Incidental Mutation 'R1200:Ptchd3'
| ID |
101313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptchd3
|
| Ensembl Gene |
ENSMUSG00000039198 |
| Gene Name |
patched domain containing 3 |
| Synonyms |
4930451E13Rik, 4933440L20Rik |
| MMRRC Submission |
039270-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
121721073-121734249 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 121722087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036690]
|
| AlphaFold |
Q0EEE2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036690
|
| SMART Domains |
Protein: ENSMUSP00000035709
Gene: ENSMUSG00000039198
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patched
|
121 |
906 |
1.2e-177 |
PFAM |
|
Pfam:Sterol-sensing
|
363 |
508 |
3.4e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126556
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
| Acat1 |
T |
A |
9: 53,494,810 (GRCm39) |
I361F |
possibly damaging |
Het |
| Akp3 |
T |
A |
1: 87,052,982 (GRCm39) |
I57N |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Axin2 |
C |
A |
11: 108,822,376 (GRCm39) |
D309E |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,436,129 (GRCm39) |
P207T |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,107,626 (GRCm39) |
A1212E |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,246,403 (GRCm39) |
I580M |
possibly damaging |
Het |
| Dpp3 |
T |
C |
19: 4,973,157 (GRCm39) |
T146A |
probably benign |
Het |
| Fam227a |
A |
G |
15: 79,496,738 (GRCm39) |
F613S |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,594 (GRCm39) |
D503G |
probably damaging |
Het |
| Flot2 |
C |
T |
11: 77,945,631 (GRCm39) |
T2M |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,393,406 (GRCm39) |
L4095S |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,607,739 (GRCm39) |
Y614C |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,466,742 (GRCm39) |
F616L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,916,882 (GRCm39) |
Y401N |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,057,657 (GRCm39) |
Y6144C |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,178 (GRCm39) |
F308L |
probably damaging |
Het |
| Ntn5 |
G |
T |
7: 45,341,806 (GRCm39) |
V309L |
possibly damaging |
Het |
| Or51aa2 |
T |
A |
7: 103,188,274 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,477 (GRCm39) |
L51Q |
probably damaging |
Het |
| Pex1 |
G |
A |
5: 3,656,411 (GRCm39) |
|
probably null |
Het |
| Pld1 |
A |
T |
3: 28,103,435 (GRCm39) |
D380V |
probably damaging |
Het |
| Prdm1 |
A |
G |
10: 44,326,126 (GRCm39) |
Y148H |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,705,163 (GRCm39) |
T689I |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Twf1 |
A |
T |
15: 94,484,239 (GRCm39) |
H94Q |
probably benign |
Het |
| Vmn2r13 |
T |
G |
5: 109,322,068 (GRCm39) |
I210L |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,370,675 (GRCm39) |
E402G |
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 |
|
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'- GCATAACTCGTCGTTGAACCTGTCG -3'
(R):5'- GGGATTGCTGGCCCAGAGATTTATC -3'
Sequencing Primer
(F):5'- CAGCTCATCTACTTAGCGGG -3'
(R):5'- GGCCCAGAGATTTATCAGACAATATG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation