Incidental Mutation 'R1237:Prf1'
| ID |
152463 |
| 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 |
039304-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
61133612-61140459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 61139428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 462
(D462A)
|
| 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: D462A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000041483
Gene: ENSMUSG00000037202
AA Change: D462A
| 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: D462A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
C |
5: 105,096,223 (GRCm39) |
T500A |
probably damaging |
Het |
| Amz1 |
A |
T |
5: 140,727,039 (GRCm39) |
M1L |
probably damaging |
Het |
| Angptl1 |
T |
A |
1: 156,686,154 (GRCm39) |
N413K |
probably damaging |
Het |
| Ankrd13b |
T |
C |
11: 77,365,400 (GRCm39) |
T70A |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Ccdc174 |
C |
T |
6: 91,867,768 (GRCm39) |
|
probably benign |
Het |
| Ccnc |
T |
A |
4: 21,730,457 (GRCm39) |
F31L |
probably benign |
Het |
| Celsr1 |
A |
C |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,839,107 (GRCm39) |
D65E |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,632,393 (GRCm39) |
N4504S |
probably benign |
Het |
| Enthd1 |
A |
G |
15: 80,418,799 (GRCm39) |
S167P |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,497,316 (GRCm39) |
Y4267F |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,459,570 (GRCm39) |
A813V |
possibly damaging |
Het |
| Ibtk |
T |
C |
9: 85,602,801 (GRCm39) |
S735G |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,109,490 (GRCm39) |
I230V |
probably null |
Het |
| Kcnh8 |
A |
T |
17: 53,200,988 (GRCm39) |
Q474L |
probably damaging |
Het |
| Kcnh8 |
G |
T |
17: 53,200,989 (GRCm39) |
Q474H |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,768,149 (GRCm39) |
T466I |
probably damaging |
Het |
| Or12d12 |
T |
A |
17: 37,611,156 (GRCm39) |
R52S |
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or2l5 |
A |
C |
16: 19,334,375 (GRCm39) |
Y4D |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Prdx6b |
A |
G |
2: 80,123,520 (GRCm39) |
I110V |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,541,964 (GRCm39) |
D391G |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,510,639 (GRCm39) |
N1254K |
probably damaging |
Het |
| Skor2 |
A |
T |
18: 76,963,827 (GRCm39) |
K924* |
probably null |
Het |
| Slc22a21 |
A |
G |
11: 53,870,598 (GRCm39) |
I29T |
probably benign |
Het |
| Tas2r140 |
T |
C |
6: 133,032,171 (GRCm39) |
T196A |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,073,862 (GRCm39) |
S295P |
probably benign |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Ubtd2 |
C |
T |
11: 32,466,125 (GRCm39) |
R115W |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,985,228 (GRCm39) |
E12G |
possibly damaging |
Het |
| Vgll3 |
T |
A |
16: 65,636,459 (GRCm39) |
Y203* |
probably null |
Het |
| Vmn1r212 |
G |
A |
13: 23,067,638 (GRCm39) |
Q232* |
probably null |
Het |
| Vmn2r107 |
T |
A |
17: 20,576,947 (GRCm39) |
L315* |
probably null |
Het |
| Vmn2r84 |
T |
A |
10: 130,223,725 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,210,757 (GRCm39) |
|
probably benign |
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 |
|
|
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'- AGCCCCTGCACACATTACTGGAAG -3'
(R):5'- CGTGGTTTAGCTCACATGTCACCTC -3'
Sequencing Primer
(F):5'- AGCCATGATTCATGCCAGTG -3'
(R):5'- TGTCACCTCATGGAAACCAGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation