Incidental Mutation 'R6527:Podxl2'
| ID |
521964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Podxl2
|
| Ensembl Gene |
ENSMUSG00000033152 |
| Gene Name |
podocalyxin-like 2 |
| Synonyms |
PODLX2, Endoglycan, D130074J02Rik |
| MMRRC Submission |
044653-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6527 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
88819540-88852026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88819912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 550
(N550S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032169]
[ENSMUST00000038409]
[ENSMUST00000061262]
[ENSMUST00000145944]
[ENSMUST00000204327]
[ENSMUST00000203272]
[ENSMUST00000204932]
[ENSMUST00000203137]
[ENSMUST00000205082]
[ENSMUST00000203864]
[ENSMUST00000204458]
|
| 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: N486S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152
AA Change: N486S
| 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: N486S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152
AA Change: N486S
| 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: N550S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152
AA Change: N550S
| 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: ENSMUST00000204327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204560
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203460
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147542
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203137
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204458
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,288 (GRCm39) |
T826A |
probably damaging |
Het |
| Abca16 |
T |
A |
7: 120,076,995 (GRCm39) |
I686N |
possibly damaging |
Het |
| Abcb6 |
T |
C |
1: 75,154,132 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
A |
C |
5: 81,935,364 (GRCm39) |
E1299A |
probably damaging |
Het |
| Amd2 |
A |
C |
10: 35,586,802 (GRCm39) |
Y252D |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,506,722 (GRCm39) |
|
probably null |
Het |
| Dhx29 |
G |
T |
13: 113,069,076 (GRCm39) |
K135N |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,240,516 (GRCm39) |
D245V |
possibly damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,623,482 (GRCm39) |
Q83* |
probably null |
Het |
| Dsp |
T |
A |
13: 38,379,849 (GRCm39) |
L1599Q |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,125,095 (GRCm39) |
V369A |
probably benign |
Het |
| Flacc1 |
T |
C |
1: 58,731,572 (GRCm39) |
M1V |
probably null |
Het |
| Gbe1 |
T |
A |
16: 70,230,560 (GRCm39) |
|
probably null |
Het |
| Gm7298 |
A |
G |
6: 121,746,669 (GRCm39) |
K600R |
probably benign |
Het |
| Heatr4 |
C |
T |
12: 84,026,537 (GRCm39) |
G240E |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,689,589 (GRCm39) |
V651A |
possibly damaging |
Het |
| Jam3 |
C |
T |
9: 27,066,640 (GRCm39) |
R8Q |
unknown |
Het |
| Letm2 |
A |
G |
8: 26,082,522 (GRCm39) |
|
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,339 (GRCm39) |
D494G |
probably benign |
Het |
| Mast2 |
T |
C |
4: 116,172,136 (GRCm39) |
D604G |
probably damaging |
Het |
| Mif4gd |
C |
T |
11: 115,500,101 (GRCm39) |
|
probably null |
Het |
| Msr1 |
T |
C |
8: 40,077,274 (GRCm39) |
E112G |
possibly damaging |
Het |
| Mtus2 |
A |
G |
5: 148,214,408 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
G |
16: 32,753,433 (GRCm38) |
H1103R |
probably benign |
Het |
| Nudt14 |
T |
A |
12: 112,898,507 (GRCm39) |
I198F |
possibly damaging |
Het |
| Or11j4 |
T |
A |
14: 50,630,885 (GRCm39) |
L224* |
probably null |
Het |
| Or13p3 |
T |
A |
4: 118,567,045 (GRCm39) |
F147Y |
possibly damaging |
Het |
| Or1n1b |
T |
C |
2: 36,780,594 (GRCm39) |
T89A |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,129,066 (GRCm39) |
I884T |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,045,949 (GRCm39) |
Y151C |
probably damaging |
Het |
| Prss42 |
T |
C |
9: 110,629,924 (GRCm39) |
V226A |
possibly damaging |
Het |
| Psmd12 |
A |
G |
11: 107,379,794 (GRCm39) |
I116V |
probably damaging |
Het |
| Psme4 |
A |
C |
11: 30,782,175 (GRCm39) |
I872L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,664,420 (GRCm39) |
V65E |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,019,473 (GRCm39) |
N700S |
possibly damaging |
Het |
| Slc15a4 |
G |
A |
5: 127,673,773 (GRCm39) |
T547M |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,103,932 (GRCm39) |
C268S |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,205,554 (GRCm39) |
Q794R |
probably benign |
Het |
| Sqor |
A |
G |
2: 122,651,206 (GRCm39) |
Y434C |
probably damaging |
Het |
| Steap4 |
T |
A |
5: 8,028,502 (GRCm39) |
L360H |
probably damaging |
Het |
| Sycp1 |
A |
G |
3: 102,806,203 (GRCm39) |
V496A |
probably benign |
Het |
| Tmem161b |
T |
G |
13: 84,420,383 (GRCm39) |
M128R |
probably benign |
Het |
| Tmem59l |
T |
C |
8: 70,938,775 (GRCm39) |
E102G |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,340,247 (GRCm39) |
V457D |
probably benign |
Het |
| Tomt |
A |
G |
7: 101,549,599 (GRCm39) |
Y230H |
probably damaging |
Het |
| Trim37 |
A |
G |
11: 87,080,910 (GRCm39) |
N561D |
probably damaging |
Het |
| V1ra8 |
T |
A |
6: 90,180,295 (GRCm39) |
I166K |
probably damaging |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,575 (GRCm39) |
V14A |
probably benign |
Het |
| Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,184,653 (GRCm39) |
S384C |
possibly damaging |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Zfp984 |
T |
C |
4: 147,840,381 (GRCm39) |
N157D |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,765,816 (GRCm39) |
D1448N |
probably benign |
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 |
|
|
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'- GCTTTAATGGAGTCCTGGCG -3'
(R):5'- TTGGAAGGGATCAAGTGACACC -3'
Sequencing Primer
(F):5'- AAGCATAGTGGTCCGCGTG -3'
(R):5'- CCAAGGGGGTCACAGGGTTTAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation