prpsap2 UTSW 11 61,631,830 (GRCm39) splice site probably null
R5342:Prpsap2 UTSW 11 61,622,396 (GRCm39) missense probably damaging 1.00
R5861:Prpsap2 UTSW 11 61,627,870 (GRCm39) missense probably damaging 1.00
R5918:Prpsap2 UTSW 11 61,627,870 (GRCm39) missense probably damaging 1.00
R6489:Prpsap2 UTSW 11 61,639,890 (GRCm39) missense probably damaging 0.96
R6741:Prpsap2 UTSW 11 61,631,771 (GRCm39) critical splice donor site probably null
R6856:Prpsap2 UTSW 11 61,621,097 (GRCm39) missense probably benign 0.11
R7543:Prpsap2 UTSW 11 61,635,797 (GRCm39) missense possibly damaging 0.89
R7908:Prpsap2 UTSW 11 61,647,098 (GRCm39) missense possibly damaging 0.64
R8896:Prpsap2 UTSW 11 61,643,736 (GRCm39) missense possibly damaging 0.95
R8941:Prpsap2 UTSW 11 61,627,870 (GRCm39) missense probably damaging 0.99
R9381:Prpsap2 UTSW 11 61,635,782 (GRCm39) missense probably benign 0.02
X0019:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0024:Prpsap2 UTSW 11 61,647,045 (GRCm39) missense probably benign 0.05
X0024:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0034:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0035:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0036:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0037:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0038:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0039:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0040:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0052:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0053:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0054:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0058:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0060:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0061:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0062:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
X0063:Prpsap2 UTSW 11 61,627,826 (GRCm39) missense probably benign 0.01
Z1186:Prpsap2 UTSW 11 61,647,078 (GRCm39) missense possibly damaging 0.64
Z1187:Prpsap2 UTSW 11 61,647,078 (GRCm39) missense possibly damaging 0.64
Z1188:Prpsap2 UTSW 11 61,647,078 (GRCm39) missense possibly damaging 0.64
Z1189:Prpsap2 UTSW 11 61,647,078 (GRCm39) missense possibly damaging 0.64
Z1190:Prpsap2 UTSW 11 61,647,078 (GRCm39) missense possibly damaging 0.64
Z1191:Prpsap2 UTSW 11 61,647,078 (GRCm39) missense possibly damaging 0.64
Z1192:Prpsap2 UTSW 11 61,647,078 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- TCAAGCAGCTCAGAGAACAG -3'
(R):5'- CTGAATCTGAAGTGGGCATTCTC -3'

Sequencing Primer
(F):5'- CAGTGGCAAAGAGGTACTTGTG -3'
(R):5'- ACTCAATCTGTAGACCAGGCTGG -3'
Posted On 2017-02-28