Incidental Mutation 'R5477:Parl'
| ID |
434133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parl
|
| Ensembl Gene |
ENSMUSG00000033918 |
| Gene Name |
presenilin associated, rhomboid-like |
| Synonyms |
D16Ertd607e, PSENIP2, PRO2207, Psarl, PSARL1 |
| MMRRC Submission |
043038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R5477 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
20098570-20121090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 20098824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 311
(T311K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048642]
[ENSMUST00000136252]
[ENSMUST00000152887]
[ENSMUST00000232036]
[ENSMUST00000232484]
|
| AlphaFold |
Q5XJY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048642
AA Change: T345K
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000045361
Gene: ENSMUSG00000033918
AA Change: T345K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
100 |
119 |
N/A |
INTRINSIC |
|
transmembrane domain
|
166 |
185 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid
|
199 |
351 |
9.4e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123070
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136252
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152887
AA Change: T156K
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231547
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232036
AA Change: T311K
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232484
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
| Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
| Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,487,164 (GRCm39) |
M157V |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
| Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
T |
C |
14: 57,937,010 (GRCm39) |
D113G |
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,570 (GRCm39) |
Y94C |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
| Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,656,511 (GRCm39) |
R396C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
| Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
| Sox7 |
A |
G |
14: 64,185,945 (GRCm39) |
Y327C |
probably damaging |
Het |
| Spdl1 |
A |
T |
11: 34,713,037 (GRCm39) |
F288I |
possibly damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,174 (GRCm39) |
T130I |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
| Trim30d |
T |
A |
7: 104,121,347 (GRCm39) |
Y316F |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,949,378 (GRCm39) |
Y194C |
probably damaging |
Het |
|
| Other mutations in Parl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Parl
|
APN |
16 |
20,116,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01013:Parl
|
APN |
16 |
20,101,540 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02159:Parl
|
APN |
16 |
20,098,838 (GRCm39) |
splice site |
probably benign |
|
|
IGL02189:Parl
|
APN |
16 |
20,116,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Parl
|
UTSW |
16 |
20,106,657 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1301:Parl
|
UTSW |
16 |
20,105,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Parl
|
UTSW |
16 |
20,121,077 (GRCm39) |
start codon destroyed |
possibly damaging |
0.95 |
|
R1955:Parl
|
UTSW |
16 |
20,121,077 (GRCm39) |
start codon destroyed |
possibly damaging |
0.95 |
|
R2353:Parl
|
UTSW |
16 |
20,105,790 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3884:Parl
|
UTSW |
16 |
20,101,762 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5345:Parl
|
UTSW |
16 |
20,116,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5567:Parl
|
UTSW |
16 |
20,101,762 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5687:Parl
|
UTSW |
16 |
20,106,728 (GRCm39) |
intron |
probably benign |
|
|
R6238:Parl
|
UTSW |
16 |
20,120,963 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7311:Parl
|
UTSW |
16 |
20,106,625 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8028:Parl
|
UTSW |
16 |
20,098,801 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8971:Parl
|
UTSW |
16 |
20,116,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Parl
|
UTSW |
16 |
20,105,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACATTTAAATCACTGGGGTGG -3'
(R):5'- AGCGTGACTGGCATTTTATTTGAAG -3'
Sequencing Primer
(F):5'- GCCGATGCTGAGACTTTCCAAG -3'
(R):5'- ATGACCTCACAAGTGAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation