Incidental Mutation 'R3113:Prmt3'
| ID |
263874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt3
|
| Ensembl Gene |
ENSMUSG00000030505 |
| Gene Name |
protein arginine N-methyltransferase 3 |
| Synonyms |
2410018A17Rik, 2010005E20Rik, Hrmt1l3 |
| MMRRC Submission |
040586-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.428)
|
| Stock # |
R3113 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49428094-49508013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 49431760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 121
(P121Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032715]
[ENSMUST00000147401]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032715
AA Change: P121Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032715
Gene: ENSMUSG00000030505
AA Change: P121Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
46 |
69 |
2.41e1 |
SMART |
|
coiled coil region
|
156 |
191 |
N/A |
INTRINSIC |
|
Pfam:PRMT5
|
212 |
508 |
5.7e-8 |
PFAM |
|
Pfam:Methyltransf_9
|
220 |
392 |
9.3e-9 |
PFAM |
|
Pfam:MTS
|
242 |
326 |
5.4e-7 |
PFAM |
|
Pfam:PrmA
|
245 |
343 |
4.3e-13 |
PFAM |
|
Pfam:Methyltransf_31
|
250 |
407 |
8.8e-11 |
PFAM |
|
Pfam:Methyltransf_18
|
252 |
360 |
2.5e-11 |
PFAM |
|
Pfam:Methyltransf_11
|
257 |
356 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140656
|
| SMART Domains |
Protein: ENSMUSP00000124114
Gene: ENSMUSG00000030505
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
46 |
69 |
2.41e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146052
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147401
|
| SMART Domains |
Protein: ENSMUSP00000115155
Gene: ENSMUSG00000030505
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
PDB:1WIR|A
|
38 |
64 |
1e-13 |
PDB |
|
Blast:ZnF_C2H2
|
46 |
64 |
1e-5 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207216
|
| Meta Mutation Damage Score |
0.7936 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele exhibit a reduced embryonic size but survive birth and attain a normal size in adulthood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,100,372 (GRCm39) |
Y248* |
probably null |
Het |
| Acta2 |
T |
C |
19: 34,220,752 (GRCm39) |
I319V |
probably benign |
Het |
| Alox15 |
A |
T |
11: 70,235,703 (GRCm39) |
N585K |
probably benign |
Het |
| Ank |
T |
A |
15: 27,571,700 (GRCm39) |
I324N |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,574,813 (GRCm39) |
N99D |
probably damaging |
Het |
| As3mt |
T |
C |
19: 46,703,717 (GRCm39) |
|
probably benign |
Het |
| Atg4b |
C |
T |
1: 93,703,426 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
T |
7: 126,047,541 (GRCm39) |
V705D |
probably damaging |
Het |
| Bves |
T |
C |
10: 45,219,148 (GRCm39) |
V82A |
probably benign |
Het |
| Cad |
C |
A |
5: 31,231,481 (GRCm39) |
H7Q |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,253,740 (GRCm39) |
V387A |
probably benign |
Het |
| Csnk2a1 |
T |
A |
2: 152,105,134 (GRCm39) |
F181Y |
probably damaging |
Het |
| Cwc22 |
A |
T |
2: 77,754,823 (GRCm39) |
|
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,493,877 (GRCm39) |
S36P |
possibly damaging |
Het |
| Dnai2 |
T |
A |
11: 114,642,756 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
T |
19: 5,769,008 (GRCm39) |
M765K |
probably benign |
Het |
| Fitm2 |
T |
C |
2: 163,311,511 (GRCm39) |
Y234C |
probably damaging |
Het |
| Flrt3 |
T |
C |
2: 140,503,454 (GRCm39) |
E58G |
probably benign |
Het |
| Foxs1 |
A |
G |
2: 152,774,156 (GRCm39) |
V299A |
probably benign |
Het |
| Galnt12 |
A |
G |
4: 47,108,415 (GRCm39) |
N184S |
probably benign |
Het |
| Gata6 |
T |
C |
18: 11,063,124 (GRCm39) |
L464P |
probably damaging |
Het |
| Gm17332 |
T |
C |
11: 31,132,384 (GRCm39) |
T27A |
possibly damaging |
Het |
| Ifna11 |
A |
C |
4: 88,738,220 (GRCm39) |
M9L |
probably benign |
Het |
| Ldb3 |
T |
A |
14: 34,251,418 (GRCm39) |
*623L |
probably null |
Het |
| Lrrc27 |
A |
G |
7: 138,798,223 (GRCm39) |
D106G |
probably damaging |
Het |
| Ly6f |
A |
G |
15: 75,143,577 (GRCm39) |
N95D |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,844,512 (GRCm39) |
I1901V |
probably benign |
Het |
| Mboat2 |
A |
G |
12: 24,932,718 (GRCm39) |
Y70C |
probably damaging |
Het |
| Mmut |
G |
A |
17: 41,269,247 (GRCm39) |
G610D |
probably damaging |
Het |
| Mroh1 |
T |
A |
15: 76,292,736 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,399,871 (GRCm39) |
H448R |
unknown |
Het |
| Myh2 |
A |
G |
11: 67,076,012 (GRCm39) |
N733S |
probably damaging |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
| Ocrl |
A |
G |
X: 47,022,304 (GRCm39) |
E258G |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,299 (GRCm39) |
M118K |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,363,012 (GRCm39) |
R305S |
probably benign |
Het |
| Pak1 |
C |
A |
7: 97,515,321 (GRCm39) |
S115* |
probably null |
Het |
| Pilrb1 |
C |
T |
5: 137,853,195 (GRCm39) |
V203I |
possibly damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,742,256 (GRCm39) |
Y1016* |
probably null |
Het |
| Rhox6 |
T |
A |
X: 36,916,507 (GRCm39) |
I116N |
possibly damaging |
Het |
| Saxo2 |
A |
C |
7: 82,292,949 (GRCm39) |
F49L |
probably benign |
Het |
| Scn2a |
A |
C |
2: 65,579,129 (GRCm39) |
D1488A |
possibly damaging |
Het |
| Scn5a |
T |
A |
9: 119,314,738 (GRCm39) |
D1989V |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,506,624 (GRCm39) |
E905* |
probably null |
Het |
| Secisbp2l |
A |
T |
2: 125,592,206 (GRCm39) |
F672I |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,367,058 (GRCm39) |
G650E |
probably damaging |
Het |
| Smu1 |
A |
G |
4: 40,748,658 (GRCm39) |
F211L |
probably benign |
Het |
| Spef1l |
G |
T |
7: 139,555,878 (GRCm39) |
|
probably benign |
Het |
| Tab1 |
C |
T |
15: 80,032,461 (GRCm39) |
L23F |
probably benign |
Het |
| Thsd7b |
G |
A |
1: 129,977,599 (GRCm39) |
C1078Y |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,644,542 (GRCm39) |
Y13071N |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 102,899,870 (GRCm39) |
V354A |
probably benign |
Het |
| Usp31 |
A |
G |
7: 121,278,736 (GRCm39) |
S210P |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,126,221 (GRCm39) |
D198G |
probably benign |
Het |
| Wrap53 |
A |
G |
11: 69,454,144 (GRCm39) |
V298A |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,340,491 (GRCm39) |
I911V |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,918,752 (GRCm39) |
M78T |
unknown |
Het |
|
| Other mutations in Prmt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00930:Prmt3
|
APN |
7 |
49,441,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01444:Prmt3
|
APN |
7 |
49,430,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01688:Prmt3
|
APN |
7 |
49,498,480 (GRCm39) |
splice site |
probably null |
|
|
IGL02041:Prmt3
|
APN |
7 |
49,478,711 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02304:Prmt3
|
APN |
7 |
49,476,485 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02389:Prmt3
|
APN |
7 |
49,498,506 (GRCm39) |
nonsense |
probably null |
|
|
IGL02879:Prmt3
|
APN |
7 |
49,467,811 (GRCm39) |
missense |
probably benign |
0.39 |
|
K7894:Prmt3
|
UTSW |
7 |
49,476,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Prmt3
|
UTSW |
7 |
49,437,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Prmt3
|
UTSW |
7 |
49,441,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Prmt3
|
UTSW |
7 |
49,498,295 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1343:Prmt3
|
UTSW |
7 |
49,467,856 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1562:Prmt3
|
UTSW |
7 |
49,476,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1614:Prmt3
|
UTSW |
7 |
49,476,467 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1777:Prmt3
|
UTSW |
7 |
49,448,094 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4170:Prmt3
|
UTSW |
7 |
49,476,524 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4403:Prmt3
|
UTSW |
7 |
49,430,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4463:Prmt3
|
UTSW |
7 |
49,467,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Prmt3
|
UTSW |
7 |
49,476,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5144:Prmt3
|
UTSW |
7 |
49,435,883 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5364:Prmt3
|
UTSW |
7 |
49,498,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Prmt3
|
UTSW |
7 |
49,476,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Prmt3
|
UTSW |
7 |
49,430,082 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5820:Prmt3
|
UTSW |
7 |
49,498,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5992:Prmt3
|
UTSW |
7 |
49,478,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6931:Prmt3
|
UTSW |
7 |
49,478,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7117:Prmt3
|
UTSW |
7 |
49,467,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7889:Prmt3
|
UTSW |
7 |
49,437,049 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8298:Prmt3
|
UTSW |
7 |
49,507,186 (GRCm39) |
missense |
probably benign |
|
|
R8831:Prmt3
|
UTSW |
7 |
49,478,729 (GRCm39) |
missense |
probably null |
0.14 |
|
R9053:Prmt3
|
UTSW |
7 |
49,430,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9333:Prmt3
|
UTSW |
7 |
49,456,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0064:Prmt3
|
UTSW |
7 |
49,431,722 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAGGTGCAACCATTTTG -3'
(R):5'- ACACGGCCAACTTAAAGCTTG -3'
Sequencing Primer
(F):5'- ACAGGTGCAACCATTTTGTGCAG -3'
(R):5'- AGCTTGCAAACTGCTTACTTTCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation