Incidental Mutation 'R5850:Prf1'
ID |
454629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prf1
|
Ensembl Gene |
ENSMUSG00000037202 |
Gene Name |
perforin 1 (pore forming protein) |
Synonyms |
Pfp, Pfn, perforin, Prf-1 |
MMRRC Submission |
043226-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5850 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
61133612-61140459 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 61135972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 83
(A83S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035419]
[ENSMUST00000219375]
|
AlphaFold |
P10820 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035419
AA Change: A83S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000041483 Gene: ENSMUSG00000037202 AA Change: A83S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
MACPF
|
165 |
368 |
1.84e-80 |
SMART |
C2
|
415 |
516 |
1.59e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219375
AA Change: A83S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice exhibit increased susceptibility to viral infection and defective cytotoxic T cell cytolysis and NK cell cytolysis. [provided by MGI curators]
|
Allele List at MGI |
All alleles(7) : Targeted(7)
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Abhd14a |
A |
C |
9: 106,317,548 (GRCm39) |
L225R |
probably damaging |
Het |
Apbb1 |
A |
G |
7: 105,216,790 (GRCm39) |
S39P |
probably damaging |
Het |
Apc |
T |
C |
18: 34,451,116 (GRCm39) |
S2637P |
possibly damaging |
Het |
Apold1 |
T |
C |
6: 134,961,058 (GRCm39) |
F171L |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,587,049 (GRCm39) |
M967T |
probably damaging |
Het |
Atf7ip |
T |
C |
6: 136,543,785 (GRCm39) |
|
probably null |
Het |
Bcl2l15 |
T |
A |
3: 103,743,432 (GRCm39) |
V111D |
possibly damaging |
Het |
Bsn |
A |
T |
9: 107,992,149 (GRCm39) |
M1201K |
probably damaging |
Het |
Ccdc141 |
T |
A |
2: 76,859,747 (GRCm39) |
N965Y |
probably damaging |
Het |
Cnn3 |
T |
C |
3: 121,245,577 (GRCm39) |
Y98H |
probably damaging |
Het |
Cnot1 |
G |
A |
8: 96,460,775 (GRCm39) |
R117* |
probably null |
Het |
Dlgap1 |
G |
A |
17: 71,094,087 (GRCm39) |
V803M |
probably damaging |
Het |
Drd3 |
A |
C |
16: 43,638,695 (GRCm39) |
M299L |
probably benign |
Het |
Ergic2 |
C |
A |
6: 148,084,605 (GRCm39) |
M34I |
possibly damaging |
Het |
Ext2 |
A |
T |
2: 93,644,004 (GRCm39) |
D92E |
possibly damaging |
Het |
Fmnl1 |
A |
G |
11: 103,086,111 (GRCm39) |
|
probably benign |
Het |
Ganab |
C |
T |
19: 8,889,071 (GRCm39) |
R591W |
probably damaging |
Het |
Kdsr |
A |
T |
1: 106,683,172 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,401,099 (GRCm39) |
E813G |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,247,675 (GRCm39) |
T1621A |
probably benign |
Het |
Nmnat1 |
G |
A |
4: 149,554,124 (GRCm39) |
Q139* |
probably null |
Het |
Os9 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
10: 126,934,348 (GRCm39) |
|
probably benign |
Het |
Oxa1l |
T |
G |
14: 54,605,121 (GRCm39) |
V11G |
possibly damaging |
Het |
Padi1 |
A |
G |
4: 140,542,141 (GRCm39) |
Y594H |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,903,667 (GRCm39) |
F327I |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 149,981,127 (GRCm39) |
E470G |
probably benign |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Slc19a2 |
A |
G |
1: 164,091,025 (GRCm39) |
I278V |
probably benign |
Het |
Smco1 |
A |
T |
16: 32,092,674 (GRCm39) |
N115I |
probably damaging |
Het |
Smyd3 |
G |
A |
1: 178,871,420 (GRCm39) |
L320F |
probably damaging |
Het |
Svil |
T |
A |
18: 5,098,900 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
G |
12: 76,144,749 (GRCm39) |
D1566G |
probably damaging |
Het |
Tpm2 |
T |
C |
4: 43,523,296 (GRCm39) |
D20G |
probably damaging |
Het |
Ubap1l |
A |
G |
9: 65,281,045 (GRCm39) |
Y241C |
probably damaging |
Het |
Usp15 |
A |
G |
10: 122,960,417 (GRCm39) |
|
probably null |
Het |
Wdr45b |
A |
G |
11: 121,221,923 (GRCm39) |
|
probably benign |
Het |
Zc3h14 |
A |
G |
12: 98,745,414 (GRCm39) |
I468V |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
Other mutations in Prf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02970:Prf1
|
APN |
10 |
61,135,957 (GRCm39) |
missense |
probably benign |
|
prime
|
UTSW |
10 |
61,139,501 (GRCm39) |
nonsense |
probably null |
|
PIT4802001:Prf1
|
UTSW |
10 |
61,135,972 (GRCm39) |
missense |
probably benign |
0.01 |
R0526:Prf1
|
UTSW |
10 |
61,136,033 (GRCm39) |
missense |
probably benign |
0.01 |
R0594:Prf1
|
UTSW |
10 |
61,139,501 (GRCm39) |
nonsense |
probably null |
|
R1237:Prf1
|
UTSW |
10 |
61,139,428 (GRCm39) |
missense |
probably benign |
0.00 |
R1508:Prf1
|
UTSW |
10 |
61,139,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R1553:Prf1
|
UTSW |
10 |
61,138,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R1665:Prf1
|
UTSW |
10 |
61,138,666 (GRCm39) |
missense |
probably benign |
0.29 |
R1716:Prf1
|
UTSW |
10 |
61,136,231 (GRCm39) |
missense |
probably benign |
0.01 |
R1817:Prf1
|
UTSW |
10 |
61,138,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R1818:Prf1
|
UTSW |
10 |
61,138,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R2014:Prf1
|
UTSW |
10 |
61,139,674 (GRCm39) |
missense |
probably benign |
0.41 |
R2307:Prf1
|
UTSW |
10 |
61,138,942 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2901:Prf1
|
UTSW |
10 |
61,136,098 (GRCm39) |
missense |
probably damaging |
0.96 |
R2902:Prf1
|
UTSW |
10 |
61,136,098 (GRCm39) |
missense |
probably damaging |
0.96 |
R4724:Prf1
|
UTSW |
10 |
61,139,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R4781:Prf1
|
UTSW |
10 |
61,136,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R5327:Prf1
|
UTSW |
10 |
61,136,037 (GRCm39) |
missense |
probably benign |
0.00 |
R5999:Prf1
|
UTSW |
10 |
61,138,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R7356:Prf1
|
UTSW |
10 |
61,139,059 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7508:Prf1
|
UTSW |
10 |
61,135,934 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7714:Prf1
|
UTSW |
10 |
61,135,934 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7716:Prf1
|
UTSW |
10 |
61,135,934 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8162:Prf1
|
UTSW |
10 |
61,138,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R8749:Prf1
|
UTSW |
10 |
61,138,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R9170:Prf1
|
UTSW |
10 |
61,136,216 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Prf1
|
UTSW |
10 |
61,139,619 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCGGTCAGAATGCAAGCAG -3'
(R):5'- TCAGCTGCAAAATTGGCTACC -3'
Sequencing Primer
(F):5'- TGCAAGCAGAAGCACAAGTTC -3'
(R):5'- CTGCAAAATTGGCTACCTTGGAG -3'
|
Posted On |
2017-02-10 |