Incidental Mutation 'R9384:Ptcd3'
| ID |
710203 |
| 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 # |
R9384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
71857622-71885734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71874110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 234
(S234P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082094]
[ENSMUST00000206879]
|
| AlphaFold |
Q14C51 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082094
AA Change: S234P
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
AA Change: S234P
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206284
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206879
AA Change: S234P
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
G |
A |
4: 128,655,851 (GRCm39) |
C73Y |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,257,106 (GRCm39) |
A1213T |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,041,067 (GRCm39) |
L1079P |
probably damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,904,404 (GRCm39) |
V2374A |
unknown |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Coro6 |
A |
G |
11: 77,360,218 (GRCm39) |
E436G |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,087,920 (GRCm39) |
V352A |
probably benign |
Het |
| Dcbld2 |
C |
T |
16: 58,285,926 (GRCm39) |
T695I |
probably damaging |
Het |
| Dclk1 |
A |
C |
3: 55,154,936 (GRCm39) |
Q122P |
possibly damaging |
Het |
| Dsel |
C |
A |
1: 111,787,863 (GRCm39) |
E891* |
probably null |
Het |
| Eral1 |
A |
T |
11: 77,969,130 (GRCm39) |
N123K |
probably damaging |
Het |
| Fzd6 |
C |
A |
15: 38,895,102 (GRCm39) |
L423M |
probably damaging |
Het |
| Fzd6 |
T |
G |
15: 38,895,103 (GRCm39) |
L423R |
probably damaging |
Het |
| Galntl6 |
G |
T |
8: 58,415,461 (GRCm39) |
L231I |
probably damaging |
Het |
| Gm7137 |
A |
G |
10: 77,623,614 (GRCm39) |
S141P |
unknown |
Het |
| Grm5 |
T |
C |
7: 87,723,518 (GRCm39) |
Y603H |
probably damaging |
Het |
| Hcar2 |
A |
T |
5: 124,002,597 (GRCm39) |
F302Y |
probably benign |
Het |
| Hs3st1 |
T |
G |
5: 39,771,962 (GRCm39) |
D227A |
possibly damaging |
Het |
| Igkv7-33 |
G |
T |
6: 70,036,174 (GRCm39) |
Q4K |
possibly damaging |
Het |
| Itprid1 |
A |
T |
6: 55,952,613 (GRCm39) |
Q852L |
probably damaging |
Het |
| Kcp |
C |
T |
6: 29,496,618 (GRCm39) |
|
probably null |
Het |
| Lrrc23 |
T |
C |
6: 124,755,189 (GRCm39) |
K116R |
possibly damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,006,458 (GRCm39) |
R1222S |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,554,158 (GRCm39) |
I1735F |
probably damaging |
Het |
| Neto1 |
A |
T |
18: 86,413,965 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,258,158 (GRCm39) |
L592Q |
probably damaging |
Het |
| Or1e30 |
C |
A |
11: 73,677,796 (GRCm39) |
Q11K |
probably benign |
Het |
| Or5t7 |
T |
A |
2: 86,507,357 (GRCm39) |
T107S |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,024 (GRCm39) |
H183Q |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,112,448 (GRCm39) |
T11A |
probably benign |
Het |
| Pou2af3 |
T |
C |
9: 51,183,638 (GRCm39) |
N112S |
probably benign |
Het |
| Rtn4 |
T |
C |
11: 29,658,471 (GRCm39) |
V875A |
probably benign |
Het |
| Slc12a8 |
T |
A |
16: 33,466,947 (GRCm39) |
C485S |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,950,455 (GRCm39) |
S1190P |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,258,864 (GRCm39) |
R1134G |
probably benign |
Het |
| Sugt1 |
T |
C |
14: 79,866,388 (GRCm39) |
Y336H |
probably damaging |
Het |
| Tas2r134 |
A |
T |
2: 51,518,034 (GRCm39) |
Y171F |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,937,783 (GRCm39) |
D1088E |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,095,912 (GRCm39) |
W509R |
probably damaging |
Het |
| Tmem115 |
T |
C |
9: 107,411,742 (GRCm39) |
V22A |
possibly damaging |
Het |
| Tmem260 |
A |
G |
14: 48,724,276 (GRCm39) |
T223A |
probably benign |
Het |
| Tmprss6 |
G |
A |
15: 78,328,302 (GRCm39) |
H565Y |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,194,631 (GRCm39) |
S1175G |
unknown |
Het |
| Uspl1 |
T |
C |
5: 149,151,349 (GRCm39) |
S850P |
probably benign |
Het |
| Vmn2r11 |
C |
A |
5: 109,201,266 (GRCm39) |
A413S |
probably damaging |
Het |
| Vmn2r19 |
T |
G |
6: 123,292,923 (GRCm39) |
S322A |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,227,935 (GRCm39) |
C685* |
probably null |
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 |
|
|
R9668:Ptcd3
|
UTSW |
6 |
71,871,275 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9771:Ptcd3
|
UTSW |
6 |
71,872,903 (GRCm39) |
nonsense |
probably null |
|
|
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'- GGCCTGGGCTATATAAGTGGAATC -3'
(R):5'- CACTGTAGGTGTGAACATTTGG -3'
Sequencing Primer
(F):5'- GCAAGCCTCTTCTACATAGTGAG -3'
(R):5'- GCTTGCAAGCAAGCATT -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation