Incidental Mutation 'R5051:Podn'
ID |
394640 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Podn
|
Ensembl Gene |
ENSMUSG00000028600 |
Gene Name |
podocan |
Synonyms |
SLRR5A |
MMRRC Submission |
042641-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5051 (G1)
|
Quality Score |
211 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
107871990-107889151 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107872043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 400
(D400V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044248]
[ENSMUST00000106708]
[ENSMUST00000106709]
[ENSMUST00000106713]
[ENSMUST00000146851]
|
AlphaFold |
Q7TQ62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044248
|
SMART Domains |
Protein: ENSMUSP00000048962 Gene: ENSMUSG00000028600
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 benign
Transcript: ENSMUST00000106708
|
SMART Domains |
Protein: ENSMUSP00000102319 Gene: ENSMUSG00000028600
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 benign
Transcript: ENSMUST00000106709
|
SMART Domains |
Protein: ENSMUSP00000102320 Gene: ENSMUSG00000028600
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 benign
Transcript: ENSMUST00000106713
|
SMART Domains |
Protein: ENSMUSP00000102324 Gene: ENSMUSG00000008932
Domain | Start | End | E-Value | Type |
Pfam:SDF
|
29 |
485 |
1.9e-127 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124190
|
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 benign
Transcript: ENSMUST00000146851
AA Change: D400V
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000121478 Gene: ENSMUSG00000028600 AA Change: D400V
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
Validation Efficiency |
98% (62/63) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730522E02Rik |
G |
A |
11: 25,718,990 (GRCm39) |
T51I |
unknown |
Het |
Alms1 |
C |
T |
6: 85,604,916 (GRCm39) |
Q2189* |
probably null |
Het |
Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
Ap3d1 |
T |
G |
10: 80,555,033 (GRCm39) |
T431P |
probably damaging |
Het |
Arnt |
A |
G |
3: 95,377,648 (GRCm39) |
T125A |
probably benign |
Het |
Atp10a |
TGTCCGTC |
TGTC |
7: 58,389,994 (GRCm39) |
|
probably null |
Het |
Bscl2 |
A |
T |
19: 8,822,643 (GRCm39) |
R195* |
probably null |
Het |
Ccdc146 |
C |
T |
5: 21,508,081 (GRCm39) |
V656I |
possibly damaging |
Het |
Ccn6 |
A |
G |
10: 39,031,152 (GRCm39) |
F124L |
probably benign |
Het |
Ccr4 |
T |
C |
9: 114,321,714 (GRCm39) |
Y117C |
probably damaging |
Het |
Cd55 |
T |
A |
1: 130,376,085 (GRCm39) |
D355V |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,749,558 (GRCm39) |
I259N |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,793,020 (GRCm39) |
I252V |
possibly damaging |
Het |
Dmbt1 |
T |
C |
7: 130,696,472 (GRCm39) |
V895A |
probably benign |
Het |
Ect2 |
A |
G |
3: 27,156,635 (GRCm39) |
V775A |
probably benign |
Het |
Gm14486 |
T |
C |
2: 30,548,889 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,756,393 (GRCm39) |
N444S |
possibly damaging |
Het |
Heatr5b |
T |
C |
17: 79,102,703 (GRCm39) |
D1225G |
probably damaging |
Het |
Il1rl2 |
G |
A |
1: 40,382,254 (GRCm39) |
V189I |
probably benign |
Het |
Kif1a |
G |
A |
1: 93,003,876 (GRCm39) |
|
probably null |
Het |
Ltbr |
T |
A |
6: 125,289,733 (GRCm39) |
T154S |
probably damaging |
Het |
Mrgpra6 |
C |
T |
7: 46,835,690 (GRCm39) |
V244I |
probably benign |
Het |
Myo15a |
G |
A |
11: 60,378,251 (GRCm39) |
|
probably null |
Het |
Ndufs1 |
A |
G |
1: 63,204,106 (GRCm39) |
|
probably null |
Het |
Nectin3 |
A |
T |
16: 46,268,913 (GRCm39) |
N496K |
possibly damaging |
Het |
Nkd2 |
A |
G |
13: 73,973,195 (GRCm39) |
V147A |
probably benign |
Het |
Nlrp3 |
G |
C |
11: 59,457,025 (GRCm39) |
R1013P |
probably benign |
Het |
Or4d11 |
C |
A |
19: 12,013,288 (GRCm39) |
V273F |
possibly damaging |
Het |
Or4k36 |
T |
A |
2: 111,146,599 (GRCm39) |
Y258* |
probably null |
Het |
Pdk2 |
T |
C |
11: 94,919,598 (GRCm39) |
S263G |
probably benign |
Het |
Pla2g4e |
T |
A |
2: 120,004,785 (GRCm39) |
I520F |
probably damaging |
Het |
Plat |
A |
G |
8: 23,263,688 (GRCm39) |
T196A |
probably benign |
Het |
Poteg |
T |
C |
8: 27,943,357 (GRCm39) |
V147A |
possibly damaging |
Het |
Prkar2a |
A |
G |
9: 108,622,690 (GRCm39) |
N315D |
probably benign |
Het |
Rac2 |
A |
G |
15: 78,449,134 (GRCm39) |
I13T |
possibly damaging |
Het |
Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
Relch |
T |
A |
1: 105,619,711 (GRCm39) |
N313K |
possibly damaging |
Het |
Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
Supv3l1 |
A |
C |
10: 62,279,196 (GRCm39) |
I240S |
probably damaging |
Het |
Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
Tead4 |
A |
C |
6: 128,271,262 (GRCm39) |
|
probably benign |
Het |
Tex10 |
G |
A |
4: 48,460,019 (GRCm39) |
A444V |
possibly damaging |
Het |
Tgds |
A |
T |
14: 118,365,639 (GRCm39) |
I73K |
probably damaging |
Het |
Tmem117 |
C |
A |
15: 94,612,794 (GRCm39) |
T110K |
probably damaging |
Het |
Trim30a |
T |
A |
7: 104,060,913 (GRCm39) |
|
probably benign |
Het |
Unc80 |
C |
T |
1: 66,548,636 (GRCm39) |
T636I |
probably damaging |
Het |
Ybey |
G |
A |
10: 76,304,173 (GRCm39) |
R10W |
probably damaging |
Het |
Zap70 |
A |
G |
1: 36,820,532 (GRCm39) |
I576V |
probably benign |
Het |
Zfp64 |
T |
C |
2: 168,768,304 (GRCm39) |
D436G |
probably damaging |
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 |
R2200:Podn
|
UTSW |
4 |
107,879,787 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- TATTACGCACCAGGCCTTCC -3'
(R):5'- CTTTCAGAGAACAGCCTCAAGAAG -3'
Sequencing Primer
(F):5'- GTCTGTGCCACTCCCGTG -3'
(R):5'- GGCTTGGAAGAGAAAGAGGC -3'
|
Posted On |
2016-06-15 |