Incidental Mutation 'R4327:Pitrm1'
| ID |
324433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
041097-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4327 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 6629809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
| 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 |
noncoding transcript
Transcript: ENSMUST00000131648
|
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222061
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (64/65) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
C |
1: 53,221,664 (GRCm39) |
D55G |
possibly damaging |
Het |
| Alcam |
T |
C |
16: 52,073,579 (GRCm39) |
N549S |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,886,525 (GRCm39) |
E1152* |
probably null |
Het |
| Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,687,056 (GRCm39) |
|
probably benign |
Het |
| Bcl2l1 |
A |
G |
2: 152,624,099 (GRCm39) |
V223A |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
| Cela3b |
G |
T |
4: 137,151,242 (GRCm39) |
A137E |
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
| Col16a1 |
T |
C |
4: 129,988,344 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
G |
A |
2: 172,955,299 (GRCm39) |
|
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,566 (GRCm39) |
T20S |
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,791,516 (GRCm39) |
K675E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Hmgxb3 |
A |
T |
18: 61,300,611 (GRCm39) |
M155K |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kcnn1 |
A |
T |
8: 71,305,307 (GRCm39) |
V301E |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,568,561 (GRCm39) |
E385G |
probably benign |
Het |
| Klhl28 |
G |
A |
12: 64,996,952 (GRCm39) |
A463V |
probably damaging |
Het |
| Lhb |
A |
G |
7: 45,070,383 (GRCm39) |
R3G |
possibly damaging |
Het |
| Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,276,005 (GRCm39) |
A4176T |
probably damaging |
Het |
| Marchf6 |
C |
T |
15: 31,498,887 (GRCm39) |
E137K |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,172,688 (GRCm39) |
S1813P |
probably benign |
Het |
| Mpp3 |
T |
C |
11: 101,914,337 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
A |
C |
7: 141,281,577 (GRCm39) |
S479R |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,770,971 (GRCm39) |
I34N |
probably benign |
Het |
| Or12e10 |
G |
T |
2: 87,640,496 (GRCm39) |
V111L |
probably benign |
Het |
| Or2t1 |
T |
A |
14: 14,328,193 (GRCm38) |
F27L |
probably damaging |
Het |
| Or52n1 |
G |
A |
7: 104,382,833 (GRCm39) |
T246I |
probably damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
| Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,204,792 (GRCm39) |
I551F |
possibly damaging |
Het |
| Pex26 |
A |
T |
6: 121,164,373 (GRCm39) |
E172V |
probably damaging |
Het |
| Ptprs |
C |
A |
17: 56,754,468 (GRCm39) |
A191S |
possibly damaging |
Het |
| Rdm1 |
T |
A |
11: 101,521,734 (GRCm39) |
V92E |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,567,815 (GRCm39) |
F260L |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,979,500 (GRCm39) |
M1L |
probably damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,031,020 (GRCm39) |
I728T |
probably benign |
Het |
| Sin3a |
T |
C |
9: 57,002,642 (GRCm39) |
L178P |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,103,478 (GRCm39) |
V355A |
probably benign |
Het |
| St7 |
G |
A |
6: 17,819,287 (GRCm39) |
V64M |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,127,882 (GRCm39) |
L622* |
probably null |
Het |
| Tiam1 |
A |
G |
16: 89,652,779 (GRCm39) |
V781A |
possibly damaging |
Het |
| Tigd2 |
C |
A |
6: 59,187,562 (GRCm39) |
T143K |
probably benign |
Het |
| Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
| Tmem161b |
G |
A |
13: 84,399,359 (GRCm39) |
G5D |
probably damaging |
Het |
| Tonsl |
G |
A |
15: 76,523,916 (GRCm39) |
A28V |
probably benign |
Het |
| Treml4 |
T |
C |
17: 48,581,417 (GRCm39) |
Y222H |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,087,131 (GRCm39) |
V175D |
probably damaging |
Het |
| Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
| Zfp286 |
A |
G |
11: 62,670,844 (GRCm39) |
C410R |
probably damaging |
Het |
| Zfp934 |
T |
G |
13: 62,665,373 (GRCm39) |
N312H |
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 |
|
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'- GAAGGGTTCCTGTTGACCAC -3'
(R):5'- AGGCTTAATTTGCTCACTGCTG -3'
Sequencing Primer
(F):5'- GGGTTCCTGTTGACCACTAAAAATGC -3'
(R):5'- GCTCACTGCTGTCATTTAATGCATG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation