Incidental Mutation 'R8745:Pitrm1'
ID |
663511 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitrm1
|
Ensembl Gene |
ENSMUSG00000021193 |
Gene Name |
pitrilysin metallepetidase 1 |
Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
MMRRC Submission |
068589-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8745 (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 6603238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 96
(P96L)
|
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: P95L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021611 Gene: ENSMUSG00000021193 AA Change: P95L
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: P96L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.5%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
A |
G |
19: 20,611,807 (GRCm39) |
N377S |
probably benign |
Het |
Aldh3b3 |
A |
T |
19: 4,014,890 (GRCm39) |
Y129F |
possibly damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Ankrd61 |
G |
A |
5: 143,828,237 (GRCm39) |
S246L |
possibly damaging |
Het |
Ccdc187 |
T |
A |
2: 26,170,526 (GRCm39) |
I651F |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Ceacam13 |
T |
A |
7: 17,743,934 (GRCm39) |
S14T |
probably damaging |
Het |
Cfap58 |
A |
T |
19: 47,929,553 (GRCm39) |
K5* |
probably null |
Het |
Col27a1 |
T |
C |
4: 63,144,153 (GRCm39) |
S614P |
probably benign |
Het |
Crlf3 |
T |
A |
11: 79,955,100 (GRCm39) |
E85D |
probably damaging |
Het |
Dennd2b |
T |
A |
7: 109,156,279 (GRCm39) |
H157L |
probably benign |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,221,624 (GRCm39) |
I1243V |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 98,999,345 (GRCm39) |
T177A |
probably benign |
Het |
Dytn |
A |
T |
1: 63,686,606 (GRCm39) |
C355S |
probably benign |
Het |
Efcab3 |
C |
T |
11: 104,749,304 (GRCm39) |
T2340M |
possibly damaging |
Het |
Ehbp1 |
T |
C |
11: 22,119,064 (GRCm39) |
N202S |
possibly damaging |
Het |
Exoc3l2 |
T |
C |
7: 19,215,212 (GRCm39) |
I491T |
unknown |
Het |
Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
Fam53a |
A |
T |
5: 33,767,781 (GRCm39) |
I43N |
probably damaging |
Het |
Fis1 |
G |
T |
5: 136,982,365 (GRCm39) |
|
probably benign |
Het |
Fn1 |
T |
C |
1: 71,676,528 (GRCm39) |
T568A |
probably benign |
Het |
Gba1 |
A |
T |
3: 89,115,180 (GRCm39) |
N404I |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,474,949 (GRCm39) |
Y536C |
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,972,330 (GRCm39) |
E230V |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,555,986 (GRCm39) |
Q1046R |
probably benign |
Het |
Kctd14 |
G |
A |
7: 97,107,445 (GRCm39) |
W233* |
probably null |
Het |
Krt88 |
T |
C |
15: 101,351,460 (GRCm39) |
S156P |
possibly damaging |
Het |
L3mbtl1 |
C |
A |
2: 162,812,137 (GRCm39) |
H727Q |
probably benign |
Het |
Man1c1 |
T |
C |
4: 134,303,295 (GRCm39) |
K400E |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,452,556 (GRCm39) |
Q482L |
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,893,306 (GRCm39) |
V733A |
probably damaging |
Het |
Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
Map4k3 |
G |
A |
17: 80,944,164 (GRCm39) |
R328C |
possibly damaging |
Het |
Marchf7 |
C |
T |
2: 60,067,153 (GRCm39) |
Q558* |
probably null |
Het |
Mepe |
T |
C |
5: 104,485,525 (GRCm39) |
S222P |
possibly damaging |
Het |
Mfap3l |
A |
T |
8: 61,124,958 (GRCm39) |
N400I |
possibly damaging |
Het |
Myom3 |
T |
C |
4: 135,522,509 (GRCm39) |
|
probably null |
Het |
Nav3 |
T |
C |
10: 109,659,311 (GRCm39) |
T769A |
probably benign |
Het |
Ndufb7 |
T |
A |
8: 84,297,518 (GRCm39) |
Y58N |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,530,463 (GRCm39) |
F445L |
probably benign |
Het |
Or1e20-ps1 |
C |
A |
11: 73,324,848 (GRCm39) |
*68L |
probably null |
Het |
Or4c126 |
T |
A |
2: 89,824,076 (GRCm39) |
M113K |
probably damaging |
Het |
Or4p23 |
T |
C |
2: 88,576,408 (GRCm39) |
I275V |
possibly damaging |
Het |
Ovch2 |
G |
A |
7: 107,389,584 (GRCm39) |
S321F |
possibly damaging |
Het |
Pamr1 |
T |
C |
2: 102,441,924 (GRCm39) |
L171P |
probably damaging |
Het |
Pcdhga5 |
T |
C |
18: 37,828,974 (GRCm39) |
V474A |
possibly damaging |
Het |
Pcgf6 |
A |
G |
19: 47,039,159 (GRCm39) |
S34P |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,931,755 (GRCm39) |
F945L |
probably damaging |
Het |
Ranbp1 |
A |
G |
16: 18,065,244 (GRCm39) |
S21P |
possibly damaging |
Het |
Rasgrp2 |
G |
T |
19: 6,463,949 (GRCm39) |
R549L |
probably damaging |
Het |
Rassf10 |
T |
A |
7: 112,554,083 (GRCm39) |
L228Q |
probably damaging |
Het |
Rho |
A |
T |
6: 115,912,483 (GRCm39) |
I275F |
probably damaging |
Het |
Rrp9 |
T |
C |
9: 106,361,657 (GRCm39) |
V400A |
possibly damaging |
Het |
Satb2 |
A |
G |
1: 57,008,796 (GRCm39) |
L62P |
unknown |
Het |
Scmh1 |
T |
A |
4: 120,362,559 (GRCm39) |
L265* |
probably null |
Het |
Scn7a |
A |
G |
2: 66,510,526 (GRCm39) |
M1292T |
probably benign |
Het |
Serpinb10 |
A |
T |
1: 107,474,542 (GRCm39) |
T235S |
probably benign |
Het |
Serpinb6c |
A |
G |
13: 34,064,702 (GRCm39) |
V214A |
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,550,816 (GRCm39) |
I616T |
possibly damaging |
Het |
Shb |
G |
C |
4: 45,458,319 (GRCm39) |
R282G |
probably benign |
Het |
Snx5 |
A |
T |
2: 144,103,932 (GRCm39) |
S22T |
probably benign |
Het |
Spata6 |
T |
C |
4: 111,636,476 (GRCm39) |
F256L |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,805,213 (GRCm39) |
H255R |
probably benign |
Het |
Sva |
T |
A |
6: 42,015,357 (GRCm39) |
M1K |
probably null |
Het |
Tdpoz4 |
A |
T |
3: 93,704,221 (GRCm39) |
T173S |
probably benign |
Het |
Tex9 |
T |
C |
9: 72,389,778 (GRCm39) |
I111V |
probably benign |
Het |
Tigd4 |
A |
G |
3: 84,501,874 (GRCm39) |
I264V |
probably benign |
Het |
Tmem182 |
C |
T |
1: 40,877,536 (GRCm39) |
A137V |
probably damaging |
Het |
Tnfrsf1a |
A |
G |
6: 125,338,745 (GRCm39) |
I385V |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,773,202 (GRCm39) |
F542L |
|
Het |
Tpbpa |
G |
A |
13: 61,087,778 (GRCm39) |
T86I |
possibly damaging |
Het |
Trappc14 |
A |
G |
5: 138,261,327 (GRCm39) |
|
probably null |
Het |
Ubr5 |
G |
A |
15: 38,025,039 (GRCm39) |
P573L |
|
Het |
Usp54 |
A |
G |
14: 20,612,176 (GRCm39) |
I880T |
probably benign |
Het |
Vmn1r9 |
A |
G |
6: 57,048,767 (GRCm39) |
I281V |
probably benign |
Het |
Zfp456 |
C |
A |
13: 67,515,373 (GRCm39) |
C111F |
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 |
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 |
|
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'- AGAGGAAGATCTATGGATTCGTC -3'
(R):5'- GGGTCCTTTCAGCAAAATCTTG -3'
Sequencing Primer
(F):5'- TGGATTCGTCTAAAGATTCTCTCG -3'
(R):5'- GCTGGCATATGCAATAGTGTC -3'
|
Posted On |
2021-03-08 |