Incidental Mutation 'IGL03028:Pitrm1'
ID |
408278 |
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 # |
IGL03028
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 6624429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 831
(H831Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000222485]
|
AlphaFold |
Q8K411 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021611
AA Change: H792Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021611 Gene: ENSMUSG00000021193 AA Change: H792Y
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 |
noncoding transcript
Transcript: ENSMUST00000221431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222061
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222485
AA Change: H831Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223492
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
A |
C |
9: 53,506,062 (GRCm39) |
V86G |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,174,194 (GRCm39) |
W115R |
probably benign |
Het |
Ahr |
G |
A |
12: 35,554,709 (GRCm39) |
A470V |
probably benign |
Het |
Aoah |
A |
T |
13: 21,000,752 (GRCm39) |
Q62L |
possibly damaging |
Het |
Arhgef12 |
A |
T |
9: 42,937,524 (GRCm39) |
D100E |
possibly damaging |
Het |
Asic1 |
A |
G |
15: 99,570,038 (GRCm39) |
N120D |
probably benign |
Het |
Atp2b2 |
A |
G |
6: 113,736,103 (GRCm39) |
L988P |
probably damaging |
Het |
Atxn2 |
T |
A |
5: 121,948,972 (GRCm39) |
H789Q |
probably damaging |
Het |
Clk1 |
G |
T |
1: 58,460,261 (GRCm39) |
S123* |
probably null |
Het |
Col10a1 |
C |
T |
10: 34,271,012 (GRCm39) |
A328V |
probably benign |
Het |
Col26a1 |
G |
T |
5: 136,771,972 (GRCm39) |
D415E |
possibly damaging |
Het |
Ctla2a |
A |
G |
13: 61,083,273 (GRCm39) |
|
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,430,622 (GRCm39) |
E318G |
probably benign |
Het |
Dnajc16 |
C |
T |
4: 141,495,043 (GRCm39) |
W523* |
probably null |
Het |
Ehhadh |
T |
C |
16: 21,581,144 (GRCm39) |
E616G |
probably damaging |
Het |
F5 |
A |
T |
1: 164,020,569 (GRCm39) |
K1015* |
probably null |
Het |
Fam78a |
A |
G |
2: 31,972,894 (GRCm39) |
W9R |
possibly damaging |
Het |
Frs2 |
A |
T |
10: 116,909,838 (GRCm39) |
M508K |
possibly damaging |
Het |
Gm3164 |
A |
T |
14: 4,440,111 (GRCm38) |
M200L |
probably benign |
Het |
Gm44511 |
T |
C |
6: 128,757,358 (GRCm39) |
S179G |
probably damaging |
Het |
Gpr25 |
G |
A |
1: 136,188,550 (GRCm39) |
S21L |
probably benign |
Het |
Hsdl2 |
A |
G |
4: 59,594,471 (GRCm39) |
D34G |
probably damaging |
Het |
Kcnt1 |
A |
G |
2: 25,799,215 (GRCm39) |
|
probably null |
Het |
Kl |
A |
G |
5: 150,915,015 (GRCm39) |
Y914C |
probably damaging |
Het |
Map3k3 |
T |
G |
11: 106,001,577 (GRCm39) |
V45G |
probably damaging |
Het |
Mppe1 |
A |
C |
18: 67,360,755 (GRCm39) |
C261W |
probably damaging |
Het |
Nin |
T |
C |
12: 70,082,044 (GRCm39) |
T1640A |
probably benign |
Het |
Or51a8 |
T |
A |
7: 102,550,036 (GRCm39) |
I154N |
possibly damaging |
Het |
Or51ac3 |
A |
G |
7: 103,213,796 (GRCm39) |
|
probably null |
Het |
Or5c1 |
C |
T |
2: 37,221,968 (GRCm39) |
L70F |
probably damaging |
Het |
Or5p59 |
T |
A |
7: 107,703,380 (GRCm39) |
M288K |
probably damaging |
Het |
Or7g26 |
A |
T |
9: 19,230,664 (GRCm39) |
Y284F |
probably damaging |
Het |
Oxr1 |
A |
G |
15: 41,680,559 (GRCm39) |
N166D |
probably damaging |
Het |
Pank4 |
T |
A |
4: 155,054,442 (GRCm39) |
|
probably benign |
Het |
Pgd |
A |
G |
4: 149,246,084 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Rad51 |
A |
C |
2: 118,946,795 (GRCm39) |
M1L |
possibly damaging |
Het |
Recql5 |
G |
T |
11: 115,785,257 (GRCm39) |
S746R |
possibly damaging |
Het |
Rhbdl3 |
C |
T |
11: 80,214,287 (GRCm39) |
Q133* |
probably null |
Het |
Rpp40 |
A |
T |
13: 36,088,494 (GRCm39) |
L59Q |
probably damaging |
Het |
Rtca |
C |
A |
3: 116,286,741 (GRCm39) |
|
probably benign |
Het |
Rtkn |
C |
T |
6: 83,124,853 (GRCm39) |
Q108* |
probably null |
Het |
Shoc1 |
A |
C |
4: 59,094,274 (GRCm39) |
I150S |
possibly damaging |
Het |
Sirt6 |
C |
T |
10: 81,463,375 (GRCm39) |
|
probably benign |
Het |
Slc9a4 |
G |
A |
1: 40,649,537 (GRCm39) |
V517M |
probably benign |
Het |
Smarca2 |
G |
T |
19: 26,655,712 (GRCm39) |
|
probably benign |
Het |
Snx33 |
A |
T |
9: 56,833,735 (GRCm39) |
D111E |
probably benign |
Het |
Tgfb1 |
T |
C |
7: 25,403,621 (GRCm39) |
I311T |
probably damaging |
Het |
Tgfb2 |
C |
T |
1: 186,362,806 (GRCm39) |
|
probably null |
Het |
Tmem232 |
T |
C |
17: 65,563,384 (GRCm39) |
T670A |
probably benign |
Het |
Tnfsf4 |
T |
C |
1: 161,223,213 (GRCm39) |
F21L |
possibly damaging |
Het |
Ubr5 |
T |
C |
15: 38,047,837 (GRCm39) |
T47A |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,139,785 (GRCm39) |
V2515A |
possibly damaging |
Het |
Utp6 |
T |
C |
11: 79,844,450 (GRCm39) |
K192E |
probably damaging |
Het |
Vmn2r102 |
T |
C |
17: 19,914,328 (GRCm39) |
F631S |
possibly damaging |
Het |
Zfp516 |
A |
C |
18: 82,974,038 (GRCm39) |
I79L |
possibly 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 |
IGL02935:Pitrm1
|
APN |
13 |
6,603,300 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |