Incidental Mutation 'R8300:Paics'
ID 639195
Institutional Source Beutler Lab
Gene Symbol Paics
Ensembl Gene ENSMUSG00000029247
Gene Name phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase
Synonyms PAIS, ADE2H1, AIRC, 2610511I09Rik
MMRRC Submission 067788-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8300 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 77099154-77115356 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77109253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 196 (V196A)
Ref Sequence ENSEMBL: ENSMUSP00000031160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031160] [ENSMUST00000117536] [ENSMUST00000120912] [ENSMUST00000141687] [ENSMUST00000153648]
AlphaFold Q9DCL9
Predicted Effect probably damaging
Transcript: ENSMUST00000031160
AA Change: V196A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031160
Gene: ENSMUSG00000029247
AA Change: V196A

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: V196A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112879
Gene: ENSMUSG00000029247
AA Change: V196A

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: V196A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113483
Gene: ENSMUSG00000029247
AA Change: V196A

DomainStartEndE-ValueType
Pfam:SAICAR_synt 11 248 4e-56 PFAM
AIRC 266 413 8.36e-31 SMART
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 A G 9: 21,437,561 (GRCm39) M1V probably null Het
Abca12 T A 1: 71,353,123 (GRCm39) N773I possibly damaging Het
Adh7 A G 3: 137,929,825 (GRCm39) E167G probably damaging Het
Ank2 T A 3: 126,804,555 (GRCm39) D622V Het
Asf1b T A 8: 84,695,805 (GRCm39) F149I possibly damaging Het
Bach1 T C 16: 87,515,996 (GRCm39) V179A probably benign Het
C1ra C T 6: 124,498,597 (GRCm39) A430V probably benign Het
Cacna1c T A 6: 118,575,717 (GRCm39) Q1944L Het
Camkk1 T C 11: 72,918,266 (GRCm39) V158A probably benign Het
Ccdc152 T C 15: 3,327,634 (GRCm39) T48A probably benign Het
Cd180 A T 13: 102,841,301 (GRCm39) M116L probably benign Het
Clca3a2 C T 3: 144,804,692 (GRCm39) G12R probably benign Het
Coq8b T C 7: 26,941,671 (GRCm39) V252A possibly damaging Het
Cp A G 3: 20,011,385 (GRCm39) probably benign Het
Ctsj A T 13: 61,150,285 (GRCm39) V238E probably damaging Het
Ctsj C T 13: 61,150,286 (GRCm39) V238I probably damaging Het
Cxcr2 A T 1: 74,198,333 (GRCm39) M276L probably benign Het
Drd5 T C 5: 38,477,672 (GRCm39) S222P probably damaging Het
Egflam T C 15: 7,283,932 (GRCm39) D269G possibly damaging Het
Fbn2 C T 18: 58,342,687 (GRCm39) R64Q probably benign Het
Fyb2 A T 4: 104,857,689 (GRCm39) K622M probably damaging Het
Gm10220 T C 5: 26,322,818 (GRCm39) E198G probably damaging Het
Gm1527 A T 3: 28,980,744 (GRCm39) N615Y possibly damaging Het
Gpatch3 A G 4: 133,307,140 (GRCm39) H308R probably damaging Het
Gsdmc4 A G 15: 63,766,790 (GRCm39) I261T probably damaging Het
Gsg1 T G 6: 135,214,580 (GRCm39) T310P probably benign Het
Hecw2 T C 1: 53,926,775 (GRCm39) S1075G probably null Het
Hyal6 A G 6: 24,734,087 (GRCm39) T7A probably benign Het
Ighv1-59 T G 12: 115,298,987 (GRCm39) Q22H probably damaging Het
Lyst T A 13: 13,838,643 (GRCm39) M1853K possibly damaging Het
Maco1 A G 4: 134,555,762 (GRCm39) I237T probably benign Het
Mccc1 A T 3: 36,017,753 (GRCm39) M649K probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nek4 A G 14: 30,692,352 (GRCm39) D399G Het
Obscn T C 11: 58,933,896 (GRCm39) K5323E probably benign Het
Or6p1 T A 1: 174,258,100 (GRCm39) Y35* probably null Het
Pced1a C A 2: 130,266,157 (GRCm39) probably benign Het
Pierce1 A T 2: 28,352,435 (GRCm39) Y109* probably null Het
Pik3cb A G 9: 98,928,711 (GRCm39) V848A probably damaging Het
Ppm1h T A 10: 122,618,118 (GRCm39) N92K probably damaging Het
Ppp1r16b T A 2: 158,588,571 (GRCm39) I152N probably damaging Het
Pramel7 A G 2: 87,319,967 (GRCm39) M442T probably benign Het
Prex2 A T 1: 11,301,942 (GRCm39) N1415I possibly damaging Het
Pum3 T C 19: 27,399,773 (GRCm39) K220R probably benign Het
Qrich2 G T 11: 116,347,175 (GRCm39) D1216E probably benign Het
Rbbp8 T A 18: 11,838,833 (GRCm39) silent Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rimbp2 C T 5: 128,874,835 (GRCm39) R252Q probably damaging Het
Rnpep T C 1: 135,211,397 (GRCm39) H117R probably benign Het
Serpinb10 A G 1: 107,474,456 (GRCm39) D206G probably benign Het
Sh3tc1 C T 5: 35,854,792 (GRCm39) V1302M probably benign Het
Slmap T C 14: 26,139,374 (GRCm39) E780G possibly damaging Het
Snrpg T A 6: 86,353,558 (GRCm39) V46E probably damaging Het
Spef1l A T 7: 139,557,091 (GRCm39) I98N probably damaging Het
Sptbn5 T A 2: 119,878,058 (GRCm39) Q953L noncoding transcript Het
Stard9 C T 2: 120,535,250 (GRCm39) L3836F possibly damaging Het
Tcerg1 T A 18: 42,683,137 (GRCm39) M619K probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tnfrsf9 C T 4: 151,017,556 (GRCm39) T137M probably damaging Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trak1 G T 9: 121,289,565 (GRCm39) E626* probably null Het
Trio G T 15: 27,855,108 (GRCm39) H750Q possibly damaging Het
U2af2 T C 7: 5,070,414 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,182,347 (GRCm39) I451V probably benign Het
Zfp930 A T 8: 69,680,998 (GRCm39) N230I probably benign 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
R2179:Paics UTSW 5 77,109,291 (GRCm39) missense probably damaging 1.00
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
R8506:Paics UTSW 5 77,112,437 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- TTCTGGAGAAATCCTGGCTG -3'
(R):5'- GCCATTGGGTTGTATCTCCAG -3'

Sequencing Primer
(F):5'- TGCCCCAGGACTGTACG -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
Posted On 2020-07-28