Incidental Mutation 'R6032:Rpap2'
ID 486321
Institutional Source Beutler Lab
Gene Symbol Rpap2
Ensembl Gene ENSMUSG00000033773
Gene Name RNA polymerase II associated protein 2
Synonyms
MMRRC Submission 044204-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6032 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 107745239-107809704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 107745661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 3 (D3A)
Ref Sequence ENSEMBL: ENSMUSP00000108274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065422] [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000112650] [ENSMUST00000112651] [ENSMUST00000112655] [ENSMUST00000112654] [ENSMUST00000124546] [ENSMUST00000124140] [ENSMUST00000129483] [ENSMUST00000150074]
AlphaFold Q8VC34
Predicted Effect probably damaging
Transcript: ENSMUST00000065422
AA Change: D3A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773
AA Change: D3A

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 damaging
Transcript: ENSMUST00000112655
AA Change: D3A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773
AA Change: D3A

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 damaging
Transcript: ENSMUST00000112654
AA Change: D3A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773
AA Change: D3A

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: ENSMUST00000143113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148505
Predicted Effect probably benign
Transcript: ENSMUST00000124546
SMART Domains Protein: ENSMUSP00000122129
Gene: ENSMUSG00000029276

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 95 6e-15 PFAM
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: ENSMUST00000129483
SMART Domains Protein: ENSMUSP00000142510
Gene: ENSMUSG00000033773

DomainStartEndE-ValueType
Pfam:RPAP2_Rtr1 1 74 5.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150074
Meta Mutation Damage Score 0.0924 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A2ml1 T A 6: 128,526,799 (GRCm39) K1071* probably null Het
Abca13 G T 11: 9,247,752 (GRCm39) V2500F possibly damaging Het
Adamdec1 T C 14: 68,816,633 (GRCm39) E85G probably damaging Het
Aldh8a1 T C 10: 21,264,970 (GRCm39) V199A probably benign Het
Aoc2 G A 11: 101,216,627 (GRCm39) V237M probably damaging Het
Aplp2 C T 9: 31,062,240 (GRCm39) R672H probably damaging Het
Apob A G 12: 8,045,513 (GRCm39) N886S probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atp6v1a T C 16: 43,927,303 (GRCm39) Y328C probably damaging Het
Bag4 T C 8: 26,267,521 (GRCm39) Y103C probably damaging Het
Crem C T 18: 3,267,673 (GRCm39) R190Q probably damaging Het
Crybg1 A G 10: 43,832,756 (GRCm39) S2000P probably damaging Het
Cubn T A 2: 13,329,995 (GRCm39) T2629S probably benign Het
Cyp3a44 G T 5: 145,714,756 (GRCm39) S465Y probably damaging Het
Daam2 A C 17: 49,793,525 (GRCm39) F331V probably damaging Het
Dnajc3 T C 14: 119,205,443 (GRCm39) S146P possibly damaging Het
Dscam A G 16: 96,451,191 (GRCm39) probably null Het
Fam184b G A 5: 45,740,238 (GRCm39) S316L probably benign Het
Fat2 G C 11: 55,144,760 (GRCm39) T4038S probably damaging Het
Fbxl19 C T 7: 127,360,437 (GRCm39) R439C probably damaging Het
Gm3454 T A 15: 75,183,448 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,617 (GRCm39) E284G probably benign Het
Grm1 A T 10: 10,595,549 (GRCm39) I693N probably damaging Het
Gsdme T A 6: 50,222,934 (GRCm39) Q127L probably damaging Het
Ifnlr1 A G 4: 135,432,937 (GRCm39) K458E probably benign Het
Kcns2 T C 15: 34,839,080 (GRCm39) F148L probably benign Het
Lama1 A G 17: 68,057,638 (GRCm39) T571A probably benign Het
Loxhd1 G A 18: 77,469,254 (GRCm39) V108M probably damaging Het
Mef2c A T 13: 83,810,478 (GRCm39) T375S probably benign Het
Ncor1 A T 11: 62,264,147 (GRCm39) D144E possibly damaging Het
Nos3 A T 5: 24,584,809 (GRCm39) T738S probably benign Het
Nrxn2 A T 19: 6,567,162 (GRCm39) T1353S probably damaging Het
Or2b7 G T 13: 21,740,077 (GRCm39) S38R probably benign Het
Or4f4b T C 2: 111,314,195 (GRCm39) L140P probably damaging Het
Or8g17 A G 9: 38,930,261 (GRCm39) I192T probably benign Het
Pfpl A G 19: 12,406,747 (GRCm39) T333A probably damaging Het
Postn A T 3: 54,284,137 (GRCm39) I565F possibly damaging Het
Ppef2 A G 5: 92,378,383 (GRCm39) V604A probably benign Het
Pramel13 A C 4: 144,119,598 (GRCm39) I323S possibly damaging Het
Prmt1 A G 7: 44,626,526 (GRCm39) probably null Het
Rel A G 11: 23,692,684 (GRCm39) S450P probably benign Het
Shisa9 T C 16: 11,802,772 (GRCm39) F110L possibly damaging Het
Slc25a10 A T 11: 120,385,784 (GRCm39) probably null Het
Slx4 A T 16: 3,798,021 (GRCm39) F1454L probably damaging Het
Smc1b A T 15: 84,950,430 (GRCm39) V1198D possibly damaging Het
Supt5 T C 7: 28,015,600 (GRCm39) Y879C probably damaging Het
Tbx15 T C 3: 99,259,833 (GRCm39) M568T probably benign Het
Tle4 T C 19: 14,429,472 (GRCm39) H698R possibly damaging Het
Trappc9 T C 15: 72,797,379 (GRCm39) N803D probably benign Het
Trim10 A T 17: 37,182,606 (GRCm39) R157S possibly damaging Het
Wsb1 T C 11: 79,131,025 (GRCm39) probably benign Het
Zfp106 T C 2: 120,365,874 (GRCm39) S178G probably benign Het
Zftraf1 C T 15: 76,543,058 (GRCm39) R34Q probably damaging 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
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
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'- CTTCTCCACTTCAGGTAGCG -3'
(R):5'- TGTAAGAGTGTGGGATTCCTCC -3'

Sequencing Primer
(F):5'- ACTTCAGGTAGCGCAGGC -3'
(R):5'- ACTAGGACAGCCTGCGTTG -3'
Posted On 2017-08-16