Incidental Mutation 'R4685:Pitrm1'
ID |
386368 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitrm1
|
Ensembl Gene |
ENSMUSG00000021193 |
Gene Name |
pitrilysin metallepetidase 1 |
Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
MMRRC Submission |
041936-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4685 (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 6606578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 211
(T211A)
|
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: T210A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021611 Gene: ENSMUSG00000021193 AA Change: T210A
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: T211A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0908 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
97% (71/73) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004P03Rik |
T |
C |
12: 17,057,185 (GRCm39) |
D104G |
probably damaging |
Het |
2810021J22Rik |
T |
C |
11: 58,771,750 (GRCm39) |
S411P |
probably damaging |
Het |
Adcy2 |
T |
C |
13: 68,876,024 (GRCm39) |
R493G |
probably benign |
Het |
Adcy8 |
A |
G |
15: 64,609,287 (GRCm39) |
I874T |
probably benign |
Het |
Ano2 |
G |
T |
6: 125,957,087 (GRCm39) |
E619* |
probably null |
Het |
Apob |
A |
G |
12: 8,056,456 (GRCm39) |
K1613R |
probably benign |
Het |
Arhgef10 |
T |
A |
8: 15,006,963 (GRCm39) |
F476Y |
probably damaging |
Het |
Bmf |
G |
A |
2: 118,377,283 (GRCm39) |
A74V |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,467,139 (GRCm38) |
E925G |
possibly damaging |
Het |
Ccdc162 |
T |
C |
10: 41,557,682 (GRCm39) |
D181G |
possibly damaging |
Het |
Ccdc85c |
A |
T |
12: 108,173,434 (GRCm39) |
C387S |
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,374,410 (GRCm39) |
V974A |
possibly damaging |
Het |
Cplx3 |
T |
A |
9: 57,516,483 (GRCm39) |
I407F |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,250,488 (GRCm39) |
F1703S |
probably damaging |
Het |
Dsg3 |
C |
A |
18: 20,672,793 (GRCm39) |
D821E |
probably benign |
Het |
Ecel1 |
G |
T |
1: 87,080,668 (GRCm39) |
|
probably null |
Het |
Edn1 |
A |
T |
13: 42,458,729 (GRCm39) |
|
probably null |
Het |
Egfr |
G |
A |
11: 16,808,980 (GRCm39) |
C58Y |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,574,596 (GRCm39) |
N282D |
probably benign |
Het |
Fhit |
T |
A |
14: 9,870,091 (GRCm38) |
Q63L |
probably damaging |
Het |
Gabarapl2 |
T |
C |
8: 112,669,150 (GRCm39) |
V36A |
probably benign |
Het |
Glis1 |
T |
C |
4: 107,424,842 (GRCm39) |
V151A |
probably benign |
Het |
Gm12695 |
A |
G |
4: 96,650,217 (GRCm39) |
S210P |
probably damaging |
Het |
Gpat4 |
TAGAAGA |
TAGA |
8: 23,672,865 (GRCm39) |
|
probably benign |
Het |
H2-M10.4 |
G |
A |
17: 36,772,688 (GRCm39) |
A98V |
probably benign |
Het |
Hhat |
C |
A |
1: 192,277,362 (GRCm39) |
G366C |
probably damaging |
Het |
Hydin |
C |
A |
8: 111,189,154 (GRCm39) |
A1186E |
probably damaging |
Het |
Itgb2 |
T |
A |
10: 77,385,937 (GRCm39) |
|
probably null |
Het |
Kank1 |
C |
T |
19: 25,387,398 (GRCm39) |
A329V |
possibly damaging |
Het |
Kdm4b |
T |
A |
17: 56,708,675 (GRCm39) |
S1070T |
probably benign |
Het |
Kyat1 |
A |
G |
2: 30,078,277 (GRCm39) |
Y101H |
probably damaging |
Het |
Map4k5 |
T |
C |
12: 69,858,140 (GRCm39) |
K679R |
probably benign |
Het |
Mill1 |
A |
T |
7: 17,989,853 (GRCm39) |
D45V |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,412,233 (GRCm39) |
Y743N |
probably damaging |
Het |
Nox4 |
C |
G |
7: 86,946,716 (GRCm39) |
I137M |
probably benign |
Het |
Odf4 |
A |
G |
11: 68,813,665 (GRCm39) |
|
probably null |
Het |
Ostf1 |
A |
T |
19: 18,558,652 (GRCm39) |
D210E |
probably damaging |
Het |
Paxip1 |
A |
T |
5: 27,966,675 (GRCm39) |
|
probably null |
Het |
Pla2g4f |
A |
G |
2: 120,135,496 (GRCm39) |
S393P |
probably damaging |
Het |
Plppr3 |
T |
C |
10: 79,703,359 (GRCm39) |
T42A |
probably damaging |
Het |
Plxna4 |
C |
A |
6: 32,142,779 (GRCm39) |
G1559W |
probably damaging |
Het |
Ppp1r13l |
T |
C |
7: 19,109,308 (GRCm39) |
|
probably null |
Het |
Prex1 |
C |
T |
2: 166,480,252 (GRCm39) |
V163M |
probably damaging |
Het |
Prl6a1 |
A |
G |
13: 27,500,307 (GRCm39) |
T93A |
probably benign |
Het |
Psg16 |
T |
C |
7: 16,824,459 (GRCm39) |
V81A |
probably benign |
Het |
Rbm33 |
A |
T |
5: 28,613,280 (GRCm39) |
|
probably benign |
Het |
Rest |
C |
T |
5: 77,423,090 (GRCm39) |
P298L |
possibly damaging |
Het |
Rhobtb3 |
G |
A |
13: 76,027,051 (GRCm39) |
R441* |
probably null |
Het |
Rims4 |
T |
A |
2: 163,706,914 (GRCm39) |
K155* |
probably null |
Het |
Rps6kb1 |
C |
T |
11: 86,410,713 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
C |
13: 11,707,532 (GRCm39) |
D2835G |
probably damaging |
Het |
Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
Sell |
A |
T |
1: 163,893,829 (GRCm39) |
I175F |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,855,211 (GRCm39) |
D295G |
probably damaging |
Het |
Sphk1 |
A |
G |
11: 116,426,106 (GRCm39) |
D96G |
probably damaging |
Het |
Spns3 |
A |
T |
11: 72,428,096 (GRCm39) |
V228D |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,469,828 (GRCm39) |
S4500G |
probably damaging |
Het |
Syt9 |
T |
A |
7: 107,035,678 (GRCm39) |
C232S |
possibly damaging |
Het |
Terf1 |
A |
G |
1: 15,889,185 (GRCm39) |
I176V |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,209,854 (GRCm39) |
A428T |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,499,711 (GRCm39) |
N321S |
probably benign |
Het |
Tomm40 |
A |
G |
7: 19,435,761 (GRCm39) |
I323T |
probably benign |
Het |
Try5 |
T |
A |
6: 41,288,233 (GRCm39) |
Q240L |
possibly damaging |
Het |
Vmn1r213 |
A |
T |
13: 23,195,800 (GRCm39) |
I128L |
probably benign |
Het |
Vmn2r80 |
T |
C |
10: 79,030,162 (GRCm39) |
F663L |
possibly damaging |
Het |
Znfx1 |
T |
A |
2: 166,880,950 (GRCm39) |
Y278F |
probably damaging |
Het |
Zpbp2 |
A |
G |
11: 98,442,117 (GRCm39) |
|
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 |
|
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 |
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'- TGACTGTGGACCAAGGAATTC -3'
(R):5'- ACACTACCTGGCATTGCTTGG -3'
Sequencing Primer
(F):5'- CAAGGAATTCTTGCTCATCTATCC -3'
(R):5'- CATTGCTTGGGTGATAATGAGTAGC -3'
|
Posted On |
2016-05-20 |