Incidental Mutation 'R0885:Prmt2'
| ID |
81181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt2
|
| Ensembl Gene |
ENSMUSG00000020230 |
| Gene Name |
protein arginine N-methyltransferase 2 |
| Synonyms |
Hrmt1l1 |
| MMRRC Submission |
039052-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0885 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
76043060-76073699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76058399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 137
(Y137H)
|
| 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: Y137H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020452
Gene: ENSMUSG00000020230
AA Change: Y137H
| 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: Y137H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097166
Gene: ENSMUSG00000020230
AA Change: Y137H
| 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: Y137H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097167
Gene: ENSMUSG00000020230
AA Change: Y137H
| 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 damaging
Transcript: ENSMUST00000128099
AA Change: Y137H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137707
Gene: ENSMUSG00000020230
AA Change: Y137H
| 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 damaging
Transcript: ENSMUST00000137857
AA Change: Y137H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137725
Gene: ENSMUSG00000020230
AA Change: Y137H
| 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: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 92.9%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
T |
A |
7: 29,980,094 (GRCm39) |
Y46* |
probably null |
Het |
| Adam18 |
T |
C |
8: 25,141,802 (GRCm39) |
K256E |
probably damaging |
Het |
| Adam20 |
T |
A |
8: 41,249,595 (GRCm39) |
H568Q |
probably benign |
Het |
| Ambp |
A |
G |
4: 63,069,705 (GRCm39) |
L107P |
probably damaging |
Het |
| Art1 |
T |
C |
7: 101,756,541 (GRCm39) |
F244S |
probably damaging |
Het |
| Asxl2 |
C |
A |
12: 3,551,458 (GRCm39) |
L1067I |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,371,123 (GRCm39) |
T2242A |
probably benign |
Het |
| Atp2c1 |
C |
T |
9: 105,298,772 (GRCm39) |
|
probably null |
Het |
| Bptf |
A |
G |
11: 106,934,617 (GRCm39) |
Y2819H |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,724,668 (GRCm39) |
R1152H |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,866,432 (GRCm39) |
L868Q |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,116 (GRCm39) |
E178G |
unknown |
Het |
| Dclk1 |
G |
T |
3: 55,394,728 (GRCm39) |
R103S |
probably damaging |
Het |
| Des |
A |
G |
1: 75,337,374 (GRCm39) |
T105A |
probably damaging |
Het |
| Ebf3 |
T |
C |
7: 136,827,613 (GRCm39) |
T262A |
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,359,576 (GRCm39) |
V759A |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,246,539 (GRCm39) |
F1078I |
probably damaging |
Het |
| Il20 |
T |
C |
1: 130,838,518 (GRCm39) |
I60V |
probably benign |
Het |
| Kif3c |
A |
T |
12: 3,415,981 (GRCm39) |
M1L |
probably benign |
Het |
| Lhfpl5 |
A |
T |
17: 28,795,011 (GRCm39) |
I13F |
probably damaging |
Het |
| Lin28b |
C |
T |
10: 45,257,324 (GRCm39) |
G218E |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,312,697 (GRCm39) |
N2530K |
possibly damaging |
Het |
| Matn2 |
T |
A |
15: 34,316,751 (GRCm39) |
F31Y |
possibly damaging |
Het |
| Mcm6 |
T |
C |
1: 128,276,670 (GRCm39) |
N307D |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,054,491 (GRCm39) |
R332S |
probably benign |
Het |
| Mpdz |
T |
A |
4: 81,287,829 (GRCm39) |
T477S |
probably benign |
Het |
| Mrgprb3 |
C |
A |
7: 48,292,844 (GRCm39) |
G236W |
probably damaging |
Het |
| Mrpl47 |
T |
C |
3: 32,784,335 (GRCm39) |
D145G |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,149,503 (GRCm39) |
S150P |
probably damaging |
Het |
| Naca |
C |
A |
10: 127,876,048 (GRCm39) |
S360* |
probably null |
Het |
| Or2ak6 |
C |
T |
11: 58,592,913 (GRCm39) |
P129S |
possibly damaging |
Het |
| Phip |
C |
A |
9: 82,757,448 (GRCm39) |
A1575S |
probably benign |
Het |
| Pip4p1 |
T |
C |
14: 51,167,763 (GRCm39) |
E54G |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,864 (GRCm39) |
M266T |
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prag1 |
T |
C |
8: 36,570,421 (GRCm39) |
F335L |
probably benign |
Het |
| Psme3ip1 |
C |
A |
8: 95,302,407 (GRCm39) |
C208F |
probably damaging |
Het |
| Ptgds |
T |
C |
2: 25,357,357 (GRCm39) |
D184G |
possibly damaging |
Het |
| Ptpn5 |
T |
C |
7: 46,738,359 (GRCm39) |
Y241C |
probably benign |
Het |
| Pxdn |
G |
A |
12: 30,053,401 (GRCm39) |
V1193M |
probably benign |
Het |
| Raet1e |
T |
A |
10: 22,057,986 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,001,934 (GRCm39) |
D282G |
probably benign |
Het |
| Sis |
G |
A |
3: 72,819,282 (GRCm39) |
R1425* |
probably null |
Het |
| Slco2a1 |
G |
T |
9: 102,959,582 (GRCm39) |
M559I |
probably damaging |
Het |
| Spata4 |
C |
T |
8: 55,053,879 (GRCm39) |
A15V |
probably damaging |
Het |
| Spop |
T |
C |
11: 95,361,453 (GRCm39) |
S14P |
probably benign |
Het |
| Tcof1 |
A |
T |
18: 60,968,922 (GRCm39) |
D230E |
possibly damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,455,803 (GRCm39) |
L277* |
probably null |
Het |
| Ubxn10 |
A |
T |
4: 138,447,881 (GRCm39) |
V265E |
probably damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,239,848 (GRCm39) |
Y179F |
probably benign |
Het |
| Wdr37 |
A |
C |
13: 8,885,288 (GRCm39) |
|
probably null |
Het |
| Zfp593 |
A |
G |
4: 133,972,224 (GRCm39) |
V94A |
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 |
|
|
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 |
|
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'- TCCCTCCCTAGAGTGGAAAGCAAAC -3'
(R):5'- GAGTCCTTTCAGCCTTGGGAAGTG -3'
Sequencing Primer
(F):5'- TGGAAAGCAAACCACTGGC -3'
(R):5'- AGAGGTGATCCTGGACTGATCC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation