Incidental Mutation 'R6604:Ppig'
| ID |
525517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppig
|
| Ensembl Gene |
ENSMUSG00000042133 |
| Gene Name |
peptidyl-prolyl isomerase G (cyclophilin G) |
| Synonyms |
SRCyp, B230312B02Rik |
| MMRRC Submission |
044727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.816)
|
| Stock # |
R6604 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
69553152-69584356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69571925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 215
(S215P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040915]
[ENSMUST00000090858]
|
| AlphaFold |
A2AR02 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000040915
AA Change: S215P
|
| SMART Domains |
Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: S215P
| 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 |
unknown
Transcript: ENSMUST00000090858
AA Change: S215P
|
| SMART Domains |
Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: S215P
| 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: ENSMUST00000128506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143954
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
G |
15: 37,439,823 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
G |
11: 9,328,384 (GRCm39) |
F3486V |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,122,271 (GRCm39) |
L830P |
probably damaging |
Het |
| Aurkb |
T |
A |
11: 68,939,388 (GRCm39) |
L157* |
probably null |
Het |
| Bbs10 |
T |
G |
10: 111,136,965 (GRCm39) |
L693V |
possibly damaging |
Het |
| Dna2 |
G |
T |
10: 62,803,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,589,772 (GRCm39) |
L123* |
probably null |
Het |
| Ext1 |
A |
G |
15: 52,946,555 (GRCm39) |
F550L |
probably damaging |
Het |
| Gm5129 |
A |
G |
5: 29,940,765 (GRCm39) |
|
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,786,197 (GRCm39) |
Y332H |
probably damaging |
Het |
| Gpbp1l1 |
C |
T |
4: 116,430,702 (GRCm39) |
P58S |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,877,208 (GRCm39) |
D301V |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,851,797 (GRCm39) |
E106G |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,318,964 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
C |
A |
16: 94,563,504 (GRCm39) |
E313D |
probably damaging |
Het |
| Lmna |
A |
G |
3: 88,395,589 (GRCm39) |
V57A |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,221 (GRCm39) |
F226S |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,895 (GRCm39) |
|
probably null |
Het |
| Pgr |
A |
C |
9: 8,946,867 (GRCm39) |
T703P |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,692,567 (GRCm39) |
R145G |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,810,110 (GRCm39) |
N270T |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,089,351 (GRCm39) |
K1305N |
unknown |
Het |
| Shc1 |
A |
G |
3: 89,329,186 (GRCm39) |
Y10C |
probably damaging |
Het |
| Slc12a1 |
G |
T |
2: 125,026,735 (GRCm39) |
D457Y |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,038,918 (GRCm39) |
Q544R |
possibly damaging |
Het |
| Socs5 |
T |
C |
17: 87,442,553 (GRCm39) |
Y498H |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,242,671 (GRCm39) |
D1472G |
probably benign |
Het |
| Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,179,512 (GRCm39) |
T38A |
probably benign |
Het |
| Vmn2r29 |
A |
T |
7: 7,234,858 (GRCm39) |
V676E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,907,694 (GRCm39) |
V56A |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,189 (GRCm39) |
I810T |
possibly damaging |
Het |
| Zfp958 |
T |
C |
8: 4,678,245 (GRCm39) |
L90P |
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 |
|
|
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 |
|
|
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'- CCAAGGCCTGACTGTTGTACTC -3'
(R):5'- GATCGTATGCCACTGTTATAAAACC -3'
Sequencing Primer
(F):5'- CTCTGAGTTGAGATGACTGAATGAAC -3'
(R):5'- AAACCTTTCTATTTCAGTGCTCTTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation