Incidental Mutation 'R5851:Prmt2'
| ID |
454682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt2
|
| Ensembl Gene |
ENSMUSG00000020230 |
| Gene Name |
protein arginine N-methyltransferase 2 |
| Synonyms |
Hrmt1l1 |
| MMRRC Submission |
044067-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5851 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
76043060-76073699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76072574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 9
(C9F)
|
| 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: C9F
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020452
Gene: ENSMUSG00000020230
AA Change: C9F
| 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: C9F
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097166
Gene: ENSMUSG00000020230
AA Change: C9F
| 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: C9F
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000097167
Gene: ENSMUSG00000020230
AA Change: C9F
| 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 |
possibly damaging
Transcript: ENSMUST00000128099
AA Change: C9F
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137707
Gene: ENSMUSG00000020230
AA Change: C9F
| 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 |
possibly damaging
Transcript: ENSMUST00000137857
AA Change: C9F
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137725
Gene: ENSMUSG00000020230
AA Change: C9F
| 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
AA Change: C9F
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,332,322 (GRCm39) |
N1452D |
possibly damaging |
Het |
| Abhd15 |
T |
C |
11: 77,409,273 (GRCm39) |
L329P |
probably benign |
Het |
| Add3 |
T |
C |
19: 53,225,205 (GRCm39) |
S442P |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,484,980 (GRCm39) |
F228L |
probably damaging |
Het |
| Bptf |
A |
T |
11: 107,001,688 (GRCm39) |
Y475N |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,518,612 (GRCm39) |
N1257S |
probably null |
Het |
| Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
| Ceacam1 |
T |
C |
7: 25,174,025 (GRCm39) |
N210S |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,386,433 (GRCm39) |
I7N |
probably damaging |
Het |
| Clxn |
T |
A |
16: 14,738,300 (GRCm39) |
L155H |
probably damaging |
Het |
| Cmpk1 |
A |
G |
4: 114,844,167 (GRCm39) |
V55A |
possibly damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,144 (GRCm39) |
G305D |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,638,585 (GRCm39) |
S1266P |
possibly damaging |
Het |
| Edc4 |
T |
C |
8: 106,617,499 (GRCm39) |
L1077P |
probably damaging |
Het |
| Fam174a |
G |
A |
1: 95,252,868 (GRCm39) |
G157S |
probably damaging |
Het |
| Fubp3 |
T |
A |
2: 31,488,622 (GRCm39) |
D159E |
probably benign |
Het |
| Garem2 |
C |
T |
5: 30,319,288 (GRCm39) |
T250M |
probably damaging |
Het |
| H2-Eb1 |
C |
T |
17: 34,528,745 (GRCm39) |
P92L |
probably benign |
Het |
| Ifnl3 |
G |
T |
7: 28,222,936 (GRCm39) |
C69F |
probably damaging |
Het |
| Itga2b |
C |
A |
11: 102,348,427 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,335 (GRCm39) |
D386E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Loricrin |
G |
A |
3: 91,987,846 (GRCm39) |
A480V |
unknown |
Het |
| Msh3 |
G |
T |
13: 92,352,030 (GRCm39) |
Q1041K |
probably benign |
Het |
| Mtrex |
G |
A |
13: 113,045,486 (GRCm39) |
R349W |
probably damaging |
Het |
| Myo1e |
G |
A |
9: 70,291,086 (GRCm39) |
G959E |
probably benign |
Het |
| Nfat5 |
G |
T |
8: 108,074,359 (GRCm39) |
V338L |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,089,975 (GRCm39) |
H18R |
possibly damaging |
Het |
| Nup160 |
A |
G |
2: 90,537,382 (GRCm39) |
D752G |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,885,526 (GRCm39) |
L2489* |
probably null |
Het |
| Or4p22 |
A |
G |
2: 88,317,204 (GRCm39) |
I43V |
possibly damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,659 (GRCm39) |
E59G |
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,577,301 (GRCm39) |
S215P |
possibly damaging |
Het |
| Pate2 |
T |
A |
9: 35,581,797 (GRCm39) |
Y26* |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,545,811 (GRCm39) |
I296V |
probably benign |
Het |
| Pdzph1 |
T |
G |
17: 59,280,741 (GRCm39) |
T514P |
probably benign |
Het |
| Pnlip |
G |
A |
19: 58,662,224 (GRCm39) |
W123* |
probably null |
Het |
| Rbl1 |
T |
A |
2: 157,009,245 (GRCm39) |
K763N |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,372,562 (GRCm39) |
A28V |
probably damaging |
Het |
| Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
| Sdk1 |
G |
A |
5: 141,948,424 (GRCm39) |
V590I |
probably benign |
Het |
| Sele |
A |
G |
1: 163,877,143 (GRCm39) |
K140E |
probably benign |
Het |
| Sla |
G |
A |
15: 66,655,572 (GRCm39) |
T189I |
probably damaging |
Het |
| Slc46a2 |
A |
G |
4: 59,913,906 (GRCm39) |
V339A |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,742,797 (GRCm39) |
F432L |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,839,859 (GRCm39) |
F141S |
possibly damaging |
Het |
| Tas2r123 |
T |
C |
6: 132,824,271 (GRCm39) |
L56S |
probably damaging |
Het |
| Tektip1 |
A |
T |
10: 81,200,711 (GRCm39) |
|
probably null |
Het |
| Tmem245 |
T |
C |
4: 56,916,770 (GRCm39) |
I53V |
probably benign |
Het |
| Tor2a |
A |
T |
2: 32,651,619 (GRCm39) |
Q278L |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,667,572 (GRCm39) |
M15V |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,383,335 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
G |
A |
4: 41,206,268 (GRCm39) |
Q534* |
probably null |
Het |
| Yju2 |
C |
T |
17: 56,274,582 (GRCm39) |
S298F |
probably damaging |
Het |
| Zfp954 |
C |
A |
7: 7,118,624 (GRCm39) |
E307* |
probably null |
Het |
| Zscan21 |
A |
G |
5: 138,124,740 (GRCm39) |
K219E |
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 |
|
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'- TTCATGACAATACACAGCATGGG -3'
(R):5'- TGATAAAACGCCAATCCTGTTCC -3'
Sequencing Primer
(F):5'- TACACAGCATGGGACCTAATG -3'
(R):5'- CCTGTTCCATTCTTAACACATACAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation