Incidental Mutation 'IGL02343:Rpap2'
ID289207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpap2
Ensembl Gene ENSMUSG00000033773
Gene NameRNA polymerase II associated protein 2
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02343
Quality Score
Status
Chromosome5
Chromosomal Location107597373-107661838 bp(+) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to A at 107618181 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065422] [ENSMUST00000112650] [ENSMUST00000112651] [ENSMUST00000112654] [ENSMUST00000112655]
Predicted Effect probably null
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 null
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 null
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 null
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 null
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik C A 5: 90,579,614 H364N probably damaging Het
Acbd5 T A 2: 23,087,495 N168K possibly damaging Het
Aig1 T C 10: 13,868,674 M29V probably damaging Het
Apba2 A G 7: 64,695,146 E28G probably damaging Het
Bglap3 T C 3: 88,369,116 N45S possibly damaging Het
Cables2 A G 2: 180,260,279 probably null Het
Cd109 A G 9: 78,688,955 probably benign Het
Cdk1 T C 10: 69,340,501 N259D probably benign Het
Ces1h A G 8: 93,352,026 *563R probably null Het
Cfap46 C T 7: 139,682,509 A115T probably damaging Het
Cry2 A T 2: 92,426,921 V101E possibly damaging Het
Cyp4a31 A G 4: 115,563,829 Y38C probably damaging Het
Dip2a T C 10: 76,319,478 Y130C probably benign Het
Eps8l1 A G 7: 4,472,124 T366A probably benign Het
Esr2 C T 12: 76,145,345 R303H probably benign Het
Fbxo41 T G 6: 85,478,171 L617F possibly damaging Het
Fbxw15 A T 9: 109,552,655 probably benign Het
Lrriq1 T A 10: 103,234,163 probably benign Het
Me1 A T 9: 86,654,641 probably null Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Muc19 T G 15: 91,894,234 noncoding transcript Het
Myo15b A G 11: 115,873,400 probably benign Het
Nav1 A T 1: 135,454,752 L1264* probably null Het
Nhlrc4 T C 17: 25,943,361 *137W probably null Het
Nrxn3 A G 12: 88,795,353 T57A probably damaging Het
Olfr1512 T A 14: 52,372,477 D192V probably damaging Het
Orc2 A T 1: 58,469,666 probably null Het
S100a9 T C 3: 90,695,224 H21R probably damaging Het
Spz1 T A 13: 92,575,546 M141L probably benign Het
Stk40 A G 4: 126,136,902 Y305C probably damaging Het
Stra6l A G 4: 45,869,588 Q218R probably damaging Het
T C A 17: 8,439,900 probably benign Het
Tep1 T C 14: 50,829,247 D2298G probably damaging Het
Trim40 A T 17: 36,889,138 L16Q probably benign Het
Tubb4a T C 17: 57,081,538 I163V probably benign Het
Vwc2 T A 11: 11,116,532 C207S probably damaging Het
Zfp407 A G 18: 84,209,724 I1920T possibly damaging Het
Zfp429 T C 13: 67,390,725 E200G probably damaging Het
Zfp451 C T 1: 33,776,493 C792Y probably damaging Het
Other mutations in Rpap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Rpap2 APN 5 107603631 unclassified probably benign
IGL01451:Rpap2 APN 5 107603626 critical splice donor site probably null
IGL01583:Rpap2 APN 5 107620195 missense probably damaging 0.99
IGL01837:Rpap2 APN 5 107625969 critical splice donor site probably null
IGL02999:Rpap2 APN 5 107601831 missense possibly damaging 0.61
IGL03261:Rpap2 APN 5 107598560 missense possibly damaging 0.95
IGL03381:Rpap2 APN 5 107620201 missense probably benign 0.00
R0077:Rpap2 UTSW 5 107620474 missense probably damaging 1.00
R1698:Rpap2 UTSW 5 107603550 missense probably damaging 1.00
R1897:Rpap2 UTSW 5 107633095 missense possibly damaging 0.85
R3039:Rpap2 UTSW 5 107601795 missense possibly damaging 0.95
R3605:Rpap2 UTSW 5 107620529 missense probably damaging 1.00
R3735:Rpap2 UTSW 5 107655151 splice site probably benign
R4007:Rpap2 UTSW 5 107603872 missense probably damaging 1.00
R4367:Rpap2 UTSW 5 107601795 missense possibly damaging 0.95
R4448:Rpap2 UTSW 5 107601795 missense possibly damaging 0.95
R4589:Rpap2 UTSW 5 107620495 missense probably benign 0.00
R4606:Rpap2 UTSW 5 107601795 missense possibly damaging 0.95
R4799:Rpap2 UTSW 5 107620247 missense probably benign 0.00
R4939:Rpap2 UTSW 5 107603625 critical splice donor site probably null
R5580:Rpap2 UTSW 5 107620145 missense probably benign 0.12
R6003:Rpap2 UTSW 5 107601901 unclassified probably null
R6032:Rpap2 UTSW 5 107597795 missense probably damaging 0.97
R6032:Rpap2 UTSW 5 107597795 missense probably damaging 0.97
R6142:Rpap2 UTSW 5 107598298 missense probably benign
R6161:Rpap2 UTSW 5 107620670 missense probably damaging 1.00
R6687:Rpap2 UTSW 5 107603630 splice site probably null
R6761:Rpap2 UTSW 5 107620238 missense probably benign
R6783:Rpap2 UTSW 5 107655287 missense probably damaging 0.99
R7106:Rpap2 UTSW 5 107633122 nonsense probably null
R7314:Rpap2 UTSW 5 107620379 missense probably damaging 0.96
R7402:Rpap2 UTSW 5 107620458 nonsense probably null
R7644:Rpap2 UTSW 5 107620301 missense probably benign 0.04
Posted On2015-04-16