Incidental Mutation 'R2383:Plrg1'
| ID |
247596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plrg1
|
| Ensembl Gene |
ENSMUSG00000027998 |
| Gene Name |
pleiotropic regulator 1 |
| Synonyms |
Tango4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2383 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
83055522-83072355 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83065948 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 178
(P178S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029628]
[ENSMUST00000122128]
[ENSMUST00000150268]
|
| AlphaFold |
Q922V4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029628
AA Change: P187S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029628
Gene: ENSMUSG00000027998
AA Change: P187S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
192 |
231 |
1.92e-10 |
SMART |
|
WD40
|
234 |
273 |
1.68e-6 |
SMART |
|
WD40
|
276 |
315 |
1.96e-7 |
SMART |
|
WD40
|
318 |
357 |
5.95e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122128
AA Change: P178S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113614
Gene: ENSMUSG00000027998
AA Change: P178S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
183 |
222 |
1.92e-10 |
SMART |
|
WD40
|
225 |
264 |
1.68e-6 |
SMART |
|
WD40
|
267 |
306 |
1.96e-7 |
SMART |
|
WD40
|
309 |
348 |
5.95e-7 |
SMART |
|
WD40
|
351 |
389 |
1.12e-2 |
SMART |
|
WD40
|
392 |
430 |
5.47e-6 |
SMART |
|
WD40
|
442 |
480 |
5.97e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135813
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150268
AA Change: P187S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114968
Gene: ENSMUSG00000027998
AA Change: P187S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
192 |
231 |
1.92e-10 |
SMART |
|
WD40
|
234 |
273 |
1.68e-6 |
SMART |
|
WD40
|
276 |
315 |
1.96e-7 |
SMART |
|
WD40
|
318 |
357 |
5.95e-7 |
SMART |
|
WD40
|
360 |
398 |
1.12e-2 |
SMART |
|
WD40
|
401 |
439 |
5.47e-6 |
SMART |
|
WD40
|
451 |
489 |
5.97e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151915
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality by E1.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
T |
C |
2: 131,051,362 |
T748A |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,422,956 |
V435A |
possibly damaging |
Het |
| BC005561 |
T |
C |
5: 104,518,988 |
S459P |
probably benign |
Het |
| BC048403 |
A |
G |
10: 121,750,649 |
T290A |
possibly damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,534,208 |
E345K |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,503,420 |
I227V |
possibly damaging |
Het |
| Cndp2 |
C |
A |
18: 84,675,090 |
D182Y |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,447,517 |
|
probably benign |
Het |
| Cyp2e1 |
C |
T |
7: 140,770,068 |
S222L |
probably benign |
Het |
| Evx2 |
T |
C |
2: 74,658,049 |
|
probably null |
Het |
| L1td1 |
A |
G |
4: 98,737,722 |
E718G |
possibly damaging |
Het |
| Lgr4 |
T |
C |
2: 110,000,615 |
S296P |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 158,163,956 |
M709V |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,566,194 |
G162D |
probably damaging |
Het |
| Nap1l1 |
T |
G |
10: 111,493,411 |
D295E |
probably damaging |
Het |
| Olfr38 |
A |
T |
6: 42,762,459 |
M136L |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,728,280 |
I402F |
probably benign |
Het |
| Sla |
T |
A |
15: 66,782,676 |
I254F |
probably damaging |
Het |
| Slc25a29 |
A |
G |
12: 108,827,008 |
S215P |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,798,684 |
V1303A |
probably benign |
Het |
| Trim45 |
A |
T |
3: 100,925,227 |
I259F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,706,512 |
S34990G |
probably benign |
Het |
| Zbtb48 |
A |
G |
4: 152,026,950 |
V36A |
probably damaging |
Het |
|
| Other mutations in Plrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Plrg1
|
APN |
3 |
83070673 |
missense |
probably damaging |
0.99 |
|
IGL00824:Plrg1
|
APN |
3 |
83068335 |
missense |
probably damaging |
1.00 |
|
IGL00948:Plrg1
|
APN |
3 |
83068119 |
missense |
probably damaging |
1.00 |
|
IGL02550:Plrg1
|
APN |
3 |
83061123 |
critical splice donor site |
probably null |
|
|
R0743:Plrg1
|
UTSW |
3 |
83059917 |
missense |
probably benign |
0.11 |
|
R1624:Plrg1
|
UTSW |
3 |
83067994 |
splice site |
probably benign |
|
|
R1624:Plrg1
|
UTSW |
3 |
83069744 |
missense |
probably damaging |
1.00 |
|
R1630:Plrg1
|
UTSW |
3 |
83058763 |
missense |
probably benign |
0.00 |
|
R1876:Plrg1
|
UTSW |
3 |
83069068 |
splice site |
probably benign |
|
|
R2892:Plrg1
|
UTSW |
3 |
83071240 |
missense |
probably damaging |
1.00 |
|
R3406:Plrg1
|
UTSW |
3 |
83071219 |
missense |
probably damaging |
1.00 |
|
R5114:Plrg1
|
UTSW |
3 |
83071251 |
missense |
probably benign |
0.13 |
|
R5922:Plrg1
|
UTSW |
3 |
83056848 |
missense |
possibly damaging |
0.77 |
|
R6333:Plrg1
|
UTSW |
3 |
83056795 |
missense |
probably damaging |
1.00 |
|
R7127:Plrg1
|
UTSW |
3 |
83059915 |
missense |
probably damaging |
1.00 |
|
R7530:Plrg1
|
UTSW |
3 |
83058682 |
missense |
probably damaging |
1.00 |
|
R7814:Plrg1
|
UTSW |
3 |
83056837 |
missense |
probably damaging |
1.00 |
|
R8123:Plrg1
|
UTSW |
3 |
83065930 |
missense |
probably benign |
0.16 |
|
R8131:Plrg1
|
UTSW |
3 |
83069774 |
missense |
probably damaging |
1.00 |
|
R9332:Plrg1
|
UTSW |
3 |
83069001 |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGGTATCTTAGCTGTCTTCCTC -3'
(R):5'- CCGCCACAGTGAAGAACTTTC -3'
Sequencing Primer
(F):5'- AGCTGTCTTCCTCTTCAGTTAATG -3'
(R):5'- AAGAACTTTCTTAGTCACCTGCTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation