Incidental Mutation 'R1897:Pitrm1'
| ID |
212069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
039917-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6610131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 401
(V401D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021611
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
| 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 |
possibly damaging
Transcript: ENSMUST00000222485
AA Change: V401D
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.8%
|
| Validation Efficiency |
99% (72/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
A |
G |
1: 155,434,564 (GRCm39) |
S61G |
probably damaging |
Het |
| Acot12 |
A |
G |
13: 91,932,516 (GRCm39) |
N504S |
probably benign |
Het |
| Adcy3 |
C |
T |
12: 4,223,450 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
A |
T |
6: 55,456,179 (GRCm39) |
H168L |
probably damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,206,065 (GRCm39) |
E213G |
probably benign |
Het |
| Aldh1l2 |
G |
T |
10: 83,338,389 (GRCm39) |
T510K |
probably damaging |
Het |
| Apol7e |
A |
T |
15: 77,602,094 (GRCm39) |
M231L |
probably benign |
Het |
| Asb1 |
C |
A |
1: 91,474,647 (GRCm39) |
|
probably null |
Het |
| Atf7ip2 |
C |
T |
16: 10,028,948 (GRCm39) |
P160L |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,895,772 (GRCm39) |
L554P |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,343,908 (GRCm39) |
M884L |
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,418,941 (GRCm39) |
I499V |
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,095,616 (GRCm39) |
D60G |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,095,192 (GRCm39) |
T626A |
possibly damaging |
Het |
| Cep250 |
A |
G |
2: 155,818,015 (GRCm39) |
E789G |
probably damaging |
Het |
| Cmpk2 |
T |
C |
12: 26,524,046 (GRCm39) |
L281P |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,662,943 (GRCm39) |
M198K |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,746,047 (GRCm39) |
R1691C |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,655,595 (GRCm39) |
V90M |
probably damaging |
Het |
| Cul2 |
T |
G |
18: 3,414,164 (GRCm39) |
M86R |
probably benign |
Het |
| Dbndd2 |
T |
C |
2: 164,330,584 (GRCm39) |
F79S |
probably damaging |
Het |
| Dkk1 |
G |
T |
19: 30,526,678 (GRCm39) |
N34K |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,158,745 (GRCm39) |
L619F |
probably benign |
Het |
| Eif2b5 |
T |
C |
16: 20,325,787 (GRCm39) |
V588A |
probably damaging |
Het |
| Elf3 |
A |
T |
1: 135,184,875 (GRCm39) |
Y104N |
probably damaging |
Het |
| Fahd2a |
T |
C |
2: 127,278,530 (GRCm39) |
D272G |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,387,271 (GRCm39) |
C188* |
probably null |
Het |
| Fbxw8 |
T |
C |
5: 118,266,941 (GRCm39) |
Y174C |
probably benign |
Het |
| Gnl1 |
C |
A |
17: 36,299,584 (GRCm39) |
P585Q |
possibly damaging |
Het |
| Greb1l |
T |
C |
18: 10,498,992 (GRCm39) |
S292P |
probably benign |
Het |
| Gsk3b |
G |
A |
16: 38,037,446 (GRCm39) |
|
probably null |
Het |
| Hcls1 |
C |
T |
16: 36,783,005 (GRCm39) |
P452L |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,350,007 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,552,525 (GRCm39) |
S25P |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,928,928 (GRCm39) |
V100A |
probably benign |
Het |
| Isl1 |
C |
T |
13: 116,439,866 (GRCm39) |
E161K |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,162,555 (GRCm39) |
N160K |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,936,182 (GRCm39) |
V619A |
probably damaging |
Het |
| Mpc1 |
G |
A |
17: 8,515,710 (GRCm39) |
R134Q |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,199,523 (GRCm39) |
N1377I |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,195,596 (GRCm39) |
I607V |
probably benign |
Het |
| Or2g1 |
T |
G |
17: 38,107,075 (GRCm39) |
S247A |
probably benign |
Het |
| Or8g53 |
A |
T |
9: 39,683,361 (GRCm39) |
I245K |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 132,994,654 (GRCm39) |
D206G |
possibly damaging |
Het |
| Pipox |
A |
G |
11: 77,773,568 (GRCm39) |
Y228H |
probably damaging |
Het |
| Plod1 |
C |
T |
4: 148,010,657 (GRCm39) |
E265K |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,646,664 (GRCm39) |
|
probably null |
Het |
| Qars1 |
C |
T |
9: 108,391,282 (GRCm39) |
Q7* |
probably null |
Het |
| Rpap2 |
T |
A |
5: 107,780,961 (GRCm39) |
V479E |
possibly damaging |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,421,749 (GRCm39) |
Y723C |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,765,818 (GRCm39) |
M1306K |
probably benign |
Het |
| Sesn3 |
A |
C |
9: 14,219,941 (GRCm39) |
Y110S |
probably damaging |
Het |
| Sgce |
C |
T |
6: 4,691,511 (GRCm39) |
V319I |
probably benign |
Het |
| Slc15a5 |
G |
T |
6: 138,056,762 (GRCm39) |
F51L |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,395,765 (GRCm39) |
C723S |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,027,862 (GRCm39) |
|
probably null |
Het |
| Snx2 |
T |
A |
18: 53,330,950 (GRCm39) |
D138E |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,729,740 (GRCm39) |
L126* |
probably null |
Het |
| Stam |
T |
C |
2: 14,133,837 (GRCm39) |
S195P |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,990,271 (GRCm39) |
I82V |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,072,412 (GRCm39) |
C202* |
probably null |
Het |
| Tecpr2 |
A |
G |
12: 110,899,681 (GRCm39) |
D683G |
probably benign |
Het |
| Tfec |
A |
G |
6: 16,835,307 (GRCm39) |
V157A |
probably damaging |
Het |
| Tff1 |
T |
G |
17: 31,383,912 (GRCm39) |
Q28P |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,314 (GRCm39) |
Y396H |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,307,829 (GRCm39) |
M803K |
probably damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,953,566 (GRCm39) |
K577E |
probably damaging |
Het |
| Vrk1 |
T |
C |
12: 106,002,799 (GRCm39) |
|
probably benign |
Het |
| Wdr20 |
A |
G |
12: 110,760,157 (GRCm39) |
T348A |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGGTGAGTGTGCATTTGAC -3'
(R):5'- CCAGGACATCAAGAGGCTAGTG -3'
Sequencing Primer
(F):5'- TGAGACCATCGGTTTAACGC -3'
(R):5'- GGTAGAGATGGCTCAGTCTCC -3'
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| Posted On |
2014-06-30 |
Incidental Mutation