Incidental Mutation 'R5383:Pitrm1'
| ID |
424864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
042958-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5383 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6627468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 856
(H856Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000021614]
[ENSMUST00000138703]
[ENSMUST00000142972]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021611
AA Change: H856Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: H856Q
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000221431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222061
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222485
AA Change: H895Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.9382 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
A |
T |
17: 9,211,532 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Aadac |
T |
C |
3: 59,943,496 (GRCm39) |
|
probably benign |
Het |
| Abl2 |
G |
A |
1: 156,469,802 (GRCm39) |
G918E |
possibly damaging |
Het |
| Acvr1c |
T |
C |
2: 58,177,747 (GRCm39) |
T241A |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,422,373 (GRCm39) |
V328A |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,813,918 (GRCm39) |
I279V |
probably benign |
Het |
| AW551984 |
T |
A |
9: 39,501,994 (GRCm39) |
Y704F |
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,511,360 (GRCm39) |
D321G |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,767,236 (GRCm39) |
D1910V |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,864,479 (GRCm39) |
Q480R |
probably benign |
Het |
| Cdhr1 |
C |
T |
14: 36,810,964 (GRCm39) |
V266M |
possibly damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,192,755 (GRCm39) |
V414D |
possibly damaging |
Het |
| Ctdnep1 |
T |
A |
11: 69,875,222 (GRCm39) |
|
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,168,918 (GRCm39) |
M212V |
possibly damaging |
Het |
| D130043K22Rik |
G |
A |
13: 25,041,397 (GRCm39) |
S273N |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,163 (GRCm39) |
S250P |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,095,409 (GRCm39) |
T486A |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,862,196 (GRCm39) |
T523A |
probably damaging |
Het |
| Dmbx1 |
A |
G |
4: 115,775,342 (GRCm39) |
S313P |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,049,432 (GRCm39) |
E1664G |
probably damaging |
Het |
| Dpysl3 |
A |
T |
18: 43,571,103 (GRCm39) |
V57E |
probably damaging |
Het |
| Fam98a |
C |
T |
17: 75,845,576 (GRCm39) |
G390E |
unknown |
Het |
| Hook3 |
C |
A |
8: 26,609,017 (GRCm39) |
R9L |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,063,989 (GRCm39) |
D298G |
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,566,579 (GRCm39) |
V48D |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,955,275 (GRCm39) |
L961H |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 192,187,999 (GRCm39) |
G820D |
probably benign |
Het |
| Lsm14a |
C |
T |
7: 34,088,789 (GRCm39) |
A39T |
possibly damaging |
Het |
| Muc2 |
T |
C |
7: 141,307,456 (GRCm39) |
C804R |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 120,189,335 (GRCm39) |
V25M |
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,509 (GRCm39) |
L198* |
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,421,457 (GRCm39) |
M1V |
probably null |
Het |
| Or5b122 |
T |
A |
19: 13,563,439 (GRCm39) |
M257K |
probably damaging |
Het |
| Or6c68 |
A |
G |
10: 129,158,205 (GRCm39) |
T238A |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,231 (GRCm39) |
D857G |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,793,349 (GRCm39) |
C1679R |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,140,617 (GRCm39) |
L441* |
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,550,427 (GRCm39) |
F284L |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,539,969 (GRCm39) |
K769M |
probably damaging |
Het |
| Rbm12 |
G |
T |
2: 155,945,285 (GRCm39) |
|
probably benign |
Het |
| Rpf1 |
T |
C |
3: 146,225,146 (GRCm39) |
D94G |
possibly damaging |
Het |
| Scap |
G |
T |
9: 110,203,597 (GRCm39) |
K310N |
probably damaging |
Het |
| Smpd2 |
C |
T |
10: 41,364,698 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
TC |
TCC |
1: 85,519,290 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
A |
10: 75,082,539 (GRCm39) |
I662N |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,901,340 (GRCm39) |
V1496D |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,609,319 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
G |
15: 54,912,815 (GRCm39) |
I515T |
possibly damaging |
Het |
| Tdrd3 |
C |
T |
14: 87,718,227 (GRCm39) |
Q203* |
probably null |
Het |
| Tfap2b |
A |
T |
1: 19,296,722 (GRCm39) |
M222L |
probably benign |
Het |
| Tmem43 |
G |
A |
6: 91,450,872 (GRCm39) |
A2T |
probably benign |
Het |
| Trav9-1 |
T |
A |
14: 53,725,833 (GRCm39) |
I49N |
probably benign |
Het |
| Trim23 |
T |
G |
13: 104,335,205 (GRCm39) |
N410K |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,778,342 (GRCm39) |
T567A |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,070,886 (GRCm39) |
N1081S |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,852,887 (GRCm39) |
I9R |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,323,681 (GRCm39) |
M92K |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,013,729 (GRCm39) |
G198D |
probably benign |
Het |
| Zfp637 |
G |
T |
6: 117,820,270 (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 |
|
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 |
|
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'- AAGTCCCTGTGTGATGGAGAG -3'
(R):5'- CAGAGCACGATGACATTCTGAG -3'
Sequencing Primer
(F):5'- CTTGGAAGAGGGCCAGCTGTAC -3'
(R):5'- TGACATTCTGAGAGAACAGAGCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation