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)
|
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
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 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 |
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
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 |
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
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: 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
Domain | Start | End | E-Value | Type |
Pfam:Kinetochor_Ybp2
|
1 |
100 |
5.8e-19 |
PFAM |
|
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 |
|
Meta Mutation Damage Score |
0.1243 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |