Incidental Mutation 'R6659:Prmt2'
| ID |
526773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt2
|
| Ensembl Gene |
ENSMUSG00000020230 |
| Gene Name |
protein arginine N-methyltransferase 2 |
| Synonyms |
Hrmt1l1 |
| MMRRC Submission |
044779-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6659 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
76043060-76073699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76053208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 269
(D269G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020452]
[ENSMUST00000099571]
[ENSMUST00000099572]
[ENSMUST00000128099]
[ENSMUST00000137857]
[ENSMUST00000217726]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020452
AA Change: D269G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020452
Gene: ENSMUSG00000020230
AA Change: D269G
| 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 |
possibly damaging
Transcript: ENSMUST00000099571
AA Change: D269G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097166
Gene: ENSMUSG00000020230
AA Change: D269G
| 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: D269G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097167
Gene: ENSMUSG00000020230
AA Change: D269G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220116
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,950,133 (GRCm39) |
D212G |
probably damaging |
Het |
| Add1 |
C |
T |
5: 34,770,639 (GRCm39) |
A250V |
possibly damaging |
Het |
| Atxn2 |
A |
G |
5: 121,916,027 (GRCm39) |
N411S |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,500,395 (GRCm39) |
T788A |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,817,537 (GRCm39) |
T721A |
probably damaging |
Het |
| Eif2b1 |
G |
A |
5: 124,717,171 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,905,243 (GRCm39) |
K1241E |
probably damaging |
Het |
| Engase |
T |
A |
11: 118,372,142 (GRCm39) |
Y145N |
probably benign |
Het |
| Fbrs |
C |
A |
7: 127,087,091 (GRCm39) |
A674D |
probably damaging |
Het |
| Gm4884 |
G |
A |
7: 40,694,046 (GRCm39) |
G672R |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Iars2 |
T |
A |
1: 185,020,273 (GRCm39) |
I954F |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,785,120 (GRCm39) |
I310F |
probably damaging |
Het |
| Kcnmb3 |
A |
G |
3: 32,526,594 (GRCm39) |
V199A |
possibly damaging |
Het |
| Kctd12 |
G |
T |
14: 103,219,622 (GRCm39) |
D85E |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,125,630 (GRCm39) |
R2929H |
probably damaging |
Het |
| Lgmn |
T |
A |
12: 102,368,951 (GRCm39) |
Y176F |
probably benign |
Het |
| Lipo3 |
A |
G |
19: 33,533,828 (GRCm39) |
F335L |
possibly damaging |
Het |
| Map2k3 |
T |
C |
11: 60,833,150 (GRCm39) |
S46P |
probably benign |
Het |
| Megf8 |
C |
A |
7: 25,058,159 (GRCm39) |
H2144Q |
probably benign |
Het |
| Neb |
A |
T |
2: 52,124,365 (GRCm39) |
W3694R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,861,684 (GRCm38) |
E580G |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,929,835 (GRCm39) |
P5930S |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,986,477 (GRCm39) |
F621L |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,509,348 (GRCm39) |
I732N |
probably damaging |
Het |
| Plpbp |
T |
A |
8: 27,542,307 (GRCm39) |
I214N |
possibly damaging |
Het |
| Ppp1r37 |
A |
G |
7: 19,266,048 (GRCm39) |
S573P |
probably benign |
Het |
| Prg4 |
C |
A |
1: 150,336,432 (GRCm39) |
C97F |
probably damaging |
Het |
| Ptbp3 |
T |
A |
4: 59,517,640 (GRCm39) |
L80F |
probably damaging |
Het |
| Reep1 |
T |
A |
6: 71,750,179 (GRCm39) |
F64I |
probably damaging |
Het |
| Srcap |
C |
A |
7: 127,141,563 (GRCm39) |
P1720Q |
probably damaging |
Het |
| Ssr1 |
A |
T |
13: 38,171,666 (GRCm39) |
F124I |
probably damaging |
Het |
| Tbx18 |
A |
G |
9: 87,589,864 (GRCm39) |
L358P |
probably damaging |
Het |
| Tfpt |
T |
C |
7: 3,623,835 (GRCm39) |
K71E |
probably benign |
Het |
| Tmem132a |
C |
A |
19: 10,837,685 (GRCm39) |
G542C |
probably damaging |
Het |
| Tmem135 |
C |
A |
7: 88,956,371 (GRCm39) |
L81F |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,956,372 (GRCm39) |
L81* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Washc5 |
A |
G |
15: 59,212,739 (GRCm39) |
|
probably null |
Het |
| Zfp24 |
T |
C |
18: 24,150,391 (GRCm39) |
E173G |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,410,155 (GRCm39) |
I1814T |
probably 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 |
|
|
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 |
|
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'- CCTGTGCTTCTCAGACACAC -3'
(R):5'- AAGGCTGAAACTCCAGGATG -3'
Sequencing Primer
(F):5'- CTGAGACCCTCATCAACTGC -3'
(R):5'- CTGAAACTCCAGGATGGGCTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation