Incidental Mutation 'R1985:Pitrm1'
| ID |
220529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
039997-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1985 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6608220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 316
(D316V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000221911]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021611
AA Change: D315V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: D315V
| 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 damaging
Transcript: ENSMUST00000222485
AA Change: D316V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
94% (76/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
C |
A |
8: 71,916,157 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,236,755 (GRCm39) |
D648E |
probably benign |
Het |
| Akr1d1 |
A |
G |
6: 37,535,336 (GRCm39) |
D240G |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,207,363 (GRCm39) |
H3R |
possibly damaging |
Het |
| Anpep |
A |
C |
7: 79,490,605 (GRCm39) |
|
probably null |
Het |
| Apobr |
A |
G |
7: 126,186,903 (GRCm39) |
T20A |
possibly damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,604,899 (GRCm39) |
Y427N |
probably benign |
Het |
| Camkk2 |
A |
C |
5: 122,902,190 (GRCm39) |
S40A |
possibly damaging |
Het |
| Camp |
T |
C |
9: 109,677,497 (GRCm39) |
N112S |
probably benign |
Het |
| Cbx7 |
A |
G |
15: 79,802,591 (GRCm39) |
S229P |
probably damaging |
Het |
| Cnot2 |
T |
C |
10: 116,363,781 (GRCm39) |
N41S |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,605 (GRCm39) |
F272L |
possibly damaging |
Het |
| Dct |
T |
C |
14: 118,273,954 (GRCm39) |
K318E |
probably benign |
Het |
| Dhrs11 |
A |
C |
11: 84,719,633 (GRCm39) |
L31V |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
| Dnajc7 |
A |
G |
11: 100,481,718 (GRCm39) |
S305P |
probably benign |
Het |
| Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
| Flnc |
A |
G |
6: 29,444,415 (GRCm39) |
|
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,298,693 (GRCm39) |
*666Q |
probably null |
Het |
| Gm7535 |
A |
G |
17: 18,131,800 (GRCm39) |
|
probably benign |
Het |
| Grtp1 |
A |
G |
8: 13,229,376 (GRCm39) |
F313L |
probably damaging |
Het |
| Haus6 |
T |
C |
4: 86,511,846 (GRCm39) |
Y425C |
possibly damaging |
Het |
| Hdac1 |
T |
A |
4: 129,422,753 (GRCm39) |
N83Y |
possibly damaging |
Het |
| Hdlbp |
A |
G |
1: 93,358,840 (GRCm39) |
I237T |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,442 (GRCm39) |
D481E |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,264,780 (GRCm39) |
I737V |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,467,652 (GRCm39) |
|
probably null |
Het |
| Il24 |
G |
A |
1: 130,810,268 (GRCm39) |
T196I |
probably benign |
Het |
| Ints3 |
C |
T |
3: 90,307,610 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
T |
C |
6: 126,715,473 (GRCm39) |
E472G |
probably benign |
Het |
| Kcnj16 |
C |
T |
11: 110,916,409 (GRCm39) |
T357M |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,708,302 (GRCm39) |
V957E |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,075,284 (GRCm39) |
D166N |
probably damaging |
Het |
| Klhl11 |
G |
T |
11: 100,354,070 (GRCm39) |
Q584K |
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,080,817 (GRCm39) |
M345K |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,331,150 (GRCm39) |
|
probably benign |
Het |
| Lilrb4b |
A |
T |
10: 51,357,831 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,708,669 (GRCm39) |
E225G |
possibly damaging |
Het |
| Ly9 |
A |
G |
1: 171,427,341 (GRCm39) |
S405P |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,071,740 (GRCm39) |
D519G |
possibly damaging |
Het |
| Nav3 |
G |
A |
10: 109,606,045 (GRCm39) |
|
probably benign |
Het |
| Nfkb1 |
G |
A |
3: 135,321,110 (GRCm39) |
T215I |
possibly damaging |
Het |
| Ninj2 |
A |
T |
6: 120,175,600 (GRCm39) |
|
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,482,244 (GRCm39) |
C209R |
probably damaging |
Het |
| Or13a25 |
G |
A |
7: 140,247,734 (GRCm39) |
C171Y |
probably damaging |
Het |
| Or2d4 |
A |
G |
7: 106,544,133 (GRCm39) |
I25T |
probably benign |
Het |
| Or2j6 |
A |
T |
7: 139,980,713 (GRCm39) |
M82K |
possibly damaging |
Het |
| Or2t44 |
A |
C |
11: 58,677,210 (GRCm39) |
D50A |
probably damaging |
Het |
| Or2y1g |
T |
C |
11: 49,171,110 (GRCm39) |
I45T |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,252,879 (GRCm39) |
Y6F |
probably benign |
Het |
| Otud4 |
G |
C |
8: 80,366,641 (GRCm39) |
R36P |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,216,171 (GRCm39) |
R2239H |
possibly damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,097,331 (GRCm39) |
M491L |
probably benign |
Het |
| Plod3 |
A |
G |
5: 137,019,707 (GRCm39) |
|
probably null |
Het |
| Plppr3 |
A |
T |
10: 79,703,294 (GRCm39) |
Y63* |
probably null |
Het |
| Pramel52-ps |
A |
T |
5: 94,531,931 (GRCm39) |
I272L |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,388,433 (GRCm39) |
D323G |
probably damaging |
Het |
| Psmd11 |
A |
T |
11: 80,336,089 (GRCm39) |
I114F |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rbp3 |
T |
G |
14: 33,678,418 (GRCm39) |
S789A |
probably benign |
Het |
| Rfxap |
C |
A |
3: 54,714,747 (GRCm39) |
R117L |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,208,710 (GRCm39) |
M171K |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,183,907 (GRCm39) |
|
probably null |
Het |
| Scn11a |
A |
G |
9: 119,583,744 (GRCm39) |
S1624P |
probably benign |
Het |
| Slc41a3 |
G |
A |
6: 90,619,210 (GRCm39) |
V330M |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,370,469 (GRCm39) |
I237V |
probably benign |
Het |
| Spag6 |
A |
G |
2: 18,736,930 (GRCm39) |
I218V |
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,599,638 (GRCm39) |
T257A |
possibly damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,426,938 (GRCm39) |
R318* |
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Trpm3 |
T |
A |
19: 22,903,446 (GRCm39) |
Y1069N |
possibly damaging |
Het |
| Tuba8 |
A |
G |
6: 121,197,479 (GRCm39) |
D47G |
probably benign |
Het |
| Tulp3 |
A |
T |
6: 128,303,769 (GRCm39) |
S277T |
probably benign |
Het |
| Uqcc6 |
T |
A |
10: 82,456,051 (GRCm39) |
T37S |
possibly damaging |
Het |
| Wdr7 |
GTT |
GT |
18: 63,893,654 (GRCm39) |
|
probably null |
Het |
| Ybx2 |
A |
G |
11: 69,827,294 (GRCm39) |
|
probably null |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,299,905 (GRCm39) |
I795N |
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 |
|
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'- GGCTGCACAGTAAGCTTTTC -3'
(R):5'- GGCAAAATTTCTTTTCCCAACC -3'
Sequencing Primer
(F):5'- GGCTGCACAGTAAGCTTTTCAAGAC -3'
(R):5'- ACCCTACTTCTGATGTTATTAAAACC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation