Incidental Mutation 'R9048:Podn'
| ID |
688172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Podn
|
| Ensembl Gene |
ENSMUSG00000028600 |
| Gene Name |
podocan |
| Synonyms |
SLRR5A |
| MMRRC Submission |
068874-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
107871990-107889151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 107878596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 424
(R424G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044248]
[ENSMUST00000106708]
[ENSMUST00000106709]
[ENSMUST00000146851]
|
| AlphaFold |
Q7TQ62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044248
AA Change: R424G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048962
Gene: ENSMUSG00000028600
AA Change: R424G
| 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: R424G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102319
Gene: ENSMUSG00000028600
AA Change: R424G
| 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: R424G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102320
Gene: ENSMUSG00000028600
AA Change: R424G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123184
Gene: ENSMUSG00000028600
AA Change: R43G
| 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 |
probably damaging
Transcript: ENSMUST00000146851
AA Change: R279G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121478
Gene: ENSMUSG00000028600
AA Change: R279G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl |
A |
T |
16: 45,974,558 (GRCm39) |
V273D |
probably damaging |
Het |
| Als2 |
C |
T |
1: 59,225,670 (GRCm39) |
V947M |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,065,926 (GRCm39) |
S67P |
|
Het |
| Bmp6 |
C |
T |
13: 38,682,778 (GRCm39) |
T453I |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,853,872 (GRCm39) |
K1092R |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,989,695 (GRCm39) |
D407G |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,207,259 (GRCm39) |
H1887N |
unknown |
Het |
| Cldn10 |
G |
A |
14: 119,025,656 (GRCm39) |
V30M |
probably damaging |
Het |
| Col4a1 |
T |
A |
8: 11,281,944 (GRCm39) |
|
probably benign |
Het |
| Cyria |
G |
A |
12: 12,412,286 (GRCm39) |
A183T |
probably damaging |
Het |
| Dmac2l |
C |
T |
12: 69,787,752 (GRCm39) |
R63C |
probably damaging |
Het |
| Enpp7 |
A |
G |
11: 118,881,455 (GRCm39) |
H200R |
probably damaging |
Het |
| Entrep3 |
T |
C |
3: 89,093,048 (GRCm39) |
Y269H |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,517,218 (GRCm39) |
A82V |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,284,935 (GRCm39) |
H672R |
possibly damaging |
Het |
| Glce |
A |
T |
9: 61,967,413 (GRCm39) |
Y579* |
probably null |
Het |
| Gm9507 |
G |
A |
10: 77,647,245 (GRCm39) |
P145S |
unknown |
Het |
| Igf2 |
A |
T |
7: 142,207,759 (GRCm39) |
F113I |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,441 (GRCm39) |
S90G |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,854,854 (GRCm39) |
I2002T |
possibly damaging |
Het |
| Kng2 |
G |
A |
16: 22,806,522 (GRCm39) |
T559I |
probably benign |
Het |
| Leng8 |
A |
G |
7: 4,146,931 (GRCm39) |
|
probably benign |
Het |
| Lpcat2 |
G |
T |
8: 93,635,878 (GRCm39) |
A427S |
probably benign |
Het |
| Mapk14 |
A |
G |
17: 28,947,358 (GRCm39) |
T175A |
probably benign |
Het |
| Mei1 |
C |
A |
15: 81,969,036 (GRCm39) |
S329* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,854,768 (GRCm39) |
I20T |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,678,331 (GRCm39) |
N665S |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,750,612 (GRCm39) |
Q177L |
probably benign |
Het |
| Nkx6-2 |
A |
G |
7: 139,161,876 (GRCm39) |
F167S |
probably damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,929 (GRCm39) |
V189A |
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,584 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or2t26 |
G |
A |
11: 49,039,830 (GRCm39) |
V249I |
probably damaging |
Het |
| Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
| Or55b3 |
A |
T |
7: 102,126,684 (GRCm39) |
I131N |
probably damaging |
Het |
| Or5h18 |
G |
A |
16: 58,847,598 (GRCm39) |
T224I |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,340,515 (GRCm39) |
V633A |
probably damaging |
Het |
| Phyh |
A |
T |
2: 4,932,249 (GRCm39) |
M112L |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Pkn1 |
G |
A |
8: 84,424,663 (GRCm39) |
R11C |
possibly damaging |
Het |
| Ptdss2 |
A |
G |
7: 140,732,797 (GRCm39) |
D222G |
probably damaging |
Het |
| Ryk |
A |
T |
9: 102,774,468 (GRCm39) |
M401L |
probably benign |
Het |
| Sec61g |
A |
G |
11: 16,458,129 (GRCm39) |
V22A |
probably benign |
Het |
| Septin8 |
A |
G |
11: 53,427,530 (GRCm39) |
N250D |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,003 (GRCm39) |
L7P |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,032,620 (GRCm39) |
D1188G |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,465 (GRCm39) |
T1271M |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,508,415 (GRCm39) |
L241H |
probably damaging |
Het |
| Stx8 |
A |
G |
11: 67,902,211 (GRCm39) |
T132A |
probably damaging |
Het |
| Stxbp2 |
A |
G |
8: 3,687,218 (GRCm39) |
I403V |
|
Het |
| Stxbp3 |
A |
T |
3: 108,723,704 (GRCm39) |
M177K |
probably benign |
Het |
| Supt16 |
T |
A |
14: 52,418,513 (GRCm39) |
Q248L |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,356,122 (GRCm39) |
L596F |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,580,686 (GRCm39) |
M1V |
probably null |
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 |
|
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 |
|
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'- TAGTACCTGCAGACCAGCAAGG -3'
(R):5'- TACAACAACGCGCTGGAACG -3'
Sequencing Primer
(F):5'- CCTGTGAGGTAGAGTTCCCGAAG -3'
(R):5'- TGGAACGTGTGCCCAGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation