Incidental Mutation 'R9771:Ptcd3'
| ID |
733440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptcd3
|
| Ensembl Gene |
ENSMUSG00000063884 |
| Gene Name |
pentatricopeptide repeat domain 3 |
| Synonyms |
2610034F17Rik, 2810422B04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9771 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
71857622-71885734 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 71872903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 263
(R263*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082094]
[ENSMUST00000206879]
|
| AlphaFold |
Q14C51 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000082094
AA Change: R263*
|
| SMART Domains |
Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
AA Change: R263*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
227 |
N/A |
INTRINSIC |
|
Pfam:PPR_2
|
253 |
300 |
1.4e-10 |
PFAM |
|
Pfam:PPR_3
|
331 |
366 |
2.1e-4 |
PFAM |
|
low complexity region
|
671 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205556
AA Change: R38*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206284
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206879
AA Change: R263*
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
G |
3: 146,356,743 (GRCm39) |
I55T |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,310 (GRCm39) |
T866A |
probably benign |
Het |
| Alg12 |
A |
T |
15: 88,700,373 (GRCm39) |
V21E |
probably damaging |
Het |
| Bod1l |
C |
A |
5: 41,949,206 (GRCm39) |
R2972L |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,129,693 (GRCm39) |
I568F |
probably benign |
Het |
| Ccdc89 |
A |
G |
7: 90,075,810 (GRCm39) |
T7A |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,573,517 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,855,031 (GRCm39) |
I297M |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,066,833 (GRCm39) |
E200G |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,537 (GRCm39) |
S1575P |
probably benign |
Het |
| Gm18596 |
A |
C |
10: 77,577,962 (GRCm39) |
S171A |
unknown |
Het |
| Gmip |
T |
A |
8: 70,266,718 (GRCm39) |
C278S |
probably benign |
Het |
| Gngt2 |
G |
T |
11: 95,728,124 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
G |
A |
10: 88,268,485 (GRCm39) |
D531N |
probably damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,719 (GRCm39) |
C726R |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,025,877 (GRCm39) |
I289T |
unknown |
Het |
| Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nol11 |
C |
A |
11: 107,069,914 (GRCm39) |
W312L |
probably damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,060 (GRCm39) |
Y272N |
possibly damaging |
Het |
| Or1p1c |
G |
A |
11: 74,160,635 (GRCm39) |
R140H |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 114,896,356 (GRCm39) |
R30Q |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,423,771 (GRCm39) |
L878P |
possibly damaging |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,358,883 (GRCm39) |
H364R |
probably benign |
Het |
| Polr1f |
A |
G |
12: 33,487,828 (GRCm39) |
T248A |
probably benign |
Het |
| Prss56 |
T |
C |
1: 87,113,365 (GRCm39) |
I231T |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,521,085 (GRCm39) |
I696F |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,082,624 (GRCm39) |
I1341F |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,613,207 (GRCm39) |
Y428C |
probably damaging |
Het |
| Sh3tc1 |
A |
C |
5: 35,873,654 (GRCm39) |
F217C |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,650,353 (GRCm39) |
T1788I |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,983,048 (GRCm39) |
P672L |
probably damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tada3 |
A |
C |
6: 113,349,319 (GRCm39) |
S244A |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,925,600 (GRCm39) |
I979F |
probably damaging |
Het |
| Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,657 (GRCm39) |
N73S |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,559 (GRCm39) |
E405G |
possibly damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,042,079 (GRCm39) |
H212R |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,000,195 (GRCm39) |
L3015P |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,206,851 (GRCm39) |
S255P |
probably damaging |
Het |
| Ypel3 |
T |
C |
7: 126,379,226 (GRCm39) |
Y100H |
probably damaging |
Het |
|
| Other mutations in Ptcd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Ptcd3
|
APN |
6 |
71,880,432 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00903:Ptcd3
|
APN |
6 |
71,884,828 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01545:Ptcd3
|
APN |
6 |
71,865,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01924:Ptcd3
|
APN |
6 |
71,875,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Ptcd3
|
APN |
6 |
71,860,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0732:Ptcd3
|
UTSW |
6 |
71,858,155 (GRCm39) |
unclassified |
probably benign |
|
|
R1374:Ptcd3
|
UTSW |
6 |
71,885,637 (GRCm39) |
nonsense |
probably null |
|
|
R1393:Ptcd3
|
UTSW |
6 |
71,866,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1498:Ptcd3
|
UTSW |
6 |
71,870,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Ptcd3
|
UTSW |
6 |
71,875,379 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1712:Ptcd3
|
UTSW |
6 |
71,885,637 (GRCm39) |
nonsense |
probably null |
|
|
R2022:Ptcd3
|
UTSW |
6 |
71,862,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2248:Ptcd3
|
UTSW |
6 |
71,871,269 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2406:Ptcd3
|
UTSW |
6 |
71,865,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3418:Ptcd3
|
UTSW |
6 |
71,860,470 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3419:Ptcd3
|
UTSW |
6 |
71,860,470 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4677:Ptcd3
|
UTSW |
6 |
71,870,498 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4741:Ptcd3
|
UTSW |
6 |
71,879,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4752:Ptcd3
|
UTSW |
6 |
71,878,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5441:Ptcd3
|
UTSW |
6 |
71,858,505 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5583:Ptcd3
|
UTSW |
6 |
71,879,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5681:Ptcd3
|
UTSW |
6 |
71,884,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Ptcd3
|
UTSW |
6 |
71,875,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Ptcd3
|
UTSW |
6 |
71,862,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6537:Ptcd3
|
UTSW |
6 |
71,874,094 (GRCm39) |
splice site |
probably null |
|
|
R6600:Ptcd3
|
UTSW |
6 |
71,860,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Ptcd3
|
UTSW |
6 |
71,885,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6810:Ptcd3
|
UTSW |
6 |
71,862,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6860:Ptcd3
|
UTSW |
6 |
71,874,094 (GRCm39) |
splice site |
probably null |
|
|
R6993:Ptcd3
|
UTSW |
6 |
71,862,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Ptcd3
|
UTSW |
6 |
71,885,691 (GRCm39) |
missense |
probably benign |
|
|
R7788:Ptcd3
|
UTSW |
6 |
71,862,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7851:Ptcd3
|
UTSW |
6 |
71,879,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7888:Ptcd3
|
UTSW |
6 |
71,860,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Ptcd3
|
UTSW |
6 |
71,865,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7919:Ptcd3
|
UTSW |
6 |
71,880,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8162:Ptcd3
|
UTSW |
6 |
71,884,798 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8351:Ptcd3
|
UTSW |
6 |
71,885,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8451:Ptcd3
|
UTSW |
6 |
71,885,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8701:Ptcd3
|
UTSW |
6 |
71,862,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8826:Ptcd3
|
UTSW |
6 |
71,885,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8926:Ptcd3
|
UTSW |
6 |
71,869,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8969:Ptcd3
|
UTSW |
6 |
71,880,431 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9031:Ptcd3
|
UTSW |
6 |
71,880,458 (GRCm39) |
nonsense |
probably null |
|
|
R9046:Ptcd3
|
UTSW |
6 |
71,870,364 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9384:Ptcd3
|
UTSW |
6 |
71,874,110 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9668:Ptcd3
|
UTSW |
6 |
71,871,275 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0024:Ptcd3
|
UTSW |
6 |
71,878,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Ptcd3
|
UTSW |
6 |
71,884,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGGCAGGACAGACAATTTC -3'
(R):5'- TTTGAGGTGATATGTACATTGCCC -3'
Sequencing Primer
(F):5'- GTATGCTCATCCATCCAGTTAAGG -3'
(R):5'- GAGGTGATATGTACATTGCCCAAAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation