Incidental Mutation 'PIT4802001:Prf1'
| ID |
556742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prf1
|
| Ensembl Gene |
ENSMUSG00000037202 |
| Gene Name |
perforin 1 (pore forming protein) |
| Synonyms |
Pfp, Pfn, perforin, Prf-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4802001 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61133612-61140459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61135972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 83
(A83T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035419]
[ENSMUST00000219375]
|
| AlphaFold |
P10820 |
| PDB Structure |
The X-ray crystal structure of lymphocyte perforin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035419
AA Change: A83T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000041483
Gene: ENSMUSG00000037202
AA Change: A83T
| 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: A83T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Coding Region Coverage |
- 1x: 93.6%
- 3x: 91.0%
- 10x: 85.4%
- 20x: 73.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,902,172 (GRCm39) |
D741E |
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,139,351 (GRCm39) |
D1461G |
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,376,706 (GRCm39) |
Y713H |
probably damaging |
Het |
| AW554918 |
A |
G |
18: 25,473,132 (GRCm39) |
E312G |
possibly damaging |
Het |
| Car4 |
G |
A |
11: 84,855,231 (GRCm39) |
A157T |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,585,849 (GRCm39) |
M238K |
probably benign |
Het |
| Ctbp2 |
G |
A |
7: 132,589,974 (GRCm39) |
H397Y |
possibly damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,039,611 (GRCm39) |
M295V |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,488,803 (GRCm39) |
Y586H |
probably benign |
Het |
| Ehbp1l1 |
G |
T |
19: 5,769,603 (GRCm39) |
P567T |
possibly damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,464 (GRCm39) |
I754T |
probably damaging |
Het |
| Esyt2 |
G |
A |
12: 116,329,457 (GRCm39) |
A672T |
probably benign |
Het |
| Evx1 |
G |
T |
6: 52,291,175 (GRCm39) |
E116* |
probably null |
Het |
| Exph5 |
T |
C |
9: 53,286,278 (GRCm39) |
S1120P |
probably damaging |
Het |
| Fam184a |
A |
T |
10: 53,560,450 (GRCm39) |
L515* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,523,996 (GRCm39) |
D525E |
probably benign |
Het |
| Galt |
T |
C |
4: 41,756,764 (GRCm39) |
W135R |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,596,648 (GRCm39) |
C42S |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,610 (GRCm39) |
S186P |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,779,712 (GRCm39) |
E254G |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,278,996 (GRCm39) |
S1509P |
probably damaging |
Het |
| Ky |
T |
A |
9: 102,414,972 (GRCm39) |
S295T |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,801 (GRCm39) |
Y2368* |
probably null |
Het |
| Mtmr4 |
T |
A |
11: 87,501,953 (GRCm39) |
V669E |
probably benign |
Het |
| Myh10 |
C |
T |
11: 68,655,918 (GRCm39) |
R471C |
probably damaging |
Het |
| Nav1 |
G |
A |
1: 135,380,671 (GRCm39) |
T1416I |
unknown |
Het |
| Nrip1 |
A |
C |
16: 76,090,157 (GRCm39) |
S467A |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,695,941 (GRCm39) |
N190Y |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,763 (GRCm39) |
L30Q |
probably null |
Het |
| Or5h25 |
A |
C |
16: 58,930,964 (GRCm39) |
M3R |
probably benign |
Het |
| Pdxp |
A |
G |
15: 78,802,611 (GRCm39) |
S282G |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 21,006,904 (GRCm39) |
S220T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,157,540 (GRCm39) |
V2390E |
probably damaging |
Het |
| Pop1 |
T |
G |
15: 34,529,229 (GRCm39) |
L783R |
probably benign |
Het |
| Rab4b |
A |
G |
7: 26,875,267 (GRCm39) |
V50A |
probably benign |
Het |
| Rtn1 |
T |
A |
12: 72,351,100 (GRCm39) |
T370S |
probably benign |
Het |
| Sdr16c5 |
T |
A |
4: 4,012,423 (GRCm39) |
I123F |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 75,046,991 (GRCm39) |
V1228D |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,963,539 (GRCm39) |
V23A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,313,996 (GRCm39) |
I346N |
probably damaging |
Het |
| Tap1 |
T |
A |
17: 34,412,165 (GRCm39) |
Y457N |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,458,427 (GRCm39) |
P686S |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,965,010 (GRCm39) |
S570P |
unknown |
Het |
| Tmc5 |
A |
T |
7: 118,271,449 (GRCm39) |
M921L |
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,772,462 (GRCm39) |
Y1594C |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,546,008 (GRCm39) |
H1615Q |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,382,037 (GRCm39) |
Y197N |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,845,068 (GRCm39) |
F2051L |
probably damaging |
Het |
| Wdr6 |
C |
T |
9: 108,451,765 (GRCm39) |
C706Y |
probably damaging |
Het |
| Zfand4 |
A |
G |
6: 116,261,736 (GRCm39) |
N100D |
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 |
|
|
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 |
|
R5850:Prf1
|
UTSW |
10 |
61,135,972 (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'- CTCGGTCAGAATGCAAGCAG -3'
(R):5'- CTCAGCTGCAAAATTGGCTAC -3'
Sequencing Primer
(F):5'- TGCAAGCAGAAGCACAAGTTC -3'
(R):5'- CTGCAAAATTGGCTACCTTGGAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation