Incidental Mutation 'R8934:Pitrm1'
| ID |
680532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
068777-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8934 (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 C
at 6606666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 240
(L240P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000221911]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021611
AA Change: L239P
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: L239P
| 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: L240P
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.2574 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
| Abce1 |
A |
G |
8: 80,429,661 (GRCm39) |
Y87H |
probably damaging |
Het |
| Adad2 |
G |
A |
8: 120,341,535 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,300,015 (GRCm39) |
T901A |
probably damaging |
Het |
| Adamts18 |
T |
A |
8: 114,463,510 (GRCm39) |
I779F |
possibly damaging |
Het |
| Bod1l |
T |
C |
5: 41,976,944 (GRCm39) |
T1457A |
probably benign |
Het |
| Brat1 |
T |
C |
5: 140,696,004 (GRCm39) |
V125A |
probably benign |
Het |
| C4b |
G |
A |
17: 34,951,958 (GRCm39) |
R1296C |
possibly damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,402 (GRCm39) |
L206Q |
probably damaging |
Het |
| Cfap126 |
A |
G |
1: 170,953,690 (GRCm39) |
T87A |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,491,695 (GRCm39) |
N376K |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,731,786 (GRCm39) |
I120K |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,420,217 (GRCm39) |
E384G |
possibly damaging |
Het |
| Dipk1b |
G |
A |
2: 26,524,866 (GRCm39) |
V89M |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,450,288 (GRCm39) |
S634P |
possibly damaging |
Het |
| Dusp16 |
A |
T |
6: 134,718,639 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,913,738 (GRCm39) |
R185H |
probably damaging |
Het |
| Epdr1 |
T |
C |
13: 19,777,350 (GRCm39) |
E216G |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,698,101 (GRCm39) |
H86R |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,060,553 (GRCm39) |
W99R |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hjv |
T |
G |
3: 96,433,909 (GRCm39) |
C27G |
probably damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,469,469 (GRCm39) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,150,407 (GRCm39) |
*758W |
probably null |
Het |
| Il1rap |
T |
C |
16: 26,495,734 (GRCm39) |
C114R |
probably damaging |
Het |
| Irf6 |
T |
C |
1: 192,845,033 (GRCm39) |
I168T |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,759,767 (GRCm39) |
I1164V |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,021,168 (GRCm39) |
L915P |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,273,909 (GRCm39) |
|
probably benign |
Het |
| Lhx3 |
C |
A |
2: 26,092,258 (GRCm39) |
R211L |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,882,062 (GRCm39) |
|
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,334,386 (GRCm39) |
S1297P |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,306,852 (GRCm39) |
T232S |
probably benign |
Het |
| Nemp2 |
T |
A |
1: 52,688,868 (GRCm39) |
F377L |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,889,085 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
T |
A |
2: 90,112,356 (GRCm39) |
T188S |
probably benign |
Het |
| Or51ah3 |
T |
C |
7: 103,210,290 (GRCm39) |
V202A |
probably benign |
Het |
| Pgbd5 |
A |
C |
8: 125,110,998 (GRCm39) |
V231G |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,462,234 (GRCm39) |
|
probably null |
Het |
| Ppp2r5a |
T |
A |
1: 191,100,835 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,345 (GRCm39) |
L462F |
possibly damaging |
Het |
| Prss30 |
C |
T |
17: 24,192,628 (GRCm39) |
C147Y |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,546,297 (GRCm39) |
V318M |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,599,730 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,303,219 (GRCm39) |
Q184R |
probably benign |
Het |
| Rufy1 |
T |
A |
11: 50,298,705 (GRCm39) |
Q362L |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,322,327 (GRCm39) |
K274E |
probably damaging |
Het |
| Shroom3 |
T |
A |
5: 93,089,584 (GRCm39) |
I778K |
probably damaging |
Het |
| Slamf6 |
C |
T |
1: 171,745,338 (GRCm39) |
L22F |
possibly damaging |
Het |
| St7l |
A |
G |
3: 104,796,634 (GRCm39) |
E249G |
probably damaging |
Het |
| Tmem237 |
T |
C |
1: 59,153,338 (GRCm39) |
N61S |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,038,416 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
G |
T |
11: 102,204,855 (GRCm39) |
P115T |
probably damaging |
Het |
| Vmn2r70 |
T |
A |
7: 85,211,188 (GRCm39) |
I508F |
possibly damaging |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp663 |
A |
T |
2: 165,194,714 (GRCm39) |
C502S |
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 |
|
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 |
|
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'- AGCCACAGATCATGAGTAACTTG -3'
(R):5'- TCTCACCCAGAGCTATGGATC -3'
Sequencing Primer
(F):5'- ACTTGAATGTGAAGTTAGACTGC -3'
(R):5'- ATGGATCTGTTCAGCATATGCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation