Incidental Mutation 'R3500:Podxl2'
| ID |
273759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Podxl2
|
| Ensembl Gene |
ENSMUSG00000033152 |
| Gene Name |
podocalyxin-like 2 |
| Synonyms |
PODLX2, Endoglycan, D130074J02Rik |
| MMRRC Submission |
040663-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3500 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
88819540-88852026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88819900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 554
(D554G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032169]
[ENSMUST00000038409]
[ENSMUST00000061262]
[ENSMUST00000145944]
[ENSMUST00000204932]
[ENSMUST00000205082]
[ENSMUST00000203137]
[ENSMUST00000203272]
[ENSMUST00000204458]
[ENSMUST00000203864]
[ENSMUST00000204327]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032169
|
| SMART Domains |
Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
1 |
31 |
5.03e2 |
SMART |
|
ANK
|
35 |
64 |
2.81e-4 |
SMART |
|
BTB
|
115 |
212 |
7.8e-18 |
SMART |
|
BTB
|
272 |
376 |
4.24e-19 |
SMART |
|
low complexity region
|
412 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038409
AA Change: D490G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152
AA Change: D490G
| 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 damaging
Transcript: ENSMUST00000061262
AA Change: D490G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152
AA Change: D490G
| 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 |
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: ENSMUST00000141401
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145944
AA Change: D554G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152
AA Change: D554G
| 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 |
probably benign
Transcript: ENSMUST00000204932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203120
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204560
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205082
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203137
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204458
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204327
|
| Meta Mutation Damage Score |
0.5777 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
98% (53/54) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amhr2 |
A |
G |
15: 102,355,501 (GRCm39) |
D188G |
probably benign |
Het |
| Arl15 |
G |
A |
13: 114,104,228 (GRCm39) |
E102K |
probably damaging |
Het |
| Atp10d |
C |
T |
5: 72,403,066 (GRCm39) |
R319C |
probably damaging |
Het |
| Cetn4 |
A |
T |
3: 37,364,109 (GRCm39) |
F34I |
probably benign |
Het |
| Chd8 |
G |
T |
14: 52,443,110 (GRCm39) |
H510N |
probably benign |
Het |
| Chil5 |
T |
C |
3: 105,925,536 (GRCm39) |
D157G |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,269,929 (GRCm39) |
S251P |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,408,670 (GRCm39) |
C881S |
probably benign |
Het |
| Cnot4 |
G |
A |
6: 35,057,076 (GRCm39) |
|
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,872,905 (GRCm39) |
|
probably benign |
Het |
| Czib |
C |
T |
4: 107,748,710 (GRCm39) |
R83W |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,735,006 (GRCm39) |
M631T |
probably damaging |
Het |
| Elavl3 |
A |
G |
9: 21,930,040 (GRCm39) |
V288A |
probably damaging |
Het |
| Fancb |
A |
G |
X: 163,779,104 (GRCm39) |
T721A |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,151,342 (GRCm39) |
F3800S |
probably damaging |
Het |
| Fgd2 |
T |
C |
17: 29,584,575 (GRCm39) |
V173A |
possibly damaging |
Het |
| Gabrr1 |
T |
C |
4: 33,158,184 (GRCm39) |
|
probably benign |
Het |
| Gata4 |
C |
T |
14: 63,437,982 (GRCm39) |
G390S |
possibly damaging |
Het |
| Gm9396 |
C |
A |
3: 129,862,144 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
T |
C |
6: 63,480,383 (GRCm39) |
S66P |
probably damaging |
Het |
| Hdac9 |
C |
A |
12: 34,487,352 (GRCm39) |
M16I |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,504,477 (GRCm39) |
D3610E |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,730,673 (GRCm39) |
M1K |
probably null |
Het |
| Ldhb |
T |
C |
6: 142,447,173 (GRCm39) |
D47G |
probably damaging |
Het |
| Map3k11 |
A |
T |
19: 5,740,275 (GRCm39) |
M1L |
probably benign |
Het |
| Mecom |
C |
T |
3: 30,035,061 (GRCm39) |
R205H |
probably damaging |
Het |
| Mob1b |
A |
G |
5: 88,897,479 (GRCm39) |
D129G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,588,431 (GRCm39) |
V2436A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,215,797 (GRCm39) |
N170S |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,345,931 (GRCm39) |
A848T |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,597,952 (GRCm39) |
R282* |
probably null |
Het |
| Or4c102 |
A |
G |
2: 88,422,285 (GRCm39) |
T46A |
probably damaging |
Het |
| Or4c119 |
C |
T |
2: 88,987,403 (GRCm39) |
G39R |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,421 (GRCm39) |
V245A |
possibly damaging |
Het |
| Or4f47 |
T |
C |
2: 111,972,472 (GRCm39) |
F61L |
possibly damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,297 (GRCm39) |
Y219C |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,532 (GRCm39) |
L109* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,339,717 (GRCm39) |
M1043V |
probably benign |
Het |
| Ppp3ca |
A |
G |
3: 136,587,273 (GRCm39) |
T252A |
probably benign |
Het |
| Pramel6 |
A |
G |
2: 87,339,569 (GRCm39) |
H111R |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,002,692 (GRCm39) |
E130G |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,357,041 (GRCm39) |
A57V |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,210,531 (GRCm39) |
F95L |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 141,992,371 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
T |
A |
6: 132,688,523 (GRCm39) |
K123N |
probably damaging |
Het |
| Tbpl2 |
C |
T |
2: 23,977,151 (GRCm39) |
R289Q |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,768,136 (GRCm39) |
F788L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,560,628 (GRCm39) |
L29258F |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,591,509 (GRCm39) |
F19307L |
possibly damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,690,129 (GRCm39) |
I335T |
possibly damaging |
Het |
|
| Other mutations in Podxl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01541:Podxl2
|
APN |
6 |
88,826,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAATGGAGTCCTGGCGC -3'
(R):5'- TAGGTTTGAGTTGCAGGCAC -3'
Sequencing Primer
(F):5'- AAGCATAGTGGTCCGCGTG -3'
(R):5'- AGTTGCAGGCACTTGTATCC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation