Incidental Mutation 'R1629:Ppig'
| ID |
172658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppig
|
| Ensembl Gene |
ENSMUSG00000042133 |
| Gene Name |
peptidyl-prolyl isomerase G (cyclophilin G) |
| Synonyms |
SRCyp, B230312B02Rik |
| MMRRC Submission |
039666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.816)
|
| Stock # |
R1629 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
69553152-69584356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69566217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 128
(T128K)
|
| 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: T128K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: T128K
| 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: T128K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: T128K
| 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 |
noncoding transcript
Transcript: ENSMUST00000146234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142839
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144652
|
| SMART Domains |
Protein: ENSMUSP00000114570
Gene: ENSMUSG00000042133
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
11 |
127 |
8.4e-32 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
C |
18: 59,087,691 (GRCm39) |
I574L |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,864,020 (GRCm39) |
E191G |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 118,919,806 (GRCm39) |
D457G |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,164 (GRCm39) |
K352E |
probably benign |
Het |
| Cdk14 |
A |
T |
5: 5,153,807 (GRCm39) |
H183Q |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,929,778 (GRCm39) |
T80A |
probably benign |
Het |
| Cftr |
C |
T |
6: 18,226,105 (GRCm39) |
T351I |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,248,100 (GRCm39) |
|
probably benign |
Het |
| Cp |
T |
A |
3: 20,020,614 (GRCm39) |
|
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,456,175 (GRCm39) |
V196E |
probably benign |
Het |
| Dmxl1 |
T |
G |
18: 49,992,353 (GRCm39) |
|
probably null |
Het |
| Dnm2 |
T |
A |
9: 21,415,754 (GRCm39) |
L642Q |
probably damaging |
Het |
| Dock2 |
G |
T |
11: 34,212,480 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
G |
14: 121,780,986 (GRCm39) |
F2091L |
possibly damaging |
Het |
| Eaf2 |
A |
G |
16: 36,645,063 (GRCm39) |
V53A |
probably damaging |
Het |
| Fbl |
G |
T |
7: 27,874,212 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,159,610 (GRCm39) |
D2373G |
probably damaging |
Het |
| Gbp2b |
A |
G |
3: 142,316,735 (GRCm39) |
Y462C |
possibly damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,396,020 (GRCm39) |
F348I |
probably benign |
Het |
| Khdc1a |
T |
A |
1: 21,421,121 (GRCm39) |
I102N |
possibly damaging |
Het |
| Klhl11 |
T |
C |
11: 100,355,012 (GRCm39) |
T270A |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,112,423 (GRCm39) |
S2288P |
probably benign |
Het |
| Lrfn4 |
T |
C |
19: 4,663,523 (GRCm39) |
E337G |
possibly damaging |
Het |
| Macf1 |
C |
A |
4: 123,402,208 (GRCm39) |
E549* |
probably null |
Het |
| Mmp3 |
G |
T |
9: 7,447,641 (GRCm39) |
V209F |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,648,601 (GRCm39) |
R1725W |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,910,312 (GRCm39) |
D1294E |
possibly damaging |
Het |
| Nrcam |
G |
A |
12: 44,610,769 (GRCm39) |
A496T |
probably benign |
Het |
| Nufip2 |
A |
G |
11: 77,583,834 (GRCm39) |
T583A |
probably benign |
Het |
| Or5m3b |
A |
G |
2: 85,871,766 (GRCm39) |
T36A |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,257,208 (GRCm39) |
C341S |
possibly damaging |
Het |
| Ptpre |
A |
T |
7: 135,271,528 (GRCm39) |
D374V |
probably damaging |
Het |
| Ranbp3l |
A |
C |
15: 9,065,068 (GRCm39) |
Q485P |
probably damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Slc1a7 |
A |
G |
4: 107,865,340 (GRCm39) |
Y276C |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,044,091 (GRCm39) |
D221G |
probably benign |
Het |
| Smn1 |
C |
A |
13: 100,264,404 (GRCm39) |
T45N |
probably damaging |
Het |
| Son |
T |
C |
16: 91,454,510 (GRCm39) |
S1086P |
probably damaging |
Het |
| Ssmem1 |
T |
A |
6: 30,512,491 (GRCm39) |
Y45N |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,121 (GRCm39) |
H1943R |
possibly damaging |
Het |
| Tmem184c |
A |
C |
8: 78,329,551 (GRCm39) |
F170V |
possibly damaging |
Het |
| Tmem184c |
A |
T |
8: 78,332,791 (GRCm39) |
|
probably null |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,466 (GRCm39) |
C98Y |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,386 (GRCm39) |
S421T |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
possibly 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 |
|
|
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 |
|
|
R3702:Ppig
|
UTSW |
2 |
69,563,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CAGAGCCATCAGACTGACTGTTCC -3'
(R):5'- TTCCTGACCAGAGATCACTTGCCC -3'
Sequencing Primer
(F):5'- catgttggctcacaaccatc -3'
(R):5'- TTGCCCAAAAACAACATGATGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation