Incidental Mutation 'R3702:Ppig'
ID |
258553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppig
|
Ensembl Gene |
ENSMUSG00000042133 |
Gene Name |
peptidyl-prolyl isomerase G (cyclophilin G) |
Synonyms |
SRCyp, B230312B02Rik |
MMRRC Submission |
040695-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.816)
|
Stock # |
R3702 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
69553152-69584356 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 69563553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 89
(S89T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088370
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040915]
[ENSMUST00000090858]
[ENSMUST00000144652]
|
AlphaFold |
A2AR02 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040915
AA Change: S89T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045945 Gene: ENSMUSG00000042133 AA Change: S89T
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
11 |
176 |
2.8e-50 |
PFAM |
low complexity region
|
180 |
258 |
N/A |
INTRINSIC |
low complexity region
|
272 |
280 |
N/A |
INTRINSIC |
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
low complexity region
|
334 |
354 |
N/A |
INTRINSIC |
low complexity region
|
417 |
433 |
N/A |
INTRINSIC |
low complexity region
|
441 |
478 |
N/A |
INTRINSIC |
internal_repeat_1
|
483 |
518 |
1.1e-9 |
PROSPERO |
internal_repeat_2
|
485 |
555 |
1.1e-9 |
PROSPERO |
internal_repeat_3
|
506 |
556 |
4.26e-7 |
PROSPERO |
internal_repeat_1
|
521 |
556 |
1.1e-9 |
PROSPERO |
low complexity region
|
559 |
586 |
N/A |
INTRINSIC |
low complexity region
|
591 |
637 |
N/A |
INTRINSIC |
internal_repeat_3
|
646 |
693 |
4.26e-7 |
PROSPERO |
internal_repeat_4
|
653 |
686 |
6.68e-6 |
PROSPERO |
internal_repeat_2
|
661 |
735 |
1.1e-9 |
PROSPERO |
internal_repeat_4
|
711 |
744 |
6.68e-6 |
PROSPERO |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090858
AA Change: S89T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088370 Gene: ENSMUSG00000042133 AA Change: S89T
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
11 |
176 |
2.7e-49 |
PFAM |
low complexity region
|
180 |
258 |
N/A |
INTRINSIC |
low complexity region
|
272 |
280 |
N/A |
INTRINSIC |
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
low complexity region
|
334 |
354 |
N/A |
INTRINSIC |
low complexity region
|
417 |
433 |
N/A |
INTRINSIC |
low complexity region
|
441 |
478 |
N/A |
INTRINSIC |
internal_repeat_1
|
483 |
518 |
1.1e-9 |
PROSPERO |
internal_repeat_2
|
485 |
555 |
1.1e-9 |
PROSPERO |
internal_repeat_3
|
506 |
556 |
4.26e-7 |
PROSPERO |
internal_repeat_1
|
521 |
556 |
1.1e-9 |
PROSPERO |
low complexity region
|
559 |
586 |
N/A |
INTRINSIC |
low complexity region
|
591 |
637 |
N/A |
INTRINSIC |
internal_repeat_3
|
646 |
693 |
4.26e-7 |
PROSPERO |
internal_repeat_4
|
653 |
686 |
6.68e-6 |
PROSPERO |
internal_repeat_2
|
661 |
735 |
1.1e-9 |
PROSPERO |
internal_repeat_4
|
711 |
744 |
6.68e-6 |
PROSPERO |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124810
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125105
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128506
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134424
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144652
AA Change: S89T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114570 Gene: ENSMUSG00000042133 AA Change: S89T
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
11 |
127 |
8.4e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146234
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134500
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142839
|
Meta Mutation Damage Score |
0.8128 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
C |
T |
11: 110,178,884 (GRCm39) |
|
probably null |
Het |
Aopep |
A |
T |
13: 63,163,144 (GRCm39) |
N55I |
probably benign |
Het |
Cacna1a |
T |
G |
8: 85,344,475 (GRCm39) |
S1846A |
probably damaging |
Het |
Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
Calhm3 |
T |
A |
19: 47,140,187 (GRCm39) |
D302V |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,556,182 (GRCm39) |
M878V |
probably benign |
Het |
Col24a1 |
C |
T |
3: 145,043,621 (GRCm39) |
H603Y |
probably benign |
Het |
Commd1 |
T |
A |
11: 22,924,057 (GRCm39) |
L277H |
probably damaging |
Het |
Cpped1 |
G |
T |
16: 11,646,304 (GRCm39) |
D135E |
probably damaging |
Het |
Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,958,114 (GRCm39) |
T373A |
probably benign |
Het |
Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
Fcgbpl1 |
G |
A |
7: 27,857,203 (GRCm39) |
V2184M |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Grik4 |
T |
C |
9: 42,586,514 (GRCm39) |
K114E |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
C |
A |
10: 127,430,972 (GRCm39) |
R359L |
probably damaging |
Het |
Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,987,647 (GRCm39) |
L729P |
probably damaging |
Het |
Myot |
T |
A |
18: 44,487,162 (GRCm39) |
|
probably null |
Het |
Obox2 |
G |
T |
7: 15,130,882 (GRCm39) |
R38L |
probably benign |
Het |
Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
Pcdha3 |
A |
G |
18: 37,080,401 (GRCm39) |
Q381R |
probably benign |
Het |
Pip4k2b |
A |
G |
11: 97,620,374 (GRCm39) |
|
probably benign |
Het |
Prune2 |
A |
G |
19: 17,156,235 (GRCm39) |
D47G |
probably damaging |
Het |
Sh2b2 |
A |
G |
5: 136,253,087 (GRCm39) |
S362P |
probably damaging |
Het |
Snap91 |
G |
A |
9: 86,688,573 (GRCm39) |
T322I |
probably damaging |
Het |
Taf3 |
G |
A |
2: 9,957,372 (GRCm39) |
T112I |
possibly damaging |
Het |
Tcea1 |
T |
C |
1: 4,965,158 (GRCm39) |
V276A |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
Tomm40 |
G |
T |
7: 19,447,598 (GRCm39) |
T144K |
possibly damaging |
Het |
Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
Zfp326 |
A |
G |
5: 106,036,709 (GRCm39) |
|
probably null |
Het |
Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
Het |
|
Other mutations in Ppig |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00543:Ppig
|
APN |
2 |
69,580,060 (GRCm39) |
missense |
unknown |
|
IGL00780:Ppig
|
APN |
2 |
69,563,268 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02043:Ppig
|
APN |
2 |
69,566,327 (GRCm39) |
splice site |
probably null |
|
IGL02420:Ppig
|
APN |
2 |
69,562,571 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02736:Ppig
|
APN |
2 |
69,566,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R0358:Ppig
|
UTSW |
2 |
69,573,942 (GRCm39) |
splice site |
probably benign |
|
R0396:Ppig
|
UTSW |
2 |
69,566,320 (GRCm39) |
unclassified |
probably benign |
|
R1035:Ppig
|
UTSW |
2 |
69,579,803 (GRCm39) |
missense |
unknown |
|
R1159:Ppig
|
UTSW |
2 |
69,580,568 (GRCm39) |
missense |
unknown |
|
R1396:Ppig
|
UTSW |
2 |
69,579,362 (GRCm39) |
missense |
unknown |
|
R1593:Ppig
|
UTSW |
2 |
69,579,425 (GRCm39) |
missense |
unknown |
|
R1629:Ppig
|
UTSW |
2 |
69,566,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R1799:Ppig
|
UTSW |
2 |
69,579,744 (GRCm39) |
missense |
unknown |
|
R2001:Ppig
|
UTSW |
2 |
69,571,988 (GRCm39) |
missense |
unknown |
|
R2112:Ppig
|
UTSW |
2 |
69,580,451 (GRCm39) |
missense |
unknown |
|
R3855:Ppig
|
UTSW |
2 |
69,579,719 (GRCm39) |
missense |
unknown |
|
R4999:Ppig
|
UTSW |
2 |
69,571,830 (GRCm39) |
missense |
unknown |
|
R5001:Ppig
|
UTSW |
2 |
69,571,830 (GRCm39) |
missense |
unknown |
|
R5153:Ppig
|
UTSW |
2 |
69,579,994 (GRCm39) |
missense |
unknown |
|
R5218:Ppig
|
UTSW |
2 |
69,563,127 (GRCm39) |
intron |
probably benign |
|
R5336:Ppig
|
UTSW |
2 |
69,580,568 (GRCm39) |
missense |
unknown |
|
R5410:Ppig
|
UTSW |
2 |
69,566,241 (GRCm39) |
missense |
probably null |
1.00 |
R5443:Ppig
|
UTSW |
2 |
69,564,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R5513:Ppig
|
UTSW |
2 |
69,580,703 (GRCm39) |
missense |
probably benign |
0.23 |
R6179:Ppig
|
UTSW |
2 |
69,580,471 (GRCm39) |
missense |
unknown |
|
R6333:Ppig
|
UTSW |
2 |
69,579,902 (GRCm39) |
missense |
unknown |
|
R6604:Ppig
|
UTSW |
2 |
69,571,925 (GRCm39) |
missense |
unknown |
|
R6932:Ppig
|
UTSW |
2 |
69,562,755 (GRCm39) |
missense |
probably benign |
0.40 |
R7206:Ppig
|
UTSW |
2 |
69,571,910 (GRCm39) |
missense |
unknown |
|
R7220:Ppig
|
UTSW |
2 |
69,580,320 (GRCm39) |
missense |
unknown |
|
R7308:Ppig
|
UTSW |
2 |
69,579,806 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGGGTGGTGACTTCAGTGAAG -3'
(R):5'- CTGAACCTCCATCAGAGCATTG -3'
Sequencing Primer
(F):5'- GGACAATTTACAAGAGTCAGTCCTC -3'
(R):5'- GAACCTCCATCAGAGCATTGTTTAC -3'
|
Posted On |
2015-01-23 |