Incidental Mutation 'R4197:Pdcd10'
| ID |
318586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdcd10
|
| Ensembl Gene |
ENSMUSG00000027835 |
| Gene Name |
programmed cell death 10 |
| Synonyms |
2410003B13Rik, Tfa15, TF-1 cell apoptosis related protein-15, CCM3 |
| MMRRC Submission |
041028-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4197 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
75423797-75464159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75424899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 189
(N189K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029424]
[ENSMUST00000161137]
|
| AlphaFold |
Q8VE70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029424
AA Change: N126K
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029424
Gene: ENSMUSG00000027835
AA Change: N126K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1241
|
1 |
99 |
1.7e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160196
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161137
AA Change: N189K
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125752
Gene: ENSMUSG00000027835
AA Change: N189K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1241
|
14 |
161 |
1.7e-66 |
PFAM |
|
| Meta Mutation Damage Score |
0.0856 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout is embryonic lethal due to impaired hematopoeisis, vasculogenesis, and abnormal heart morphology. Conditional knockout in myeloids increases degranulation of, and exocytosis by, neutrophils. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccno |
G |
A |
13: 113,125,603 (GRCm39) |
C189Y |
probably damaging |
Het |
| Cd36 |
T |
A |
5: 18,018,086 (GRCm39) |
D209V |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,148,547 (GRCm39) |
L1561Q |
possibly damaging |
Het |
| Dhx34 |
G |
T |
7: 15,937,651 (GRCm39) |
H777N |
probably damaging |
Het |
| Dlat |
T |
C |
9: 50,547,826 (GRCm39) |
T610A |
probably damaging |
Het |
| Efcab15 |
G |
A |
11: 103,091,966 (GRCm39) |
S94L |
probably benign |
Het |
| Fip1l1 |
T |
A |
5: 74,696,397 (GRCm39) |
D19E |
probably damaging |
Het |
| Gm5699 |
T |
A |
1: 31,037,726 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
C |
16: 9,579,831 (GRCm39) |
F144C |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,259,012 (GRCm39) |
|
probably null |
Het |
| Klhl31 |
T |
C |
9: 77,558,091 (GRCm39) |
V269A |
probably damaging |
Het |
| Lypd10 |
A |
G |
7: 24,413,119 (GRCm39) |
D146G |
probably benign |
Het |
| Mmel1 |
T |
C |
4: 154,977,761 (GRCm39) |
I594T |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,802,149 (GRCm39) |
S1913T |
probably benign |
Het |
| Or6a2 |
T |
C |
7: 106,600,245 (GRCm39) |
D274G |
probably damaging |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,358 (GRCm39) |
K155E |
probably benign |
Het |
| Pde3b |
T |
G |
7: 114,130,107 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,041,221 (GRCm39) |
N1775S |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,626,162 (GRCm39) |
S1625G |
unknown |
Het |
| Ptpn21 |
G |
T |
12: 98,646,397 (GRCm39) |
H1020Q |
probably damaging |
Het |
| Rad23b |
C |
T |
4: 55,385,455 (GRCm39) |
P331S |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,836,836 (GRCm39) |
N475Y |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,619,064 (GRCm39) |
T531A |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,548,197 (GRCm39) |
L679Q |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,100,238 (GRCm39) |
D10E |
possibly damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,137,228 (GRCm39) |
V84I |
probably benign |
Het |
| Slco5a1 |
G |
T |
1: 12,964,740 (GRCm39) |
S512R |
probably damaging |
Het |
| Sv2c |
A |
T |
13: 96,114,636 (GRCm39) |
F517I |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
| Trav13n-4 |
C |
T |
14: 53,601,378 (GRCm39) |
T49I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,716,422 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,394,189 (GRCm39) |
S2261P |
probably damaging |
Het |
| Vmn2r87 |
G |
A |
10: 130,315,779 (GRCm39) |
P96S |
possibly damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,425 (GRCm39) |
M353V |
probably benign |
Het |
|
| Other mutations in Pdcd10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Pdcd10
|
APN |
3 |
75,448,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01545:Pdcd10
|
APN |
3 |
75,448,475 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02179:Pdcd10
|
APN |
3 |
75,434,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Pdcd10
|
APN |
3 |
75,434,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0299:Pdcd10
|
UTSW |
3 |
75,434,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Pdcd10
|
UTSW |
3 |
75,434,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Pdcd10
|
UTSW |
3 |
75,448,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4615:Pdcd10
|
UTSW |
3 |
75,428,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Pdcd10
|
UTSW |
3 |
75,448,553 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5469:Pdcd10
|
UTSW |
3 |
75,428,364 (GRCm39) |
nonsense |
probably null |
|
|
R6628:Pdcd10
|
UTSW |
3 |
75,428,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9358:Pdcd10
|
UTSW |
3 |
75,448,533 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCCCATTCAACATCCTGGATTAG -3'
(R):5'- CAGTGGTTCCTAGACGCTATAG -3'
Sequencing Primer
(F):5'- GGATTAGGTCCCTCCGGAG -3'
(R):5'- TCCTAGACGCTATAGTTTATAACCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation