Incidental Mutation 'R2075:Pitrm1'
ID |
227557 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitrm1
|
Ensembl Gene |
ENSMUSG00000021193 |
Gene Name |
pitrilysin metallepetidase 1 |
Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
MMRRC Submission |
040080-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2075 (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 G
at 6605419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 149
(T149A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000221911]
[ENSMUST00000222485]
|
AlphaFold |
Q8K411 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021611
AA Change: T149A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021611 Gene: ENSMUSG00000021193 AA Change: T149A
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: T150A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,472,382 (GRCm39) |
F4263L |
probably damaging |
Het |
Aebp2 |
G |
A |
6: 140,579,420 (GRCm39) |
S219N |
probably benign |
Het |
Anln |
C |
A |
9: 22,244,464 (GRCm39) |
W1083L |
probably benign |
Het |
Atic |
T |
A |
1: 71,615,286 (GRCm39) |
D438E |
probably benign |
Het |
Bahcc1 |
G |
A |
11: 120,162,515 (GRCm39) |
C271Y |
probably damaging |
Het |
Btbd17 |
A |
T |
11: 114,682,778 (GRCm39) |
|
probably null |
Het |
Ccdc122 |
T |
C |
14: 77,306,391 (GRCm39) |
|
probably null |
Het |
Ccdc149 |
A |
G |
5: 52,596,510 (GRCm39) |
L34P |
probably damaging |
Het |
Cd22 |
C |
G |
7: 30,569,123 (GRCm39) |
C637S |
probably damaging |
Het |
Ces1a |
T |
A |
8: 93,774,703 (GRCm39) |
N12Y |
probably benign |
Het |
Chmp1a |
A |
T |
8: 123,934,761 (GRCm39) |
M65K |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,559,480 (GRCm39) |
A918T |
probably benign |
Het |
Clec2m |
C |
T |
6: 129,303,666 (GRCm39) |
E100K |
probably benign |
Het |
Cnot1 |
G |
T |
8: 96,466,461 (GRCm39) |
T1592K |
possibly damaging |
Het |
Ddx10 |
A |
T |
9: 53,151,805 (GRCm39) |
D73E |
probably benign |
Het |
Dhx32 |
T |
C |
7: 133,323,021 (GRCm39) |
N731S |
probably benign |
Het |
Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,805,601 (GRCm39) |
Q946R |
probably benign |
Het |
Dnai4 |
G |
A |
4: 102,907,390 (GRCm39) |
T632M |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,125,639 (GRCm39) |
S323C |
probably damaging |
Het |
Esr2 |
A |
G |
12: 76,212,221 (GRCm39) |
|
probably null |
Het |
Fbxo9 |
G |
T |
9: 77,991,798 (GRCm39) |
H397N |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,818,923 (GRCm39) |
N4885K |
possibly damaging |
Het |
Gm12695 |
T |
C |
4: 96,612,182 (GRCm39) |
Y527C |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,309,794 (GRCm39) |
D678G |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,453,074 (GRCm39) |
I5414F |
possibly damaging |
Het |
Hspb2 |
T |
C |
9: 50,662,646 (GRCm39) |
Y67C |
probably benign |
Het |
Kbtbd8 |
T |
A |
6: 95,103,664 (GRCm39) |
C438S |
possibly damaging |
Het |
Kif5a |
T |
C |
10: 127,081,238 (GRCm39) |
D232G |
probably damaging |
Het |
Ky |
A |
G |
9: 102,419,945 (GRCm39) |
S651G |
probably damaging |
Het |
Lgals12 |
T |
C |
19: 7,576,210 (GRCm39) |
D238G |
possibly damaging |
Het |
Lpcat3 |
T |
A |
6: 124,680,066 (GRCm39) |
Y380N |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,716,058 (GRCm39) |
H2080R |
probably benign |
Het |
Mex3c |
C |
T |
18: 73,722,840 (GRCm39) |
S311L |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,315,915 (GRCm39) |
Y90* |
probably null |
Het |
Mpped2 |
T |
A |
2: 106,575,147 (GRCm39) |
Y77* |
probably null |
Het |
Myo5a |
A |
T |
9: 75,097,200 (GRCm39) |
T49S |
probably benign |
Het |
Nsd1 |
T |
C |
13: 55,458,313 (GRCm39) |
V2142A |
possibly damaging |
Het |
Or4a74 |
A |
G |
2: 89,439,822 (GRCm39) |
V208A |
probably benign |
Het |
Or51b17 |
T |
A |
7: 103,542,127 (GRCm39) |
I272F |
probably damaging |
Het |
Or51i2 |
T |
A |
7: 103,689,180 (GRCm39) |
M59K |
probably damaging |
Het |
Or5ac19 |
T |
C |
16: 59,089,274 (GRCm39) |
Y252C |
possibly damaging |
Het |
Pdgfra |
T |
C |
5: 75,348,609 (GRCm39) |
I883T |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,385,905 (GRCm39) |
L955P |
probably damaging |
Het |
Phf24 |
A |
G |
4: 42,939,507 (GRCm39) |
Y333C |
possibly damaging |
Het |
Phlpp2 |
T |
C |
8: 110,655,124 (GRCm39) |
S605P |
possibly damaging |
Het |
Piezo2 |
C |
T |
18: 63,214,805 (GRCm39) |
E1263K |
probably damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,422,035 (GRCm39) |
A3102S |
probably damaging |
Het |
Plch2 |
A |
T |
4: 155,074,366 (GRCm39) |
L754Q |
probably damaging |
Het |
Polr2c |
A |
G |
8: 95,590,195 (GRCm39) |
I267V |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,030,763 (GRCm39) |
E382G |
probably damaging |
Het |
Prss8 |
C |
A |
7: 127,526,266 (GRCm39) |
R148L |
possibly damaging |
Het |
Ptpn2 |
T |
A |
18: 67,814,545 (GRCm39) |
T155S |
probably damaging |
Het |
Ptprn2 |
G |
A |
12: 117,211,337 (GRCm39) |
V839I |
probably benign |
Het |
Sbp |
A |
G |
17: 24,164,132 (GRCm39) |
|
probably null |
Het |
Sec16a |
A |
G |
2: 26,330,251 (GRCm39) |
I588T |
probably damaging |
Het |
Six2 |
A |
G |
17: 85,994,933 (GRCm39) |
S150P |
probably damaging |
Het |
Slc5a5 |
C |
T |
8: 71,345,083 (GRCm39) |
G75R |
possibly damaging |
Het |
Slc6a20b |
T |
A |
9: 123,424,099 (GRCm39) |
T623S |
probably benign |
Het |
Sqle |
T |
A |
15: 59,195,750 (GRCm39) |
V342E |
probably damaging |
Het |
Stk3 |
T |
C |
15: 34,959,195 (GRCm39) |
M256V |
possibly damaging |
Het |
Tek |
A |
G |
4: 94,715,966 (GRCm39) |
I463V |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tnc |
G |
A |
4: 63,913,903 (GRCm39) |
T1303M |
possibly damaging |
Het |
Traf6 |
A |
C |
2: 101,527,398 (GRCm39) |
I383L |
probably benign |
Het |
Tubb3 |
C |
T |
8: 124,148,009 (GRCm39) |
A314V |
probably damaging |
Het |
Vmn1r199 |
A |
T |
13: 22,567,435 (GRCm39) |
Y243F |
probably damaging |
Het |
Vmn2r111 |
A |
C |
17: 22,778,043 (GRCm39) |
N545K |
probably damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,177,510 (GRCm39) |
Q498L |
possibly damaging |
Het |
Vstm4 |
A |
T |
14: 32,639,811 (GRCm39) |
S229C |
probably damaging |
Het |
Wdr12 |
C |
T |
1: 60,130,222 (GRCm39) |
R63Q |
possibly damaging |
Het |
Wrn |
T |
A |
8: 33,812,357 (GRCm39) |
I187L |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,340,545 (GRCm39) |
I929L |
probably benign |
Het |
Ywhae |
T |
A |
11: 75,655,486 (GRCm39) |
D252E |
probably benign |
Het |
Zfp944 |
A |
T |
17: 22,558,178 (GRCm39) |
C356* |
probably null |
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 |
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'- ATTTGGGAAAGGCTGAGGCT -3'
(R):5'- GGATTCTCATGCTCCAGACG -3'
Sequencing Primer
(F):5'- CTGAGGCTTGGAGTGATGAGC -3'
(R):5'- TCATGCTCCAGACGCCATC -3'
|
Posted On |
2014-09-17 |