Incidental Mutation 'R4288:Adss2'
ID 322086
Institutional Source Beutler Lab
Gene Symbol Adss2
Ensembl Gene ENSMUSG00000015961
Gene Name adenylosuccinate synthase 2
Synonyms Adss, AS
MMRRC Submission 041653-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4288 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 177590742-177624275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 177604078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 176 (R176W)
Ref Sequence ENSEMBL: ENSMUSP00000016105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016105]
AlphaFold P46664
Predicted Effect probably damaging
Transcript: ENSMUST00000016105
AA Change: R176W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016105
Gene: ENSMUSG00000015961
AA Change: R176W

DomainStartEndE-ValueType
Adenylsucc_synt 30 454 7e-252 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161808
Meta Mutation Damage Score 0.9630 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (34/35)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd G A 1: 127,666,309 (GRCm39) V27M probably damaging Het
Acsl6 A G 11: 54,227,912 (GRCm39) T311A probably benign Het
Akr7a5 T C 4: 139,041,415 (GRCm39) V108A probably benign Het
Atp13a1 A G 8: 70,246,728 (GRCm39) D209G possibly damaging Het
Bpnt2 A C 4: 4,778,231 (GRCm39) V169G probably damaging Het
Cdcp1 T A 9: 123,012,693 (GRCm39) I285F probably damaging Het
Ctnna2 C T 6: 77,582,204 (GRCm39) R339Q probably damaging Het
E130308A19Rik G A 4: 59,690,308 (GRCm39) M47I probably benign Het
Exosc9 C T 3: 36,617,365 (GRCm39) T373I probably benign Het
Fat4 T A 3: 38,945,912 (GRCm39) S1602T probably damaging Het
Fbn2 T C 18: 58,168,411 (GRCm39) I2309V probably damaging Het
Fbxo42 T C 4: 140,895,207 (GRCm39) Y57H probably damaging Het
Fcrl5 A G 3: 87,349,531 (GRCm39) D102G probably benign Het
Garin5b T A 7: 4,773,722 (GRCm39) N58Y possibly damaging Het
Gpr37l1 A G 1: 135,088,922 (GRCm39) V381A probably damaging Het
Hc G T 2: 34,920,414 (GRCm39) A644E probably damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Lpar5 T C 6: 125,058,827 (GRCm39) Y183H probably benign Het
Ltn1 T A 16: 87,194,876 (GRCm39) N1341I possibly damaging Het
Mms19 A G 19: 41,933,992 (GRCm39) L938P probably damaging Het
Neb T G 2: 52,149,312 (GRCm39) E2516D probably damaging Het
Parp4 T C 14: 56,844,951 (GRCm39) V614A probably damaging Het
Pogk A G 1: 166,231,075 (GRCm39) L84P probably damaging Het
Stard13 G A 5: 150,968,642 (GRCm39) T994M probably damaging Het
Stk4 A G 2: 163,941,632 (GRCm39) S283G probably benign Het
Ttn T C 2: 76,640,742 (GRCm39) T13669A probably benign Het
Vil1 A G 1: 74,457,684 (GRCm39) T106A probably benign Het
Vmn1r18 A G 6: 57,367,392 (GRCm39) L54P probably damaging Het
Vmn1r227 G T 17: 20,956,092 (GRCm39) noncoding transcript Het
Zfp267 A G 3: 36,213,747 (GRCm39) N27S possibly damaging Het
Zfp748 T A 13: 67,689,202 (GRCm39) H686L probably damaging Het
Zyg11a C T 4: 108,041,666 (GRCm39) S658N probably damaging 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
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
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'- AACCAGTTCATATGCCAGTCC -3'
(R):5'- CAAATAAGCTTACAGGAACTTGCAC -3'

Sequencing Primer
(F):5'- CAAACAGTATGGTTGGCTCTGTCC -3'
(R):5'- GCTTACAGGAACTTGCACAAATAG -3'
Posted On 2015-06-20