Incidental Mutation 'R2377:Pcmtd2'
| ID |
248307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcmtd2
|
| Ensembl Gene |
ENSMUSG00000027589 |
| Gene Name |
protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 |
| Synonyms |
5330414D10Rik |
| MMRRC Submission |
040354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R2377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181479647-181499254 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 181497072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029116]
[ENSMUST00000108754]
|
| AlphaFold |
Q8BHD8 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000029116
AA Change: K350E
|
| SMART Domains |
Protein: ENSMUSP00000029116
Gene: ENSMUSG00000027589
AA Change: K350E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCMT
|
9 |
224 |
1e-28 |
PFAM |
|
low complexity region
|
277 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108754
|
| SMART Domains |
Protein: ENSMUSP00000104385
Gene: ENSMUSG00000027589
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCMT
|
9 |
215 |
2.1e-28 |
PFAM |
|
Pfam:DOT1
|
58 |
158 |
1.5e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122811
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124346
|
| SMART Domains |
Protein: ENSMUSP00000115743
Gene: ENSMUSG00000027589
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCMT
|
8 |
103 |
4.5e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145475
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,285,787 (GRCm39) |
D1304G |
probably damaging |
Het |
| Adamts10 |
C |
A |
17: 33,747,866 (GRCm39) |
H101N |
probably damaging |
Het |
| Apaf1 |
T |
A |
10: 90,915,755 (GRCm39) |
K44N |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,971,421 (GRCm39) |
N471K |
possibly damaging |
Het |
| Blvrb |
T |
A |
7: 27,159,024 (GRCm39) |
I94N |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,409,897 (GRCm39) |
P239S |
probably damaging |
Het |
| Chst4 |
T |
A |
8: 110,756,804 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Col5a1 |
T |
C |
2: 27,818,189 (GRCm39) |
F138S |
unknown |
Het |
| Dhx32 |
G |
T |
7: 133,326,207 (GRCm39) |
H407N |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,773,090 (GRCm39) |
P388S |
probably damaging |
Het |
| Fbxo10 |
A |
C |
4: 45,044,719 (GRCm39) |
Y639D |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,806,593 (GRCm39) |
T971A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,764,855 (GRCm39) |
A1099T |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,795,318 (GRCm39) |
L317F |
probably damaging |
Het |
| Ice1 |
G |
A |
13: 70,750,899 (GRCm39) |
A1729V |
probably damaging |
Het |
| Mcc |
C |
G |
18: 44,652,616 (GRCm39) |
K269N |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,274,002 (GRCm39) |
C83* |
probably null |
Het |
| Msl1 |
A |
G |
11: 98,694,789 (GRCm39) |
R273G |
probably damaging |
Het |
| Msl3l2 |
T |
C |
10: 55,991,659 (GRCm39) |
I128T |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,698,714 (GRCm39) |
D109V |
possibly damaging |
Het |
| Or14j5 |
A |
G |
17: 38,161,498 (GRCm39) |
N5S |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,083,255 (GRCm39) |
F26L |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,774,988 (GRCm39) |
L271Q |
probably damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,217 (GRCm39) |
Y309F |
possibly damaging |
Het |
| Polr1a |
T |
C |
6: 71,949,810 (GRCm39) |
|
probably null |
Het |
| Ptk2b |
T |
A |
14: 66,409,997 (GRCm39) |
I452F |
possibly damaging |
Het |
| Rad21 |
A |
G |
15: 51,831,834 (GRCm39) |
F416L |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,368,793 (GRCm39) |
I244N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Tnpo3 |
A |
C |
6: 29,579,618 (GRCm39) |
N258K |
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,272,229 (GRCm39) |
D789G |
possibly damaging |
Het |
| Vmn1r226 |
T |
G |
17: 20,907,992 (GRCm39) |
L75V |
probably benign |
Het |
| Zfp729b |
A |
C |
13: 67,739,820 (GRCm39) |
V815G |
possibly damaging |
Het |
|
| Other mutations in Pcmtd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3110:Pcmtd2
|
UTSW |
2 |
181,496,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3111:Pcmtd2
|
UTSW |
2 |
181,496,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3112:Pcmtd2
|
UTSW |
2 |
181,496,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4571:Pcmtd2
|
UTSW |
2 |
181,484,217 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5108:Pcmtd2
|
UTSW |
2 |
181,486,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Pcmtd2
|
UTSW |
2 |
181,496,787 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5778:Pcmtd2
|
UTSW |
2 |
181,496,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5861:Pcmtd2
|
UTSW |
2 |
181,484,268 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6841:Pcmtd2
|
UTSW |
2 |
181,486,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7063:Pcmtd2
|
UTSW |
2 |
181,496,776 (GRCm39) |
nonsense |
probably null |
|
|
R7407:Pcmtd2
|
UTSW |
2 |
181,488,398 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7706:Pcmtd2
|
UTSW |
2 |
181,496,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Pcmtd2
|
UTSW |
2 |
181,493,452 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7769:Pcmtd2
|
UTSW |
2 |
181,493,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7896:Pcmtd2
|
UTSW |
2 |
181,496,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Pcmtd2
|
UTSW |
2 |
181,496,863 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9433:Pcmtd2
|
UTSW |
2 |
181,496,837 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAAGAAGGCGAGTCCGTC -3'
(R):5'- GCAGACATCATGCAGTTCCC -3'
Sequencing Primer
(F):5'- TCGCCGCAGAATGGAGAC -3'
(R):5'- GCAGTTCCCAATGAGTTCAAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation