Incidental Mutation 'R2867:Adss2'
ID 266377
Institutional Source Beutler Lab
Gene Symbol Adss2
Ensembl Gene ENSMUSG00000015961
Gene Name adenylosuccinate synthase 2
Synonyms Adss, AS
MMRRC Submission 040456-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2867 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 177590742-177624275 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 177595378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000016105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016105]
AlphaFold P46664
Predicted Effect probably null
Transcript: ENSMUST00000016105
SMART Domains Protein: ENSMUSP00000016105
Gene: ENSMUSG00000015961

DomainStartEndE-ValueType
Adenylsucc_synt 30 454 7e-252 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159184
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (30/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid3c T C 4: 41,725,958 (GRCm39) D215G probably damaging Het
Birc2 A C 9: 7,834,478 (GRCm39) M1R probably null Het
Caprin2 G A 6: 148,747,738 (GRCm39) silent Het
Cog4 C A 8: 111,593,291 (GRCm39) probably benign Het
Cpz T C 5: 35,659,705 (GRCm39) K647E probably benign Het
Ctnna2 T C 6: 77,091,905 (GRCm39) probably benign Het
Cyp7a1 T C 4: 6,272,493 (GRCm39) E240G probably damaging Het
Dnaaf11 A T 15: 66,310,257 (GRCm39) L337* probably null Het
Efhc2 A T X: 17,027,484 (GRCm39) probably benign Homo
Epha6 T C 16: 59,780,659 (GRCm39) probably null Het
Evc T A 5: 37,473,619 (GRCm39) probably benign Het
Fbf1 A G 11: 116,052,274 (GRCm39) probably benign Het
Grin2b A G 6: 135,710,637 (GRCm39) F970L probably damaging Het
Gtf3c4 A G 2: 28,729,916 (GRCm39) probably benign Het
Kcnma1 A T 14: 23,423,275 (GRCm39) N682K probably benign Het
Kif20b A G 19: 34,917,528 (GRCm39) E631G probably damaging Het
Lctl T C 9: 64,045,150 (GRCm39) S550P probably benign Het
Mapk10 C T 5: 103,186,548 (GRCm39) D25N probably benign Het
Mgst2 A G 3: 51,571,954 (GRCm39) silent Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
N4bp1 T C 8: 87,588,033 (GRCm39) N302D probably benign Het
Pcdh7 A T 5: 57,879,236 (GRCm39) K930N probably damaging Het
Pramel16 T A 4: 143,675,456 (GRCm39) I457L probably benign Het
Proca1 A T 11: 78,095,806 (GRCm39) N146I probably damaging Het
RP23-211L5.9 T C 6: 68,872,634 (GRCm39) probably null Het
Ryr2 A T 13: 11,776,235 (GRCm39) W1101R probably damaging Het
Slc35d3 T C 10: 19,725,209 (GRCm39) T216A probably benign Het
Terb1 C T 8: 105,174,485 (GRCm39) probably benign Het
Thnsl2 C A 6: 71,108,945 (GRCm39) D289Y probably damaging Het
Tigd4 A G 3: 84,501,259 (GRCm39) N59D possibly damaging Het
Togaram2 T C 17: 72,016,592 (GRCm39) S649P probably benign Het
Tradd G T 8: 105,986,145 (GRCm39) F182L probably benign Het
Trav17 A T 14: 54,044,383 (GRCm39) Y50F probably benign Het
Usp37 A T 1: 74,489,691 (GRCm39) D808E probably damaging Het
Usp42 G A 5: 143,701,219 (GRCm39) P935S possibly damaging Het
Vmn2r23 A G 6: 123,690,123 (GRCm39) D333G possibly damaging Het
Zfpm2 C T 15: 40,962,785 (GRCm39) A149V probably benign Het
Other mutations in Adss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01094:Adss2 APN 1 177,612,508 (GRCm39) missense probably damaging 0.99
IGL01770:Adss2 APN 1 177,604,075 (GRCm39) missense possibly damaging 0.58
IGL02511:Adss2 APN 1 177,598,700 (GRCm39) splice site probably benign
kahl UTSW 1 177,623,954 (GRCm39) missense probably benign
maiden UTSW 1 177,597,526 (GRCm39) missense probably damaging 1.00
Targarian UTSW 1 177,604,395 (GRCm39) missense probably benign 0.00
R0087:Adss2 UTSW 1 177,598,788 (GRCm39) missense probably benign 0.05
R0607:Adss2 UTSW 1 177,595,253 (GRCm39) missense possibly damaging 0.72
R1496:Adss2 UTSW 1 177,599,760 (GRCm39) missense probably benign 0.13
R1888:Adss2 UTSW 1 177,612,517 (GRCm39) nonsense probably null
R1888:Adss2 UTSW 1 177,612,517 (GRCm39) nonsense probably null
R1958:Adss2 UTSW 1 177,597,544 (GRCm39) missense probably damaging 1.00
R2867:Adss2 UTSW 1 177,595,378 (GRCm39) splice site probably null
R3886:Adss2 UTSW 1 177,595,335 (GRCm39) missense probably damaging 1.00
R3888:Adss2 UTSW 1 177,595,335 (GRCm39) missense probably damaging 1.00
R4288:Adss2 UTSW 1 177,604,078 (GRCm39) missense probably damaging 1.00
R5373:Adss2 UTSW 1 177,623,954 (GRCm39) missense probably benign
R5374:Adss2 UTSW 1 177,623,954 (GRCm39) missense probably benign
R5729:Adss2 UTSW 1 177,623,824 (GRCm39) missense possibly damaging 0.92
R6244:Adss2 UTSW 1 177,604,395 (GRCm39) missense probably benign 0.00
R6314:Adss2 UTSW 1 177,595,334 (GRCm39) missense probably damaging 1.00
R6777:Adss2 UTSW 1 177,603,902 (GRCm39) splice site probably null
R7314:Adss2 UTSW 1 177,595,317 (GRCm39) missense probably damaging 1.00
R7577:Adss2 UTSW 1 177,595,263 (GRCm39) nonsense probably null
R7748:Adss2 UTSW 1 177,599,768 (GRCm39) nonsense probably null
R7764:Adss2 UTSW 1 177,591,827 (GRCm39) missense probably damaging 0.98
R8171:Adss2 UTSW 1 177,623,917 (GRCm39) missense probably benign 0.00
R8885:Adss2 UTSW 1 177,597,526 (GRCm39) missense probably damaging 1.00
R8984:Adss2 UTSW 1 177,601,280 (GRCm39) splice site probably benign
R9344:Adss2 UTSW 1 177,597,527 (GRCm39) missense probably damaging 1.00
Z1176:Adss2 UTSW 1 177,624,064 (GRCm39) start gained probably benign
Z1176:Adss2 UTSW 1 177,604,059 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGCTCATAAAGTGTTTACCTGG -3'
(R):5'- TATGACACAAGTCTGGTTTTGAGG -3'

Sequencing Primer
(F):5'- GTTTACCTGGTATTTGAAGCTCATC -3'
(R):5'- GAACTGGCCATAATGGTTCATG -3'
Posted On 2015-02-18