Incidental Mutation 'R9490:Prmt2'
| ID |
716897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt2
|
| Ensembl Gene |
ENSMUSG00000020230 |
| Gene Name |
protein arginine N-methyltransferase 2 |
| Synonyms |
Hrmt1l1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
76043060-76073699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76053227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 263
(P263S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020452]
[ENSMUST00000099571]
[ENSMUST00000099572]
[ENSMUST00000128099]
[ENSMUST00000137857]
[ENSMUST00000217726]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020452
AA Change: P263S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020452
Gene: ENSMUSG00000020230
AA Change: P263S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
SH3
|
45 |
100 |
4.22e-15 |
SMART |
|
Pfam:PrmA
|
122 |
253 |
2.5e-8 |
PFAM |
|
Pfam:PRMT5
|
123 |
427 |
2.4e-13 |
PFAM |
|
Pfam:Met_10
|
127 |
244 |
5.1e-8 |
PFAM |
|
Pfam:MTS
|
134 |
223 |
5.7e-11 |
PFAM |
|
Pfam:Methyltransf_31
|
147 |
294 |
1.5e-8 |
PFAM |
|
Pfam:Methyltransf_26
|
150 |
224 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099571
AA Change: P263S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097166
Gene: ENSMUSG00000020230
AA Change: P263S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
SH3
|
45 |
100 |
4.22e-15 |
SMART |
|
Pfam:PrmA
|
122 |
253 |
2.5e-8 |
PFAM |
|
Pfam:PRMT5
|
123 |
427 |
2.4e-13 |
PFAM |
|
Pfam:Met_10
|
127 |
244 |
5.1e-8 |
PFAM |
|
Pfam:MTS
|
134 |
223 |
5.7e-11 |
PFAM |
|
Pfam:Methyltransf_31
|
147 |
294 |
1.5e-8 |
PFAM |
|
Pfam:Methyltransf_26
|
150 |
224 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099572
AA Change: P263S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097167
Gene: ENSMUSG00000020230
AA Change: P263S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
SH3
|
45 |
100 |
4.22e-15 |
SMART |
|
Pfam:PrmA
|
124 |
253 |
3.1e-8 |
PFAM |
|
Pfam:PRMT5
|
124 |
451 |
1.2e-11 |
PFAM |
|
Pfam:MTS
|
137 |
223 |
3.3e-10 |
PFAM |
|
Pfam:Methyltransf_31
|
147 |
294 |
1.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128099
|
| SMART Domains |
Protein: ENSMUSP00000137707
Gene: ENSMUSG00000020230
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
SH3
|
45 |
100 |
4.22e-15 |
SMART |
|
Pfam:PrmA
|
120 |
253 |
1.3e-9 |
PFAM |
|
Pfam:Met_10
|
122 |
235 |
3.8e-8 |
PFAM |
|
Pfam:TehB
|
122 |
235 |
6.9e-8 |
PFAM |
|
Pfam:MTS
|
133 |
223 |
2e-11 |
PFAM |
|
Pfam:Methyltransf_31
|
147 |
243 |
9.3e-9 |
PFAM |
|
Pfam:Methyltransf_26
|
150 |
224 |
4.6e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
154 |
238 |
3.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137857
|
| SMART Domains |
Protein: ENSMUSP00000137725
Gene: ENSMUSG00000020230
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
SH3
|
45 |
100 |
4.22e-15 |
SMART |
|
Pfam:PrmA
|
120 |
253 |
1.5e-9 |
PFAM |
|
Pfam:Met_10
|
129 |
235 |
4.2e-7 |
PFAM |
|
Pfam:MTS
|
137 |
223 |
1.1e-10 |
PFAM |
|
Pfam:Methyltransf_31
|
147 |
243 |
9.2e-9 |
PFAM |
|
Pfam:Methyltransf_11
|
154 |
237 |
1.7e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217726
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display a hyperplastic response to vascular injury while mutant mouse embryonic fibroblasts show an earlier S phase entry following release of serum starvation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,834,601 (GRCm39) |
D167G |
probably benign |
Het |
| Arhgef37 |
G |
T |
18: 61,641,907 (GRCm39) |
P154Q |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,312,486 (GRCm39) |
S320C |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,505,901 (GRCm39) |
T21K |
unknown |
Het |
| Ctcfl |
A |
T |
2: 172,960,548 (GRCm39) |
Y12N |
probably benign |
Het |
| Cyria |
A |
G |
12: 12,390,727 (GRCm39) |
E13G |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,871,092 (GRCm39) |
Y443H |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,589,582 (GRCm39) |
T492S |
possibly damaging |
Het |
| Edil3 |
G |
A |
13: 89,347,591 (GRCm39) |
C382Y |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,555,416 (GRCm39) |
K1142E |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,723,815 (GRCm39) |
T275S |
possibly damaging |
Het |
| Fstl5 |
T |
C |
3: 76,615,060 (GRCm39) |
V707A |
possibly damaging |
Het |
| Gm7298 |
G |
A |
6: 121,751,083 (GRCm39) |
R720H |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,311,518 (GRCm39) |
T1253S |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,788,203 (GRCm39) |
N14S |
probably benign |
Het |
| Ldhc |
G |
A |
7: 46,519,184 (GRCm39) |
V136I |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,008,501 (GRCm39) |
S134G |
probably benign |
Het |
| Map3k5 |
T |
C |
10: 20,007,797 (GRCm39) |
S1209P |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,986,764 (GRCm39) |
K101E |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,568,149 (GRCm39) |
R1457* |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,425,497 (GRCm39) |
V4714A |
probably benign |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,240 (GRCm39) |
V345A |
probably benign |
Het |
| Phkb |
T |
C |
8: 86,628,525 (GRCm39) |
F170S |
probably damaging |
Het |
| Pip5kl1 |
C |
T |
2: 32,466,667 (GRCm39) |
P12L |
probably benign |
Het |
| Pramel14 |
T |
A |
4: 143,719,606 (GRCm39) |
N253I |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,354,065 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
C |
T |
19: 4,247,547 (GRCm39) |
G200R |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,350 (GRCm39) |
T1354A |
probably benign |
Het |
| Rere |
A |
G |
4: 150,516,040 (GRCm39) |
D111G |
probably benign |
Het |
| Rnase2b |
A |
T |
14: 51,400,284 (GRCm39) |
T122S |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc26a2 |
C |
G |
18: 61,331,881 (GRCm39) |
V517L |
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,961,641 (GRCm39) |
K195R |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,928,867 (GRCm39) |
D343V |
probably damaging |
Het |
| Tmf1 |
T |
C |
6: 97,137,227 (GRCm39) |
T910A |
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,245,360 (GRCm39) |
V1457A |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,078,716 (GRCm39) |
V862A |
probably benign |
Het |
|
| Other mutations in Prmt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01642:Prmt2
|
APN |
10 |
76,058,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01663:Prmt2
|
APN |
10 |
76,053,143 (GRCm39) |
splice site |
probably null |
|
|
IGL02015:Prmt2
|
APN |
10 |
76,062,089 (GRCm39) |
nonsense |
probably null |
|
|
IGL03094:Prmt2
|
APN |
10 |
76,046,224 (GRCm39) |
splice site |
probably benign |
|
|
R0352:Prmt2
|
UTSW |
10 |
76,044,337 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0617:Prmt2
|
UTSW |
10 |
76,044,517 (GRCm39) |
intron |
probably benign |
|
|
R0831:Prmt2
|
UTSW |
10 |
76,043,641 (GRCm39) |
unclassified |
probably benign |
|
|
R0885:Prmt2
|
UTSW |
10 |
76,058,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:Prmt2
|
UTSW |
10 |
76,058,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2022:Prmt2
|
UTSW |
10 |
76,061,292 (GRCm39) |
nonsense |
probably null |
|
|
R2312:Prmt2
|
UTSW |
10 |
76,062,089 (GRCm39) |
nonsense |
probably null |
|
|
R2401:Prmt2
|
UTSW |
10 |
76,061,249 (GRCm39) |
nonsense |
probably null |
|
|
R2408:Prmt2
|
UTSW |
10 |
76,044,301 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3753:Prmt2
|
UTSW |
10 |
76,061,137 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4707:Prmt2
|
UTSW |
10 |
76,062,055 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4785:Prmt2
|
UTSW |
10 |
76,062,055 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4937:Prmt2
|
UTSW |
10 |
76,056,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Prmt2
|
UTSW |
10 |
76,058,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Prmt2
|
UTSW |
10 |
76,058,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Prmt2
|
UTSW |
10 |
76,058,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5851:Prmt2
|
UTSW |
10 |
76,072,574 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6084:Prmt2
|
UTSW |
10 |
76,046,278 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6120:Prmt2
|
UTSW |
10 |
76,045,280 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6239:Prmt2
|
UTSW |
10 |
76,058,425 (GRCm39) |
nonsense |
probably null |
|
|
R6317:Prmt2
|
UTSW |
10 |
76,058,351 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6659:Prmt2
|
UTSW |
10 |
76,053,208 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7174:Prmt2
|
UTSW |
10 |
76,061,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7421:Prmt2
|
UTSW |
10 |
76,056,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7485:Prmt2
|
UTSW |
10 |
76,056,838 (GRCm39) |
nonsense |
probably null |
|
|
R8326:Prmt2
|
UTSW |
10 |
76,053,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9620:Prmt2
|
UTSW |
10 |
76,061,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Prmt2
|
UTSW |
10 |
76,061,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGTGCTTCTCAGACACAC -3'
(R):5'- AGGCTGAAACTCCAGGATGG -3'
Sequencing Primer
(F):5'- TGAGACCCTCATCAACTGCC -3'
(R):5'- AACTCCAGGATGGGCTGTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation