Incidental Mutation 'R3605:Rpap2'
| ID |
269046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpap2
|
| Ensembl Gene |
ENSMUSG00000033773 |
| Gene Name |
RNA polymerase II associated protein 2 |
| Synonyms |
|
| MMRRC Submission |
040670-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3605 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
107745239-107809704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107768395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 411
(D411G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065422]
[ENSMUST00000112650]
[ENSMUST00000112651]
[ENSMUST00000112654]
[ENSMUST00000112655]
|
| AlphaFold |
Q8VC34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065422
AA Change: D411G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773
AA Change: D411G
| 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: D332G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108269
Gene: ENSMUSG00000033773
AA Change: D332G
| 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 damaging
Transcript: ENSMUST00000112651
AA Change: D334G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108270
Gene: ENSMUSG00000033773
AA Change: D334G
| 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: D411G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773
AA Change: D411G
| 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 damaging
Transcript: ENSMUST00000112655
AA Change: D411G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773
AA Change: D411G
| 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 |
0.1306 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
C |
T |
3: 96,589,497 (GRCm39) |
Q239* |
probably null |
Het |
| Arid4b |
T |
C |
13: 14,294,826 (GRCm39) |
V36A |
probably damaging |
Het |
| Art2b |
T |
A |
7: 101,229,152 (GRCm39) |
N249I |
probably benign |
Het |
| Bpifb1 |
T |
A |
2: 154,053,485 (GRCm39) |
N242K |
possibly damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,609,939 (GRCm39) |
T53A |
possibly damaging |
Het |
| Cracr2b |
C |
T |
7: 141,046,059 (GRCm39) |
P370S |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,077 (GRCm39) |
T1016S |
probably damaging |
Het |
| Esrrg |
A |
G |
1: 187,943,299 (GRCm39) |
H424R |
possibly damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,503,287 (GRCm39) |
N114Y |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,815,253 (GRCm39) |
V3662A |
probably benign |
Het |
| Gabra6 |
T |
A |
11: 42,205,777 (GRCm39) |
I359F |
probably benign |
Het |
| Gal |
A |
G |
19: 3,464,026 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm5814 |
G |
T |
17: 47,721,430 (GRCm39) |
R48L |
probably damaging |
Het |
| Hcn1 |
G |
A |
13: 118,111,788 (GRCm39) |
G584D |
unknown |
Het |
| Iqgap1 |
T |
C |
7: 80,373,537 (GRCm39) |
D1484G |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,760,493 (GRCm39) |
T485M |
probably damaging |
Het |
| Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
| Lctl |
T |
C |
9: 64,040,475 (GRCm39) |
Y473H |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,974,873 (GRCm39) |
C93Y |
unknown |
Het |
| Mnt |
T |
A |
11: 74,727,746 (GRCm39) |
S211T |
possibly damaging |
Het |
| Mtdh |
T |
A |
15: 34,114,258 (GRCm39) |
|
probably benign |
Het |
| Nxt1 |
T |
C |
2: 148,517,399 (GRCm39) |
W47R |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,873,168 (GRCm39) |
I70F |
probably benign |
Het |
| Or5k3 |
T |
C |
16: 58,969,846 (GRCm39) |
I211T |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,763,477 (GRCm39) |
D313G |
possibly damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,019,153 (GRCm39) |
F531I |
probably damaging |
Het |
| Sapcd1 |
A |
G |
17: 35,246,781 (GRCm39) |
F36L |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,066,542 (GRCm39) |
S3181T |
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 115,938,960 (GRCm39) |
T314I |
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,894,467 (GRCm39) |
C685* |
probably null |
Het |
| Tk2 |
A |
G |
8: 104,957,803 (GRCm39) |
V181A |
possibly damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,427 (GRCm39) |
T141A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,661,788 (GRCm39) |
|
probably null |
Het |
| Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
| Yif1b |
C |
T |
7: 28,937,835 (GRCm39) |
A7V |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,508 (GRCm39) |
L151* |
probably null |
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 |
|
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 |
|
|
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'- TGCCAAGTCAAATCCAGGTTCTG -3'
(R):5'- TTAAAACACAGCGCCCTCTG -3'
Sequencing Primer
(F):5'- CAGCCTCTGGTTTGGTACACG -3'
(R):5'- AGCGCCCTCTGTAGAACTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation