Incidental Mutation 'R7249:Pitrm1'
ID |
563773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitrm1
|
Ensembl Gene |
ENSMUSG00000021193 |
Gene Name |
pitrilysin metallepetidase 1 |
Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
MMRRC Submission |
045312-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7249 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 6610161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 411
(T411I)
|
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 |
probably damaging
Transcript: ENSMUST00000222485
AA Change: T411I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
T |
C |
8: 79,974,970 (GRCm39) |
T38A |
probably benign |
Het |
3425401B19Rik |
G |
T |
14: 32,385,271 (GRCm39) |
S231R |
possibly damaging |
Het |
Abi1 |
T |
C |
2: 22,847,101 (GRCm39) |
E250G |
possibly damaging |
Het |
Actl6b |
T |
A |
5: 137,553,347 (GRCm39) |
S120T |
probably damaging |
Het |
Adgrv1 |
G |
A |
13: 81,522,378 (GRCm39) |
H5920Y |
probably damaging |
Het |
Adra2c |
G |
A |
5: 35,438,299 (GRCm39) |
R357H |
probably damaging |
Het |
Ap3d1 |
T |
C |
10: 80,577,767 (GRCm39) |
D20G |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,506,583 (GRCm39) |
D847E |
possibly damaging |
Het |
Cacna1d |
T |
C |
14: 29,864,660 (GRCm39) |
E434G |
probably damaging |
Het |
Carm1 |
T |
C |
9: 21,497,505 (GRCm39) |
Y356H |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,741,663 (GRCm39) |
K1075R |
probably damaging |
Het |
Cyp27b1 |
G |
T |
10: 126,886,918 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
A |
T |
6: 38,113,885 (GRCm39) |
V1769D |
possibly damaging |
Het |
Dchs2 |
C |
T |
3: 83,035,336 (GRCm39) |
Q28* |
probably null |
Het |
Dpp4 |
A |
G |
2: 62,215,547 (GRCm39) |
F107L |
probably benign |
Het |
Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
Faap24 |
A |
G |
7: 35,094,485 (GRCm39) |
V105A |
probably benign |
Het |
Gabra6 |
A |
T |
11: 42,208,259 (GRCm39) |
D166E |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,033,126 (GRCm39) |
E117G |
probably damaging |
Het |
H2-T10 |
T |
C |
17: 36,430,269 (GRCm39) |
D224G |
probably damaging |
Het |
Hspa12a |
T |
A |
19: 58,793,865 (GRCm39) |
E332V |
probably benign |
Het |
Htr5b |
T |
A |
1: 121,438,203 (GRCm39) |
N343Y |
probably damaging |
Het |
Irf8 |
C |
A |
8: 121,466,571 (GRCm39) |
N5K |
possibly damaging |
Het |
Itgb1 |
C |
A |
8: 129,446,885 (GRCm39) |
Q467K |
probably benign |
Het |
Itpr2 |
C |
A |
6: 146,212,550 (GRCm39) |
C1522F |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,025,596 (GRCm39) |
L138I |
probably benign |
Het |
Lrrc8b |
G |
T |
5: 105,629,133 (GRCm39) |
R493L |
probably benign |
Het |
Malrd1 |
G |
T |
2: 15,628,151 (GRCm39) |
C400F |
probably damaging |
Het |
Marchf8 |
G |
A |
6: 116,383,195 (GRCm39) |
E257K |
probably benign |
Het |
Mastl |
G |
A |
2: 23,036,151 (GRCm39) |
H122Y |
probably damaging |
Het |
Mis18a |
T |
C |
16: 90,523,202 (GRCm39) |
K98R |
possibly damaging |
Het |
Msra |
A |
G |
14: 64,678,212 (GRCm39) |
V28A |
probably benign |
Het |
Mtmr7 |
A |
G |
8: 41,043,520 (GRCm39) |
V177A |
probably benign |
Het |
Nelfcd |
T |
C |
2: 174,264,999 (GRCm39) |
|
probably null |
Het |
Nemp1 |
T |
C |
10: 127,529,395 (GRCm39) |
S226P |
probably damaging |
Het |
Nmnat1 |
G |
A |
4: 149,554,099 (GRCm39) |
T147I |
probably null |
Het |
Ntng2 |
A |
G |
2: 29,118,004 (GRCm39) |
V148A |
probably benign |
Het |
Nup214 |
A |
G |
2: 31,878,245 (GRCm39) |
H304R |
possibly damaging |
Het |
Or4a2 |
T |
C |
2: 89,248,217 (GRCm39) |
Y180C |
probably damaging |
Het |
Phldb2 |
C |
A |
16: 45,621,977 (GRCm39) |
A623S |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,974,773 (GRCm39) |
R429Q |
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,849,741 (GRCm39) |
|
probably null |
Het |
Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
Pnp |
G |
A |
14: 51,188,887 (GRCm39) |
V227I |
probably benign |
Het |
Pskh1 |
T |
C |
8: 106,639,886 (GRCm39) |
S189P |
possibly damaging |
Het |
Rbpms2 |
T |
G |
9: 65,556,632 (GRCm39) |
V24G |
probably damaging |
Het |
Robo3 |
T |
A |
9: 37,336,129 (GRCm39) |
I446L |
probably benign |
Het |
Septin8 |
A |
T |
11: 53,425,949 (GRCm39) |
K174I |
probably damaging |
Het |
Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
Slco4a1 |
A |
G |
2: 180,106,604 (GRCm39) |
Y262C |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Spidr |
T |
C |
16: 15,784,512 (GRCm39) |
S519G |
probably benign |
Het |
Ssx2ip |
A |
G |
3: 146,132,193 (GRCm39) |
N218S |
possibly damaging |
Het |
Svil |
T |
C |
18: 5,056,270 (GRCm39) |
V381A |
probably benign |
Het |
Svil |
T |
C |
18: 5,062,247 (GRCm39) |
S769P |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,061,732 (GRCm39) |
C2595S |
possibly damaging |
Het |
Tiam1 |
T |
C |
16: 89,640,143 (GRCm39) |
Y858C |
probably damaging |
Het |
Tie1 |
A |
G |
4: 118,343,425 (GRCm39) |
V146A |
probably benign |
Het |
Traf3ip1 |
G |
T |
1: 91,455,361 (GRCm39) |
E578D |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,324,663 (GRCm39) |
Y247C |
probably damaging |
Het |
Tsc2 |
A |
G |
17: 24,826,729 (GRCm39) |
W896R |
probably damaging |
Het |
Vmn1r157 |
T |
C |
7: 22,461,125 (GRCm39) |
S2P |
probably benign |
Het |
Xkr4 |
T |
A |
1: 3,287,033 (GRCm39) |
T386S |
probably damaging |
Het |
Zdhhc24 |
T |
G |
19: 4,928,889 (GRCm39) |
V38G |
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 |
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 |
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'- TAAAAGCCTTCAGTCCTGATGTC -3'
(R):5'- CACTCCATCAATCTGTGCCAG -3'
Sequencing Primer
(F):5'- GTCCTGATGTCAGTAGAGTACATCC -3'
(R):5'- TCTGTGCCAGAAAGAAATCCAG -3'
|
Posted On |
2019-06-26 |