Incidental Mutation 'R8318:Polr2b'
| ID |
641803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr2b
|
| Ensembl Gene |
ENSMUSG00000029250 |
| Gene Name |
polymerase (RNA) II (DNA directed) polypeptide B |
| Synonyms |
RPB2 |
| MMRRC Submission |
067855-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8318 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
77458331-77497175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77483576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 684
(E684G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031167]
|
| AlphaFold |
Q8CFI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031167
AA Change: E684G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250
AA Change: E684G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:RNA_pol_Rpb2_1
|
38 |
442 |
2.5e-69 |
PFAM |
|
Pfam:RNA_pol_Rpb2_2
|
201 |
394 |
3.7e-57 |
PFAM |
|
Pfam:RNA_pol_Rpb2_3
|
468 |
532 |
6.1e-25 |
PFAM |
|
Pfam:RNA_pol_Rpb2_4
|
567 |
629 |
7.4e-27 |
PFAM |
|
Pfam:RNA_pol_Rpb2_5
|
653 |
700 |
1.6e-22 |
PFAM |
|
Pfam:RNA_pol_Rpb2_6
|
707 |
1080 |
4.5e-129 |
PFAM |
|
Pfam:RNA_pol_Rpb2_7
|
1082 |
1174 |
3.3e-35 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
T |
C |
8: 23,605,567 (GRCm39) |
V1145A |
probably damaging |
Het |
| Ankrd35 |
G |
A |
3: 96,592,038 (GRCm39) |
V775M |
probably damaging |
Het |
| Ankrd63 |
C |
T |
2: 118,533,721 (GRCm39) |
V67M |
unknown |
Het |
| Arhgef5 |
T |
A |
6: 43,252,933 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
A |
T |
4: 140,734,335 (GRCm39) |
Q1152H |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,220,442 (GRCm39) |
L1094P |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,787,442 (GRCm39) |
A612T |
unknown |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,785 (GRCm39) |
E140G |
probably damaging |
Het |
| Ddx18 |
G |
T |
1: 121,493,816 (GRCm39) |
A56D |
probably benign |
Het |
| Dixdc1 |
T |
C |
9: 50,595,709 (GRCm39) |
|
probably null |
Het |
| Dpys |
G |
A |
15: 39,648,061 (GRCm39) |
T498I |
probably benign |
Het |
| Ear6 |
A |
G |
14: 52,091,722 (GRCm39) |
I90V |
probably benign |
Het |
| Egr1 |
T |
C |
18: 34,996,663 (GRCm39) |
S482P |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,087,980 (GRCm39) |
R393Q |
probably benign |
Het |
| Enpep |
A |
G |
3: 129,063,986 (GRCm39) |
I927T |
probably damaging |
Het |
| Ermard |
C |
T |
17: 15,242,334 (GRCm39) |
T406I |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,793,341 (GRCm39) |
S971P |
probably damaging |
Het |
| Fan1 |
C |
A |
7: 63,999,803 (GRCm39) |
V861F |
probably damaging |
Het |
| Fbp1 |
A |
G |
13: 63,012,825 (GRCm39) |
F328L |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,964,477 (GRCm39) |
F237I |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,195,502 (GRCm39) |
S401P |
unknown |
Het |
| Gabbr1 |
G |
A |
17: 37,373,435 (GRCm39) |
E444K |
probably benign |
Het |
| Htr3b |
C |
A |
9: 48,876,177 (GRCm39) |
|
probably benign |
Het |
| Ighv1-49 |
A |
G |
12: 115,019,051 (GRCm39) |
F48S |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,643,154 (GRCm39) |
L371P |
probably damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,189 (GRCm39) |
T143A |
probably damaging |
Het |
| Klk1b4 |
T |
G |
7: 43,860,335 (GRCm39) |
S150A |
possibly damaging |
Het |
| Krt6a |
A |
T |
15: 101,602,682 (GRCm39) |
M1K |
probably null |
Het |
| Lama2 |
G |
A |
10: 26,860,334 (GRCm39) |
S3051L |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,533,940 (GRCm39) |
M38T |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,735,897 (GRCm39) |
|
probably null |
Het |
| Mindy1 |
A |
G |
3: 95,199,936 (GRCm39) |
S246G |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,714,215 (GRCm39) |
T770A |
probably benign |
Het |
| Or13d1 |
T |
C |
4: 52,971,104 (GRCm39) |
V161A |
probably benign |
Het |
| Or4a81 |
C |
T |
2: 89,619,321 (GRCm39) |
C125Y |
possibly damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,242 (GRCm39) |
I205F |
probably benign |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,999 (GRCm39) |
S265T |
possibly damaging |
Het |
| Pcna |
T |
C |
2: 132,093,348 (GRCm39) |
Y133C |
probably damaging |
Het |
| Pon2 |
T |
C |
6: 5,265,425 (GRCm39) |
I321V |
probably benign |
Het |
| Prss54 |
T |
A |
8: 96,291,094 (GRCm39) |
M169L |
probably damaging |
Het |
| Rps3 |
T |
A |
7: 99,132,938 (GRCm39) |
|
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,962,748 (GRCm39) |
D312G |
probably damaging |
Het |
| Serpina10 |
T |
A |
12: 103,583,107 (GRCm39) |
T446S |
possibly damaging |
Het |
| Slc2a5 |
A |
G |
4: 150,224,115 (GRCm39) |
D241G |
possibly damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,372,435 (GRCm39) |
|
probably null |
Het |
| Tgfbrap1 |
G |
C |
1: 43,095,829 (GRCm39) |
C536W |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,879,063 (GRCm39) |
G9S |
unknown |
Het |
| Zfp626 |
C |
A |
7: 27,517,670 (GRCm39) |
T217K |
possibly damaging |
Het |
|
| Other mutations in Polr2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02026:Polr2b
|
APN |
5 |
77,480,099 (GRCm39) |
missense |
probably benign |
|
|
IGL02069:Polr2b
|
APN |
5 |
77,491,044 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03218:Polr2b
|
APN |
5 |
77,463,764 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0007:Polr2b
|
UTSW |
5 |
77,488,284 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0056:Polr2b
|
UTSW |
5 |
77,482,382 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0076:Polr2b
|
UTSW |
5 |
77,474,408 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0099:Polr2b
|
UTSW |
5 |
77,468,797 (GRCm39) |
splice site |
probably benign |
|
|
R0114:Polr2b
|
UTSW |
5 |
77,491,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Polr2b
|
UTSW |
5 |
77,467,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Polr2b
|
UTSW |
5 |
77,479,929 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0607:Polr2b
|
UTSW |
5 |
77,461,006 (GRCm39) |
unclassified |
probably benign |
|
|
R1233:Polr2b
|
UTSW |
5 |
77,482,412 (GRCm39) |
missense |
probably benign |
|
|
R1597:Polr2b
|
UTSW |
5 |
77,473,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Polr2b
|
UTSW |
5 |
77,474,470 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1696:Polr2b
|
UTSW |
5 |
77,490,495 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1704:Polr2b
|
UTSW |
5 |
77,490,407 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1871:Polr2b
|
UTSW |
5 |
77,474,374 (GRCm39) |
splice site |
probably benign |
|
|
R2114:Polr2b
|
UTSW |
5 |
77,468,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2137:Polr2b
|
UTSW |
5 |
77,468,193 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2305:Polr2b
|
UTSW |
5 |
77,468,284 (GRCm39) |
splice site |
probably benign |
|
|
R3921:Polr2b
|
UTSW |
5 |
77,474,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4027:Polr2b
|
UTSW |
5 |
77,496,252 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4031:Polr2b
|
UTSW |
5 |
77,496,252 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4526:Polr2b
|
UTSW |
5 |
77,474,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Polr2b
|
UTSW |
5 |
77,479,886 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4827:Polr2b
|
UTSW |
5 |
77,490,398 (GRCm39) |
missense |
probably benign |
|
|
R5244:Polr2b
|
UTSW |
5 |
77,490,847 (GRCm39) |
intron |
probably benign |
|
|
R5360:Polr2b
|
UTSW |
5 |
77,496,993 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5628:Polr2b
|
UTSW |
5 |
77,461,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5928:Polr2b
|
UTSW |
5 |
77,493,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6009:Polr2b
|
UTSW |
5 |
77,468,099 (GRCm39) |
missense |
probably benign |
|
|
R6179:Polr2b
|
UTSW |
5 |
77,468,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Polr2b
|
UTSW |
5 |
77,496,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7209:Polr2b
|
UTSW |
5 |
77,491,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Polr2b
|
UTSW |
5 |
77,468,868 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7328:Polr2b
|
UTSW |
5 |
77,463,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7345:Polr2b
|
UTSW |
5 |
77,496,966 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7471:Polr2b
|
UTSW |
5 |
77,468,913 (GRCm39) |
nonsense |
probably null |
|
|
R7581:Polr2b
|
UTSW |
5 |
77,474,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:Polr2b
|
UTSW |
5 |
77,468,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Polr2b
|
UTSW |
5 |
77,488,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7700:Polr2b
|
UTSW |
5 |
77,488,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7956:Polr2b
|
UTSW |
5 |
77,468,092 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7995:Polr2b
|
UTSW |
5 |
77,473,614 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8015:Polr2b
|
UTSW |
5 |
77,484,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Polr2b
|
UTSW |
5 |
77,468,062 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8686:Polr2b
|
UTSW |
5 |
77,483,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8850:Polr2b
|
UTSW |
5 |
77,463,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9253:Polr2b
|
UTSW |
5 |
77,493,224 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9275:Polr2b
|
UTSW |
5 |
77,471,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Polr2b
|
UTSW |
5 |
77,471,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0054:Polr2b
|
UTSW |
5 |
77,496,152 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1088:Polr2b
|
UTSW |
5 |
77,493,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Polr2b
|
UTSW |
5 |
77,490,569 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Polr2b
|
UTSW |
5 |
77,479,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTTTCACATTAACAGTCATGTC -3'
(R):5'- AAACAGCTGAGTCTGTAGTGC -3'
Sequencing Primer
(F):5'- AACAGTCATGTCTCTGAATTCTTTC -3'
(R):5'- CCCTGACAAGTCTTCATACTAATTTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation