Incidental Mutation 'IGL00654:Rpap2'
ID 13857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpap2
Ensembl Gene ENSMUSG00000033773
Gene Name RNA polymerase II associated protein 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00654
Quality Score
Status
Chromosome 5
Chromosomal Location 107745239-107809704 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 107751497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065422] [ENSMUST00000112650] [ENSMUST00000112651] [ENSMUST00000112654] [ENSMUST00000112655] [ENSMUST00000129483] [ENSMUST00000150074]
AlphaFold Q8VC34
Predicted Effect probably benign
Transcript: ENSMUST00000065422
SMART Domains Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773

DomainStartEndE-ValueType
Pfam:RPAP2_Rtr1 80 152 3.6e-26 PFAM
low complexity region 208 221 N/A INTRINSIC
low complexity region 373 384 N/A INTRINSIC
low complexity region 559 573 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112650
SMART Domains Protein: ENSMUSP00000108269
Gene: ENSMUSG00000033773

DomainStartEndE-ValueType
Pfam:RPAP2_Rtr1 1 74 1.7e-28 PFAM
low complexity region 129 142 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112651
SMART Domains Protein: ENSMUSP00000108270
Gene: ENSMUSG00000033773

DomainStartEndE-ValueType
Pfam:RPAP2_Rtr1 1 76 1.9e-28 PFAM
low complexity region 131 144 N/A INTRINSIC
low complexity region 296 307 N/A INTRINSIC
low complexity region 482 496 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112654
SMART Domains Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773

DomainStartEndE-ValueType
Pfam:RPAP2_Rtr1 78 153 1.8e-28 PFAM
low complexity region 208 221 N/A INTRINSIC
low complexity region 373 384 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112655
SMART Domains Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773

DomainStartEndE-ValueType
Pfam:RPAP2_Rtr1 78 153 4.1e-28 PFAM
low complexity region 208 221 N/A INTRINSIC
low complexity region 373 384 N/A INTRINSIC
low complexity region 560 570 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129483
SMART Domains Protein: ENSMUSP00000142510
Gene: ENSMUSG00000033773

DomainStartEndE-ValueType
Pfam:RPAP2_Rtr1 1 74 5.2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147284
Predicted Effect probably benign
Transcript: ENSMUST00000150074
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 T C 14: 68,886,877 (GRCm39) T46A probably benign Het
Cmya5 G A 13: 93,230,669 (GRCm39) S1473L probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dcbld1 A C 10: 52,188,945 (GRCm39) I186L probably benign Het
Dgkh A C 14: 78,847,033 (GRCm39) M367R possibly damaging Het
Myb T C 10: 21,017,725 (GRCm39) D622G probably damaging Het
Nbeal1 A G 1: 60,234,170 (GRCm39) probably benign Het
Nlrp14 G T 7: 106,795,351 (GRCm39) L211F probably damaging Het
Pbrm1 T A 14: 30,754,361 (GRCm39) probably benign Het
Pcdhb13 A T 18: 37,576,774 (GRCm39) D384V possibly damaging Het
Ppl T C 16: 4,905,172 (GRCm39) I1708V possibly damaging Het
Prdx1 G A 4: 116,550,162 (GRCm39) D115N probably benign Het
Prdx1 C T 4: 116,550,147 (GRCm39) R110C probably benign Het
Prep C T 10: 44,991,269 (GRCm39) R312W probably damaging Het
Rubcn A T 16: 32,644,747 (GRCm39) probably null Het
Sumf2 G T 5: 129,882,918 (GRCm39) probably benign Het
Tek A G 4: 94,715,538 (GRCm39) T359A probably benign Het
Thrap3 C T 4: 126,059,371 (GRCm39) G892S probably benign Het
Tlr12 C T 4: 128,511,233 (GRCm39) G339E probably benign Het
Usp39 A G 6: 72,305,607 (GRCm39) L392P probably damaging Het
Wbp2nl T C 15: 82,198,411 (GRCm39) V316A probably benign Het
Other mutations in Rpap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:Rpap2 APN 5 107,751,492 (GRCm39) critical splice donor site probably null
IGL01583:Rpap2 APN 5 107,768,061 (GRCm39) missense probably damaging 0.99
IGL01837:Rpap2 APN 5 107,773,835 (GRCm39) critical splice donor site probably null
IGL02343:Rpap2 APN 5 107,766,047 (GRCm39) splice site probably null
IGL02999:Rpap2 APN 5 107,749,697 (GRCm39) missense possibly damaging 0.61
IGL03261:Rpap2 APN 5 107,746,426 (GRCm39) missense possibly damaging 0.95
IGL03381:Rpap2 APN 5 107,768,067 (GRCm39) missense probably benign 0.00
R0077:Rpap2 UTSW 5 107,768,340 (GRCm39) missense probably damaging 1.00
R1698:Rpap2 UTSW 5 107,751,416 (GRCm39) missense probably damaging 1.00
R1897:Rpap2 UTSW 5 107,780,961 (GRCm39) missense possibly damaging 0.85
R3039:Rpap2 UTSW 5 107,749,661 (GRCm39) missense possibly damaging 0.95
R3605:Rpap2 UTSW 5 107,768,395 (GRCm39) missense probably damaging 1.00
R3735:Rpap2 UTSW 5 107,803,017 (GRCm39) splice site probably benign
R4007:Rpap2 UTSW 5 107,751,738 (GRCm39) missense probably damaging 1.00
R4367:Rpap2 UTSW 5 107,749,661 (GRCm39) missense possibly damaging 0.95
R4448:Rpap2 UTSW 5 107,749,661 (GRCm39) missense possibly damaging 0.95
R4589:Rpap2 UTSW 5 107,768,361 (GRCm39) missense probably benign 0.00
R4606:Rpap2 UTSW 5 107,749,661 (GRCm39) missense possibly damaging 0.95
R4799:Rpap2 UTSW 5 107,768,113 (GRCm39) missense probably benign 0.00
R4939:Rpap2 UTSW 5 107,751,491 (GRCm39) critical splice donor site probably null
R5580:Rpap2 UTSW 5 107,768,011 (GRCm39) missense probably benign 0.12
R6003:Rpap2 UTSW 5 107,749,767 (GRCm39) splice site probably null
R6032:Rpap2 UTSW 5 107,745,661 (GRCm39) missense probably damaging 0.97
R6032:Rpap2 UTSW 5 107,745,661 (GRCm39) missense probably damaging 0.97
R6142:Rpap2 UTSW 5 107,746,164 (GRCm39) missense probably benign
R6161:Rpap2 UTSW 5 107,768,536 (GRCm39) missense probably damaging 1.00
R6687:Rpap2 UTSW 5 107,751,496 (GRCm39) splice site probably null
R6761:Rpap2 UTSW 5 107,768,104 (GRCm39) missense probably benign
R6783:Rpap2 UTSW 5 107,803,153 (GRCm39) missense probably damaging 0.99
R7106:Rpap2 UTSW 5 107,780,988 (GRCm39) nonsense probably null
R7314:Rpap2 UTSW 5 107,768,245 (GRCm39) missense probably damaging 0.96
R7402:Rpap2 UTSW 5 107,768,324 (GRCm39) nonsense probably null
R7644:Rpap2 UTSW 5 107,768,167 (GRCm39) missense probably benign 0.04
R7782:Rpap2 UTSW 5 107,768,058 (GRCm39) missense probably benign 0.08
R7890:Rpap2 UTSW 5 107,754,777 (GRCm39) missense probably damaging 1.00
R8010:Rpap2 UTSW 5 107,751,471 (GRCm39) missense probably damaging 1.00
R8955:Rpap2 UTSW 5 107,768,361 (GRCm39) missense possibly damaging 0.63
R9114:Rpap2 UTSW 5 107,746,156 (GRCm39) missense possibly damaging 0.66
R9475:Rpap2 UTSW 5 107,768,455 (GRCm39) missense probably damaging 1.00
R9542:Rpap2 UTSW 5 107,768,180 (GRCm39) missense probably benign
R9631:Rpap2 UTSW 5 107,768,292 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06