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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:Kinetochor_Ybp2
|
1 |
563 |
5.6e-101 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082121
|
SMART Domains |
Protein: ENSMUSP00000080766 Gene: ENSMUSG00000029276
Domain | Start | End | E-Value | Type |
Pfam:Kinetochor_Ybp2
|
1 |
563 |
3.5e-99 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100949
|
SMART Domains |
Protein: ENSMUSP00000098509 Gene: ENSMUSG00000029276
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:Kinetochor_Ybp2
|
1 |
95 |
6e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124140
|
SMART Domains |
Protein: ENSMUSP00000123224 Gene: ENSMUSG00000029276
Domain | Start | End | E-Value | Type |
Pfam:Kinetochor_Ybp2
|
1 |
100 |
5.8e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129483
|
SMART Domains |
Protein: ENSMUSP00000142510 Gene: ENSMUSG00000033773
Domain | Start | End | E-Value | Type |
Pfam:RPAP2_Rtr1
|
1 |
74 |
5.2e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150074
|
Meta Mutation Damage Score |
0.0924 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |