Incidental Mutation 'R0781:Pitrm1'
| ID |
76650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
038961-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0781 (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 6608280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 335
(D335G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000221911]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021611
AA Change: D335G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: D335G
| 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 benign
Transcript: ENSMUST00000222485
AA Change: D336G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Meta Mutation Damage Score |
0.4453 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.2%
|
| Validation Efficiency |
97% (67/69) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
G |
T |
17: 79,935,180 (GRCm39) |
A98S |
probably benign |
Het |
| Acp2 |
A |
G |
2: 91,038,767 (GRCm39) |
|
probably null |
Het |
| Akap13 |
T |
G |
7: 75,261,125 (GRCm39) |
S447A |
possibly damaging |
Het |
| Alk |
G |
A |
17: 72,291,740 (GRCm39) |
|
probably benign |
Het |
| Ankrd55 |
A |
G |
13: 112,517,767 (GRCm39) |
|
probably benign |
Het |
| Arhgef39 |
T |
C |
4: 43,496,834 (GRCm39) |
T327A |
probably benign |
Het |
| Calhm5 |
T |
G |
10: 33,972,013 (GRCm39) |
I141L |
probably benign |
Het |
| Cdan1 |
G |
A |
2: 120,551,083 (GRCm39) |
A1103V |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,074,895 (GRCm39) |
Y3* |
probably null |
Het |
| Cdon |
T |
C |
9: 35,367,733 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,222,119 (GRCm39) |
N460I |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,050,639 (GRCm39) |
C985S |
possibly damaging |
Het |
| Col6a2 |
T |
C |
10: 76,443,574 (GRCm39) |
E497G |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,089 (GRCm39) |
M673T |
possibly damaging |
Het |
| Csmd1 |
A |
C |
8: 15,971,174 (GRCm39) |
I3047S |
probably benign |
Het |
| Cyp2u1 |
A |
G |
3: 131,087,258 (GRCm39) |
I441T |
possibly damaging |
Het |
| Disp2 |
T |
C |
2: 118,620,920 (GRCm39) |
S551P |
probably damaging |
Het |
| Dstyk |
A |
G |
1: 132,381,063 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,868,557 (GRCm39) |
S1457G |
probably damaging |
Het |
| Gabbr2 |
C |
T |
4: 46,718,838 (GRCm39) |
C613Y |
probably damaging |
Het |
| Gdf7 |
C |
A |
12: 8,351,555 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul2 |
A |
G |
19: 8,804,110 (GRCm39) |
R570G |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,320 (GRCm39) |
C588S |
probably damaging |
Het |
| Iqcf4 |
T |
C |
9: 106,445,860 (GRCm39) |
I96V |
probably benign |
Het |
| Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
| Itpr3 |
C |
T |
17: 27,329,529 (GRCm39) |
H1518Y |
probably benign |
Het |
| Kdm5d |
T |
A |
Y: 910,539 (GRCm39) |
L250H |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,937,965 (GRCm39) |
|
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,444,427 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,735,999 (GRCm39) |
D93G |
probably benign |
Het |
| Ncoa6 |
A |
T |
2: 155,253,440 (GRCm39) |
|
probably benign |
Het |
| Nudt7 |
G |
A |
8: 114,862,111 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,563,563 (GRCm39) |
|
probably benign |
Het |
| Oit3 |
G |
A |
10: 59,264,016 (GRCm39) |
R373C |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,849,765 (GRCm39) |
I494L |
probably damaging |
Het |
| Opa3 |
A |
G |
7: 18,962,524 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
A |
G |
7: 102,392,214 (GRCm39) |
|
probably benign |
Het |
| Or5ac15 |
A |
T |
16: 58,940,187 (GRCm39) |
V82D |
probably damaging |
Het |
| Or9r7 |
A |
G |
10: 129,962,522 (GRCm39) |
Y135H |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Parp6 |
G |
T |
9: 59,556,847 (GRCm39) |
C584F |
probably damaging |
Het |
| Pcgf2 |
A |
G |
11: 97,582,676 (GRCm39) |
|
probably benign |
Het |
| Pde3a |
T |
C |
6: 141,405,042 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,187,708 (GRCm39) |
N3533K |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,169,109 (GRCm39) |
L752P |
probably damaging |
Het |
| Plcb3 |
C |
A |
19: 6,939,281 (GRCm39) |
E566* |
probably null |
Het |
| Ppef2 |
T |
C |
5: 92,392,689 (GRCm39) |
K261R |
probably benign |
Het |
| Prdm14 |
A |
G |
1: 13,184,585 (GRCm39) |
S529P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,102,586 (GRCm39) |
S2582P |
probably benign |
Het |
| Sardh |
G |
A |
2: 27,081,931 (GRCm39) |
T865I |
possibly damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,515,812 (GRCm39) |
I571F |
possibly damaging |
Het |
| Slc5a5 |
A |
T |
8: 71,342,864 (GRCm39) |
M232K |
probably benign |
Het |
| Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
| Spata31e3 |
A |
T |
13: 50,402,296 (GRCm39) |
D83E |
possibly damaging |
Het |
| Ss18l1 |
G |
A |
2: 179,697,647 (GRCm39) |
S177N |
possibly damaging |
Het |
| Svs5 |
A |
T |
2: 164,175,507 (GRCm39) |
I120L |
probably benign |
Het |
| Tcl1b1 |
G |
T |
12: 105,126,074 (GRCm39) |
V19F |
probably damaging |
Het |
| Tmem108 |
C |
T |
9: 103,361,889 (GRCm39) |
V566M |
probably damaging |
Het |
| Trmu |
C |
A |
15: 85,763,604 (GRCm39) |
C9* |
probably null |
Het |
| Vnn1 |
A |
T |
10: 23,775,499 (GRCm39) |
I250F |
possibly damaging |
Het |
| Vps13c |
T |
A |
9: 67,879,285 (GRCm39) |
Y3409N |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,873,322 (GRCm39) |
N695K |
probably benign |
Het |
| Zfp84 |
T |
A |
7: 29,470,797 (GRCm39) |
M1K |
probably null |
Het |
| Zfyve26 |
G |
A |
12: 79,326,841 (GRCm39) |
R761C |
probably damaging |
Het |
| Zp3r |
A |
G |
1: 130,505,621 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGCACAGTAAGCTTTTCAAGAC -3'
(R):5'- TGGCTGGCAAAATTTCTTTTCCCAAC -3'
Sequencing Primer
(F):5'- GGTAAAAGCTGACTTCCTGC -3'
(R):5'- ACCCTACTTCTGATGTTATTAAAACC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation