Incidental Mutation 'R7109:Podxl2'
ID |
551388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Podxl2
|
Ensembl Gene |
ENSMUSG00000033152 |
Gene Name |
podocalyxin-like 2 |
Synonyms |
PODLX2, Endoglycan, D130074J02Rik |
MMRRC Submission |
045201-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7109 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
88819540-88852026 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 88820566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 445
(V445I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032169]
[ENSMUST00000038409]
[ENSMUST00000061262]
[ENSMUST00000145944]
[ENSMUST00000203137]
[ENSMUST00000203272]
[ENSMUST00000203864]
[ENSMUST00000204327]
[ENSMUST00000204458]
[ENSMUST00000204932]
[ENSMUST00000205082]
|
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 |
possibly damaging
Transcript: ENSMUST00000038409
AA Change: V445I
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000040417 Gene: ENSMUSG00000033152 AA Change: V445I
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 |
possibly damaging
Transcript: ENSMUST00000061262
AA Change: V445I
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000058985 Gene: ENSMUSG00000033152 AA Change: V445I
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 |
possibly damaging
Transcript: ENSMUST00000145944
AA Change: V509I
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000117954 Gene: ENSMUSG00000033152 AA Change: V509I
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 |
probably benign
Transcript: ENSMUST00000203120
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203137
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203272
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203864
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204327
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204458
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204932
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205082
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
G |
2: 151,315,673 (GRCm39) |
K2Q |
probably damaging |
Het |
Abtb2 |
T |
C |
2: 103,545,860 (GRCm39) |
Y903H |
probably benign |
Het |
Adamtsl3 |
C |
T |
7: 82,261,069 (GRCm39) |
P29S |
|
Het |
Alcam |
T |
A |
16: 52,097,192 (GRCm39) |
T355S |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,516,522 (GRCm39) |
V404A |
probably benign |
Het |
Bst2 |
A |
G |
8: 71,989,926 (GRCm39) |
F49S |
possibly damaging |
Het |
C1qtnf9 |
G |
C |
14: 61,017,019 (GRCm39) |
W183S |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,648,087 (GRCm39) |
I132V |
possibly damaging |
Het |
Cchcr1 |
T |
A |
17: 35,828,838 (GRCm39) |
|
probably null |
Het |
Cenpk |
A |
G |
13: 104,367,256 (GRCm39) |
K31E |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,853,301 (GRCm39) |
K798E |
possibly damaging |
Het |
Copb2 |
T |
A |
9: 98,463,333 (GRCm39) |
|
probably null |
Het |
Dennd1a |
T |
A |
2: 37,938,804 (GRCm39) |
Y102F |
probably damaging |
Het |
Eif2ak4 |
C |
T |
2: 118,235,532 (GRCm39) |
P88S |
probably damaging |
Het |
Epha6 |
C |
A |
16: 59,503,031 (GRCm39) |
V959F |
probably damaging |
Het |
Fam193a |
C |
A |
5: 34,623,165 (GRCm39) |
T1251K |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,389,171 (GRCm39) |
Q3896L |
probably benign |
Het |
Ikbip |
C |
A |
10: 90,919,090 (GRCm39) |
D34E |
probably benign |
Het |
Insr |
A |
G |
8: 3,308,481 (GRCm39) |
V185A |
probably benign |
Het |
Jakmip1 |
C |
T |
5: 37,332,109 (GRCm39) |
Q930* |
probably null |
Het |
Klc1 |
A |
G |
12: 111,743,299 (GRCm39) |
I209V |
probably benign |
Het |
Lrrk2 |
T |
A |
15: 91,648,985 (GRCm39) |
L1660M |
probably damaging |
Het |
Mbd3l1 |
G |
T |
9: 18,396,210 (GRCm39) |
D112Y |
possibly damaging |
Het |
Mrps2 |
T |
A |
2: 28,358,258 (GRCm39) |
V16E |
probably benign |
Het |
Ncoa1 |
G |
A |
12: 4,372,978 (GRCm39) |
T141I |
possibly damaging |
Het |
Ndst2 |
G |
T |
14: 20,779,911 (GRCm39) |
R110S |
probably damaging |
Het |
Nlrp2 |
A |
G |
7: 5,331,616 (GRCm39) |
V260A |
probably damaging |
Het |
Or4d10 |
A |
G |
19: 12,051,576 (GRCm39) |
I140T |
probably benign |
Het |
Or51a6 |
A |
T |
7: 102,604,460 (GRCm39) |
V116E |
probably damaging |
Het |
Or5p1 |
A |
G |
7: 107,916,959 (GRCm39) |
N286S |
probably damaging |
Het |
Or7g16 |
A |
T |
9: 18,726,904 (GRCm39) |
S229T |
probably benign |
Het |
Pah |
T |
C |
10: 87,406,148 (GRCm39) |
V262A |
probably damaging |
Het |
Pcnt |
T |
G |
10: 76,205,738 (GRCm39) |
E2538A |
probably damaging |
Het |
Pdxk |
T |
A |
10: 78,282,810 (GRCm39) |
I162F |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,455,650 (GRCm39) |
F110L |
probably damaging |
Het |
Pm20d2 |
A |
T |
4: 33,187,186 (GRCm39) |
L154Q |
probably damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,719,235 (GRCm39) |
W560R |
probably benign |
Het |
Rasal3 |
A |
G |
17: 32,611,683 (GRCm39) |
S815P |
probably damaging |
Het |
Rdm1 |
A |
G |
11: 101,524,654 (GRCm39) |
K196E |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scn1a |
T |
C |
2: 66,181,286 (GRCm39) |
D79G |
possibly damaging |
Het |
Slc22a21 |
A |
G |
11: 53,870,329 (GRCm39) |
Y119H |
possibly damaging |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Synrg |
C |
A |
11: 83,930,498 (GRCm39) |
A1280E |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,232,676 (GRCm39) |
C2396R |
unknown |
Het |
Trappc3 |
A |
G |
4: 126,167,726 (GRCm39) |
N95S |
probably benign |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,113,681 (GRCm39) |
D633E |
probably benign |
Het |
Wasl |
G |
A |
6: 24,633,186 (GRCm39) |
P151S |
probably benign |
Het |
Wwp2 |
A |
G |
8: 108,209,988 (GRCm39) |
N122S |
probably benign |
Het |
Zfp51 |
A |
G |
17: 21,683,831 (GRCm39) |
R149G |
possibly damaging |
Het |
Zfp764 |
A |
G |
7: 127,003,887 (GRCm39) |
S415P |
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 |
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 |
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'- TGAGCACAACTGAGTTGGTACAG -3'
(R):5'- AGGGACAGAATGGTATGCCC -3'
Sequencing Primer
(F):5'- CACAACTGAGTTGGTACAGGTTTC -3'
(R):5'- GACAGAATGGTATGCCCCTCTATG -3'
|
Posted On |
2019-05-15 |