Incidental Mutation 'IGL02935:Pitrm1'
| ID |
364283 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02935
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6603300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 116
(Y116N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000221911]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021611
AA Change: Y116N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: Y116N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
93 |
188 |
1.8e-7 |
PFAM |
|
Pfam:Peptidase_M16_C
|
244 |
431 |
4.7e-27 |
PFAM |
|
M16C_associated
|
504 |
752 |
2.8e-114 |
SMART |
|
Pfam:Peptidase_M16_C
|
771 |
958 |
2.8e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220454
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221911
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222485
AA Change: Y117N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| 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 is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous null mice show complete preweaning lethality. Heterozygotes show progressive ataxia, neurodegeneration, and accumulation of amyloid beta deposits. Mitochondria show impaired degradation rate of amyloid beta. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
G |
A |
13: 54,709,675 (GRCm39) |
P13L |
possibly damaging |
Het |
| A930016O22Rik |
A |
T |
7: 19,154,338 (GRCm39) |
|
probably benign |
Het |
| Ajuba |
A |
G |
14: 54,807,924 (GRCm39) |
F436S |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,971,625 (GRCm39) |
A961S |
probably damaging |
Het |
| Brca1 |
A |
G |
11: 101,380,693 (GRCm39) |
V1780A |
probably benign |
Het |
| Bub1 |
A |
G |
2: 127,643,215 (GRCm39) |
L1043S |
probably damaging |
Het |
| Cngb3 |
T |
A |
4: 19,425,491 (GRCm39) |
M433K |
possibly damaging |
Het |
| Col4a1 |
T |
C |
8: 11,269,166 (GRCm39) |
D928G |
probably damaging |
Het |
| Colq |
G |
A |
14: 31,257,591 (GRCm39) |
P259S |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,273,348 (GRCm39) |
Y828C |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,520,514 (GRCm39) |
R448G |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,712,182 (GRCm39) |
D1435G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,225,926 (GRCm39) |
L1188* |
probably null |
Het |
| Duox1 |
G |
T |
2: 122,155,000 (GRCm39) |
G462C |
possibly damaging |
Het |
| Flcn |
A |
T |
11: 59,686,062 (GRCm39) |
I402N |
possibly damaging |
Het |
| Fuca2 |
G |
A |
10: 13,383,063 (GRCm39) |
E344K |
probably null |
Het |
| Golim4 |
T |
C |
3: 75,802,299 (GRCm39) |
H331R |
possibly damaging |
Het |
| Grid1 |
A |
T |
14: 34,544,515 (GRCm39) |
I29F |
possibly damaging |
Het |
| Hltf |
T |
A |
3: 20,123,215 (GRCm39) |
F201Y |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,691,339 (GRCm39) |
I677N |
probably benign |
Het |
| Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,159,104 (GRCm39) |
H92L |
probably damaging |
Het |
| Mlec |
C |
A |
5: 115,295,873 (GRCm39) |
R74L |
probably benign |
Het |
| Mrpl58 |
G |
A |
11: 115,301,054 (GRCm39) |
|
probably benign |
Het |
| Mtch1 |
T |
C |
17: 29,555,184 (GRCm39) |
D288G |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,582,990 (GRCm39) |
E1090G |
probably benign |
Het |
| Nicn1 |
A |
G |
9: 108,167,845 (GRCm39) |
N39S |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,701 (GRCm39) |
S293P |
probably benign |
Het |
| Or2bd2 |
G |
A |
7: 6,443,753 (GRCm39) |
V285M |
possibly damaging |
Het |
| Or51b4 |
T |
C |
7: 103,530,871 (GRCm39) |
N193S |
probably damaging |
Het |
| Or5al1 |
G |
T |
2: 85,990,714 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
T |
A |
14: 88,704,438 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,714,128 (GRCm39) |
V365F |
probably damaging |
Het |
| Penk |
A |
G |
4: 4,133,843 (GRCm39) |
F268S |
probably damaging |
Het |
| Prex1 |
C |
A |
2: 166,412,265 (GRCm39) |
G389C |
probably damaging |
Het |
| Ptch2 |
C |
T |
4: 116,971,967 (GRCm39) |
A1163V |
probably damaging |
Het |
| Rasgrp3 |
G |
A |
17: 75,804,065 (GRCm39) |
V123I |
probably benign |
Het |
| Slc36a2 |
G |
T |
11: 55,060,854 (GRCm39) |
N185K |
possibly damaging |
Het |
| Sox9 |
G |
T |
11: 112,676,175 (GRCm39) |
G455C |
probably damaging |
Het |
| St6galnac1 |
G |
T |
11: 116,660,171 (GRCm39) |
D47E |
probably benign |
Het |
| Taar5 |
A |
T |
10: 23,847,415 (GRCm39) |
D271V |
probably damaging |
Het |
| Top3a |
A |
T |
11: 60,653,354 (GRCm39) |
I85K |
possibly damaging |
Het |
| Ttll8 |
T |
A |
15: 88,798,759 (GRCm39) |
M659L |
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,988,112 (GRCm39) |
R656C |
probably damaging |
Het |
|
| Other mutations in Pitrm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Pitrm1
|
APN |
13 |
6,618,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01148:Pitrm1
|
APN |
13 |
6,623,141 (GRCm39) |
missense |
probably benign |
|
|
IGL01408:Pitrm1
|
APN |
13 |
6,623,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01557:Pitrm1
|
APN |
13 |
6,602,720 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01803:Pitrm1
|
APN |
13 |
6,629,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02111:Pitrm1
|
APN |
13 |
6,623,181 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02217:Pitrm1
|
APN |
13 |
6,617,377 (GRCm39) |
splice site |
probably benign |
|
|
IGL02539:Pitrm1
|
APN |
13 |
6,618,792 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03028:Pitrm1
|
APN |
13 |
6,624,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03112:Pitrm1
|
APN |
13 |
6,615,044 (GRCm39) |
missense |
probably benign |
0.10 |
|
FR4737:Pitrm1
|
UTSW |
13 |
6,610,632 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
FR4976:Pitrm1
|
UTSW |
13 |
6,610,632 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0078:Pitrm1
|
UTSW |
13 |
6,625,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0085:Pitrm1
|
UTSW |
13 |
6,599,604 (GRCm39) |
splice site |
probably benign |
|
|
R0089:Pitrm1
|
UTSW |
13 |
6,605,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Pitrm1
|
UTSW |
13 |
6,625,115 (GRCm39) |
nonsense |
probably null |
|
|
R0234:Pitrm1
|
UTSW |
13 |
6,625,115 (GRCm39) |
nonsense |
probably null |
|
|
R0478:Pitrm1
|
UTSW |
13 |
6,609,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0496:Pitrm1
|
UTSW |
13 |
6,618,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Pitrm1
|
UTSW |
13 |
6,608,280 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1061:Pitrm1
|
UTSW |
13 |
6,605,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1110:Pitrm1
|
UTSW |
13 |
6,608,280 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1170:Pitrm1
|
UTSW |
13 |
6,602,780 (GRCm39) |
splice site |
probably benign |
|
|
R1373:Pitrm1
|
UTSW |
13 |
6,620,736 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1563:Pitrm1
|
UTSW |
13 |
6,613,506 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1897:Pitrm1
|
UTSW |
13 |
6,610,131 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1985:Pitrm1
|
UTSW |
13 |
6,608,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Pitrm1
|
UTSW |
13 |
6,605,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Pitrm1
|
UTSW |
13 |
6,607,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Pitrm1
|
UTSW |
13 |
6,607,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Pitrm1
|
UTSW |
13 |
6,619,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:Pitrm1
|
UTSW |
13 |
6,619,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2260:Pitrm1
|
UTSW |
13 |
6,610,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Pitrm1
|
UTSW |
13 |
6,625,128 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3409:Pitrm1
|
UTSW |
13 |
6,628,517 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3756:Pitrm1
|
UTSW |
13 |
6,608,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4020:Pitrm1
|
UTSW |
13 |
6,606,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Pitrm1
|
UTSW |
13 |
6,629,809 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4540:Pitrm1
|
UTSW |
13 |
6,605,506 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4579:Pitrm1
|
UTSW |
13 |
6,608,261 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4659:Pitrm1
|
UTSW |
13 |
6,603,218 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4685:Pitrm1
|
UTSW |
13 |
6,606,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4888:Pitrm1
|
UTSW |
13 |
6,628,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Pitrm1
|
UTSW |
13 |
6,603,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:Pitrm1
|
UTSW |
13 |
6,617,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5383:Pitrm1
|
UTSW |
13 |
6,627,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Pitrm1
|
UTSW |
13 |
6,603,306 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5606:Pitrm1
|
UTSW |
13 |
6,610,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Pitrm1
|
UTSW |
13 |
6,615,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Pitrm1
|
UTSW |
13 |
6,610,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6898:Pitrm1
|
UTSW |
13 |
6,605,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Pitrm1
|
UTSW |
13 |
6,628,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7249:Pitrm1
|
UTSW |
13 |
6,610,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Pitrm1
|
UTSW |
13 |
6,606,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7363:Pitrm1
|
UTSW |
13 |
6,619,387 (GRCm39) |
missense |
probably benign |
|
|
R7502:Pitrm1
|
UTSW |
13 |
6,610,658 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7647:Pitrm1
|
UTSW |
13 |
6,605,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8392:Pitrm1
|
UTSW |
13 |
6,599,696 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8514:Pitrm1
|
UTSW |
13 |
6,618,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8745:Pitrm1
|
UTSW |
13 |
6,603,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Pitrm1
|
UTSW |
13 |
6,628,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8934:Pitrm1
|
UTSW |
13 |
6,606,666 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9086:Pitrm1
|
UTSW |
13 |
6,627,517 (GRCm39) |
missense |
probably benign |
|
|
R9369:Pitrm1
|
UTSW |
13 |
6,603,280 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9417:Pitrm1
|
UTSW |
13 |
6,617,394 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9566:Pitrm1
|
UTSW |
13 |
6,613,452 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9616:Pitrm1
|
UTSW |
13 |
6,605,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation