Incidental Mutation 'R1124:Macrod2'
ID 95936
Institutional Source Beutler Lab
Gene Symbol Macrod2
Ensembl Gene ENSMUSG00000068205
Gene Name mono-ADP ribosylhydrolase 2
Synonyms 1110033L15Rik, 2900006F19Rik, 2610107G07Rik
MMRRC Submission 039197-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1124 (G1)
Quality Score 209
Status Not validated
Chromosome 2
Chromosomal Location 140237229-142234886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140294547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 71 (K71R)
Ref Sequence ENSEMBL: ENSMUSP00000105690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078027] [ENSMUST00000110063] [ENSMUST00000110064] [ENSMUST00000110067]
AlphaFold Q3UYG8
Predicted Effect possibly damaging
Transcript: ENSMUST00000078027
AA Change: K71R

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
AA Change: K71R

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
A1pp 71 201 5.72e-45 SMART
low complexity region 266 293 N/A INTRINSIC
low complexity region 307 319 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110063
AA Change: K71R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105690
Gene: ENSMUSG00000068205
AA Change: K71R

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
PDB:4IQY|B 21 107 1e-36 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000110064
AA Change: K71R

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
AA Change: K71R

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
A1pp 71 201 5.72e-45 SMART
low complexity region 266 293 N/A INTRINSIC
low complexity region 307 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110067
AA Change: K71R

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205
AA Change: K71R

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
A1pp 71 201 5.72e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154505
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,384,039 (GRCm39) R642Q possibly damaging Het
Aadacl2fm3 A G 3: 59,772,639 (GRCm39) T48A probably benign Het
Aadacl4fm1 A G 4: 144,255,194 (GRCm39) T205A probably benign Het
Aadacl4fm4 T C 4: 144,396,845 (GRCm39) S296G probably benign Het
Anxa10 C T 8: 62,514,038 (GRCm39) probably null Het
Bcl11a A T 11: 24,113,928 (GRCm39) M424L probably damaging Het
Bhlhe41 A G 6: 145,809,456 (GRCm39) S119P probably damaging Het
C2cd3 A G 7: 100,071,888 (GRCm39) D1033G probably benign Het
Ccdc174 T C 6: 91,876,561 (GRCm39) V466A probably benign Het
Dnaaf11 T A 15: 66,310,264 (GRCm39) T335S possibly damaging Het
Drd2 T C 9: 49,306,940 (GRCm39) Y9H probably damaging Het
Fbxw14 T A 9: 109,105,236 (GRCm39) I310F possibly damaging Het
Grm3 C T 5: 9,620,297 (GRCm39) V316I probably benign Het
Gys2 A G 6: 142,391,739 (GRCm39) Y508H probably damaging Het
Lrp1b T A 2: 40,765,063 (GRCm39) D2921V probably damaging Het
Myh7 A T 14: 55,211,327 (GRCm39) V1614E possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or8k23 T A 2: 86,186,239 (GRCm39) K162N probably damaging Het
Pirb T A 7: 3,722,731 (GRCm39) N87I probably benign Het
Pmfbp1 A G 8: 110,257,115 (GRCm39) probably null Het
Rasa4 A G 5: 136,134,510 (GRCm39) N627S probably benign Het
Spata31d1b A C 13: 59,864,468 (GRCm39) M539L probably benign Het
Tbc1d23 A T 16: 57,034,525 (GRCm39) probably null Het
Tnfrsf1b A T 4: 144,950,926 (GRCm39) L229Q probably benign Het
Trip12 A T 1: 84,714,758 (GRCm39) V443E probably damaging Het
Ush2a G T 1: 188,485,733 (GRCm39) V2948L probably damaging Het
Vmn1r204 A T 13: 22,741,209 (GRCm39) Y280F possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmn2r93 G T 17: 18,518,710 (GRCm39) K56N probably benign Het
Xrn1 A G 9: 95,885,918 (GRCm39) I880V probably benign Het
Zfp106 C T 2: 120,365,195 (GRCm39) G404E probably benign Het
Other mutations in Macrod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Macrod2 APN 2 140,242,797 (GRCm39) missense probably damaging 0.99
IGL00661:Macrod2 APN 2 140,261,824 (GRCm39) critical splice acceptor site probably null
IGL00788:Macrod2 APN 2 142,052,069 (GRCm39) splice site probably benign
IGL00840:Macrod2 APN 2 142,018,578 (GRCm39) missense possibly damaging 0.53
IGL01160:Macrod2 APN 2 140,666,962 (GRCm39) splice site probably benign
IGL01357:Macrod2 APN 2 142,226,250 (GRCm39) missense probably damaging 1.00
IGL01453:Macrod2 APN 2 140,294,492 (GRCm39) splice site probably benign
IGL01910:Macrod2 APN 2 142,138,485 (GRCm39) missense probably benign 0.04
IGL02208:Macrod2 APN 2 142,216,196 (GRCm39) missense possibly damaging 0.55
IGL03013:Macrod2 APN 2 141,357,147 (GRCm39) missense probably benign 0.02
R0196:Macrod2 UTSW 2 142,018,545 (GRCm39) missense probably damaging 1.00
R0415:Macrod2 UTSW 2 142,052,065 (GRCm39) critical splice donor site probably null
R0699:Macrod2 UTSW 2 140,260,836 (GRCm39) critical splice donor site probably null
R0730:Macrod2 UTSW 2 142,059,594 (GRCm39) splice site probably benign
R1119:Macrod2 UTSW 2 140,242,826 (GRCm39) missense probably benign 0.00
R1422:Macrod2 UTSW 2 140,261,861 (GRCm39) splice site probably null
R3707:Macrod2 UTSW 2 141,652,549 (GRCm39) missense probably damaging 1.00
R3708:Macrod2 UTSW 2 141,652,549 (GRCm39) missense probably damaging 1.00
R3745:Macrod2 UTSW 2 141,652,549 (GRCm39) missense probably damaging 1.00
R4409:Macrod2 UTSW 2 140,260,777 (GRCm39) missense possibly damaging 0.66
R4666:Macrod2 UTSW 2 142,059,519 (GRCm39) missense probably damaging 0.99
R4782:Macrod2 UTSW 2 140,261,858 (GRCm39) missense possibly damaging 0.81
R4885:Macrod2 UTSW 2 140,261,985 (GRCm39) missense possibly damaging 0.66
R5180:Macrod2 UTSW 2 140,237,636 (GRCm39) missense probably damaging 1.00
R5524:Macrod2 UTSW 2 142,159,863 (GRCm39) missense possibly damaging 0.82
R5677:Macrod2 UTSW 2 142,018,587 (GRCm39) missense probably damaging 1.00
R5735:Macrod2 UTSW 2 140,260,809 (GRCm39) missense possibly damaging 0.66
R5750:Macrod2 UTSW 2 141,357,240 (GRCm39) missense probably benign 0.41
R5770:Macrod2 UTSW 2 141,074,102 (GRCm39) intron probably benign
R6029:Macrod2 UTSW 2 142,160,367 (GRCm39) missense probably damaging 0.99
R6174:Macrod2 UTSW 2 140,242,895 (GRCm39) start codon destroyed probably null
R6453:Macrod2 UTSW 2 142,018,545 (GRCm39) missense probably damaging 1.00
R6830:Macrod2 UTSW 2 140,294,602 (GRCm39) missense probably damaging 1.00
R6927:Macrod2 UTSW 2 142,098,441 (GRCm39) missense probably damaging 1.00
R6932:Macrod2 UTSW 2 140,261,833 (GRCm39) missense probably damaging 0.97
R7020:Macrod2 UTSW 2 142,231,795 (GRCm39) makesense probably null
R7886:Macrod2 UTSW 2 141,566,565 (GRCm39) missense probably damaging 1.00
R9245:Macrod2 UTSW 2 141,652,534 (GRCm39) missense probably benign 0.35
Z1176:Macrod2 UTSW 2 140,866,010 (GRCm39) missense probably damaging 1.00
Z1176:Macrod2 UTSW 2 140,548,128 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACCCAGTGGCTCATATTGGCTC -3'
(R):5'- AGCTTGCTGAACTACTTCTCACGAC -3'

Sequencing Primer
(F):5'- tggaagcagcgacaagg -3'
(R):5'- GCATGAAACCAGTAATCATTTAGCG -3'
Posted On 2014-01-05