Incidental Mutation 'IGL01541:Podxl2'
| ID |
90170 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Podxl2
|
| Ensembl Gene |
ENSMUSG00000033152 |
| Gene Name |
podocalyxin-like 2 |
| Synonyms |
PODLX2, Endoglycan, D130074J02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88819540-88852026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88826331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 325
(L325P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038409]
[ENSMUST00000061262]
[ENSMUST00000140455]
[ENSMUST00000145780]
[ENSMUST00000145944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038409
AA Change: L261P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152
AA Change: L261P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
152 |
N/A |
INTRINSIC |
|
Pfam:CD34_antigen
|
328 |
539 |
9e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061262
AA Change: L261P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152
AA Change: L261P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
152 |
N/A |
INTRINSIC |
|
Pfam:CD34_antigen
|
328 |
539 |
5.4e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124562
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140455
|
| SMART Domains |
Protein: ENSMUSP00000120870
Gene: ENSMUSG00000033152
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141348
|
| SMART Domains |
Protein: ENSMUSP00000121139
Gene: ENSMUSG00000033152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD34_antigen
|
77 |
176 |
1.8e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142266
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145780
|
| SMART Domains |
Protein: ENSMUSP00000120460
Gene: ENSMUSG00000033152
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145944
AA Change: L325P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152
AA Change: L325P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
coiled coil region
|
152 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147542
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205158
|
| 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 is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins. [provided by RefSeq, Oct 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,762,205 (GRCm39) |
S505G |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,985,243 (GRCm39) |
H2176Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,572 (GRCm39) |
D2544Y |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,350,283 (GRCm39) |
F88L |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,723 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,708,907 (GRCm39) |
V1251A |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,129,955 (GRCm39) |
F273I |
possibly damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,965 (GRCm39) |
C104R |
probably damaging |
Het |
| Ercc3 |
A |
T |
18: 32,381,372 (GRCm39) |
D396V |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,940,014 (GRCm39) |
D556V |
probably damaging |
Het |
| Frg1 |
C |
T |
8: 41,863,362 (GRCm39) |
|
probably benign |
Het |
| Fto |
T |
C |
8: 92,136,376 (GRCm39) |
Y217H |
probably damaging |
Het |
| Garin4 |
A |
T |
1: 190,896,606 (GRCm39) |
Y12* |
probably null |
Het |
| Grin3a |
A |
T |
4: 49,792,533 (GRCm39) |
V400E |
probably damaging |
Het |
| Gtse1 |
T |
A |
15: 85,759,855 (GRCm39) |
L682* |
probably null |
Het |
| Igkv6-32 |
A |
G |
6: 70,051,290 (GRCm39) |
I22T |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,215,905 (GRCm39) |
C35R |
probably damaging |
Het |
| Lzts3 |
A |
T |
2: 130,478,126 (GRCm39) |
L324Q |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,236,069 (GRCm39) |
R453* |
probably null |
Het |
| Naa35 |
T |
A |
13: 59,748,777 (GRCm39) |
H132Q |
probably damaging |
Het |
| Pgm5 |
C |
A |
19: 24,793,777 (GRCm39) |
G296W |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,805,272 (GRCm39) |
C3275S |
probably damaging |
Het |
| Prom2 |
A |
G |
2: 127,371,050 (GRCm39) |
|
probably null |
Het |
| Rab12 |
T |
C |
17: 66,804,404 (GRCm39) |
S185G |
probably damaging |
Het |
| Rnf43 |
T |
G |
11: 87,621,046 (GRCm39) |
M313R |
probably null |
Het |
| Rusc2 |
T |
C |
4: 43,415,840 (GRCm39) |
V382A |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,516,618 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,816,770 (GRCm39) |
I10T |
probably benign |
Het |
| Smpd1 |
T |
C |
7: 105,205,033 (GRCm39) |
F304S |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,044,725 (GRCm39) |
V1454I |
probably benign |
Het |
| Tdrd7 |
A |
T |
4: 46,018,551 (GRCm39) |
I722F |
possibly damaging |
Het |
| Topors |
T |
C |
4: 40,262,364 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,807,502 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,778 (GRCm39) |
M169I |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,257 (GRCm39) |
S789G |
unknown |
Het |
| Zfp629 |
G |
T |
7: 127,211,917 (GRCm39) |
|
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,230,156 (GRCm39) |
R123I |
probably benign |
Het |
|
| Other mutations in Podxl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01642:Podxl2
|
APN |
6 |
88,820,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Podxl2
|
UTSW |
6 |
88,826,660 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0336:Podxl2
|
UTSW |
6 |
88,826,577 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0625:Podxl2
|
UTSW |
6 |
88,826,937 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1239:Podxl2
|
UTSW |
6 |
88,826,965 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1316:Podxl2
|
UTSW |
6 |
88,826,199 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1650:Podxl2
|
UTSW |
6 |
88,826,901 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1933:Podxl2
|
UTSW |
6 |
88,826,587 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2338:Podxl2
|
UTSW |
6 |
88,826,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3500:Podxl2
|
UTSW |
6 |
88,819,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5243:Podxl2
|
UTSW |
6 |
88,826,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5726:Podxl2
|
UTSW |
6 |
88,825,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Podxl2
|
UTSW |
6 |
88,826,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Podxl2
|
UTSW |
6 |
88,826,299 (GRCm39) |
nonsense |
probably null |
|
|
R6527:Podxl2
|
UTSW |
6 |
88,819,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Podxl2
|
UTSW |
6 |
88,820,566 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7129:Podxl2
|
UTSW |
6 |
88,820,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7376:Podxl2
|
UTSW |
6 |
88,826,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7539:Podxl2
|
UTSW |
6 |
88,826,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation