Incidental Mutation 'R8162:Prf1'
ID |
633583 |
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 |
067588-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8162 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
61133612-61140459 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61138749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 236
(T236A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041483
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035419]
|
AlphaFold |
P10820 |
PDB Structure |
The X-ray crystal structure of lymphocyte perforin [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035419
AA Change: T236A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041483 Gene: ENSMUSG00000037202 AA Change: T236A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
98% (47/48) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol7b |
T |
A |
15: 77,307,430 (GRCm39) |
Q355L |
probably benign |
Het |
Asb14 |
A |
T |
14: 26,633,945 (GRCm39) |
Q383H |
probably benign |
Het |
Ash1l |
T |
G |
3: 88,977,553 (GRCm39) |
M2661R |
probably damaging |
Het |
Cacna1e |
G |
T |
1: 154,577,313 (GRCm39) |
|
probably null |
Het |
Ccdc40 |
G |
T |
11: 119,150,870 (GRCm39) |
|
probably null |
Het |
Cd27 |
T |
A |
6: 125,210,188 (GRCm39) |
|
probably null |
Het |
Ces3b |
T |
C |
8: 105,817,385 (GRCm39) |
L371S |
possibly damaging |
Het |
Clec4a2 |
T |
A |
6: 123,117,711 (GRCm39) |
Y210N |
probably damaging |
Het |
Cpeb2 |
A |
T |
5: 43,394,681 (GRCm39) |
H553L |
|
Het |
Cpne8 |
T |
C |
15: 90,503,881 (GRCm39) |
I95V |
probably benign |
Het |
D630039A03Rik |
T |
C |
4: 57,910,525 (GRCm39) |
T96A |
probably benign |
Het |
Dand5 |
C |
A |
8: 85,543,147 (GRCm39) |
G110C |
probably damaging |
Het |
Erich3 |
C |
T |
3: 154,470,210 (GRCm39) |
T1554M |
unknown |
Het |
Evi5l |
T |
C |
8: 4,241,300 (GRCm39) |
S278P |
probably damaging |
Het |
Farp2 |
C |
A |
1: 93,548,325 (GRCm39) |
H1003Q |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gm13741 |
A |
C |
2: 87,486,446 (GRCm39) |
M273R |
possibly damaging |
Het |
Gm28363 |
T |
A |
1: 117,626,641 (GRCm39) |
D26E |
unknown |
Het |
Gm8674 |
A |
T |
13: 50,054,407 (GRCm39) |
D700E |
noncoding transcript |
Het |
Gtf3c4 |
G |
A |
2: 28,724,593 (GRCm39) |
Q380* |
probably null |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Il1a |
A |
T |
2: 129,148,477 (GRCm39) |
S78T |
possibly damaging |
Het |
Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
Mcc |
T |
C |
18: 44,582,508 (GRCm39) |
|
probably null |
Het |
Met |
A |
G |
6: 17,547,061 (GRCm39) |
D898G |
probably damaging |
Het |
Mogs |
T |
C |
6: 83,092,863 (GRCm39) |
V101A |
probably damaging |
Het |
Mrgpra4 |
A |
T |
7: 47,631,221 (GRCm39) |
Y127N |
probably damaging |
Het |
Ms4a18 |
A |
G |
19: 10,991,071 (GRCm39) |
S8P |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,569,197 (GRCm39) |
T148S |
unknown |
Het |
Nutm1 |
G |
A |
2: 112,078,817 (GRCm39) |
L1033F |
probably benign |
Het |
Ocstamp |
G |
T |
2: 165,239,787 (GRCm39) |
A133D |
probably damaging |
Het |
Or1ab2 |
T |
G |
8: 72,864,253 (GRCm39) |
V281G |
noncoding transcript |
Het |
Or5p63 |
T |
C |
7: 107,810,995 (GRCm39) |
H247R |
probably damaging |
Het |
Or8g17 |
T |
A |
9: 38,930,249 (GRCm39) |
D196V |
probably benign |
Het |
Or9s18 |
G |
A |
13: 65,300,734 (GRCm39) |
R232Q |
probably damaging |
Het |
Phf12 |
C |
A |
11: 77,915,651 (GRCm39) |
P46Q |
probably damaging |
Het |
Ptcd3 |
A |
G |
6: 71,884,798 (GRCm39) |
V47A |
probably benign |
Het |
Rapgef1 |
A |
T |
2: 29,626,011 (GRCm39) |
N1071Y |
probably damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rnf26rt |
C |
A |
6: 76,473,558 (GRCm39) |
A353S |
probably benign |
Het |
Tango6 |
C |
T |
8: 107,409,882 (GRCm39) |
P33L |
possibly damaging |
Het |
Tasor2 |
G |
T |
13: 3,649,691 (GRCm39) |
T36N |
probably damaging |
Het |
Tbc1d2b |
C |
T |
9: 90,089,937 (GRCm39) |
R864H |
probably damaging |
Het |
Tent2 |
A |
G |
13: 93,304,432 (GRCm39) |
|
probably null |
Het |
Trav10n |
A |
T |
14: 53,359,929 (GRCm39) |
I69L |
probably benign |
Het |
Tsks |
A |
G |
7: 44,603,296 (GRCm39) |
Q366R |
probably damaging |
Het |
Vcan |
G |
T |
13: 89,853,106 (GRCm39) |
S618* |
probably null |
Het |
Vwf |
T |
A |
6: 125,622,799 (GRCm39) |
|
probably null |
Het |
Zfp827 |
T |
A |
8: 79,787,206 (GRCm39) |
L124* |
probably null |
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 |
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 |
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'- CCACAGTTTTCGCCTGGTAC -3'
(R):5'- AGATCATGCGTGGAGTCCAG -3'
Sequencing Primer
(F):5'- GTTTTCGCCTGGTACAAAAACC -3'
(R):5'- AAGTACTTCGACGTGACGCTC -3'
|
Posted On |
2020-07-13 |