Incidental Mutation 'R5736:Prmt5'
| ID |
451716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt5
|
| Ensembl Gene |
ENSMUSG00000023110 |
| Gene Name |
protein arginine N-methyltransferase 5 |
| Synonyms |
Jbp1, Jak-binding protein 1, Skb1 |
| MMRRC Submission |
043194-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5736 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
54744639-54754927 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 54752297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 166
(D166E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023873]
[ENSMUST00000132227]
[ENSMUST00000147214]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023873
AA Change: D166E
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023873
Gene: ENSMUSG00000023110
AA Change: D166E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:PRMT5
|
181 |
619 |
4.5e-184 |
PFAM |
|
Pfam:SAMBD
|
184 |
465 |
3e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132227
|
| SMART Domains |
Protein: ENSMUSP00000138549
Gene: ENSMUSG00000023110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
18 |
N/A |
INTRINSIC |
|
PDB:4GQB|A
|
19 |
40 |
5e-7 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138367
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139964
|
| SMART Domains |
Protein: ENSMUSP00000121502
Gene: ENSMUSG00000023110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRMT5
|
1 |
62 |
1.3e-10 |
PFAM |
|
Pfam:SAMBD
|
1 |
203 |
4.6e-68 |
PFAM |
|
Pfam:PRMT5
|
52 |
203 |
1.2e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147214
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation and the assembly of small nuclear ribonucleoproteins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before somite formation with failure of inner cell mass proliferation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted, other(4) Gene trapped(5)
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630095N17Rik |
G |
A |
1: 75,197,211 (GRCm39) |
|
probably benign |
Het |
| Akt1 |
G |
A |
12: 112,623,284 (GRCm39) |
R367C |
probably benign |
Het |
| Arl8a |
T |
A |
1: 135,082,458 (GRCm39) |
S150T |
probably benign |
Het |
| B020004C17Rik |
A |
T |
14: 57,254,823 (GRCm39) |
T216S |
possibly damaging |
Het |
| Casz1 |
G |
A |
4: 149,013,867 (GRCm39) |
V144I |
probably benign |
Het |
| Cd274 |
G |
T |
19: 29,359,940 (GRCm39) |
L248F |
probably benign |
Het |
| Crisp4 |
T |
C |
1: 18,185,939 (GRCm39) |
T266A |
probably benign |
Het |
| Dlx6 |
A |
T |
6: 6,863,660 (GRCm39) |
H94L |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,685,615 (GRCm39) |
N109S |
possibly damaging |
Het |
| Grik2 |
T |
C |
10: 49,280,506 (GRCm39) |
E128G |
probably damaging |
Het |
| Hs3st4 |
G |
A |
7: 123,996,662 (GRCm39) |
E443K |
probably damaging |
Het |
| Ihh |
T |
C |
1: 74,985,286 (GRCm39) |
T400A |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,352,664 (GRCm39) |
C806* |
probably null |
Het |
| Lrrn1 |
T |
C |
6: 107,544,345 (GRCm39) |
S48P |
probably damaging |
Het |
| Lsm11 |
T |
C |
11: 45,835,594 (GRCm39) |
N49S |
possibly damaging |
Het |
| Map3k11 |
C |
T |
19: 5,746,739 (GRCm39) |
A507V |
probably damaging |
Het |
| Mill2 |
A |
T |
7: 18,592,174 (GRCm39) |
Q265L |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,268,416 (GRCm39) |
T368A |
probably benign |
Het |
| Or4s2b |
T |
C |
2: 88,508,985 (GRCm39) |
M255T |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Peg10 |
T |
A |
6: 4,754,423 (GRCm39) |
L68Q |
probably benign |
Het |
| Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
| Prkag2 |
A |
T |
5: 25,083,720 (GRCm39) |
Y88N |
probably damaging |
Het |
| Robo4 |
A |
T |
9: 37,316,093 (GRCm39) |
T366S |
possibly damaging |
Het |
| Samd3 |
T |
C |
10: 26,146,070 (GRCm39) |
I365T |
probably damaging |
Het |
| Sdf2l1 |
A |
T |
16: 16,949,571 (GRCm39) |
C92S |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,016,753 (GRCm39) |
F327L |
probably damaging |
Het |
| Slc17a6 |
G |
A |
7: 51,294,841 (GRCm39) |
V183I |
possibly damaging |
Het |
| Slc6a11 |
T |
C |
6: 114,139,123 (GRCm39) |
S244P |
probably damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,609,102 (GRCm39) |
D769G |
probably benign |
Het |
| Slc7a14 |
A |
T |
3: 31,278,059 (GRCm39) |
D515E |
probably benign |
Het |
| Slco2a1 |
A |
T |
9: 102,945,029 (GRCm39) |
S135C |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,715,162 (GRCm39) |
D801E |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,041,821 (GRCm39) |
|
probably null |
Het |
| Tmem71 |
C |
T |
15: 66,404,496 (GRCm39) |
V264I |
probably benign |
Het |
| Zfp563 |
G |
T |
17: 33,323,960 (GRCm39) |
R185L |
possibly damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,973 (GRCm39) |
P129S |
probably benign |
Het |
|
| Other mutations in Prmt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01309:Prmt5
|
APN |
14 |
54,747,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01586:Prmt5
|
APN |
14 |
54,747,408 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02063:Prmt5
|
APN |
14 |
54,748,477 (GRCm39) |
nonsense |
probably null |
|
|
IGL02249:Prmt5
|
APN |
14 |
54,747,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03024:Prmt5
|
APN |
14 |
54,754,055 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
skipper
|
UTSW |
14 |
54,747,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Prmt5
|
UTSW |
14 |
54,748,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0485:Prmt5
|
UTSW |
14 |
54,748,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0664:Prmt5
|
UTSW |
14 |
54,745,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1473:Prmt5
|
UTSW |
14 |
54,746,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Prmt5
|
UTSW |
14 |
54,745,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2159:Prmt5
|
UTSW |
14 |
54,752,795 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4728:Prmt5
|
UTSW |
14 |
54,745,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4843:Prmt5
|
UTSW |
14 |
54,753,582 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5261:Prmt5
|
UTSW |
14 |
54,745,373 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5277:Prmt5
|
UTSW |
14 |
54,747,399 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5892:Prmt5
|
UTSW |
14 |
54,747,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5945:Prmt5
|
UTSW |
14 |
54,752,344 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7021:Prmt5
|
UTSW |
14 |
54,752,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7091:Prmt5
|
UTSW |
14 |
54,748,799 (GRCm39) |
splice site |
probably null |
|
|
R7172:Prmt5
|
UTSW |
14 |
54,752,343 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7574:Prmt5
|
UTSW |
14 |
54,745,347 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9019:Prmt5
|
UTSW |
14 |
54,753,564 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9234:Prmt5
|
UTSW |
14 |
54,748,674 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9302:Prmt5
|
UTSW |
14 |
54,749,583 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTTATGCCACCTGCCC -3'
(R):5'- AGCTAGGTATTTACACAAGGATACG -3'
Sequencing Primer
(F):5'- GTTATGCCACCTGCCCAGAATC -3'
(R):5'- GGTATTTACACAAGGATACGTATGAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation