Incidental Mutation 'R6657:Pfpl'
| ID |
526691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfpl
|
| Ensembl Gene |
ENSMUSG00000040065 |
| Gene Name |
pore forming protein-like |
| Synonyms |
Epcs5, Epcs50 |
| MMRRC Submission |
044778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6657 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12405290-12409474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12407290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 514
(V514I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168148]
|
| AlphaFold |
Q5RKV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168148
AA Change: V514I
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: V514I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
MACPF
|
144 |
343 |
6.26e-33 |
SMART |
|
transmembrane domain
|
643 |
665 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
T |
G |
8: 106,435,450 (GRCm39) |
L36R |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Akr1b7 |
A |
C |
6: 34,393,135 (GRCm39) |
D106A |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Chst5 |
C |
T |
8: 112,616,906 (GRCm39) |
R238Q |
probably benign |
Het |
| Cpxm2 |
T |
C |
7: 131,650,806 (GRCm39) |
Y618C |
probably damaging |
Het |
| Csnk1d |
T |
C |
11: 120,855,820 (GRCm39) |
E405G |
possibly damaging |
Het |
| Ctsh |
A |
T |
9: 89,942,555 (GRCm39) |
M37L |
probably benign |
Het |
| Eml5 |
T |
G |
12: 98,757,664 (GRCm39) |
I1843L |
probably damaging |
Het |
| Ep400 |
C |
A |
5: 110,841,411 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Gpc5 |
A |
G |
14: 115,607,610 (GRCm39) |
H404R |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,757 (GRCm39) |
D230G |
possibly damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,222 (GRCm39) |
D735G |
probably damaging |
Het |
| Kansl2 |
T |
A |
15: 98,422,551 (GRCm39) |
Q339L |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,322,398 (GRCm39) |
M1078K |
probably benign |
Het |
| Mmp24 |
A |
T |
2: 155,640,099 (GRCm39) |
Y143F |
probably damaging |
Het |
| Mroh7 |
A |
T |
4: 106,559,697 (GRCm39) |
C743* |
probably null |
Het |
| Myh14 |
T |
C |
7: 44,287,270 (GRCm39) |
N618D |
probably damaging |
Het |
| Myo19 |
A |
T |
11: 84,788,022 (GRCm39) |
M324L |
probably benign |
Het |
| Nectin2 |
T |
C |
7: 19,472,065 (GRCm39) |
N108S |
probably benign |
Het |
| Nrg2 |
A |
G |
18: 36,329,642 (GRCm39) |
I191T |
probably damaging |
Het |
| Odf4 |
T |
C |
11: 68,817,638 (GRCm39) |
N18D |
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,403 (GRCm39) |
I113F |
probably benign |
Het |
| Pcsk2 |
T |
G |
2: 143,532,286 (GRCm39) |
L145V |
probably damaging |
Het |
| Pdzrn3 |
C |
A |
6: 101,127,983 (GRCm39) |
Q894H |
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,594,250 (GRCm39) |
M333K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,062,356 (GRCm39) |
M2554K |
possibly damaging |
Het |
| Psmb5 |
A |
G |
14: 54,851,840 (GRCm39) |
Y115H |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,788,977 (GRCm39) |
N198D |
possibly damaging |
Het |
| Rsrc2 |
A |
G |
5: 123,877,630 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,315,876 (GRCm39) |
W262* |
probably null |
Het |
| Sfmbt1 |
A |
G |
14: 30,488,053 (GRCm39) |
D8G |
possibly damaging |
Het |
| Sptbn5 |
T |
G |
2: 119,906,881 (GRCm39) |
|
probably benign |
Het |
| Sqor |
A |
G |
2: 122,649,514 (GRCm39) |
D139G |
possibly damaging |
Het |
| Sugt1 |
A |
T |
14: 79,844,701 (GRCm39) |
T139S |
probably benign |
Het |
| Tcp11 |
G |
A |
17: 28,290,646 (GRCm39) |
P159S |
probably damaging |
Het |
| Tmem262 |
A |
G |
19: 6,130,542 (GRCm39) |
T89A |
possibly damaging |
Het |
| Tnfaip6 |
C |
A |
2: 51,933,795 (GRCm39) |
T50N |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,826,182 (GRCm39) |
Y131H |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,320 (GRCm39) |
M185K |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r52 |
G |
A |
7: 9,893,090 (GRCm39) |
T683I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,025,253 (GRCm39) |
I197N |
probably damaging |
Het |
| Washc4 |
T |
A |
10: 83,394,482 (GRCm39) |
F269L |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,769,208 (GRCm39) |
V2086M |
possibly damaging |
Het |
| Zfp592 |
A |
T |
7: 80,675,234 (GRCm39) |
T733S |
possibly damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,538 (GRCm39) |
F209S |
probably damaging |
Het |
|
| Other mutations in Pfpl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00930:Pfpl
|
APN |
19 |
12,407,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01298:Pfpl
|
APN |
19 |
12,406,037 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01310:Pfpl
|
APN |
19 |
12,405,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02273:Pfpl
|
APN |
19 |
12,407,327 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02532:Pfpl
|
APN |
19 |
12,406,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02611:Pfpl
|
APN |
19 |
12,407,647 (GRCm39) |
missense |
probably benign |
|
|
IGL02642:Pfpl
|
APN |
19 |
12,407,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02715:Pfpl
|
APN |
19 |
12,407,145 (GRCm39) |
nonsense |
probably null |
|
|
IGL03087:Pfpl
|
APN |
19 |
12,406,241 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03223:Pfpl
|
APN |
19 |
12,407,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03253:Pfpl
|
APN |
19 |
12,407,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
pegged
|
UTSW |
19 |
12,406,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D3080:Pfpl
|
UTSW |
19 |
12,406,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0276:Pfpl
|
UTSW |
19 |
12,406,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Pfpl
|
UTSW |
19 |
12,406,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Pfpl
|
UTSW |
19 |
12,407,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1510:Pfpl
|
UTSW |
19 |
12,407,060 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1759:Pfpl
|
UTSW |
19 |
12,407,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2009:Pfpl
|
UTSW |
19 |
12,407,319 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2063:Pfpl
|
UTSW |
19 |
12,407,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Pfpl
|
UTSW |
19 |
12,407,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2656:Pfpl
|
UTSW |
19 |
12,407,600 (GRCm39) |
missense |
probably benign |
|
|
R2969:Pfpl
|
UTSW |
19 |
12,406,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3003:Pfpl
|
UTSW |
19 |
12,407,690 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3428:Pfpl
|
UTSW |
19 |
12,407,677 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3904:Pfpl
|
UTSW |
19 |
12,407,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4049:Pfpl
|
UTSW |
19 |
12,407,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Pfpl
|
UTSW |
19 |
12,406,618 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5343:Pfpl
|
UTSW |
19 |
12,406,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5804:Pfpl
|
UTSW |
19 |
12,407,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6032:Pfpl
|
UTSW |
19 |
12,406,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6032:Pfpl
|
UTSW |
19 |
12,406,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6047:Pfpl
|
UTSW |
19 |
12,406,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6106:Pfpl
|
UTSW |
19 |
12,406,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7467:Pfpl
|
UTSW |
19 |
12,405,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7720:Pfpl
|
UTSW |
19 |
12,406,538 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8024:Pfpl
|
UTSW |
19 |
12,407,570 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8370:Pfpl
|
UTSW |
19 |
12,407,275 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8730:Pfpl
|
UTSW |
19 |
12,405,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Pfpl
|
UTSW |
19 |
12,405,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Pfpl
|
UTSW |
19 |
12,405,804 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9148:Pfpl
|
UTSW |
19 |
12,405,804 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9248:Pfpl
|
UTSW |
19 |
12,406,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9283:Pfpl
|
UTSW |
19 |
12,406,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9561:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Pfpl
|
UTSW |
19 |
12,407,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9670:Pfpl
|
UTSW |
19 |
12,407,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9721:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pfpl
|
UTSW |
19 |
12,407,305 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTTCAGAGTGGCCAAGG -3'
(R):5'- TGTAAAGACTCCAGCCTTGAC -3'
Sequencing Primer
(F):5'- TGGCCAAGGCTGAAGTTAGCTC -3'
(R):5'- GTAGGACACTTGGCATCCATCAATG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation