Incidental Mutation 'R7314:Rpap2'
| ID |
567819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpap2
|
| Ensembl Gene |
ENSMUSG00000033773 |
| Gene Name |
RNA polymerase II associated protein 2 |
| Synonyms |
|
| MMRRC Submission |
045412-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7314 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
107745239-107809704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107768245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 361
(V361A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065422]
[ENSMUST00000112650]
[ENSMUST00000112651]
[ENSMUST00000112654]
[ENSMUST00000112655]
|
| AlphaFold |
Q8VC34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065422
AA Change: V361A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773
AA Change: V361A
| 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 damaging
Transcript: ENSMUST00000112650
AA Change: V282A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108269
Gene: ENSMUSG00000033773
AA Change: V282A
| 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 |
possibly damaging
Transcript: ENSMUST00000112651
AA Change: V284A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108270
Gene: ENSMUSG00000033773
AA Change: V284A
| 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: ENSMUST00000112654
AA Change: V361A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773
AA Change: V361A
| 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 |
possibly damaging
Transcript: ENSMUST00000112655
AA Change: V361A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773
AA Change: V361A
| 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 |
|
| Meta Mutation Damage Score |
0.0600 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
G |
A |
7: 29,989,320 (GRCm39) |
V177I |
unknown |
Het |
| 4930596D02Rik |
A |
G |
14: 35,533,606 (GRCm39) |
V54A |
probably benign |
Het |
| Abcc10 |
C |
A |
17: 46,626,330 (GRCm39) |
A704S |
probably damaging |
Het |
| Adss2 |
A |
G |
1: 177,595,317 (GRCm39) |
W408R |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,135,414 (GRCm39) |
E548G |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,959,330 (GRCm39) |
V415I |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,706,343 (GRCm39) |
V942A |
probably damaging |
Het |
| Cstf1 |
A |
G |
2: 172,214,954 (GRCm39) |
D25G |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,612,819 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
G |
A |
11: 65,880,677 (GRCm39) |
T2640I |
probably benign |
Het |
| Dnase2b |
T |
C |
3: 146,288,151 (GRCm39) |
I315V |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,295 (GRCm39) |
S397G |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,090 (GRCm39) |
V171A |
possibly damaging |
Het |
| Ghdc |
T |
C |
11: 100,659,928 (GRCm39) |
E273G |
probably damaging |
Het |
| Hmgn2-ps |
C |
T |
8: 73,058,839 (GRCm39) |
G63R |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,645,541 (GRCm39) |
S409T |
probably benign |
Het |
| Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
| Jph4 |
TCCATTCTCGTATACCCCA |
TCCA |
14: 55,347,196 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
A |
G |
16: 19,775,755 (GRCm39) |
Y268H |
probably damaging |
Het |
| Krt16 |
T |
C |
11: 100,138,695 (GRCm39) |
D197G |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,277,563 (GRCm39) |
K594E |
possibly damaging |
Het |
| Lgi3 |
T |
C |
14: 70,769,552 (GRCm39) |
F84S |
probably damaging |
Het |
| Lingo3 |
T |
C |
10: 80,670,707 (GRCm39) |
I408V |
possibly damaging |
Het |
| Map3k7 |
G |
T |
4: 31,985,769 (GRCm39) |
E231* |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,088,078 (GRCm39) |
S1160P |
probably benign |
Het |
| Oas1g |
A |
T |
5: 121,016,526 (GRCm39) |
L301Q |
probably damaging |
Het |
| Obox3 |
T |
A |
7: 15,361,079 (GRCm39) |
Q62L |
possibly damaging |
Het |
| Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
| Or6b13 |
A |
T |
7: 139,782,326 (GRCm39) |
V119D |
probably damaging |
Het |
| Parp8 |
G |
T |
13: 117,004,996 (GRCm39) |
F727L |
probably benign |
Het |
| Pcdha1 |
T |
C |
18: 37,064,553 (GRCm39) |
Y406H |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,896,052 (GRCm39) |
D374G |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,289,783 (GRCm39) |
L539* |
probably null |
Het |
| Phkb |
A |
G |
8: 86,669,021 (GRCm39) |
|
probably null |
Het |
| Ppp1r13b |
T |
C |
12: 111,812,790 (GRCm39) |
E143G |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,384,711 (GRCm39) |
T326A |
probably benign |
Het |
| Smad9 |
A |
G |
3: 54,696,744 (GRCm39) |
N270D |
probably benign |
Het |
| Sntg2 |
A |
G |
12: 30,317,107 (GRCm39) |
S172P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,154,150 (GRCm39) |
L101P |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tmprss11f |
T |
C |
5: 86,671,912 (GRCm39) |
T427A |
possibly damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,489 (GRCm39) |
V165A |
possibly damaging |
Het |
| Ubr3 |
T |
A |
2: 69,821,944 (GRCm39) |
L1402Q |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,850,622 (GRCm39) |
|
probably null |
Het |
| Zfp369 |
T |
C |
13: 65,439,918 (GRCm39) |
S201P |
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 |
|
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 |
|
|
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'- AGTGGCCACTTGTAAACGTCC -3'
(R):5'- CCTGGGTCACAACTTATGTCATC -3'
Sequencing Primer
(F):5'- GGCCACTTGTAAACGTCCTTTAAAG -3'
(R):5'- GGGTCACAACTTATGTCATCTTCATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation