Incidental Mutation 'R7021:Pitrm1'
| ID |
545644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
045122-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6628593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 962
(V962E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000021614]
[ENSMUST00000138703]
[ENSMUST00000142972]
[ENSMUST00000154100]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021611
AA Change: V923E
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: V923E
| 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: ENSMUST00000021614
|
| SMART Domains |
Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:PFK
|
25 |
332 |
4.7e-114 |
PFAM |
|
Pfam:PFK
|
411 |
696 |
1.2e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133041
|
| SMART Domains |
Protein: ENSMUSP00000123662
Gene: ENSMUSG00000021196
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
1 |
66 |
4.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138703
|
| SMART Domains |
Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:PFK
|
24 |
334 |
6.7e-136 |
PFAM |
|
Pfam:PFK
|
410 |
698 |
1.1e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142972
|
| SMART Domains |
Protein: ENSMUSP00000114439
Gene: ENSMUSG00000021196
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4OMT|A
|
1 |
179 |
2e-68 |
PDB |
|
SCOP:d1pfka_
|
2 |
158 |
7e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154100
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222485
AA Change: V962E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (75/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
C |
4: 144,442,062 (GRCm39) |
L63R |
probably damaging |
Het |
| Abcb5 |
C |
T |
12: 118,895,660 (GRCm39) |
V379I |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,832,776 (GRCm39) |
Y253C |
probably damaging |
Het |
| Ahsa1 |
T |
C |
12: 87,318,154 (GRCm39) |
S37P |
possibly damaging |
Het |
| Arnt2 |
A |
T |
7: 83,993,150 (GRCm39) |
L130H |
probably damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,355,618 (GRCm39) |
F533I |
probably damaging |
Het |
| Best1 |
A |
G |
19: 9,964,143 (GRCm39) |
V439A |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,796,978 (GRCm39) |
V127A |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,073,632 (GRCm39) |
T253A |
probably benign |
Het |
| Btd |
A |
G |
14: 31,389,788 (GRCm39) |
D503G |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,924,804 (GRCm39) |
E646G |
probably damaging |
Het |
| Ccl25 |
A |
G |
8: 4,399,641 (GRCm39) |
|
probably benign |
Het |
| Ccnf |
C |
A |
17: 24,461,205 (GRCm39) |
W150L |
probably damaging |
Het |
| Cdk11b |
A |
T |
4: 155,726,024 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,768,149 (GRCm39) |
E203G |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,063 (GRCm39) |
E1675G |
possibly damaging |
Het |
| Copg1 |
T |
A |
6: 87,871,087 (GRCm39) |
Y268N |
possibly damaging |
Het |
| Csnk2a1 |
T |
A |
2: 152,102,732 (GRCm39) |
H126Q |
probably damaging |
Het |
| Ctbs |
G |
A |
3: 146,160,703 (GRCm39) |
G90D |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,613,888 (GRCm39) |
Y221C |
probably damaging |
Het |
| Cypt12 |
C |
T |
3: 18,002,635 (GRCm39) |
R3C |
unknown |
Het |
| D630003M21Rik |
A |
T |
2: 158,058,670 (GRCm39) |
M410K |
possibly damaging |
Het |
| Dnah9 |
A |
T |
11: 65,872,057 (GRCm39) |
N2724K |
probably benign |
Het |
| Dok3 |
T |
C |
13: 55,672,097 (GRCm39) |
T194A |
probably benign |
Het |
| Edem3 |
T |
G |
1: 151,631,423 (GRCm39) |
S36A |
probably benign |
Het |
| Eed |
C |
T |
7: 89,629,727 (GRCm39) |
E3K |
possibly damaging |
Het |
| Efcab2 |
A |
G |
1: 178,308,925 (GRCm39) |
I143V |
probably benign |
Het |
| Ensa |
A |
T |
3: 95,534,359 (GRCm39) |
|
probably null |
Het |
| Galnt16 |
A |
T |
12: 80,626,826 (GRCm39) |
