Incidental Mutation 'R2179:Paics'
ID 237042
Institutional Source Beutler Lab
Gene Symbol Paics
Ensembl Gene ENSMUSG00000029247
Gene Name phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase
Synonyms PAIS, ADE2H1, AIRC, 2610511I09Rik
MMRRC Submission 040181-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2179 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 77099154-77115356 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77109291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 209 (I209F)
Ref Sequence ENSEMBL: ENSMUSP00000113483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031160] [ENSMUST00000117536] [ENSMUST00000120912] [ENSMUST00000141687] [ENSMUST00000153648]
AlphaFold Q9DCL9
Predicted Effect probably damaging
Transcript: ENSMUST00000031160
AA Change: I209F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031160
Gene: ENSMUSG00000029247
AA Change: I209F

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 253 4.8e-81 PFAM
AIRC 266 413 8.36e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117536
AA Change: I209F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112879
Gene: ENSMUSG00000029247
AA Change: I209F

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 253 4.8e-81 PFAM
AIRC 266 413 8.36e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120912
AA Change: I209F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113483
Gene: ENSMUSG00000029247
AA Change: I209F

DomainStartEndE-ValueType
Pfam:SAICAR_synt 11 248 4e-56 PFAM
AIRC 266 413 8.36e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140051
Predicted Effect probably benign
Transcript: ENSMUST00000141687
SMART Domains Protein: ENSMUSP00000117027
Gene: ENSMUSG00000029247

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 83 9.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153648
SMART Domains Protein: ENSMUSP00000123558
Gene: ENSMUSG00000029247

