Incidental Mutation 'R9419:Ptchd3'
| ID |
712242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptchd3
|
| Ensembl Gene |
ENSMUSG00000039198 |
| Gene Name |
patched domain containing 3 |
| Synonyms |
4930451E13Rik, 4933440L20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
121721073-121734249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121732356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 415
(M415I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036690]
|
| AlphaFold |
Q0EEE2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036690
AA Change: M415I
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035709
Gene: ENSMUSG00000039198
AA Change: M415I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patched
|
121 |
906 |
1.2e-177 |
PFAM |
|
Pfam:Sterol-sensing
|
363 |
508 |
3.4e-41 |
PFAM |
|
| Meta Mutation Damage Score |
0.2679 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,682,685 (GRCm39) |
T30A |
unknown |
Het |
| Abca12 |
A |
G |
1: 71,342,649 (GRCm39) |
Y944H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,656,887 (GRCm39) |
N2869S |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,574,825 (GRCm39) |
Q140K |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,384,923 (GRCm39) |
M189K |
probably benign |
Het |
| Atp2b1 |
G |
T |
10: 98,837,178 (GRCm39) |
R539L |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,845,304 (GRCm39) |
S152P |
|
Het |
| Catsperd |
A |
T |
17: 56,958,821 (GRCm39) |
I276L |
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,967,861 (GRCm39) |
V460A |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,096,935 (GRCm39) |
I1388V |
probably benign |
Het |
| Cd40 |
A |
T |
2: 164,904,162 (GRCm39) |
|
probably benign |
Het |
| Cdk11b |
A |
T |
4: 155,724,302 (GRCm39) |
T307S |
unknown |
Het |
| Chfr |
C |
T |
5: 110,317,056 (GRCm39) |
T643I |
probably damaging |
Het |
| Cnbd1 |
T |
C |
4: 19,098,156 (GRCm39) |
Q88R |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Ghdc |
G |
T |
11: 100,661,081 (GRCm39) |
A28D |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,540 (GRCm39) |
H693R |
possibly damaging |
Het |
| H2-M1 |
G |
T |
17: 36,981,231 (GRCm39) |
A268E |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,528,935 (GRCm39) |
N557D |
probably benign |
Het |
| Ighg2c |
A |
G |
12: 113,251,015 (GRCm39) |
|
probably benign |
Het |
| Il17ra |
C |
A |
6: 120,458,255 (GRCm39) |
Q469K |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,686,064 (GRCm39) |
N809Y |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,256,435 (GRCm39) |
Q73L |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,356,959 (GRCm39) |
V3A |
unknown |
Het |
| Map3k9 |
T |
C |
12: 81,827,341 (GRCm39) |
Y103C |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,029 (GRCm39) |
S298P |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,243,451 (GRCm39) |
N1254K |
probably damaging |
Het |
| Nap1l5 |
T |
A |
6: 58,883,952 (GRCm39) |
M1L |
probably benign |
Het |
| Nfxl1 |
G |
A |
5: 72,716,641 (GRCm39) |
|
probably benign |
Het |
| Nmd3 |
T |
C |
3: 69,643,349 (GRCm39) |
I227T |
probably benign |
Het |
| Or8c10 |
T |
G |
9: 38,279,162 (GRCm39) |
C97G |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rab28 |
A |
T |
5: 41,793,182 (GRCm39) |
S154R |
possibly damaging |
Het |
| Rin1 |
A |
G |
19: 5,103,735 (GRCm39) |
E567G |
probably damaging |
Het |
| Rrbp1 |
A |
C |
2: 143,811,436 (GRCm39) |
V806G |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,679,901 (GRCm39) |
L326Q |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,149,315 (GRCm39) |
T296A |
probably damaging |
Het |
| Skint10 |
G |
A |
4: 112,572,981 (GRCm39) |
L272F |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,811,967 (GRCm39) |
Q815R |
probably benign |
Het |
| Stat3 |
A |
G |
11: 100,780,357 (GRCm39) |
M735T |
possibly damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,738 (GRCm39) |
I576T |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,927,755 (GRCm39) |
Q619R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,155,071 (GRCm39) |
K5623E |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,387,036 (GRCm39) |
V165A |
possibly damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,573,716 (GRCm39) |
D165E |
probably benign |
Het |
| Tex2 |
G |
A |
11: 106,457,835 (GRCm39) |
Q532* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,564,125 (GRCm39) |
E1245G |
probably damaging |
Het |
|
| Other mutations in Ptchd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Ptchd3
|
APN |
11 |
121,721,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Ptchd3
|
APN |
11 |
121,721,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02815:Ptchd3
|
APN |
11 |
121,732,430 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4418001:Ptchd3
|
UTSW |
11 |
121,732,566 (GRCm39) |
nonsense |
probably null |
|
|
PIT4791001:Ptchd3
|
UTSW |
11 |
121,722,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0018:Ptchd3
|
UTSW |
11 |
121,733,170 (GRCm39) |
missense |
probably benign |
|
|
R0068:Ptchd3
|
UTSW |
11 |
121,733,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Ptchd3
|
UTSW |
11 |
121,733,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Ptchd3
|
UTSW |
11 |
121,732,916 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0331:Ptchd3
|
UTSW |
11 |
121,733,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0715:Ptchd3
|
UTSW |
11 |
121,721,984 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1200:Ptchd3
|
UTSW |
11 |
121,722,087 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1595:Ptchd3
|
UTSW |
11 |
121,721,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Ptchd3
|
UTSW |
11 |
121,733,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1792:Ptchd3
|
UTSW |
11 |
121,732,377 (GRCm39) |
nonsense |
probably null |
|
|
R2098:Ptchd3
|
UTSW |
11 |
121,733,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4120:Ptchd3
|
UTSW |
11 |
121,721,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4533:Ptchd3
|
UTSW |
11 |
121,727,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Ptchd3
|
UTSW |
11 |
121,727,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4761:Ptchd3
|
UTSW |
11 |
121,727,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4868:Ptchd3
|
UTSW |
11 |
121,721,883 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4948:Ptchd3
|
UTSW |
11 |
121,733,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Ptchd3
|
UTSW |
11 |
121,721,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5954:Ptchd3
|
UTSW |
11 |
121,727,413 (GRCm39) |
intron |
probably benign |
|
|
R6199:Ptchd3
|
UTSW |
11 |
121,721,908 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6431:Ptchd3
|
UTSW |
11 |
121,727,229 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6484:Ptchd3
|
UTSW |
11 |
121,733,764 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7936:Ptchd3
|
UTSW |
11 |
121,721,939 (GRCm39) |
nonsense |
probably null |
|
|
R8120:Ptchd3
|
UTSW |
11 |
121,733,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8311:Ptchd3
|
UTSW |
11 |
121,727,299 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9004:Ptchd3
|
UTSW |
11 |
121,732,687 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9026:Ptchd3
|
UTSW |
11 |
121,721,682 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9091:Ptchd3
|
UTSW |
11 |
121,733,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Ptchd3
|
UTSW |
11 |
121,721,741 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9261:Ptchd3
|
UTSW |
11 |
121,722,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9270:Ptchd3
|
UTSW |
11 |
121,733,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9412:Ptchd3
|
UTSW |
11 |
121,732,779 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9435:Ptchd3
|
UTSW |
11 |
121,721,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9491:Ptchd3
|
UTSW |
11 |
121,733,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ptchd3
|
UTSW |
11 |
121,727,302 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTATGTACAGAGCTGAGACTTC -3'
(R):5'- TAGCAAAAGAGCAGGGTTGTTC -3'
Sequencing Primer
(F):5'- GTACAGAGCTGAGACTTCTTACAG -3'
(R):5'- CAGGGTTGTTCCTGTATAGATGC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation