Incidental Mutation 'R2408:Prmt2'
| ID |
248102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt2
|
| Ensembl Gene |
ENSMUSG00000020230 |
| Gene Name |
protein arginine N-methyltransferase 2 |
| Synonyms |
Hrmt1l1 |
| MMRRC Submission |
040374-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2408 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
76043060-76073699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76044301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 417
(M417K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020452]
[ENSMUST00000099571]
[ENSMUST00000099572]
[ENSMUST00000128099]
[ENSMUST00000137857]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020452
AA Change: M417K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020452
Gene: ENSMUSG00000020230
AA Change: M417K
| 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: M417K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097166
Gene: ENSMUSG00000020230
AA Change: M417K
| 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 benign
Transcript: ENSMUST00000099572
AA Change: M447K
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097167
Gene: ENSMUSG00000020230
AA Change: M447K
| 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 |
noncoding transcript
Transcript: ENSMUST00000102114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128048
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000144670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220116
|
| Meta Mutation Damage Score |
0.6945 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (33/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,730,121 (GRCm39) |
L103V |
probably null |
Het |
| BC051076 |
C |
T |
5: 88,111,684 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc191 |
A |
T |
16: 43,751,561 (GRCm39) |
Q239L |
probably benign |
Het |
| Dennd4b |
G |
T |
3: 90,178,882 (GRCm39) |
G538* |
probably null |
Het |
| Dipk1a |
T |
C |
5: 108,062,291 (GRCm39) |
D78G |
possibly damaging |
Het |
| Dusp7 |
C |
T |
9: 106,246,361 (GRCm39) |
A122V |
probably benign |
Het |
| Exd2 |
T |
G |
12: 80,531,015 (GRCm39) |
|
probably benign |
Het |
| Gm10782 |
C |
A |
13: 56,510,944 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
T |
A |
12: 108,284,806 (GRCm39) |
D386E |
probably benign |
Het |
| Hnf1a |
C |
T |
5: 115,098,070 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
A |
G |
1: 173,583,198 (GRCm39) |
F340S |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Med26 |
T |
C |
8: 73,249,476 (GRCm39) |
D541G |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,663,456 (GRCm39) |
L1218Q |
probably damaging |
Het |
| Msh5 |
T |
C |
17: 35,264,095 (GRCm39) |
D136G |
probably damaging |
Het |
| Nbl1 |
C |
T |
4: 138,810,843 (GRCm39) |
C117Y |
probably damaging |
Het |
| Niban2 |
A |
G |
2: 32,813,482 (GRCm39) |
Y565C |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,132,710 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Rptor |
A |
G |
11: 119,748,277 (GRCm39) |
E3G |
probably damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,152,902 (GRCm39) |
S60P |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,832,575 (GRCm39) |
Y197C |
probably damaging |
Het |
| Tmem222 |
T |
C |
4: 132,998,335 (GRCm39) |
H73R |
possibly damaging |
Het |
| Trmt1l |
G |
A |
1: 151,315,267 (GRCm39) |
G151D |
possibly damaging |
Het |
| Ttc16 |
A |
G |
2: 32,658,020 (GRCm39) |
F409L |
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,916,439 (GRCm39) |
Q925R |
probably null |
Het |
| Ucn3 |
T |
G |
13: 3,991,413 (GRCm39) |
I80L |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,372,517 (GRCm39) |
S302P |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 7,229,410 (GRCm39) |
|
probably benign |
Het |
| Zmynd19 |
A |
G |
2: 24,848,937 (GRCm39) |
E144G |
possibly damaging |
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 |
|
|
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 |
|
R9490:Prmt2
|
UTSW |
10 |
76,053,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AAATGTAGCAGCGGACATGC -3'
(R):5'- ATGAGACTTAAGCTCCGTGTCCC -3'
Sequencing Primer
(F):5'- GGACATGCATCTGAAACCGTTC -3'
(R):5'- TCAGTGCAGAGGACCTCGTTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation