Incidental Mutation 'R4579:Pitrm1'
| ID |
343528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
041801-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4579 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6608261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 329
(V329I)
|
| 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: V329I
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: V329I
| 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: V330I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| Meta Mutation Damage Score |
0.1281 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (88/91) |
| 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 |
|---|
| A930004D18Rik |
A |
G |
2: 18,031,848 (GRCm39) |
I90T |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,761,987 (GRCm39) |
N444D |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,927,743 (GRCm39) |
Y499H |
probably damaging |
Het |
| Ajm1 |
T |
A |
2: 25,469,661 (GRCm39) |
R83S |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,752,612 (GRCm39) |
V368D |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,986,017 (GRCm39) |
V368A |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,067,090 (GRCm39) |
|
probably null |
Het |
| Bdh1 |
A |
T |
16: 31,254,954 (GRCm39) |
|
probably benign |
Het |
| Bmp6 |
A |
T |
13: 38,653,701 (GRCm39) |
Y256F |
probably damaging |
Het |
| Bub1b |
C |
A |
2: 118,453,657 (GRCm39) |
S496* |
probably null |
Het |
| Capn15 |
C |
T |
17: 26,178,811 (GRCm39) |
R1128H |
probably damaging |
Het |
| Ccnf |
T |
A |
17: 24,450,303 (GRCm39) |
R461* |
probably null |
Het |
| Col6a1 |
C |
T |
10: 76,547,191 (GRCm39) |
V725I |
unknown |
Het |
| Cp |
T |
C |
3: 20,011,599 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,430,957 (GRCm39) |
V577A |
probably benign |
Het |
| Cux2 |
A |
T |
5: 121,998,716 (GRCm39) |
I1408K |
probably benign |
Het |
| Cyp2c69 |
T |
A |
19: 39,869,630 (GRCm39) |
T130S |
possibly damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,311,074 (GRCm39) |
T278A |
probably benign |
Het |
| Dchs1 |
T |
G |
7: 105,403,972 (GRCm39) |
T2857P |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,180 (GRCm39) |
M1884T |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,608,554 (GRCm39) |
S1802G |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,361,537 (GRCm39) |
S691G |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,529,267 (GRCm39) |
Q332L |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,133,804 (GRCm39) |
Y827C |
probably damaging |
Het |
| Ermp1 |
A |
T |
19: 29,594,051 (GRCm39) |
N706K |
probably damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,423 (GRCm39) |
L317S |
probably damaging |
Het |
| Fam120c |
G |
T |
X: 150,219,179 (GRCm39) |
G696W |
probably damaging |
Het |
| Fance |
T |
A |
17: 28,536,125 (GRCm39) |
|
probably null |
Het |
| Fancl |
G |
T |
11: 26,418,423 (GRCm39) |
|
probably null |
Het |
| Fbxo30 |
T |
A |
10: 11,165,293 (GRCm39) |
V5E |
probably benign |
Het |
| Foxn4 |
A |
T |
5: 114,394,886 (GRCm39) |
I347N |
possibly damaging |
Het |
| Galr2 |
A |
T |
11: 116,172,325 (GRCm39) |
D5V |
probably benign |
Het |
| Gm4845 |
T |
G |
1: 141,184,865 (GRCm39) |
|
noncoding transcript |
Het |
| Gnao1 |
A |
T |
8: 94,693,532 (GRCm39) |
Q73L |
probably damaging |
Het |
| Gnpat |
T |
A |
8: 125,605,241 (GRCm39) |
|
probably null |
Het |
| H2-T5 |
C |
T |
17: 36,472,649 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,791,356 (GRCm39) |
M2594T |
probably damaging |
Het |
| Hint3 |
T |
C |
10: 30,486,428 (GRCm39) |
H117R |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,541 (GRCm39) |
F253L |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,904,466 (GRCm39) |
D313G |
possibly damaging |
Het |
| Kbtbd2 |
A |
T |
6: 56,755,893 (GRCm39) |
D614E |
probably damaging |
Het |
| Ksr2 |
A |
T |
5: 117,894,335 (GRCm39) |
I825F |
probably damaging |
Het |
| L3mbtl4 |
A |
T |
17: 69,071,635 (GRCm39) |
S521C |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,123,015 (GRCm39) |
N725S |
probably damaging |
Het |
| Med1 |
T |
G |
11: 98,049,248 (GRCm39) |
E516A |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 120,935,660 (GRCm39) |
V1622E |
probably benign |
Het |
| Miip |
G |
A |
4: 147,945,518 (GRCm39) |
P373S |
probably damaging |
Het |
| Myo7a |
C |
A |
7: 97,722,400 (GRCm39) |
S1175I |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,340,474 (GRCm39) |
D781E |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,359,583 (GRCm39) |
V1407E |
probably damaging |
Het |
| Opalin |
A |
G |
19: 41,056,196 (GRCm39) |
L33P |
probably damaging |
Het |
| Or2f2 |
A |
T |
6: 42,767,458 (GRCm39) |
I162F |
probably benign |
Het |
| Or2n1b |
G |
C |
17: 38,460,296 (GRCm39) |
K272N |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,843,488 (GRCm39) |
I307V |
probably benign |
Het |
| Or8b12i |
G |
T |
9: 20,082,410 (GRCm39) |
S152R |
probably damaging |
Het |
| Or8k28 |
T |
C |
2: 86,285,859 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or8s10 |
A |
T |
15: 98,335,560 (GRCm39) |
D70V |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,168 (GRCm39) |
N23K |
probably damaging |
Het |
| Pdap1 |
A |
G |
5: 145,073,691 (GRCm39) |
|
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,670,197 (GRCm39) |
E395G |
probably damaging |
Het |
| Pex1 |
C |
A |
5: 3,668,880 (GRCm39) |
R624S |
probably benign |
Het |
| Pop1 |
G |
A |
15: 34,515,970 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,190,082 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
G |
T |
12: 73,335,298 (GRCm39) |
|
probably null |
Het |
| Slc5a9 |
T |
A |
4: 111,750,384 (GRCm39) |
Y158F |
probably damaging |
Het |
| Spata3 |
T |
A |
1: 85,954,175 (GRCm39) |
V114E |
probably damaging |
Het |
| Tbcb |
T |
A |
7: 29,931,019 (GRCm39) |
I34F |
possibly damaging |
Het |
| Tek |
T |
A |
4: 94,751,903 (GRCm39) |
Y1014* |
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,014,681 (GRCm39) |
C644F |
probably damaging |
Het |
| Trim56 |
A |
C |
5: 137,142,918 (GRCm39) |
D199E |
possibly damaging |
Het |
| Tssk3 |
A |
T |
4: 129,383,110 (GRCm39) |
D187E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,727,147 (GRCm39) |
|
probably benign |
Het |
| Twf2 |
G |
A |
9: 106,090,025 (GRCm39) |
R126Q |
probably benign |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,838 (GRCm39) |
M212T |
probably benign |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,772 (GRCm39) |
F35I |
possibly damaging |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,915 (GRCm39) |
H77Q |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,034,143 (GRCm39) |
Y186N |
probably damaging |
Het |
| Zfp524 |
G |
A |
7: 5,021,347 (GRCm39) |
V292I |
probably benign |
Het |
| Zfp788 |
T |
G |
7: 41,297,018 (GRCm39) |
I56S |
probably benign |
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 |
|
|
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'- AAAAGCTGACTTCCTGCCAAG -3'
(R):5'- GTCTCTAATTGGCTGGCAAAATTTC -3'
Sequencing Primer
(F):5'- GTGTGTGCCACTTCCAGATAATCTG -3'
(R):5'- AATTGGCTGGCAAAATTTCTTTTCCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation