Incidental Mutation 'R9086:Pitrm1'
| ID |
690623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
068905-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6627517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 912
(T912A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000021614]
[ENSMUST00000138703]
[ENSMUST00000142972]
[ENSMUST00000154100]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021611
AA Change: T873A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: T873A
| 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: ENSMUST00000021614
|
| SMART Domains |
Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:PFK
|
25 |
332 |
4.7e-114 |
PFAM |
|
Pfam:PFK
|
411 |
696 |
1.2e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133041
|
| SMART Domains |
Protein: ENSMUSP00000123662
Gene: ENSMUSG00000021196
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
1 |
66 |
4.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138703
|
| SMART Domains |
Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:PFK
|
24 |
334 |
6.7e-136 |
PFAM |
|
Pfam:PFK
|
410 |
698 |
1.1e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142972
|
| SMART Domains |
Protein: ENSMUSP00000114439
Gene: ENSMUSG00000021196
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4OMT|A
|
1 |
179 |
2e-68 |
PDB |
|
SCOP:d1pfka_
|
2 |
158 |
7e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154100
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222485
AA Change: T912A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,589,636 (GRCm39) |
V608A |
probably damaging |
Het |
| Arl14epl |
T |
C |
18: 47,065,661 (GRCm39) |
V142A |
possibly damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,932,159 (GRCm39) |
D210G |
|
Het |
| Baz1b |
T |
C |
5: 135,260,538 (GRCm39) |
F1112L |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,206,898 (GRCm39) |
I316F |
probably damaging |
Het |
| Car2 |
A |
C |
3: 14,952,968 (GRCm39) |
T37P |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,929,573 (GRCm39) |
D542V |
probably damaging |
Het |
| Coro1b |
T |
C |
19: 4,202,525 (GRCm39) |
Y338H |
probably damaging |
Het |
| Ctdspl2 |
G |
A |
2: 121,838,298 (GRCm39) |
|
probably null |
Het |
| Cyp2a12 |
T |
C |
7: 26,735,944 (GRCm39) |
F451S |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,391 (GRCm39) |
L59P |
probably damaging |
Het |
| Duoxa2 |
A |
G |
2: 122,131,821 (GRCm39) |
Y170C |
probably damaging |
Het |
| Dus2 |
T |
A |
8: 106,742,573 (GRCm39) |
Y34* |
probably null |
Het |
| Dzip3 |
A |
G |
16: 48,781,493 (GRCm39) |
I266T |
possibly damaging |
Het |
| Ebf3 |
T |
C |
7: 136,800,994 (GRCm39) |
T455A |
possibly damaging |
Het |
| Echdc2 |
C |
T |
4: 108,027,076 (GRCm39) |
Q74* |
probably null |
Het |
| Efhc1 |
T |
C |
1: 21,025,592 (GRCm39) |
Y33H |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,566,754 (GRCm39) |
C378* |
probably null |
Het |
| Fbxo25 |
C |
A |
8: 13,989,621 (GRCm39) |
P356Q |
probably damaging |
Het |
| Fig4 |
G |
T |
10: 41,161,399 (GRCm39) |
T59K |
possibly damaging |
Het |
| Gbp10 |
T |
A |
5: 105,366,369 (GRCm39) |
M512L |
probably benign |
Het |
| Gdf10 |
T |
A |
14: 33,654,221 (GRCm39) |
Y243N |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,458,476 (GRCm39) |
S640T |
probably benign |
Het |
| H1f9 |
A |
T |
11: 94,859,083 (GRCm39) |
K126M |
possibly damaging |
Het |
| Ints1 |
A |
T |
5: 139,743,947 (GRCm39) |
H1540Q |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,534,529 (GRCm39) |
L310Q |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,640,051 (GRCm39) |
K1532R |
probably benign |
Het |
| Ltc4s |
T |
C |
11: 50,128,074 (GRCm39) |
Y59C |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,377,944 (GRCm39) |
H1427L |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,982,754 (GRCm39) |
|
probably null |
Het |
| Mthfd1l |
A |
T |
10: 3,923,412 (GRCm39) |
D53V |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,577,842 (GRCm39) |
P303Q |
|
Het |
| Nrxn1 |
A |
G |
17: 90,469,792 (GRCm39) |
F1293S |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,540,108 (GRCm39) |
E803K |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,177,830 (GRCm39) |
D1071G |
possibly damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,426 (GRCm39) |
D67E |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,126 (GRCm39) |
I181N |
probably benign |
Het |
| Or2ak6 |
T |
A |
11: 58,592,955 (GRCm39) |
S143T |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,821,633 (GRCm39) |
E287G |
probably damaging |
Het |
| Pex13 |
C |
A |
11: 23,615,760 (GRCm39) |
G29C |
probably damaging |
Het |
| Phrf1 |
C |
A |
7: 140,839,412 (GRCm39) |
T869K |
unknown |
Het |
| Pla2g4c |
A |
G |
7: 13,071,692 (GRCm39) |
K171E |
probably benign |
Het |
| Pnpla7 |
A |
T |
2: 24,929,709 (GRCm39) |
T833S |
probably damaging |
Het |
| Por |
G |
T |
5: 135,744,918 (GRCm39) |
|
probably null |
Het |
| Rab3ip |
G |
A |
10: 116,775,310 (GRCm39) |
S16L |
probably damaging |
Het |
| Rabgef1 |
A |
T |
5: 130,240,792 (GRCm39) |
I304F |
probably benign |
Het |
| Rbbp8 |
T |
C |
18: 11,875,736 (GRCm39) |
V883A |
possibly damaging |
Het |
| Rnase4 |
A |
G |
14: 51,342,429 (GRCm39) |
D51G |
possibly damaging |
Het |
| Rnf13 |
A |
C |
3: 57,740,997 (GRCm39) |
D291A |
probably benign |
Het |
| Rps6kb2 |
A |
T |
19: 4,209,270 (GRCm39) |
I191N |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,181,358 (GRCm39) |
L55S |
probably benign |
Het |
| Son |
T |
A |
16: 91,467,418 (GRCm39) |
F2260I |
unknown |
Het |
| Spata31h1 |
C |
T |
10: 82,124,577 (GRCm39) |
S2811N |
probably benign |
Het |
| Ssr1 |
A |
G |
13: 38,167,449 (GRCm39) |
I238T |
probably benign |
Het |
| Stk11ip |
A |
G |
1: 75,506,818 (GRCm39) |
E633G |
possibly damaging |
Het |
| Svs3a |
A |
G |
2: 164,132,062 (GRCm39) |
Y211C |
probably benign |
Het |
| Sytl1 |
T |
A |
4: 132,988,175 (GRCm39) |
E60D |
possibly damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tlr1 |
T |
C |
5: 65,083,198 (GRCm39) |
I460V |
probably damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,718 (GRCm39) |
I256T |
probably damaging |
Het |
| Ttll5 |
G |
A |
12: 85,964,516 (GRCm39) |
A553T |
possibly damaging |
Het |
| Ttll5 |
A |
T |
12: 86,071,107 (GRCm39) |
T1327S |
probably benign |
Het |
| Upp2 |
T |
A |
2: 58,680,177 (GRCm39) |
C334* |
probably null |
Het |
| Wdr74 |
C |
A |
19: 8,713,358 (GRCm39) |
N24K |
possibly damaging |
Het |
| Zbtb42 |
G |
A |
12: 112,645,848 (GRCm39) |
V8I |
probably benign |
Het |
| Zfp541 |
T |
A |
7: 15,824,329 (GRCm39) |
L1078Q |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,076,029 (GRCm39) |
V212A |
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 |
|
R8934:Pitrm1
|
UTSW |
13 |
6,606,666 (GRCm39) |
missense |
probably benign |
0.07 |
|
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'- CAACCTTACACCTTAGCTGGAC -3'
(R):5'- TGAATTGCTCCAGATGGGGAC -3'
Sequencing Primer
(F):5'- ACACCTTAGCTGGACTTTAGC -3'
(R):5'- GACCAAATAAAGAGCAGACGTAGCC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation