Incidental Mutation 'IGL02159:Parl'
| ID |
282384 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Parl
|
| Ensembl Gene |
ENSMUSG00000033918 |
| Gene Name |
presenilin associated, rhomboid-like |
| Synonyms |
D16Ertd607e, PSENIP2, PRO2207, Psarl, PSARL1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
IGL02159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20098570-20121090 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 20098838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048642]
[ENSMUST00000136252]
[ENSMUST00000152887]
[ENSMUST00000232036]
[ENSMUST00000232484]
|
| AlphaFold |
Q5XJY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048642
|
| SMART Domains |
Protein: ENSMUSP00000045361
Gene: ENSMUSG00000033918
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231547
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232036
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232484
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,446,527 (GRCm39) |
L257S |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,264,545 (GRCm39) |
S2976G |
probably benign |
Het |
| Afmid |
T |
C |
11: 117,727,252 (GRCm39) |
W267R |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,934,076 (GRCm39) |
K969R |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,571,638 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,644,722 (GRCm39) |
H62R |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,256,793 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
G |
A |
10: 112,039,928 (GRCm39) |
V457M |
probably benign |
Het |
| Capza1 |
T |
C |
3: 104,771,687 (GRCm39) |
D3G |
possibly damaging |
Het |
| Cav1 |
T |
A |
6: 17,307,971 (GRCm39) |
V41E |
possibly damaging |
Het |
| Celf2 |
G |
T |
2: 6,608,988 (GRCm39) |
C264* |
probably null |
Het |
| Clec4a2 |
C |
T |
6: 123,116,285 (GRCm39) |
S150L |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,129 (GRCm39) |
D181E |
possibly damaging |
Het |
| Epyc |
A |
G |
10: 97,506,493 (GRCm39) |
E100G |
probably benign |
Het |
| Hdac11 |
A |
G |
6: 91,150,084 (GRCm39) |
I294M |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,150,991 (GRCm39) |
|
probably null |
Het |
| Hsdl1 |
A |
G |
8: 120,293,153 (GRCm39) |
V73A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,516,341 (GRCm39) |
S2501T |
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,945,683 (GRCm39) |
F133I |
probably benign |
Het |
| Map3k19 |
C |
A |
1: 127,750,907 (GRCm39) |
G815C |
probably benign |
Het |
| Muc13 |
C |
A |
16: 33,619,849 (GRCm39) |
T199K |
unknown |
Het |
| Nif3l1 |
G |
T |
1: 58,487,105 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,298,175 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,166,113 (GRCm39) |
S244P |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,805,735 (GRCm39) |
N84I |
probably damaging |
Het |
| Pax8 |
A |
G |
2: 24,330,800 (GRCm39) |
I211T |
possibly damaging |
Het |
| Pglyrp4 |
A |
G |
3: 90,638,160 (GRCm39) |
E158G |
possibly damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,271,057 (GRCm39) |
L478P |
probably benign |
Het |
| Prss3b |
T |
C |
6: 41,009,891 (GRCm39) |
T148A |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,820,965 (GRCm39) |
G338R |
probably damaging |
Het |
| Serpina5 |
T |
C |
12: 104,071,557 (GRCm39) |
L388P |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,316,040 (GRCm39) |
V367A |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,247,404 (GRCm39) |
|
probably benign |
Het |
| Surf1 |
A |
G |
2: 26,805,663 (GRCm39) |
L26P |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,580,263 (GRCm39) |
S486P |
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,939,281 (GRCm39) |
V589E |
probably damaging |
Het |
| Tuba3b |
T |
G |
6: 145,565,392 (GRCm39) |
S287A |
probably benign |
Het |
| Txnrd3 |
G |
A |
6: 89,646,306 (GRCm39) |
R295H |
probably damaging |
Het |
| Ubr5 |
G |
T |
15: 37,991,623 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,896,628 (GRCm39) |
|
probably null |
Het |
| Utp23 |
G |
A |
15: 51,745,761 (GRCm39) |
R87K |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,285,234 (GRCm39) |
I405T |
possibly 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 |
|
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 |
|
R5477:Parl
|
UTSW |
16 |
20,098,824 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation