Incidental Mutation 'R2284:Adsl'
ID 243262
Institutional Source Beutler Lab
Gene Symbol Adsl
Ensembl Gene ENSMUSG00000022407
Gene Name adenylosuccinate lyase
Synonyms
MMRRC Submission 040283-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2284 (G1)
Quality Score 157
Status Validated
Chromosome 15
Chromosomal Location 80832691-80855147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80848096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 278 (P278L)
Ref Sequence ENSEMBL: ENSMUSP00000127593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023043] [ENSMUST00000164806] [ENSMUST00000166711] [ENSMUST00000168756] [ENSMUST00000169238] [ENSMUST00000207170] [ENSMUST00000200201]
AlphaFold P54822
Predicted Effect possibly damaging
Transcript: ENSMUST00000023043
AA Change: P293L

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023043
Gene: ENSMUSG00000022407
AA Change: P293L

DomainStartEndE-ValueType
Pfam:Lyase_1 49 313 4.4e-29 PFAM
ADSL_C 377 461 5.65e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163575
Predicted Effect probably damaging
Transcript: ENSMUST00000164806
AA Change: P293L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131998
Gene: ENSMUSG00000022407
AA Change: P293L

DomainStartEndE-ValueType
Pfam:Lyase_1 47 313 8.4e-29 PFAM
Blast:ADSL_C 377 416 2e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000166711
SMART Domains Protein: ENSMUSP00000129601
Gene: ENSMUSG00000022407

DomainStartEndE-ValueType
PDB:2VD6|D 1 134 3e-87 PDB
SCOP:d1c3ca_ 20 134 9e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168756
AA Change: P278L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127593
Gene: ENSMUSG00000022407
AA Change: P278L

DomainStartEndE-ValueType
Pfam:Lyase_1 115 298 3.9e-25 PFAM
ADSL_C 362 446 5.65e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169238
SMART Domains Protein: ENSMUSP00000132423
Gene: ENSMUSG00000022407

DomainStartEndE-ValueType
PDB:2VD6|D 1 134 3e-87 PDB
SCOP:d1c3ca_ 20 134 9e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207170
AA Change: P113L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000199284
Predicted Effect probably benign
Transcript: ENSMUST00000200201
SMART Domains Protein: ENSMUSP00000143188
Gene: ENSMUSG00000022407

DomainStartEndE-ValueType
PDB:2VD6|D 1 119 6e-77 PDB
SCOP:d1c3ca_ 20 119 4e-21 SMART
Meta Mutation Damage Score 0.9668 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: This gene encodes a protein that is involved in adenosine monophosphate (AMP) biosynthesis and maintaining AMP levels in the muscle. The encoded enzyme catalyzes the release of fumarate during AMP biosynthesis by cleaving the substrates succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide (AICA) ribotide, and adenylosuccinate to give adenylate. In humans, this gene is associated with adenylosuccinate deficiency, a rare autosomal disorder resulting in a spectrum of neurological symptoms. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipoq C T 16: 22,976,237 (GRCm39) Q213* probably null Het
Bcas2 T C 3: 103,085,678 (GRCm39) S187P probably damaging Het
Ccdc88a T C 11: 29,444,099 (GRCm39) probably null Het
Cryzl1 C T 16: 91,491,193 (GRCm39) probably benign Het
Csl T A 10: 99,594,321 (GRCm39) D248V possibly damaging Het
Dip2a A C 10: 76,149,027 (GRCm39) V247G probably benign Het
Fat2 T C 11: 55,173,186 (GRCm39) D2509G probably damaging Het
Gldn G A 9: 54,193,849 (GRCm39) W14* probably null Het
Gm5698 C T 1: 31,016,964 (GRCm39) R29Q possibly damaging Het
Gm5830 A T 1: 78,945,415 (GRCm39) noncoding transcript Het
Gtf2ird2 A G 5: 134,246,025 (GRCm39) D761G probably benign Het
Hdac10 T C 15: 89,011,607 (GRCm39) Q159R probably benign Het
Hhatl T C 9: 121,618,648 (GRCm39) Y118C probably damaging Het
Iho1 C T 9: 108,298,672 (GRCm39) E49K probably damaging Het
Klrd1 A G 6: 129,575,344 (GRCm39) H127R probably benign Het
Krtap31-1 C T 11: 99,799,081 (GRCm39) Q95* probably null Het
Map2 C T 1: 66,453,227 (GRCm39) P548S probably damaging Het
Mki67 A G 7: 135,301,674 (GRCm39) V1120A probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr12 T A 15: 12,245,097 (GRCm39) M204K probably damaging Het
Muc6 T C 7: 141,217,837 (GRCm39) T2279A possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nlrp1b A G 11: 71,047,110 (GRCm39) S1084P probably benign Het
Nr2f1 C A 13: 78,343,581 (GRCm39) V81F probably damaging Het
Nrxn3 T A 12: 89,477,135 (GRCm39) N803K probably damaging Het
Or5l14 A G 2: 87,793,137 (GRCm39) L33P probably damaging Het
Ptpre A G 7: 135,271,510 (GRCm39) H375R probably benign Het
Tsc1 G A 2: 28,555,109 (GRCm39) V200I possibly damaging Het
Vmn1r42 A G 6: 89,821,681 (GRCm39) I296T probably benign Het
Vmn1r67 A T 7: 10,181,600 (GRCm39) H288L probably damaging Het
Vmn2r45 A T 7: 8,488,765 (GRCm39) N88K probably benign Het
Wt1 A G 2: 105,002,666 (GRCm39) T511A probably benign Het
Other mutations in Adsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Adsl APN 15 80,832,901 (GRCm39) missense probably null 0.24
IGL02249:Adsl APN 15 80,844,676 (GRCm39) missense probably benign 0.26
IGL03009:Adsl APN 15 80,836,444 (GRCm39) nonsense probably null
R0046:Adsl UTSW 15 80,846,989 (GRCm39) critical splice donor site probably null
R0046:Adsl UTSW 15 80,846,989 (GRCm39) critical splice donor site probably null
R0194:Adsl UTSW 15 80,845,561 (GRCm39) missense possibly damaging 0.91
R0575:Adsl UTSW 15 80,847,886 (GRCm39) missense probably damaging 1.00
R1111:Adsl UTSW 15 80,851,861 (GRCm39) missense probably damaging 1.00
R1606:Adsl UTSW 15 80,836,425 (GRCm39) nonsense probably null
R1822:Adsl UTSW 15 80,846,943 (GRCm39) nonsense probably null
R2152:Adsl UTSW 15 80,851,863 (GRCm39) missense probably damaging 1.00
R4008:Adsl UTSW 15 80,850,357 (GRCm39) missense probably benign 0.05
R4010:Adsl UTSW 15 80,850,357 (GRCm39) missense probably benign 0.05
R4011:Adsl UTSW 15 80,850,357 (GRCm39) missense probably benign 0.05
R4202:Adsl UTSW 15 80,836,417 (GRCm39) missense probably damaging 0.98
R4587:Adsl UTSW 15 80,851,968 (GRCm39) critical splice donor site probably null
R5053:Adsl UTSW 15 80,844,651 (GRCm39) missense probably damaging 1.00
R5086:Adsl UTSW 15 80,847,901 (GRCm39) missense probably damaging 0.96
R5123:Adsl UTSW 15 80,836,495 (GRCm39) splice site probably null
R5187:Adsl UTSW 15 80,833,106 (GRCm39) intron probably benign
R5416:Adsl UTSW 15 80,836,384 (GRCm39) splice site probably null
R5532:Adsl UTSW 15 80,848,110 (GRCm39) missense probably damaging 1.00
R5898:Adsl UTSW 15 80,845,554 (GRCm39) splice site probably null
R7401:Adsl UTSW 15 80,846,983 (GRCm39) missense probably damaging 1.00
R8544:Adsl UTSW 15 80,832,734 (GRCm39) start gained probably benign
R9712:Adsl UTSW 15 80,839,840 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGATTGGTGAGTAGAGGCTCG -3'
(R):5'- CCCAAGCTTCTTTGAGGGTAAG -3'

Sequencing Primer
(F):5'- TCGGGAGCAGCATAACAC -3'
(R):5'- CTTCTTTGAGGGTAAGGAAGCAGAC -3'
Posted On 2014-10-16