Incidental Mutation 'IGL02668:Adprm'
ID302799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adprm
Ensembl Gene ENSMUSG00000020910
Gene NameADP-ribose/CDP-alcohol diphosphatase, manganese dependent
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02668
Quality Score
Status
Chromosome11
Chromosomal Location67037905-67052594 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 67040247 bp
ZygosityHeterozygous
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]
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: 35,810,117 M167T probably benign Het
Abcc4 G T 14: 118,611,475 S488R probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Casc1 G T 6: 145,205,257 R30S unknown Het
Ccdc66 T C 14: 27,497,341 K309E possibly damaging Het
Cyb561d2 C T 9: 107,540,172 A127T probably benign Het
Dctn1 T A 6: 83,191,048 M357K possibly damaging Het
Diras2 T C 13: 52,507,770 N167S probably benign Het
Dmgdh T G 13: 93,703,910 V283G probably damaging Het
Dmxl2 A T 9: 54,416,945 W1052R probably damaging Het
Dnah6 A T 6: 73,121,823 V2083D possibly damaging Het
Exoc4 T G 6: 33,921,532 F895L probably benign Het
Fsip1 G T 2: 118,251,725 A76E probably benign Het
Fsip2 A G 2: 82,998,318 I6820V probably benign Het
Hdac10 G A 15: 89,125,644 P395L probably benign Het
Ing3 A G 6: 21,950,059 D17G probably damaging Het
Map3k4 A T 17: 12,235,953 F1383L possibly damaging Het
Mpp6 C T 6: 50,194,529 T386I probably damaging Het
Myct1 C A 10: 5,604,513 P127T probably damaging Het
Olfr593 A T 7: 103,212,735 I281F possibly damaging Het
Osbpl7 G T 11: 97,067,205 A625S possibly damaging Het
Padi2 C T 4: 140,949,880 R660C probably benign Het
Paip1 A T 13: 119,438,071 I185F probably damaging Het
Phykpl G A 11: 51,593,687 probably null Het
Plekhg6 G A 6: 125,372,803 probably benign Het
Plxna1 A T 6: 89,357,269 L126* probably null Het
Rchy1 A T 5: 91,962,718 M1K probably null Het
Rfx3 T C 19: 27,815,614 probably benign Het
Sdr9c7 T C 10: 127,902,398 F182L probably damaging Het
Sgpl1 A C 10: 61,105,450 V294G probably damaging Het
Sh2b1 A G 7: 126,472,474 S180P possibly damaging Het
Sorbs1 T C 19: 40,314,681 D488G probably damaging Het
Stab2 A G 10: 86,846,163 probably benign Het
Sycp1 A C 3: 102,820,531 probably benign Het
Tmem245 T C 4: 56,925,081 K347E possibly damaging Het
Tnk1 A G 11: 69,856,923 M51T probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubd G T 17: 37,195,529 R102L probably benign Het
Uhrf1bp1 A C 17: 27,886,575 I692L possibly damaging Het
Vmn2r103 G T 17: 19,794,127 A394S probably benign Het
Zfp324 T A 7: 12,970,846 C321S probably damaging Het
Zfp488 G T 14: 33,970,820 Q129K probably benign Het
Zmpste24 T A 4: 121,061,100 N442Y probably damaging Het
Other mutations in Adprm
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0179:Adprm UTSW 11 67038225 missense possibly damaging 0.79
R1493:Adprm UTSW 11 67041876 missense possibly damaging 0.95
R1636:Adprm UTSW 11 67041723 missense possibly damaging 0.91
R1999:Adprm UTSW 11 67038229 missense probably benign 0.03
R2085:Adprm UTSW 11 67041852 missense probably damaging 1.00
R2150:Adprm UTSW 11 67038229 missense probably benign 0.03
R4387:Adprm UTSW 11 67038193 missense probably benign 0.00
R4389:Adprm UTSW 11 67038193 missense probably benign 0.00
R4995:Adprm UTSW 11 67041610 missense possibly damaging 0.95
R5015:Adprm UTSW 11 67042030 missense possibly damaging 0.95
R7250:Adprm UTSW 11 67041624 missense probably benign 0.00
Posted On2015-04-16