Incidental Mutation 'R2248:Ptcd3'
| ID |
240947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptcd3
|
| Ensembl Gene |
ENSMUSG00000063884 |
| Gene Name |
pentatricopeptide repeat domain 3 |
| Synonyms |
2610034F17Rik, 2810422B04Rik |
| MMRRC Submission |
040248-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71857622-71885734 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 71871269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082094]
[ENSMUST00000206879]
|
| AlphaFold |
Q14C51 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000082094
|
| SMART Domains |
Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
| 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 |
noncoding transcript
Transcript: ENSMUST00000205293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206762
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,323,476 (GRCm39) |
|
probably benign |
Het |
| Afp |
A |
G |
5: 90,649,429 (GRCm39) |
D332G |
probably damaging |
Het |
| AI593442 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
9: 52,589,114 (GRCm39) |
|
probably benign |
Het |
| Aldh1a2 |
A |
T |
9: 71,123,144 (GRCm39) |
I6F |
possibly damaging |
Het |
| Alg6 |
C |
T |
4: 99,626,444 (GRCm39) |
A84V |
probably damaging |
Het |
| Ank |
T |
A |
15: 27,562,797 (GRCm39) |
|
probably null |
Het |
| Ano5 |
A |
T |
7: 51,243,537 (GRCm39) |
M837L |
probably benign |
Het |
| Arl8b |
A |
G |
6: 108,760,304 (GRCm39) |
Y30C |
probably benign |
Het |
| Bfsp1 |
A |
T |
2: 143,669,572 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
C |
G |
14: 36,803,334 (GRCm39) |
V581L |
probably benign |
Het |
| Chst8 |
G |
T |
7: 34,447,597 (GRCm39) |
T7K |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,530,980 (GRCm39) |
K790R |
probably benign |
Het |
| Clta |
A |
G |
4: 44,012,852 (GRCm39) |
N21D |
probably damaging |
Het |
| Col6a4 |
T |
G |
9: 105,957,158 (GRCm39) |
E222A |
probably benign |
Het |
| Dcc |
G |
T |
18: 71,959,239 (GRCm39) |
Q178K |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,491,358 (GRCm39) |
D140G |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,007,243 (GRCm39) |
D648V |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,628,213 (GRCm39) |
N18S |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,451,400 (GRCm39) |
H1538R |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,162,815 (GRCm39) |
E362G |
probably benign |
Het |
| Frk |
C |
A |
10: 34,484,527 (GRCm39) |
T500K |
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,898,192 (GRCm39) |
E99G |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,501,595 (GRCm39) |
L120P |
probably damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,805 (GRCm39) |
S449P |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,730,379 (GRCm39) |
I1655F |
possibly damaging |
Het |
| Hectd1 |
G |
T |
12: 51,853,254 (GRCm39) |
T89N |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,875,226 (GRCm39) |
I1756S |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,304,835 (GRCm39) |
R3825L |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,564,036 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
A |
T |
17: 27,334,033 (GRCm39) |
E2035V |
probably damaging |
Het |
| Khnyn |
T |
A |
14: 56,124,195 (GRCm39) |
S150T |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,100,704 (GRCm39) |
I1595T |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,242,607 (GRCm39) |
T230S |
possibly damaging |
Het |
| Limch1 |
G |
T |
5: 67,201,742 (GRCm39) |
G838V |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,341,354 (GRCm39) |
D942V |
probably damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,744,050 (GRCm39) |
T153S |
possibly damaging |
Het |
| Mal2 |
T |
A |
15: 54,451,732 (GRCm39) |
I51N |
probably damaging |
Het |
| Matcap2 |
A |
G |
9: 22,355,410 (GRCm39) |
T482A |
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,407,295 (GRCm39) |
Q385L |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,532,088 (GRCm39) |
D2117V |
probably damaging |
Het |
| Ntn1 |
T |
C |
11: 68,168,398 (GRCm39) |
N353S |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,940,926 (GRCm39) |
E289G |
possibly damaging |
Het |
| Or2m13 |
A |
G |
16: 19,225,944 (GRCm39) |
V274A |
probably damaging |
Het |
| Or4a81 |
C |
A |
2: 89,619,524 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5w17 |
T |
C |
2: 87,584,287 (GRCm39) |
I17V |
probably null |
Het |
| Plk1 |
A |
G |
7: 121,768,044 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
G |
A |
5: 143,853,324 (GRCm39) |
V230M |
probably damaging |
Het |
| Pole3 |
C |
A |
4: 62,443,250 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5c |
T |
C |
12: 110,452,357 (GRCm39) |
F22S |
probably benign |
Het |
| Prp2rt |
C |
A |
13: 97,235,406 (GRCm39) |
V114F |
possibly damaging |
Het |
| Ptprq |
A |
T |
10: 107,478,931 (GRCm39) |
|
probably null |
Het |
| Rab18 |
T |
A |
18: 6,788,629 (GRCm39) |
C199S |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,450,251 (GRCm39) |
N4099S |
probably damaging |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,869 (GRCm39) |
|
probably null |
Het |
| Slco1c1 |
T |
A |
6: 141,492,415 (GRCm39) |
I217N |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,143,678 (GRCm39) |
T6241I |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,178,297 (GRCm39) |
F288L |
possibly damaging |
Het |
| Tmod2 |
G |
T |
9: 75,499,931 (GRCm39) |
T107N |
probably benign |
Het |
| Trappc6b |
T |
C |
12: 59,097,167 (GRCm39) |
T52A |
probably damaging |
Het |
| Tsen54 |
A |
G |
11: 115,706,232 (GRCm39) |
E122G |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,709,103 (GRCm39) |
N443S |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,662,365 (GRCm39) |
|
probably benign |
Het |
| Virma |
T |
A |
4: 11,518,927 (GRCm39) |
Y725N |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,238,019 (GRCm39) |
D207N |
probably benign |
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 |
|
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 |
|
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'- GCCCAAAATCCTTTCTCGTG -3'
(R):5'- AGGTTAGCTAAGACACCAAGACTG -3'
Sequencing Primer
(F):5'- GTCATCTCTGGCCAGAATTTTAATGC -3'
(R):5'- AGACTGACCATTATCTCATTTTCAGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation