Incidental Mutation 'R3753:Prmt2'
| ID |
271322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt2
|
| Ensembl Gene |
ENSMUSG00000020230 |
| Gene Name |
protein arginine N-methyltransferase 2 |
| Synonyms |
Hrmt1l1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
76043060-76073699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76061137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 116
(D116E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020452]
[ENSMUST00000099571]
[ENSMUST00000099572]
[ENSMUST00000128099]
[ENSMUST00000137857]
[ENSMUST00000217726]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020452
AA Change: D116E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020452
Gene: ENSMUSG00000020230
AA Change: D116E
| 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: ENSMUST00000099571
AA Change: D116E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097166
Gene: ENSMUSG00000020230
AA Change: D116E
| 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: D116E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000097167
Gene: ENSMUSG00000020230
AA Change: D116E
| 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
AA Change: D116E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000137707
Gene: ENSMUSG00000020230
AA Change: D116E
| 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
AA Change: D116E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000137725
Gene: ENSMUSG00000020230
AA Change: D116E
| 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 |
unknown
Transcript: ENSMUST00000217726
AA Change: Q115K
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (49/50) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Acp7 |
T |
A |
7: 28,316,085 (GRCm39) |
Y167F |
probably damaging |
Het |
| Acsl1 |
A |
T |
8: 46,966,602 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
C |
10: 74,971,772 (GRCm39) |
V599A |
probably benign |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Cep152 |
A |
G |
2: 125,466,972 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
T |
G |
19: 31,060,695 (GRCm39) |
L77R |
probably damaging |
Het |
| Drd3 |
C |
T |
16: 43,637,466 (GRCm39) |
R254W |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,776,675 (GRCm39) |
P160S |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,478,516 (GRCm39) |
E2521K |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Flii |
T |
C |
11: 60,606,306 (GRCm39) |
D1128G |
probably benign |
Het |
| Gask1a |
A |
T |
9: 121,794,899 (GRCm39) |
D351V |
probably damaging |
Het |
| Gata3 |
T |
A |
2: 9,873,651 (GRCm39) |
H281L |
probably benign |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Nbn |
G |
A |
4: 15,964,269 (GRCm39) |
V115I |
probably damaging |
Het |
| Nfyc |
G |
T |
4: 120,622,527 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
A |
T |
6: 90,998,377 (GRCm39) |
|
probably null |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or2t48 |
C |
T |
11: 58,420,516 (GRCm39) |
A99T |
probably benign |
Het |
| Or8j3b |
C |
T |
2: 86,205,259 (GRCm39) |
V166I |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,640,278 (GRCm39) |
V508A |
probably benign |
Het |
| Prss51 |
T |
A |
14: 64,333,624 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,102,818 (GRCm39) |
V2659D |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,270,144 (GRCm39) |
R6H |
probably damaging |
Het |
| Ramac |
C |
T |
7: 81,417,395 (GRCm39) |
R32C |
probably damaging |
Het |
| Rdh12 |
C |
T |
12: 79,260,446 (GRCm39) |
R181* |
probably null |
Het |
| Rsf1 |
T |
A |
7: 97,311,359 (GRCm39) |
D696E |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,373 (GRCm39) |
R280C |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,427,502 (GRCm39) |
I611K |
probably damaging |
Het |
| Snph |
G |
A |
2: 151,435,374 (GRCm39) |
P449L |
probably benign |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,867,088 (GRCm39) |
W297R |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tcstv2c |
A |
T |
13: 120,616,167 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tox2 |
T |
A |
2: 163,156,243 (GRCm39) |
I138N |
probably damaging |
Het |
| Trim54 |
A |
C |
5: 31,291,488 (GRCm39) |
E203A |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,292,548 (GRCm39) |
T197S |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
| Wdr19 |
G |
A |
5: 65,382,069 (GRCm39) |
V430M |
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 |
|
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'- ACAAGCACACTCCTGTCAGG -3'
(R):5'- TGGTGACTGTCTTCCAGCTCAG -3'
Sequencing Primer
(F):5'- ACTCCTGTCAGGTGTCACACG -3'
(R):5'- CCAGCTCAGCTTTTTGAGAGGAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation