Incidental Mutation 'R1563:Pitrm1'
| ID |
170781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
039602-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6613506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 526
(V526A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021611
AA Change: V487A
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: V487A
| 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 |
possibly damaging
Transcript: ENSMUST00000222485
AA Change: V526A
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223492
|
| Meta Mutation Damage Score |
0.1098 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
98% (82/84) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,001,569 (GRCm39) |
M22T |
probably benign |
Het |
| A930018M24Rik |
A |
G |
14: 51,134,576 (GRCm39) |
L22P |
probably damaging |
Het |
| Aipl1 |
A |
T |
11: 71,927,538 (GRCm39) |
M59K |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,589,747 (GRCm39) |
I1835V |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,274,056 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,205,389 (GRCm39) |
V115A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,554,361 (GRCm39) |
M685K |
probably damaging |
Het |
| Cdh10 |
T |
A |
15: 18,986,853 (GRCm39) |
Y361* |
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,296,981 (GRCm39) |
C219Y |
probably damaging |
Het |
| Cpeb2 |
G |
A |
5: 43,443,080 (GRCm39) |
V924M |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,745,411 (GRCm39) |
E138G |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,748,441 (GRCm39) |
Y346C |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,854,638 (GRCm39) |
L100Q |
probably benign |
Het |
| Dnajc6 |
A |
C |
4: 101,456,334 (GRCm39) |
N76T |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,009,231 (GRCm39) |
L954P |
probably damaging |
Het |
| Eral1 |
A |
T |
11: 77,966,232 (GRCm39) |
D315E |
probably benign |
Het |
| Fbln2 |
G |
T |
6: 91,240,365 (GRCm39) |
E724* |
probably null |
Het |
| Fyco1 |
A |
G |
9: 123,656,247 (GRCm39) |
|
probably benign |
Het |
| Fzd3 |
T |
A |
14: 65,473,173 (GRCm39) |
E198D |
probably damaging |
Het |
| Fzd9 |
T |
C |
5: 135,279,408 (GRCm39) |
N159S |
probably damaging |
Het |
| Galnt6 |
T |
A |
15: 100,601,259 (GRCm39) |
Q340L |
probably benign |
Het |
| Gm20939 |
C |
T |
17: 95,184,522 (GRCm39) |
A390V |
probably damaging |
Het |
| Gm5435 |
T |
G |
12: 82,542,464 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9949 |
A |
C |
18: 62,317,089 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,582,984 (GRCm39) |
T295I |
probably benign |
Het |
| Gria2 |
G |
T |
3: 80,598,704 (GRCm39) |
Q777K |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Haao |
T |
C |
17: 84,142,318 (GRCm39) |
T174A |
probably benign |
Het |
| Hes6 |
A |
T |
1: 91,340,858 (GRCm39) |
M1K |
probably null |
Het |
| Hook3 |
G |
T |
8: 26,600,780 (GRCm39) |
Q43K |
probably benign |
Het |
| Klhl35 |
T |
C |
7: 99,120,902 (GRCm39) |
V390A |
probably damaging |
Het |
| Myh9 |
G |
T |
15: 77,656,057 (GRCm39) |
T1151K |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,981,668 (GRCm39) |
I587F |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,704,408 (GRCm39) |
D696G |
probably damaging |
Het |
| Niban1 |
A |
T |
1: 151,591,424 (GRCm39) |
Y522F |
possibly damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,311,724 (GRCm39) |
D52G |
probably damaging |
Het |
| Oit3 |
G |
T |
10: 59,263,896 (GRCm39) |
R413S |
probably damaging |
Het |
| Or4k48 |
T |
A |
2: 111,476,027 (GRCm39) |
H105L |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,273,580 (GRCm39) |
M300V |
probably benign |
Het |
| Otof |
T |
C |
5: 30,528,349 (GRCm39) |
T1870A |
probably benign |
Het |
| Pdgfd |
T |
C |
9: 6,293,939 (GRCm39) |
|
probably null |
Het |
| Pknox1 |
T |
C |
17: 31,814,256 (GRCm39) |
S194P |
probably damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,181,266 (GRCm39) |
S8P |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,807,416 (GRCm39) |
E157G |
probably damaging |
Het |
| Psmd3 |
C |
T |
11: 98,585,051 (GRCm39) |
R466W |
probably damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,967,967 (GRCm39) |
F542S |
possibly damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,135,214 (GRCm39) |
M393L |
possibly damaging |
Het |
| Qpct |
T |
A |
17: 79,371,492 (GRCm39) |
S87T |
probably benign |
Het |
| Qtrt1 |
T |
A |
9: 21,330,607 (GRCm39) |
V269D |
probably benign |
Het |
| Rassf9 |
C |
G |
10: 102,380,821 (GRCm39) |
R68G |
probably damaging |
Het |
| Relch |
A |
G |
1: 105,647,259 (GRCm39) |
Y707C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,963,235 (GRCm39) |
E25G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,352 (GRCm39) |
F528L |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,823,457 (GRCm39) |
S693P |
probably benign |
Het |
| She |
A |
G |
3: 89,761,921 (GRCm39) |
D460G |
probably benign |
Het |
| Sipa1l1 |
G |
T |
12: 82,387,935 (GRCm39) |
V54L |
probably benign |
Het |
| Slc8a3 |
T |
A |
12: 81,251,781 (GRCm39) |
D640V |
possibly damaging |
Het |
| Smurf1 |
T |
A |
5: 144,819,323 (GRCm39) |
E601D |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Synpo2l |
A |
G |
14: 20,711,346 (GRCm39) |
S425P |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,421,454 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcf23 |
A |
T |
5: 31,126,175 (GRCm39) |
H18L |
probably benign |
Het |
| Tcp11l2 |
A |
G |
10: 84,420,808 (GRCm39) |
S16G |
probably damaging |
Het |
| Tekt2 |
T |
A |
4: 126,217,200 (GRCm39) |
M233L |
probably benign |
Het |
| Tex14 |
T |
C |
11: 87,427,634 (GRCm39) |
S29P |
probably damaging |
Het |
| Tjp2 |
T |
A |
19: 24,110,067 (GRCm39) |
N59I |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,802,575 (GRCm39) |
M626I |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,952,985 (GRCm39) |
V685D |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trhr |
G |
A |
15: 44,060,497 (GRCm39) |
V6I |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,032,158 (GRCm39) |
R301Q |
probably benign |
Het |
| Usp51 |
T |
C |
X: 151,790,988 (GRCm39) |
I194T |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,550 (GRCm39) |
S569P |
probably benign |
Het |
| Vps26a |
T |
G |
10: 62,300,459 (GRCm39) |
I236L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,330,718 (GRCm39) |
M882V |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,545 (GRCm39) |
V1813A |
probably benign |
Het |
| Zswim2 |
C |
T |
2: 83,745,626 (GRCm39) |
G604D |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,739,559 (GRCm39) |
Q669* |
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 |
|
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 |
|
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'- GGTGGATAAGCAGAACTGTAAGCCC -3'
(R):5'- TCAACAGTGCAAGGCTGGAGAC -3'
Sequencing Primer
(F):5'- TGTAAGCCCAAGTCACGCTG -3'
(R):5'- ggagacagagctgagtgagg -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation