Incidental Mutation 'R6003:Rpap2'
ID 482042
Institutional Source Beutler Lab
Gene Symbol Rpap2
Ensembl Gene ENSMUSG00000033773
Gene Name RNA polymerase II associated protein 2
Synonyms
MMRRC Submission 043252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6003 (G1)
Quality Score 211.009
Status Not validated
Chromosome 5
Chromosomal Location 107745239-107809704 bp(+) (GRCm39)
Type of Mutation splice site (104 bp from exon)
DNA Base Change (assembly) A to G at 107749767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065422] [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000112650] [ENSMUST00000112651] [ENSMUST00000112654] [ENSMUST00000112655] [ENSMUST00000129483] [ENSMUST00000150074] [ENSMUST00000124140] [ENSMUST00000124546]
AlphaFold Q8VC34
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 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 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
Predicted Effect probably null
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 noncoding transcript
Transcript: ENSMUST00000148505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143113
Predicted Effect probably null
Transcript: ENSMUST00000150074
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,312 (GRCm39) E157G probably benign Het
Abcb11 T C 2: 69,073,811 (GRCm39) K1238R probably benign Het
Ankar T A 1: 72,738,046 (GRCm39) E45D probably damaging Het
Antxrl G T 14: 33,797,592 (GRCm39) K522N possibly damaging Het
Ap1m1 A G 8: 73,003,011 (GRCm39) Y93C probably damaging Het
As3mt C T 19: 46,696,567 (GRCm39) T35M possibly damaging Het
Aspg T C 12: 112,079,476 (GRCm39) S85P probably damaging Het
Cachd1 T C 4: 100,809,216 (GRCm39) S234P possibly damaging Het
Ccdc3 T C 2: 5,146,218 (GRCm39) probably null Het
Cnpy1 T C 5: 28,450,759 (GRCm39) T16A probably benign Het
Cope T C 8: 70,757,285 (GRCm39) L43P probably benign Het
E2f8 T C 7: 48,520,525 (GRCm39) M599V probably benign Het
Eif3a A T 19: 60,755,319 (GRCm39) D954E unknown Het
Gfpt1 T A 6: 87,065,230 (GRCm39) probably null Het
Ggps1 T G 13: 14,228,587 (GRCm39) S145R probably benign Het
Gon4l A G 3: 88,803,400 (GRCm39) D1337G probably damaging Het
Gtf2a1l G T 17: 89,001,531 (GRCm39) G82V probably damaging Het
Gucy1b1 C A 3: 81,965,584 (GRCm39) L87F probably damaging Het
Hoxc9 T C 15: 102,890,311 (GRCm39) V76A probably benign Het
Ints2 T C 11: 86,129,294 (GRCm39) E460G probably damaging Het
Kdm4b C T 17: 56,703,916 (GRCm39) R756W probably damaging Het
Lax1 T A 1: 133,611,834 (GRCm39) I34F probably benign Het
Marveld3 A T 8: 110,680,960 (GRCm39) C312S probably damaging Het
Ncoa2 T C 1: 13,237,254 (GRCm39) D824G possibly damaging Het
Nrxn2 C A 19: 6,548,358 (GRCm39) A17D possibly damaging Het
Nup133 A T 8: 124,665,031 (GRCm39) I220N probably damaging Het
Nup205 T C 6: 35,189,751 (GRCm39) V984A probably benign Het
Nup54 A T 5: 92,570,853 (GRCm39) D318E probably damaging Het
Obp2a A T 2: 25,591,151 (GRCm39) K94N probably damaging Het
Or2ak5 A T 11: 58,611,196 (GRCm39) I226N probably benign Het
Or5b3 T C 19: 13,388,403 (GRCm39) S157P probably benign Het
Pappa2 T C 1: 158,763,820 (GRCm39) I564V probably benign Het
Parpbp A G 10: 87,969,020 (GRCm39) V142A possibly damaging Het
Rdh16f2 A T 10: 127,712,201 (GRCm39) R219S probably benign Het
Rfx6 C T 10: 51,584,683 (GRCm39) R228C probably damaging Het
Rskr T G 11: 78,183,846 (GRCm39) probably null Het
Slc15a2 T C 16: 36,574,910 (GRCm39) I531V probably benign Het
Srebf1 T C 11: 60,097,930 (GRCm39) E58G possibly damaging Het
Tmem214 C A 5: 31,028,068 (GRCm39) T96K possibly damaging Het
Usp19 T C 9: 108,373,579 (GRCm39) Y691H probably damaging Het
Vmn1r86 C T 7: 12,836,125 (GRCm39) W200* probably null Het
Vmn2r8 A T 5: 108,945,248 (GRCm39) S786R probably damaging Het
Vps52 T A 17: 34,175,068 (GRCm39) M1K probably null Het
Zzef1 T A 11: 72,714,891 (GRCm39) probably null 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
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
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'- AGGAGAAGTCTTGAATTGGGTTAAC -3'
(R):5'- TGTAGAACCCAGGACTAGAGC -3'

Sequencing Primer
(F):5'- TTAAAATTTCAGGCAAGCAGAACTGG -3'
(R):5'- ACCCAGGACTAGAGCCCAGG -3'
Posted On 2017-06-27