Incidental Mutation 'IGL00863:Pdgfrl'
| ID |
12965 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdgfrl
|
| Ensembl Gene |
ENSMUSG00000031595 |
| Gene Name |
platelet-derived growth factor receptor-like |
| Synonyms |
1110039P19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41379270-41443819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41438571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 169
(E169G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034004]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034004
AA Change: E169G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034004
Gene: ENSMUSG00000031595
AA Change: E169G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
IG_like
|
81 |
168 |
5.41e0 |
SMART |
|
SCOP:d1fltx_
|
171 |
260 |
4e-23 |
SMART |
|
IG
|
278 |
375 |
2.75e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsn |
A |
G |
9: 107,992,521 (GRCm39) |
I1077T |
probably damaging |
Het |
| Car8 |
A |
G |
4: 8,183,251 (GRCm39) |
|
probably null |
Het |
| Ccdc192 |
A |
T |
18: 57,727,158 (GRCm39) |
E136V |
probably damaging |
Het |
| Ccny |
A |
T |
18: 9,345,444 (GRCm39) |
D143E |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,876,874 (GRCm39) |
V155A |
probably damaging |
Het |
| Cript |
T |
A |
17: 87,335,151 (GRCm39) |
I14N |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Cyria |
A |
T |
12: 12,409,235 (GRCm39) |
I72F |
probably benign |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,776,175 (GRCm39) |
V60A |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,139 (GRCm39) |
E249D |
possibly damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Grik2 |
A |
G |
10: 49,232,024 (GRCm39) |
V502A |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,450,009 (GRCm39) |
V2001A |
probably benign |
Het |
| Il4i1 |
T |
A |
7: 44,487,470 (GRCm39) |
Y148* |
probably null |
Het |
| Jmjd4 |
T |
C |
11: 59,341,569 (GRCm39) |
S113P |
probably benign |
Het |
| Nceh1 |
C |
T |
3: 27,295,462 (GRCm39) |
P241L |
probably damaging |
Het |
| Pals1 |
A |
G |
12: 78,856,595 (GRCm39) |
D146G |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,334,737 (GRCm39) |
D350E |
probably damaging |
Het |
| Ppm1l |
T |
A |
3: 69,225,283 (GRCm39) |
D128E |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,436,548 (GRCm39) |
V160A |
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,288,184 (GRCm39) |
|
probably null |
Het |
| Slitrk1 |
T |
A |
14: 109,149,269 (GRCm39) |
N481Y |
probably damaging |
Het |
| Tas2r139 |
T |
G |
6: 42,118,055 (GRCm39) |
S62R |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,380 (GRCm39) |
T226S |
probably benign |
Het |
| Tvp23b |
C |
A |
11: 62,774,464 (GRCm39) |
A36E |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,076 (GRCm39) |
E301K |
probably benign |
Het |
|
| Other mutations in Pdgfrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Pdgfrl
|
APN |
8 |
41,438,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02388:Pdgfrl
|
APN |
8 |
41,430,094 (GRCm39) |
missense |
probably benign |
|
|
IGL02811:Pdgfrl
|
APN |
8 |
41,430,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02973:Pdgfrl
|
APN |
8 |
41,438,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Pdgfrl
|
UTSW |
8 |
41,438,831 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3802:Pdgfrl
|
UTSW |
8 |
41,438,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Pdgfrl
|
UTSW |
8 |
41,429,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9297:Pdgfrl
|
UTSW |
8 |
41,391,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9757:Pdgfrl
|
UTSW |
8 |
41,379,454 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2012-12-06 |
Incidental Mutation