Incidental Mutation 'R1705:Podn'
| ID |
190006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Podn
|
| Ensembl Gene |
ENSMUSG00000028600 |
| Gene Name |
podocan |
| Synonyms |
SLRR5A |
| MMRRC Submission |
039738-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1705 (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 107875055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 164
(R164G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044248]
[ENSMUST00000106708]
[ENSMUST00000106709]
[ENSMUST00000106713]
[ENSMUST00000146851]
|
| AlphaFold |
Q7TQ62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044248
AA Change: R571G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048962
Gene: ENSMUSG00000028600
AA Change: R571G
| 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
AA Change: R571G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102319
Gene: ENSMUSG00000028600
AA Change: R571G
| 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
AA Change: R571G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102320
Gene: ENSMUSG00000028600
AA Change: R571G
| 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
AA Change: R164G
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123184
Gene: ENSMUSG00000028600
AA Change: R164G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121478
Gene: ENSMUSG00000028600
| 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 |
0.0643 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
90% (43/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,903,133 (GRCm39) |
|
probably benign |
Het |
| C1ql2 |
A |
G |
1: 120,270,271 (GRCm39) |
T278A |
probably damaging |
Het |
| Card14 |
A |
G |
11: 119,229,232 (GRCm39) |
H714R |
possibly damaging |
Het |
| Catsperd |
T |
C |
17: 56,940,521 (GRCm39) |
F69S |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,805,706 (GRCm39) |
E105G |
probably damaging |
Het |
| Coil |
A |
G |
11: 88,864,962 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cox14 |
A |
G |
15: 99,625,559 (GRCm39) |
|
probably null |
Het |
| Defa24 |
T |
C |
8: 22,224,617 (GRCm39) |
I22T |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,045,059 (GRCm39) |
Y2116H |
possibly damaging |
Het |
| Faf1 |
C |
T |
4: 109,534,199 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,436,167 (GRCm39) |
S1026G |
probably benign |
Het |
| Hgf |
A |
T |
5: 16,820,800 (GRCm39) |
H649L |
probably benign |
Het |
| Hmces |
T |
C |
6: 87,910,283 (GRCm39) |
V231A |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,632,598 (GRCm39) |
V963A |
probably benign |
Het |
| Ltbp1 |
T |
C |
17: 75,692,196 (GRCm39) |
|
probably null |
Het |
| Meox2 |
G |
A |
12: 37,217,493 (GRCm39) |
|
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,196,113 (GRCm39) |
S550R |
probably benign |
Het |
| Nap1l4 |
A |
T |
7: 143,095,497 (GRCm39) |
M1K |
probably null |
Het |
| Nav1 |
G |
T |
1: 135,512,337 (GRCm39) |
T241N |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,454,264 (GRCm39) |
W2694R |
probably damaging |
Het |
| Or11g2 |
A |
T |
14: 50,856,579 (GRCm39) |
H300L |
probably benign |
Het |
| Or2b6 |
C |
A |
13: 21,823,331 (GRCm39) |
D121Y |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,855 (GRCm39) |
I194F |
possibly damaging |
Het |
| Phaf1 |
T |
C |
8: 105,965,104 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
G |
A |
3: 28,125,426 (GRCm39) |
|
probably null |
Het |
| Qrfprl |
A |
T |
6: 65,433,290 (GRCm39) |
H370L |
probably benign |
Het |
| R3hdm1 |
T |
A |
1: 128,162,821 (GRCm39) |
L966Q |
probably damaging |
Het |
| Rasef |
A |
T |
4: 73,662,301 (GRCm39) |
Y369* |
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,777,989 (GRCm39) |
V2176E |
probably damaging |
Het |
| Sec14l2 |
A |
G |
11: 4,053,980 (GRCm39) |
L229P |
possibly damaging |
Het |
| Sec23a |
T |
C |
12: 59,048,652 (GRCm39) |
S157G |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,346,814 (GRCm39) |
W219R |
probably damaging |
Het |
| Smarcad1 |
G |
A |
6: 65,033,400 (GRCm39) |
E128K |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,400,318 (GRCm39) |
N381I |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,180,356 (GRCm39) |
Y264H |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,607,066 (GRCm39) |
I3987N |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,643,738 (GRCm39) |
S4367T |
probably benign |
Het |
| Vdr |
A |
T |
15: 97,765,052 (GRCm39) |
V229D |
probably damaging |
Het |
| Ywhaz |
G |
T |
15: 36,790,959 (GRCm39) |
T88K |
possibly damaging |
Het |
| Zc3h10 |
A |
T |
10: 128,380,672 (GRCm39) |
C228* |
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 |
|
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 |
|
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'- ACACCTCACATGGTGCAATCCTG -3'
(R):5'- GGAGACATTCCTTGCCTTTGCCAC -3'
Sequencing Primer
(F):5'- TGAAGTTGACACACAGAAAGCC -3'
(R):5'- AACGGTGTCCTGACAGATCTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation