Incidental Mutation 'R2384:Podn'
| ID |
247634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Podn
|
| Ensembl Gene |
ENSMUSG00000028600 |
| Gene Name |
podocan |
| Synonyms |
SLRR5A |
| MMRRC Submission |
040358-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
107871990-107889151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107879269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 283
(E283G)
|
| 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: E283G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048962
Gene: ENSMUSG00000028600
AA Change: E283G
| 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: E283G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102319
Gene: ENSMUSG00000028600
AA Change: E283G
| 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: E283G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102320
Gene: ENSMUSG00000028600
AA Change: E283G
| 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: 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: E138G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121478
Gene: ENSMUSG00000028600
AA Change: E138G
| 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
|
| Meta Mutation Damage Score |
0.0982 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4933414I15Rik |
A |
G |
11: 50,833,333 (GRCm39) |
S90P |
unknown |
Het |
| Abca13 |
T |
C |
11: 9,217,450 (GRCm39) |
|
probably benign |
Het |
| Chpf |
C |
T |
1: 75,451,753 (GRCm39) |
R567H |
probably benign |
Het |
| Cnp |
A |
G |
11: 100,467,279 (GRCm39) |
Y74C |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,406 (GRCm39) |
V273D |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,951,591 (GRCm39) |
Y656C |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,470,288 (GRCm39) |
E107V |
possibly damaging |
Het |
| Fscn2 |
T |
C |
11: 120,257,559 (GRCm39) |
S307P |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,936 (GRCm39) |
E62G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,912,207 (GRCm39) |
Y394C |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,306 (GRCm39) |
I314T |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,863,964 (GRCm39) |
I293L |
probably benign |
Het |
| Il36g |
A |
G |
2: 24,082,660 (GRCm39) |
H145R |
probably benign |
Het |
| Ints12 |
T |
A |
3: 132,814,864 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,558,976 (GRCm39) |
S369G |
probably damaging |
Het |
| Klrh1 |
T |
A |
6: 129,749,343 (GRCm39) |
H84L |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,753,261 (GRCm39) |
|
probably null |
Het |
| Nlrp4g |
A |
G |
9: 124,349,707 (GRCm38) |
|
noncoding transcript |
Het |
| Obscn |
A |
G |
11: 58,933,663 (GRCm39) |
|
probably null |
Het |
| Ogdh |
C |
A |
11: 6,292,526 (GRCm39) |
A413D |
probably damaging |
Het |
| Ripk1 |
A |
G |
13: 34,214,026 (GRCm39) |
D456G |
probably benign |
Het |
| Saxo4 |
A |
C |
19: 10,458,646 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
C |
9: 75,573,008 (GRCm39) |
T308A |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,878,344 (GRCm39) |
T228A |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,393 (GRCm39) |
E138G |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,630,204 (GRCm39) |
V104A |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,709,852 (GRCm39) |
R479W |
probably damaging |
Het |
| Trim26 |
C |
T |
17: 37,161,781 (GRCm39) |
P67S |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,378 (GRCm39) |
Y787C |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,424,074 (GRCm39) |
V1447D |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,199 (GRCm39) |
A527T |
probably damaging |
Het |
| Ucp2 |
A |
G |
7: 100,147,461 (GRCm39) |
I172V |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,749,220 (GRCm39) |
Y903N |
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 |
|
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'- GACTTGTTCCCAGAGACAGAAATAG -3'
(R):5'- AGATGCTCAGGTCTGACTCC -3'
Sequencing Primer
(F):5'- GTTCCCAGAGACAGAAATAGCAACAG -3'
(R):5'- GGTCTGACTCCCCTCCTGGTAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation