Incidental Mutation 'R4606:Rpap2'
| ID |
346006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpap2
|
| Ensembl Gene |
ENSMUSG00000033773 |
| Gene Name |
RNA polymerase II associated protein 2 |
| Synonyms |
|
| MMRRC Submission |
041817-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4606 (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]
[ENSMUST00000112654]
[ENSMUST00000129483]
[ENSMUST00000150074]
[ENSMUST00000112655]
[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 |
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 |
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 |
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (69/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
T |
8: 79,937,374 (GRCm39) |
W178R |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,896,345 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
A |
6: 34,283,599 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,634 (GRCm39) |
F1199S |
unknown |
Het |
| Atp4b |
A |
G |
8: 13,439,998 (GRCm39) |
F116S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,729,443 (GRCm39) |
S127P |
probably damaging |
Het |
| Blk |
C |
T |
14: 63,611,652 (GRCm39) |
V428I |
probably benign |
Het |
| Ccser1 |
T |
C |
6: 61,288,568 (GRCm39) |
S244P |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,173,951 (GRCm39) |
I235F |
probably damaging |
Het |
| Cyp2g1 |
T |
A |
7: 26,513,579 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,829,421 (GRCm39) |
I278F |
probably benign |
Het |
| Degs1 |
T |
C |
1: 182,104,388 (GRCm39) |
D299G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,113,210 (GRCm39) |
V1542I |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,095,248 (GRCm39) |
S2942R |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,016,015 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
A |
G |
6: 41,593,508 (GRCm39) |
Y518C |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,127,760 (GRCm39) |
F606I |
possibly damaging |
Het |
| Extl1 |
A |
G |
4: 134,098,690 (GRCm39) |
S114P |
probably damaging |
Het |
| Extl1 |
A |
C |
4: 134,098,691 (GRCm39) |
D113E |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,403,720 (GRCm39) |
V157A |
possibly damaging |
Het |
| Fcho1 |
A |
T |
8: 72,165,124 (GRCm39) |
D444E |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,450,036 (GRCm39) |
D71V |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,965,190 (GRCm39) |
D316E |
possibly damaging |
Het |
| Gys2 |
A |
T |
6: 142,400,210 (GRCm39) |
F334I |
possibly damaging |
Het |
| Ik |
G |
T |
18: 36,886,608 (GRCm39) |
R360L |
possibly damaging |
Het |
| Kazn |
A |
C |
4: 141,845,599 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
T |
15: 98,737,597 (GRCm39) |
|
probably benign |
Het |
| Krr1 |
T |
C |
10: 111,811,582 (GRCm39) |
|
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,384,930 (GRCm39) |
E389K |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,460,658 (GRCm39) |
V428A |
probably benign |
Het |
| Lvrn |
C |
A |
18: 46,997,832 (GRCm39) |
T260K |
possibly damaging |
Het |
| Mcc |
C |
T |
18: 44,601,488 (GRCm39) |
E614K |
probably damaging |
Het |
| Msrb3 |
A |
T |
10: 120,685,902 (GRCm39) |
V81D |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,832,268 (GRCm39) |
|
noncoding transcript |
Het |
| Myadm |
T |
A |
7: 3,345,916 (GRCm39) |
L226* |
probably null |
Het |
| Myof |
C |
T |
19: 37,955,547 (GRCm39) |
V526M |
probably damaging |
Het |
| Nckap5l |
A |
G |
15: 99,327,204 (GRCm39) |
|
probably benign |
Het |
| Or1r1 |
A |
G |
11: 73,874,718 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4b1 |
G |
T |
2: 89,979,160 (GRCm39) |
|
probably benign |
Het |
| Or4c35 |
C |
A |
2: 89,808,350 (GRCm39) |
A76D |
possibly damaging |
Het |
| Or9g10 |
T |
A |
2: 85,584,284 (GRCm39) |
|
probably benign |
Het |
| Pars2 |
T |
C |
4: 106,511,247 (GRCm39) |
V307A |
probably benign |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,581 (GRCm39) |
Y177* |
probably null |
Het |
| Pcdhb4 |
T |
A |
18: 37,441,705 (GRCm39) |
D338E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,224,780 (GRCm39) |
R199* |
probably null |
Het |
| Pla2g4f |
C |
T |
2: 120,144,467 (GRCm39) |
R24Q |
probably benign |
Het |
| Pnma2 |
T |
C |
14: 67,153,681 (GRCm39) |
I35T |
probably benign |
Het |
| Podn |
C |
A |
4: 107,875,064 (GRCm39) |
A568S |
probably benign |
Het |
| Pou3f1 |
A |
T |
4: 124,552,629 (GRCm39) |
E377V |
probably damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,038,929 (GRCm39) |
D494G |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,461 (GRCm39) |
D137E |
probably damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,929,495 (GRCm39) |
T71S |
possibly damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,486 (GRCm39) |
P1192L |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf217 |
T |
A |
10: 31,393,472 (GRCm39) |
K370* |
probably null |
Het |
| Scaper |
A |
T |
9: 55,563,187 (GRCm39) |
|
probably null |
Het |
| Sos2 |
T |
C |
12: 69,661,380 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
C |
T |
2: 119,897,927 (GRCm39) |
|
probably null |
Het |
| Sumo1 |
A |
G |
1: 59,683,668 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
C |
A |
12: 76,036,027 (GRCm39) |
N3771K |
probably damaging |
Het |
| Tbx18 |
T |
C |
9: 87,612,822 (GRCm39) |
I26V |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,955,988 (GRCm39) |
M1140K |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,966,356 (GRCm39) |
|
probably null |
Het |
| Wdr7 |
C |
T |
18: 63,913,016 (GRCm39) |
Q946* |
probably null |
Het |
| Ythdf1 |
T |
C |
2: 180,553,975 (GRCm39) |
D46G |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 169,961,670 (GRCm39) |
N219S |
possibly damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,577,953 (GRCm39) |
I256T |
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 |
|
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 |
|
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'- CAGCTTCCATGTACACACTGG -3'
(R):5'- GGTCCTTTGTCTGTCAAGTCAAC -3'
Sequencing Primer
(F):5'- TTCCATGTACACACTGGGAAGAC -3'
(R):5'- TGTCTGTCAAGTCAACAAACAAAATC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation