Incidental Mutation 'R2200:Podn'
ID |
238598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Podn
|
Ensembl Gene |
ENSMUSG00000028600 |
Gene Name |
podocan |
Synonyms |
SLRR5A |
MMRRC Submission |
040202-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2200 (G1)
|
Quality Score |
212 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
107871990-107889151 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107879787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 66
(D66G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044248]
[ENSMUST00000106708]
[ENSMUST00000106709]
[ENSMUST00000146851]
|
AlphaFold |
Q7TQ62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044248
AA Change: D211G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000048962 Gene: ENSMUSG00000028600 AA Change: D211G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
LRRNT
|
68 |
101 |
4.34e-5 |
SMART |
LRR_TYP
|
120 |
145 |
2.05e-2 |
SMART |
LRR
|
146 |
169 |
1.19e1 |
SMART |
LRR
|
192 |
216 |
2.84e1 |
SMART |
LRR
|
239 |
261 |
6.22e0 |
SMART |
LRR
|
262 |
287 |
3.47e0 |
SMART |
LRR_TYP
|
288 |
311 |
7.9e-4 |
SMART |
LRR
|
333 |
358 |
1.26e1 |
SMART |
LRR
|
359 |
382 |
2.82e0 |
SMART |
LRR
|
407 |
429 |
1.53e2 |
SMART |
LRR_TYP
|
430 |
453 |
7.37e-4 |
SMART |
LRR
|
475 |
500 |
1.66e1 |
SMART |
LRR
|
501 |
522 |
1.29e1 |
SMART |
LRR_TYP
|
523 |
545 |
7.67e-2 |
SMART |
low complexity region
|
594 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106708
AA Change: D211G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102319 Gene: ENSMUSG00000028600 AA Change: D211G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
LRRNT
|
68 |
101 |
4.34e-5 |
SMART |
LRR_TYP
|
120 |
145 |
2.05e-2 |
SMART |
LRR
|
146 |
169 |
1.19e1 |
SMART |
LRR
|
192 |
216 |
2.84e1 |
SMART |
LRR
|
239 |
261 |
6.22e0 |
SMART |
LRR
|
262 |
287 |
3.47e0 |
SMART |
LRR_TYP
|
288 |
311 |
7.9e-4 |
SMART |
LRR
|
333 |
358 |
1.26e1 |
SMART |
LRR
|
359 |
382 |
2.82e0 |
SMART |
LRR
|
407 |
429 |
1.53e2 |
SMART |
LRR_TYP
|
430 |
453 |
7.37e-4 |
SMART |
LRR
|
475 |
500 |
1.66e1 |
SMART |
LRR
|
501 |
522 |
1.29e1 |
SMART |
LRR_TYP
|
523 |
545 |
7.67e-2 |
SMART |
low complexity region
|
594 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106709
AA Change: D211G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102320 Gene: ENSMUSG00000028600 AA Change: D211G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
LRRNT
|
68 |
101 |
4.34e-5 |
SMART |
LRR_TYP
|
120 |
145 |
2.05e-2 |
SMART |
LRR
|
146 |
169 |
1.19e1 |
SMART |
LRR
|
192 |
216 |
2.84e1 |
SMART |
LRR
|
239 |
261 |
6.22e0 |
SMART |
LRR
|
262 |
287 |
3.47e0 |
SMART |
LRR_TYP
|
288 |
311 |
7.9e-4 |
SMART |
LRR
|
333 |
358 |
1.26e1 |
SMART |
LRR
|
359 |
382 |
2.82e0 |
SMART |
LRR
|
407 |
429 |
1.53e2 |
SMART |
LRR_TYP
|
430 |
453 |
7.37e-4 |
SMART |
LRR
|
475 |
500 |
1.66e1 |
SMART |
LRR
|
501 |
522 |
1.29e1 |
SMART |
LRR_TYP
|
523 |
545 |
7.67e-2 |
SMART |
low complexity region
|
594 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124265
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130026
|
SMART Domains |
Protein: ENSMUSP00000123184 Gene: ENSMUSG00000028600
Domain | Start | End | E-Value | Type |
LRR
|
27 |
49 |
1.53e2 |
SMART |
LRR_TYP
|
50 |
73 |
7.37e-4 |
SMART |
LRR
|
95 |
120 |
1.66e1 |
SMART |
LRR
|
121 |
139 |
3.09e2 |
SMART |
low complexity region
|
188 |
203 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145491
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146851
AA Change: D66G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121478 Gene: ENSMUSG00000028600 AA Change: D66G
Domain | Start | End | E-Value | Type |
LRR
|
1 |
24 |
1.19e1 |
SMART |
LRR
|
47 |
71 |
2.84e1 |
SMART |
LRR
|
94 |
116 |
6.22e0 |
SMART |
LRR
|
117 |
142 |
3.47e0 |
SMART |
LRR_TYP
|
143 |
166 |
7.9e-4 |
SMART |
LRR
|
188 |
213 |
1.26e1 |
SMART |
LRR
|
214 |
237 |
2.82e0 |
SMART |
LRR
|
262 |
284 |
1.53e2 |
SMART |
LRR_TYP
|
285 |
308 |
7.37e-4 |
SMART |
low complexity region
|
319 |
334 |
N/A |
INTRINSIC |
low complexity region
|
359 |
364 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147597
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer1 |
T |
C |
17: 57,265,423 (GRCm39) |
I135M |
probably benign |
Het |
Ano7 |
A |
G |
1: 93,308,158 (GRCm39) |
E63G |
possibly damaging |
Het |
Asah1 |
A |
G |
8: 41,796,765 (GRCm39) |
|
probably null |
Het |
B3gat2 |
C |
T |
1: 23,801,873 (GRCm39) |
P53L |
probably benign |
Het |
Bmp8b |
A |
T |
4: 123,016,815 (GRCm39) |
M339L |
possibly damaging |
Het |
Bpifb9b |
C |
A |
2: 154,155,574 (GRCm39) |
Q358K |
probably benign |
Het |
Cbs |
T |
C |
17: 31,843,238 (GRCm39) |
D231G |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,825,673 (GRCm39) |
Y1144H |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,519,685 (GRCm39) |
I230L |
probably benign |
Het |
Clec2d |
A |
T |
6: 129,161,831 (GRCm39) |
T155S |
possibly damaging |
Het |
Cpxm1 |
G |
T |
2: 130,235,117 (GRCm39) |
F567L |
probably damaging |
Het |
Cyp4f16 |
G |
T |
17: 32,756,078 (GRCm39) |
A36S |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,993,235 (GRCm39) |
|
probably benign |
Het |
Eml5 |
T |
C |
12: 98,791,676 (GRCm39) |
D1280G |
probably damaging |
Het |
Ergic1 |
C |
A |
17: 26,860,566 (GRCm39) |
A218D |
possibly damaging |
Het |
Eva1a |
A |
G |
6: 82,068,894 (GRCm39) |
R74G |
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,637,628 (GRCm39) |
S224P |
probably damaging |
Het |
Fus |
T |
A |
7: 127,576,400 (GRCm39) |
N273K |
probably damaging |
Het |
Ipo13 |
A |
C |
4: 117,762,100 (GRCm39) |
|
probably null |
Het |
Itgb3 |
T |
A |
11: 104,531,812 (GRCm39) |
|
probably null |
Het |
Lrif1 |
T |
A |
3: 106,641,874 (GRCm39) |
S63R |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
T |
2: 41,174,177 (GRCm39) |
N1547K |
probably benign |
Het |
Mme |
A |
T |
3: 63,287,713 (GRCm39) |
N738I |
possibly damaging |
Het |
Morc2a |
A |
G |
11: 3,633,919 (GRCm39) |
N677S |
probably benign |
Het |
Mrpl35 |
A |
C |
6: 71,794,723 (GRCm39) |
L82V |
probably benign |
Het |
Mybpc1 |
A |
T |
10: 88,391,557 (GRCm39) |
N313K |
probably damaging |
Het |
Ptpru |
A |
T |
4: 131,548,124 (GRCm39) |
N52K |
probably damaging |
Het |
Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
Qser1 |
A |
G |
2: 104,619,358 (GRCm39) |
S485P |
probably damaging |
Het |
Rbm46 |
A |
T |
3: 82,771,351 (GRCm39) |
D421E |
probably benign |
Het |
Rgs10 |
T |
C |
7: 127,990,761 (GRCm39) |
E109G |
probably damaging |
Het |
Samd8 |
C |
T |
14: 21,825,388 (GRCm39) |
P178S |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,318,404 (GRCm39) |
K387E |
probably damaging |
Het |
Sccpdh |
G |
T |
1: 179,498,171 (GRCm39) |
V72F |
possibly damaging |
Het |
Sec22a |
A |
T |
16: 35,134,527 (GRCm39) |
V285E |
probably damaging |
Het |
Slc19a3 |
A |
G |
1: 83,000,664 (GRCm39) |
S118P |
probably damaging |
Het |
Sun1 |
C |
A |
5: 139,216,974 (GRCm39) |
R338S |
probably benign |
Het |
Taf1c |
A |
G |
8: 120,325,417 (GRCm39) |
F815S |
probably benign |
Het |
Zcchc14 |
A |
T |
8: 122,332,167 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Podn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00963:Podn
|
APN |
4 |
107,879,371 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01569:Podn
|
APN |
4 |
107,881,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02950:Podn
|
APN |
4 |
107,875,048 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0119:Podn
|
UTSW |
4 |
107,878,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R0196:Podn
|
UTSW |
4 |
107,878,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0499:Podn
|
UTSW |
4 |
107,878,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R1539:Podn
|
UTSW |
4 |
107,878,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R1705:Podn
|
UTSW |
4 |
107,875,055 (GRCm39) |
missense |
probably benign |
0.24 |
R2018:Podn
|
UTSW |
4 |
107,880,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R2120:Podn
|
UTSW |
4 |
107,880,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Podn
|
UTSW |
4 |
107,878,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R2170:Podn
|
UTSW |
4 |
107,879,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R2384:Podn
|
UTSW |
4 |
107,879,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R4285:Podn
|
UTSW |
4 |
107,878,893 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4606:Podn
|
UTSW |
4 |
107,875,064 (GRCm39) |
missense |
probably benign |
0.07 |
R5051:Podn
|
UTSW |
4 |
107,872,043 (GRCm39) |
missense |
probably benign |
0.15 |
R5945:Podn
|
UTSW |
4 |
107,878,910 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6317:Podn
|
UTSW |
4 |
107,884,357 (GRCm39) |
missense |
probably damaging |
0.99 |
R6366:Podn
|
UTSW |
4 |
107,876,001 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6830:Podn
|
UTSW |
4 |
107,878,614 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6983:Podn
|
UTSW |
4 |
107,881,470 (GRCm39) |
splice site |
probably null |
|
R7325:Podn
|
UTSW |
4 |
107,874,899 (GRCm39) |
splice site |
probably null |
|
R7456:Podn
|
UTSW |
4 |
107,875,002 (GRCm39) |
missense |
probably benign |
0.05 |
R7516:Podn
|
UTSW |
4 |
107,879,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R9047:Podn
|
UTSW |
4 |
107,878,743 (GRCm39) |
missense |
probably damaging |
0.99 |
R9048:Podn
|
UTSW |
4 |
107,878,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R9495:Podn
|
UTSW |
4 |
107,876,106 (GRCm39) |
missense |
probably benign |
|
R9657:Podn
|
UTSW |
4 |
107,884,231 (GRCm39) |
missense |
probably damaging |
0.98 |
X0004:Podn
|
UTSW |
4 |
107,878,764 (GRCm39) |
missense |
probably benign |
0.39 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCGATTCACACAGCATC -3'
(R):5'- CAGTGTCCCTGGGTTAAGAGAG -3'
Sequencing Primer
(F):5'- GATTCACACAGCATCCCCACG -3'
(R):5'- GTAGAAAAGTAGCCTGGTCCCTAC -3'
|
Posted On |
2014-10-02 |