Incidental Mutation 'R0068:Ptchd3'
| ID |
64430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptchd3
|
| Ensembl Gene |
ENSMUSG00000039198 |
| Gene Name |
patched domain containing 3 |
| Synonyms |
4930451E13Rik, 4933440L20Rik |
| MMRRC Submission |
038359-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0068 (G1)
|
| Quality Score |
121 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
121721073-121734249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 121733798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 896
(L896R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036690]
|
| AlphaFold |
Q0EEE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036690
AA Change: L896R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035709
Gene: ENSMUSG00000039198
AA Change: L896R
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 92.6%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,073,708 (GRCm39) |
T1448A |
probably damaging |
Het |
| Aldoart2 |
G |
T |
12: 55,612,233 (GRCm39) |
E53* |
probably null |
Het |
| Ankra2 |
C |
T |
13: 98,409,891 (GRCm39) |
Q137* |
probably null |
Het |
| Arpc1a |
C |
T |
5: 145,028,054 (GRCm39) |
T21I |
possibly damaging |
Het |
| Arvcf |
T |
C |
16: 18,214,819 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,914,624 (GRCm39) |
S1751R |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,006,370 (GRCm39) |
T1675A |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,989,336 (GRCm39) |
G2139C |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,717,629 (GRCm39) |
E530G |
probably benign |
Het |
| Cct3 |
A |
G |
3: 88,225,772 (GRCm39) |
D365G |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,134,282 (GRCm39) |
S688R |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,823,212 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ctbp2 |
A |
C |
7: 132,591,788 (GRCm39) |
V906G |
possibly damaging |
Het |
| Cwf19l1 |
A |
T |
19: 44,119,938 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,404,875 (GRCm39) |
M305L |
probably benign |
Het |
| Dnm1l |
C |
A |
16: 16,141,883 (GRCm39) |
G288C |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,611,648 (GRCm39) |
S497P |
probably benign |
Het |
| Fignl2 |
A |
T |
15: 100,952,129 (GRCm39) |
I51N |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,915,290 (GRCm38) |
N1474D |
possibly damaging |
Het |
| Ghrhr |
C |
T |
6: 55,357,849 (GRCm39) |
|
probably benign |
Het |
| Hltf |
G |
A |
3: 20,113,254 (GRCm39) |
R9H |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,426,466 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,323,034 (GRCm39) |
|
probably benign |
Het |
| Kansl1l |
A |
G |
1: 66,760,047 (GRCm39) |
V911A |
probably benign |
Het |
| Kdm3b |
C |
T |
18: 34,957,827 (GRCm39) |
T1064I |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,899,279 (GRCm39) |
Q1654L |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,666,404 (GRCm39) |
T1366A |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,330,892 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
| Napb |
G |
A |
2: 148,540,843 (GRCm39) |
|
probably benign |
Het |
| Npc1 |
G |
C |
18: 12,341,424 (GRCm39) |
P532A |
probably benign |
Het |
| Nrp2 |
G |
T |
1: 62,784,536 (GRCm39) |
K228N |
possibly damaging |
Het |
| Or13f5 |
T |
A |
4: 52,825,503 (GRCm39) |
Y35* |
probably null |
Het |
| Plekhg1 |
A |
T |
10: 3,890,504 (GRCm39) |
K241* |
probably null |
Het |
| Poln |
T |
C |
5: 34,234,432 (GRCm39) |
|
probably benign |
Het |
| Ppil1 |
A |
T |
17: 29,471,230 (GRCm39) |
F92I |
probably damaging |
Het |
| Ppp1r9b |
T |
G |
11: 94,892,046 (GRCm39) |
F154V |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,700,827 (GRCm39) |
N1775D |
possibly damaging |
Het |
| Rusc2 |
T |
C |
4: 43,424,100 (GRCm39) |
|
probably benign |
Het |
| Selenbp2 |
T |
C |
3: 94,610,816 (GRCm39) |
V294A |
probably benign |
Het |
| Slc25a48 |
T |
C |
13: 56,599,024 (GRCm39) |
V118A |
probably damaging |
Het |
| Slc38a10 |
T |
C |
11: 120,025,679 (GRCm39) |
D219G |
probably damaging |
Het |
| Slc38a2 |
C |
T |
15: 96,589,173 (GRCm39) |
|
probably null |
Het |
| Slc39a12 |
A |
G |
2: 14,440,489 (GRCm39) |
E480G |
probably benign |
Het |
| Tab2 |
C |
A |
10: 7,795,441 (GRCm39) |
R347L |
probably damaging |
Het |
| Tas2r123 |
T |
C |
6: 132,824,955 (GRCm39) |
I284T |
possibly damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,892,696 (GRCm39) |
D212E |
probably benign |
Het |
| Trim67 |
T |
C |
8: 125,521,307 (GRCm39) |
V223A |
probably damaging |
Het |
| Ugcg |
A |
G |
4: 59,217,130 (GRCm39) |
D218G |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,695,725 (GRCm39) |
L229S |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,816,706 (GRCm39) |
L198I |
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 |
|
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 |
|
R9419:Ptchd3
|
UTSW |
11 |
121,732,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- ACACATCTCCTATGCATTTGTTTCCAGT -3'
(R):5'- TGGGACTTCCAAGTCAAGGAAATGTC -3'
Sequencing Primer
(F):5'- AGTACTGAGCCTTCAGTCAAC -3'
(R):5'- ACAATGTGCCTTGTTTATATCCTAC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation