Incidental Mutation 'R4448:Rpap2'
| ID |
328828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpap2
|
| Ensembl Gene |
ENSMUSG00000033773 |
| Gene Name |
RNA polymerase II associated protein 2 |
| Synonyms |
|
| MMRRC Submission |
041709-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4448 (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: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
94% (49/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| A1cf |
A |
T |
19: 31,923,262 (GRCm39) |
T513S |
probably benign |
Het |
| Acaca |
A |
T |
11: 84,153,318 (GRCm39) |
I909F |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,266,569 (GRCm39) |
I980V |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Asb8 |
A |
G |
15: 98,039,211 (GRCm39) |
V63A |
possibly damaging |
Het |
| Atp6v1b2 |
T |
A |
8: 69,554,674 (GRCm39) |
D126E |
probably benign |
Het |
| BC048562 |
T |
A |
9: 108,315,723 (GRCm39) |
L43Q |
probably damaging |
Het |
| Ctcf |
A |
T |
8: 106,406,925 (GRCm39) |
|
probably benign |
Het |
| Efs |
A |
G |
14: 55,157,649 (GRCm39) |
S128P |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,005,676 (GRCm39) |
M722K |
probably damaging |
Het |
| Ezr |
T |
C |
17: 7,020,473 (GRCm39) |
I203V |
probably benign |
Het |
| F5 |
A |
T |
1: 164,026,468 (GRCm39) |
N1680I |
possibly damaging |
Het |
| Fcna |
A |
G |
2: 25,515,488 (GRCm39) |
F194L |
probably damaging |
Het |
| Fut7 |
A |
G |
2: 25,314,951 (GRCm39) |
T70A |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gpr4 |
G |
A |
7: 18,956,926 (GRCm39) |
A283T |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,770,574 (GRCm39) |
|
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,846,911 (GRCm39) |
K268E |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,777,318 (GRCm39) |
S605P |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,646,733 (GRCm39) |
F198L |
probably benign |
Het |
| Kmt2e |
T |
C |
5: 23,669,788 (GRCm39) |
F92L |
possibly damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,425,938 (GRCm39) |
I2396V |
possibly damaging |
Het |
| Nckap5 |
G |
A |
1: 125,953,463 (GRCm39) |
Q1030* |
probably null |
Het |
| Pag1 |
T |
C |
3: 9,764,526 (GRCm39) |
E209G |
probably benign |
Het |
| Pramel30 |
A |
C |
4: 144,059,255 (GRCm39) |
H322P |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,315,517 (GRCm39) |
|
probably benign |
Het |
| Rab38 |
T |
G |
7: 88,139,833 (GRCm39) |
D167E |
probably benign |
Het |
| Rbm26 |
A |
T |
14: 105,388,986 (GRCm39) |
F302I |
probably damaging |
Het |
| Sec23b |
A |
G |
2: 144,401,171 (GRCm39) |
N11D |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,388,524 (GRCm39) |
G250D |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,219,094 (GRCm39) |
V81D |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Sqstm1 |
A |
G |
11: 50,093,866 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
A |
G |
2: 179,577,764 (GRCm39) |
L519P |
possibly damaging |
Het |
| Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,566,282 (GRCm39) |
V1502I |
possibly damaging |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,463 (GRCm39) |
V250G |
probably benign |
Het |
| Vmn1r222 |
G |
A |
13: 23,416,830 (GRCm39) |
L128F |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
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 |
|
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'- AGCTTCCATGTACACACTGGG -3'
(R):5'- TGGTCCTTTGTCTGTCAAGTCAAC -3'
Sequencing Primer
(F):5'- TTCCATGTACACACTGGGAAGAC -3'
(R):5'- TGTCTGTCAAGTCAACAAACAAAATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation