Incidental Mutation 'R4367:Rpap2'
ID 325794
Institutional Source Beutler Lab
Gene Symbol Rpap2
Ensembl Gene ENSMUSG00000033773
Gene Name RNA polymerase II associated protein 2
Synonyms
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 107745239-107809704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107749661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 62 (V62I)
Ref Sequence ENSEMBL: ENSMUSP00000108274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065422] [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000112650] [ENSMUST00000112651] [ENSMUST00000129483] [ENSMUST00000150074] [ENSMUST00000112655] [ENSMUST00000112654] [ENSMUST00000124140] [ENSMUST00000124546]
AlphaFold Q8VC34
Predicted Effect possibly damaging
Transcript: ENSMUST00000065422
AA Change: V62I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773
AA Change: V62I

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: ENSMUST00000078021
SMART Domains Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 563 5.6e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000082121
SMART Domains Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 563 3.5e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100949
SMART Domains Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 404 1.1e-63 PFAM
Pfam:Kinetochor_Ybp2 402 499 1.5e-17 PFAM
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: ENSMUST00000129483
SMART Domains Protein: ENSMUSP00000142510
Gene: ENSMUSG00000033773

DomainStartEndE-ValueType
Pfam:RPAP2_Rtr1 1 74 5.2e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150074
AA Change: V53I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000112655
AA Change: V62I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773
AA Change: V62I

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 possibly damaging
Transcript: ENSMUST00000112654
AA Change: V62I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773
AA Change: V62I

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 noncoding transcript
Transcript: ENSMUST00000147284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148505
Predicted Effect probably benign
Transcript: ENSMUST00000124140
SMART Domains Protein: ENSMUSP00000123224
Gene: ENSMUSG00000029276

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 100 5.8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124546
SMART Domains Protein: ENSMUSP00000122129
Gene: ENSMUSG00000029276

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 95 6e-15 PFAM
Meta Mutation Damage Score 0.1243 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign Het
Other mutations in Rpap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Rpap2 APN 5 107,751,497 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCTTCCATGTACACACTGGG -3'
(R):5'- TGGTCCTTTGTCTGTCAAGTCAAC -3'

Sequencing Primer
(F):5'- TTCCATGTACACACTGGGAAGAC -3'
(R):5'- TGTCTGTCAAGTCAACAAACAAAATC -3'
Posted On 2015-07-06