Incidental Mutation 'IGL02668:Adprm'
ID 302799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adprm
Ensembl Gene ENSMUSG00000020910
Gene Name ADP-ribose/CDP-alcohol diphosphatase, manganese dependent
Synonyms 2310004I24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02668
Quality Score
Status
Chromosome 11
Chromosomal Location 66928731-66943420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 66931073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 230 (D230E)
Ref Sequence ENSEMBL: ENSMUSP00000112064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061786] [ENSMUST00000116363] [ENSMUST00000146338]
AlphaFold Q99KS6
Predicted Effect probably benign
Transcript: ENSMUST00000061786
SMART Domains Protein: ENSMUSP00000057366
Gene: ENSMUSG00000050270

DomainStartEndE-ValueType
Pfam:TMEM220 23 122 4e-30 PFAM
transmembrane domain 127 149 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000116363
AA Change: D230E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112064
Gene: ENSMUSG00000020910
AA Change: D230E

DomainStartEndE-ValueType
Pfam:Metallophos 18 282 1.8e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136013
Predicted Effect probably benign
Transcript: ENSMUST00000146338
SMART Domains Protein: ENSMUSP00000137768
Gene: ENSMUSG00000020910

DomainStartEndE-ValueType
PDB:2NXF|A 13 199 4e-47 PDB
SCOP:d1utea_ 15 176 3e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148379
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,532,074 (GRCm39) M167T probably benign Het
Abcc4 G T 14: 118,848,887 (GRCm39) S488R probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bltp3a A C 17: 28,105,549 (GRCm39) I692L possibly damaging Het
Ccdc66 T C 14: 27,219,298 (GRCm39) K309E possibly damaging Het
Cyb561d2 C T 9: 107,417,371 (GRCm39) A127T probably benign Het
Dctn1 T A 6: 83,168,030 (GRCm39) M357K possibly damaging Het
Diras2 T C 13: 52,661,806 (GRCm39) N167S probably benign Het
Dmgdh T G 13: 93,840,418 (GRCm39) V283G probably damaging Het
Dmxl2 A T 9: 54,324,229 (GRCm39) W1052R probably damaging Het
Dnah6 A T 6: 73,098,806 (GRCm39) V2083D possibly damaging Het
Dnai7 G T 6: 145,150,983 (GRCm39) R30S unknown Het
Exoc4 T G 6: 33,898,467 (GRCm39) F895L probably benign Het
Fsip1 G T 2: 118,082,206 (GRCm39) A76E probably benign Het
Fsip2 A G 2: 82,828,662 (GRCm39) I6820V probably benign Het
Hdac10 G A 15: 89,009,847 (GRCm39) P395L probably benign Het
Ing3 A G 6: 21,950,058 (GRCm39) D17G probably damaging Het
Map3k4 A T 17: 12,454,840 (GRCm39) F1383L possibly damaging Het
Myct1 C A 10: 5,554,513 (GRCm39) P127T probably damaging Het
Or52s1 A T 7: 102,861,942 (GRCm39) I281F possibly damaging Het
Osbpl7 G T 11: 96,958,031 (GRCm39) A625S possibly damaging Het
Padi2 C T 4: 140,677,191 (GRCm39) R660C probably benign Het
Paip1 A T 13: 119,574,607 (GRCm39) I185F probably damaging Het
Pals2 C T 6: 50,171,509 (GRCm39) T386I probably damaging Het
Phykpl G A 11: 51,484,514 (GRCm39) probably null Het
Plekhg6 G A 6: 125,349,766 (GRCm39) probably benign Het
Plxna1 A T 6: 89,334,251 (GRCm39) L126* probably null Het
Rchy1 A T 5: 92,110,577 (GRCm39) M1K probably null Het
Rfx3 T C 19: 27,793,014 (GRCm39) probably benign Het
Sdr9c7 T C 10: 127,738,267 (GRCm39) F182L probably damaging Het
Sgpl1 A C 10: 60,941,229 (GRCm39) V294G probably damaging Het
Sh2b1 A G 7: 126,071,646 (GRCm39) S180P possibly damaging Het
Sorbs1 T C 19: 40,303,125 (GRCm39) D488G probably damaging Het
Stab2 A G 10: 86,682,027 (GRCm39) probably benign Het
Sycp1 A C 3: 102,727,847 (GRCm39) probably benign Het
Tmem245 T C 4: 56,925,081 (GRCm39) K347E possibly damaging Het
Tnk1 A G 11: 69,747,749 (GRCm39) M51T probably damaging Het
Trpm2 C T 10: 77,771,776 (GRCm39) R621H probably damaging Het
Ubd G T 17: 37,506,420 (GRCm39) R102L probably benign Het
Vmn2r103 G T 17: 20,014,389 (GRCm39) A394S probably benign Het
Zfp324 T A 7: 12,704,773 (GRCm39) C321S probably damaging Het
Zfp488 G T 14: 33,692,777 (GRCm39) Q129K probably benign Het
Zmpste24 T A 4: 120,918,297 (GRCm39) N442Y probably damaging Het
Other mutations in Adprm
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0179:Adprm UTSW 11 66,929,051 (GRCm39) missense possibly damaging 0.79
R1493:Adprm UTSW 11 66,932,702 (GRCm39) missense possibly damaging 0.95
R1636:Adprm UTSW 11 66,932,549 (GRCm39) missense possibly damaging 0.91
R1999:Adprm UTSW 11 66,929,055 (GRCm39) missense probably benign 0.03
R2085:Adprm UTSW 11 66,932,678 (GRCm39) missense probably damaging 1.00
R2150:Adprm UTSW 11 66,929,055 (GRCm39) missense probably benign 0.03
R4387:Adprm UTSW 11 66,929,019 (GRCm39) missense probably benign 0.00
R4389:Adprm UTSW 11 66,929,019 (GRCm39) missense probably benign 0.00
R4995:Adprm UTSW 11 66,932,436 (GRCm39) missense possibly damaging 0.95
R5015:Adprm UTSW 11 66,932,856 (GRCm39) missense possibly damaging 0.95
R7250:Adprm UTSW 11 66,932,450 (GRCm39) missense probably benign 0.00
R8901:Adprm UTSW 11 66,932,564 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16