Incidental Mutation 'R4020:Pitrm1'
| ID |
312752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
040954-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4020 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6606723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 259
(H259R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000221911]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021611
AA Change: H258R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: H258R
| 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: H259R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6764 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
C |
8: 89,035,362 (GRCm39) |
V89L |
probably benign |
Het |
| Aebp2 |
T |
A |
6: 140,588,021 (GRCm39) |
S364T |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,388 (GRCm39) |
T206I |
probably benign |
Het |
| Ap4e1 |
C |
T |
2: 126,903,846 (GRCm39) |
S916F |
probably benign |
Het |
| Apob |
C |
T |
12: 8,044,914 (GRCm39) |
Q845* |
probably null |
Het |
| Asb4 |
A |
G |
6: 5,390,803 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,066,724 (GRCm39) |
|
probably benign |
Het |
| C1ra |
A |
T |
6: 124,496,736 (GRCm39) |
T391S |
probably benign |
Het |
| Catsperg2 |
C |
A |
7: 29,416,429 (GRCm39) |
D328Y |
probably damaging |
Het |
| Ciapin1 |
G |
T |
8: 95,555,814 (GRCm39) |
L119M |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,077,765 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,406,407 (GRCm39) |
S455P |
probably benign |
Het |
| Dctn4 |
G |
A |
18: 60,671,329 (GRCm39) |
|
probably benign |
Het |
| Defa25 |
C |
T |
8: 21,575,245 (GRCm39) |
R75C |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,175,296 (GRCm39) |
L561P |
probably damaging |
Het |
| Dnajc7 |
A |
T |
11: 100,482,292 (GRCm39) |
F185L |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,844,267 (GRCm39) |
I1175V |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,837,422 (GRCm39) |
L302R |
possibly damaging |
Het |
| Efcab5 |
C |
T |
11: 76,994,930 (GRCm39) |
V1214I |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,419,686 (GRCm39) |
R260H |
probably damaging |
Het |
| Fam168b |
T |
C |
1: 34,867,860 (GRCm39) |
T47A |
possibly damaging |
Het |
| Gorasp1 |
G |
A |
9: 119,757,936 (GRCm39) |
R290C |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,539,351 (GRCm39) |
S94P |
possibly damaging |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Impdh1 |
T |
C |
6: 29,202,693 (GRCm39) |
I446V |
probably benign |
Het |
| Krtap5-1 |
T |
C |
7: 141,850,094 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
A |
19: 33,764,804 (GRCm39) |
I17L |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,506,119 (GRCm39) |
S1950P |
probably benign |
Het |
| Lss |
T |
C |
10: 76,383,278 (GRCm39) |
M526T |
probably damaging |
Het |
| Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
| Mtrf1l |
T |
C |
10: 5,767,454 (GRCm39) |
T221A |
probably benign |
Het |
| Muc21 |
T |
C |
17: 35,930,953 (GRCm39) |
|
probably benign |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nfrkb |
T |
A |
9: 31,325,407 (GRCm39) |
L950Q |
possibly damaging |
Het |
| Nherf4 |
A |
T |
9: 44,162,117 (GRCm39) |
|
probably null |
Het |
| Oplah |
A |
G |
15: 76,181,476 (GRCm39) |
Y1155H |
probably damaging |
Het |
| Or5b105 |
T |
G |
19: 13,079,790 (GRCm39) |
K287Q |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,018 (GRCm39) |
T395I |
probably damaging |
Het |
| Pllp |
C |
A |
8: 95,406,072 (GRCm39) |
M70I |
possibly damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,926 (GRCm39) |
T334A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,968,894 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 22,959,623 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,455,390 (GRCm39) |
S170G |
probably damaging |
Het |
| Sco1 |
T |
G |
11: 66,954,846 (GRCm39) |
S284A |
probably benign |
Het |
| Slc25a10 |
T |
A |
11: 120,388,265 (GRCm39) |
M227K |
probably damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,638 (GRCm39) |
K56R |
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,179,116 (GRCm39) |
C3322G |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,151,182 (GRCm39) |
Y608H |
probably damaging |
Het |
| Zfand1 |
A |
C |
3: 10,405,816 (GRCm39) |
N262K |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,743,380 (GRCm39) |
R536H |
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 |
|
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 |
|
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'- GGTGGCCTTTGATTGACAAG -3'
(R):5'- ACACTGCCACCTGAGAGTTATAG -3'
Sequencing Primer
(F):5'- GGCCTTTGATTGACAAGTATTTTC -3'
(R):5'- CCACCTGAGAGTTATAGCTGTTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation