Incidental Mutation 'R8506:Paics'
ID 655562
Institutional Source Beutler Lab
Gene Symbol Paics
Ensembl Gene ENSMUSG00000029247
Gene Name phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase
Synonyms PAIS, ADE2H1, AIRC, 2610511I09Rik
MMRRC Submission 067842-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8506 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 77099154-77115356 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77112437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 307 (D307V)
Ref Sequence ENSEMBL: ENSMUSP00000031160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031160] [ENSMUST00000117536] [ENSMUST00000120912] [ENSMUST00000153648]
AlphaFold Q9DCL9
Predicted Effect possibly damaging
Transcript: ENSMUST00000031160
AA Change: D307V

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031160
Gene: ENSMUSG00000029247
AA Change: D307V

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 253 4.8e-81 PFAM
AIRC 266 413 8.36e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117536
AA Change: D307V

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112879
Gene: ENSMUSG00000029247
AA Change: D307V

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 253 4.8e-81 PFAM
AIRC 266 413 8.36e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120912
AA Change: D307V

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113483
Gene: ENSMUSG00000029247
AA Change: D307V

DomainStartEndE-ValueType
Pfam:SAICAR_synt 11 248 4e-56 PFAM
AIRC 266 413 8.36e-31 SMART
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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A T 9: 101,820,171 (GRCm39) E197V possibly damaging Het
Alkbh8 C T 9: 3,335,616 (GRCm39) probably benign Het
Ank1 G A 8: 23,586,851 (GRCm39) A498T probably damaging Het
Antxr1 T A 6: 87,165,155 (GRCm39) E427D possibly damaging Het
App A C 16: 84,879,704 (GRCm39) V143G unknown Het
Bod1l C A 5: 41,976,398 (GRCm39) E1639* probably null Het
C2cd2 T C 16: 97,676,621 (GRCm39) D122G Het
Ccdc88b G T 19: 6,824,690 (GRCm39) P1357T probably damaging Het
Ccnyl1 A G 1: 64,753,821 (GRCm39) T211A possibly damaging Het
Cdc25a T C 9: 109,720,820 (GRCm39) Y434H probably damaging Het
Ceacam16 C A 7: 19,586,195 (GRCm39) A106S unknown Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Chpf2 T C 5: 24,793,295 (GRCm39) L87P probably damaging Het
Col5a2 A T 1: 45,481,944 (GRCm39) I60N unknown Het
Cux1 T A 5: 136,337,358 (GRCm39) E718V probably damaging Het
Dchs2 A T 3: 83,208,481 (GRCm39) I1845L probably benign Het
Disp3 C T 4: 148,326,027 (GRCm39) V1244I possibly damaging Het
Dnah8 T C 17: 30,940,108 (GRCm39) S1685P probably benign Het
Etnppl G A 3: 130,423,122 (GRCm39) V274I possibly damaging Het
Evc2 T C 5: 37,540,486 (GRCm39) S561P probably damaging Het
Fga A G 3: 82,940,623 (GRCm39) E759G probably damaging Het
Gdpd5 T C 7: 99,103,157 (GRCm39) F372S probably benign Het
Gpr155 T C 2: 73,173,806 (GRCm39) T868A probably damaging Het
Herc1 A G 9: 66,380,863 (GRCm39) D3580G possibly damaging Het
Hmbs A G 9: 44,252,921 (GRCm39) probably null Het
Ibsp A T 5: 104,457,947 (GRCm39) E161D probably damaging Het
Ighv8-4 A G 12: 114,987,728 (GRCm39) V90A possibly damaging Het
Itpr2 A G 6: 146,319,914 (GRCm39) probably null Het
Kcnc2 T A 10: 112,291,537 (GRCm39) F242I probably damaging Het
Kcnj5 A G 9: 32,233,628 (GRCm39) I229T probably damaging Het
Lamb1 A T 12: 31,379,360 (GRCm39) L1791F probably damaging Het
Med6 A T 12: 81,641,734 (GRCm39) M1K probably null Het
Mei4 A G 9: 81,861,291 (GRCm39) D294G probably benign Het
Nat10 T C 2: 103,562,582 (GRCm39) I585V probably benign Het
Nid1 T C 13: 13,650,759 (GRCm39) V432A probably damaging Het
Nlrp4c G T 7: 6,103,775 (GRCm39) G903V possibly damaging Het
Nrf1 G A 6: 30,126,256 (GRCm39) A416T probably benign Het
Nsl1 G C 1: 190,808,832 (GRCm39) C173S unknown Het
Obsl1 G A 1: 75,482,300 (GRCm39) A190V probably benign Het
Or13a22 G A 7: 140,073,336 (GRCm39) V262I probably benign Het
Or51f1d T A 7: 102,700,709 (GRCm39) M68K probably damaging Het
Or5b3 A G 19: 13,388,604 (GRCm39) T224A possibly damaging Het
Or5w8 A T 2: 87,688,181 (GRCm39) I221F probably damaging Het
Or8k3 A G 2: 86,058,922 (GRCm39) L131P possibly damaging Het
Or8k38 T C 2: 86,488,745 (GRCm39) D19G probably benign Het
Osbpl1a G A 18: 12,901,643 (GRCm39) T621I probably benign Het
Pabpc4l G A 3: 46,400,832 (GRCm39) R271* probably null Het
Pcdhga9 A G 18: 37,871,737 (GRCm39) D522G probably damaging Het
Pclo T A 5: 14,590,759 (GRCm39) C1020S unknown Het
Pfkfb4 T G 9: 108,834,667 (GRCm39) D113E possibly damaging Het
Plod3 A G 5: 137,017,830 (GRCm39) Y202C probably damaging Het
Pmp22 T A 11: 63,049,090 (GRCm39) M111K probably damaging Het
Pole2 A C 12: 69,255,734 (GRCm39) S344A probably benign Het
Pom121l2 A G 13: 22,167,789 (GRCm39) T687A probably benign Het
Psmd6 A G 14: 14,114,181 (GRCm38) S313P probably damaging Het
Rd3 T G 1: 191,715,228 (GRCm39) M1R probably null Het
Rtn4ip1 G A 10: 43,804,352 (GRCm39) V235I probably benign Het
Senp5 T C 16: 31,787,719 (GRCm39) I635V probably damaging Het
Stox2 T C 8: 47,645,108 (GRCm39) E784G possibly damaging Het
Syce2 A T 8: 85,613,795 (GRCm39) D168V probably benign Het
Taar6 A G 10: 23,861,529 (GRCm39) S6P probably benign Het
Tbc1d16 A C 11: 119,039,784 (GRCm39) H675Q probably damaging Het
Tmem151b A T 17: 45,856,327 (GRCm39) I371N probably damaging Het
Trim31 A T 17: 37,218,150 (GRCm39) probably null Het
Usp48 A G 4: 137,338,029 (GRCm39) Y268C probably damaging Het
Vmn2r11 A G 5: 109,207,270 (GRCm39) S17P probably benign Het
Vmn2r110 T A 17: 20,804,627 (GRCm39) N98Y probably benign Het
Vps13b T A 15: 35,446,891 (GRCm39) D515E probably benign Het
Yeats2 T G 16: 19,971,684 (GRCm39) I42M probably 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
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
R8300:Paics UTSW 5 77,109,253 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCACTAAAGCGTCCAGGC -3'
(R):5'- TACAGTGTCCCTTCTGAAGATAAGTG -3'

Sequencing Primer
(F):5'- GATAAACTGTCACCCATCTCTCATAG -3'
(R):5'- CGGGGAAAGCTCATTTAAG -3'
Posted On 2020-10-20