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 94 9.6e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154688
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,271,018 (GRCm39) D849G possibly damaging Het
Amz2 A G 11: 109,320,658 (GRCm39) H155R probably damaging Het
Cfhr4 G T 1: 139,659,279 (GRCm39) P679Q probably damaging Het
Chuk C A 19: 44,092,160 (GRCm39) C46F possibly damaging Het
Cp A T 3: 20,042,151 (GRCm39) D973V probably damaging Het
Cpm T A 10: 117,519,266 (GRCm39) D391E probably benign Het
Creb3 T C 4: 43,566,306 (GRCm39) S271P probably damaging Het
Cubn T A 2: 13,323,053 (GRCm39) H2838L possibly damaging Het
Dennd2d A G 3: 106,399,776 (GRCm39) H233R probably benign Het
Dnaaf2 C A 12: 69,245,071 (GRCm39) probably benign Het
Enpp3 T A 10: 24,681,793 (GRCm39) Q304H probably benign Het
Fermt3 C A 19: 6,991,782 (GRCm39) R143L probably benign Het
Fndc8 A C 11: 82,789,580 (GRCm39) K246T probably damaging Het
Gaa A G 11: 119,165,884 (GRCm39) probably null Het
Gucy2e A T 11: 69,119,404 (GRCm39) probably null Het
Igf1r A G 7: 67,653,698 (GRCm39) T79A probably damaging Het
Ikbkb C T 8: 23,171,769 (GRCm39) probably null Het
Il16 A T 7: 83,337,287 (GRCm39) probably null Het
Irs1 T A 1: 82,267,940 (GRCm39) H92L possibly damaging Het
Itpr2 A G 6: 146,277,464 (GRCm39) M315T probably benign Het
Lrba T G 3: 86,261,588 (GRCm39) L1514R probably damaging Het
Mcpt2 A G 14: 56,279,573 (GRCm39) probably benign Het
Metap1d A G 2: 71,283,715 (GRCm39) I5V probably benign Het
Mga T A 2: 119,790,923 (GRCm39) S2479T probably damaging Het
Mllt10 T C 2: 18,215,604 (GRCm39) V1063A probably damaging Het
Mroh2b G A 15: 4,950,928 (GRCm39) probably null Het
Mtfr1 C T 3: 19,254,308 (GRCm39) R15* probably null Het
Npm2 A G 14: 70,885,749 (GRCm39) V152A probably benign Het
Nrxn3 T A 12: 89,221,448 (GRCm39) V409D probably damaging Het
Ogdhl A G 14: 32,057,302 (GRCm39) N303D probably damaging Het
Or10g9 T C 9: 39,912,220 (GRCm39) Y101C probably benign Het
Or10q1b T C 19: 13,682,758 (GRCm39) V189A probably damaging Het
Or4d11 T C 19: 12,013,452 (GRCm39) Y218C probably damaging Het
Or6s1 A G 14: 51,308,238 (GRCm39) V204A probably benign Het
Pah T C 10: 87,403,197 (GRCm39) F191L probably damaging Het
Pcare T C 17: 72,059,521 (GRCm39) D52G probably damaging Het
Pld6 A G 11: 59,678,184 (GRCm39) L93P probably damaging Het
Plod3 T C 5: 137,019,862 (GRCm39) F431L possibly damaging Het
Ppm1b T A 17: 85,301,862 (GRCm39) D247E probably damaging Het
Prx A G 7: 27,217,410 (GRCm39) D637G probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,116 (GRCm39) probably benign Het
Ryr2 A T 13: 11,720,679 (GRCm39) Y2656* probably null Het
Setd2 T A 9: 110,423,756 (GRCm39) Y492* probably null Het
Shmt1 A G 11: 60,697,825 (GRCm39) W9R possibly damaging Het
Slc25a17 A G 15: 81,222,151 (GRCm39) V107A probably benign Het
Sptlc1 A T 13: 53,505,675 (GRCm39) Y248N probably damaging Het
Stam2 T C 2: 52,584,936 (GRCm39) T453A probably benign Het
Tango2 G T 16: 18,128,762 (GRCm39) N77K probably damaging Het
Tas2r121 A T 6: 132,677,831 (GRCm39) I47N probably damaging Het
Terb1 A T 8: 105,179,347 (GRCm39) C614S probably damaging Het
Terb1 T C 8: 105,199,369 (GRCm39) N525S probably benign Het
Ttc6 A G 12: 57,719,904 (GRCm39) D825G possibly damaging Het
U90926 A T 5: 92,357,838 (GRCm39) H104Q probably benign Het
Zfand4 G A 6: 116,291,742 (GRCm39) A559T possibly damaging Het
Zfp462 T C 4: 55,009,524 (GRCm39) S497P possibly damaging Het
Other mutations in Paics
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Paics APN 5 77,104,578 (GRCm39) missense probably damaging 1.00
IGL01642:Paics APN 5 77,109,357 (GRCm39) splice site probably benign
IGL01689:Paics APN 5 77,109,138 (GRCm39) critical splice donor site probably null
IGL02559:Paics APN 5 77,112,451 (GRCm39) missense possibly damaging 0.55
IGL02814:Paics APN 5 77,110,320 (GRCm39) missense probably damaging 0.99
IGL03093:Paics APN 5 77,109,355 (GRCm39) critical splice donor site probably null
IGL02980:Paics UTSW 5 77,114,102 (GRCm39) missense probably benign 0.00
LCD18:Paics UTSW 5 76,956,744 (GRCm38) frame shift probably null
R4573:Paics UTSW 5 77,104,450 (GRCm39) missense probably benign 0.09
R4926:Paics UTSW 5 77,109,051 (GRCm39) missense probably damaging 1.00
R5134:Paics UTSW 5 77,104,669 (GRCm39) intron probably benign
R5308:Paics UTSW 5 77,104,479 (GRCm39) missense probably damaging 1.00
R7996:Paics UTSW 5 77,107,276 (GRCm39) missense probably benign 0.11
R8300:Paics UTSW 5 77,109,253 (GRCm39) missense probably damaging 1.00
R8506:Paics UTSW 5 77,112,437 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- ACTGTACGCTGGTTGATATGAAG -3'
(R):5'- CCATTGGGTTGTATCTCCAGC -3'

Sequencing Primer
(F):5'- CATTTCCTTGGCAATGTGC -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
Posted On 2014-10-02