E219V |
probably damaging |
Het |
| Gfra3 |
C |
A |
18: 34,823,933 (GRCm39) |
R347L |
probably benign |
Het |
| Gm2042 |
T |
A |
12: 87,927,009 (GRCm39) |
I442K |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,168,691 (GRCm39) |
D735V |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,269,580 (GRCm39) |
S2253P |
possibly damaging |
Het |
| Kit |
T |
C |
5: 75,781,627 (GRCm39) |
I352T |
probably benign |
Het |
| Klra6 |
A |
T |
6: 129,995,821 (GRCm39) |
V179E |
possibly damaging |
Het |
| Lctl |
T |
A |
9: 64,040,075 (GRCm39) |
|
probably null |
Het |
| Lman1 |
C |
A |
18: 66,124,714 (GRCm39) |
V342L |
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,522 (GRCm39) |
L529P |
probably damaging |
Het |
| Mab21l2 |
A |
G |
3: 86,454,793 (GRCm39) |
I69T |
probably benign |
Het |
| Mapkapk5 |
G |
T |
5: 121,665,274 (GRCm39) |
A327E |
probably benign |
Het |
| Mex3b |
G |
T |
7: 82,519,080 (GRCm39) |
R465L |
possibly damaging |
Het |
| Mgat3 |
A |
G |
15: 80,096,655 (GRCm39) |
N494S |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,224,289 (GRCm39) |
R168G |
possibly damaging |
Het |
| Mkks |
A |
G |
2: 136,718,007 (GRCm39) |
|
probably null |
Het |
| Muc16 |
G |
T |
9: 18,466,215 (GRCm39) |
H7368N |
unknown |
Het |
| Muc16 |
T |
C |
9: 18,462,127 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
A |
1: 60,300,745 (GRCm39) |
|
probably null |
Het |
| Notch2 |
T |
C |
3: 98,042,762 (GRCm39) |
S1376P |
probably benign |
Het |
| Obox5 |
A |
G |
7: 15,491,681 (GRCm39) |
|
probably null |
Het |
| Or10j5 |
T |
C |
1: 172,784,494 (GRCm39) |
I44T |
probably benign |
Het |
| Or6c8b |
A |
T |
10: 128,882,899 (GRCm39) |
I11N |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,789,773 (GRCm39) |
I807V |
probably damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,647 (GRCm39) |
Q465R |
probably damaging |
Het |
| Pla1a |
A |
G |
16: 38,221,244 (GRCm39) |
I372T |
probably damaging |
Het |
| Prmt5 |
A |
C |
14: 54,752,845 (GRCm39) |
F122C |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,111,498 (GRCm39) |
S1905T |
probably damaging |
Het |
| Ptprf |
T |
G |
4: 118,081,101 (GRCm39) |
K1163N |
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,775,283 (GRCm39) |
V25A |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,597,300 (GRCm39) |
|
probably null |
Het |
| Rnf180 |
T |
C |
13: 105,407,429 (GRCm39) |
E40G |
probably benign |
Het |
| Rpl6 |
T |
A |
5: 121,346,972 (GRCm39) |
M289K |
probably benign |
Het |
| Slc25a32 |
A |
G |
15: 38,963,321 (GRCm39) |
F167L |
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,188,205 (GRCm39) |
|
probably null |
Het |
| Sppl2a |
A |
G |
2: 126,769,663 (GRCm39) |
|
probably null |
Het |
| Tbr1 |
T |
A |
2: 61,637,688 (GRCm39) |
D82E |
probably benign |
Het |
| Tbx10 |
A |
T |
19: 4,048,961 (GRCm39) |
T291S |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,083,056 (GRCm39) |
H507L |
possibly damaging |
Het |
| Trim37 |
A |
C |
11: 87,058,335 (GRCm39) |
T338P |
probably benign |
Het |
| Trpv5 |
T |
C |
6: 41,630,204 (GRCm39) |
T629A |
probably benign |
Het |
| Ttc14 |
T |
A |
3: 33,857,646 (GRCm39) |
I249N |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,627,450 (GRCm39) |
T661A |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,587 (GRCm39) |
I156T |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,905 (GRCm39) |
N861D |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,422,213 (GRCm39) |
C2802R |
unknown |
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 |
|
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'- ATGCTTCAGAGAGTGTTCTGTC -3'
(R):5'- AATGTCCGGGCCTTTAGGTG -3'
Sequencing Primer
(F):5'- ACATGATTGCCATAGGTTGTTTCC -3'
(R):5'- CCGGGCCTTTAGGTGTAGATATC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation