Incidental Mutation 'R0089:Pitrm1'
| ID |
20090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
038376-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6605675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 207
(K207N)
|
| 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: K206N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: K206N
| 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: K207N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (82/84) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,282,303 (GRCm39) |
H163L |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,242,886 (GRCm39) |
V1583E |
possibly damaging |
Het |
| Ablim1 |
G |
T |
19: 57,031,463 (GRCm39) |
S654Y |
probably damaging |
Het |
| Acbd4 |
T |
C |
11: 102,994,819 (GRCm39) |
F59S |
probably damaging |
Het |
| Acot1 |
T |
C |
12: 84,063,708 (GRCm39) |
I272T |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,773,409 (GRCm39) |
D1402G |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,945,371 (GRCm39) |
F2800I |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,585,401 (GRCm39) |
E811G |
probably benign |
Het |
| Catspere2 |
C |
T |
1: 177,874,555 (GRCm39) |
P141S |
unknown |
Het |
| Ccdc106 |
A |
G |
7: 5,059,220 (GRCm39) |
|
probably null |
Het |
| Ccdc81 |
G |
T |
7: 89,542,324 (GRCm39) |
A184E |
possibly damaging |
Het |
| Cenpt |
T |
C |
8: 106,573,000 (GRCm39) |
T364A |
probably benign |
Het |
| Crybg2 |
T |
C |
4: 133,808,505 (GRCm39) |
S1060P |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,111 (GRCm39) |
T109A |
possibly damaging |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,089 (GRCm39) |
L124P |
probably benign |
Het |
| Eif1ad19 |
A |
T |
12: 87,740,283 (GRCm39) |
I92N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,849,501 (GRCm39) |
D3967G |
probably benign |
Het |
| Fbxo21 |
T |
A |
5: 118,146,208 (GRCm39) |
F610L |
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,494,878 (GRCm39) |
D341G |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,342,507 (GRCm39) |
H1600L |
possibly damaging |
Het |
| Fry |
A |
T |
5: 150,263,892 (GRCm39) |
K133N |
possibly damaging |
Het |
| Gm10647 |
A |
G |
9: 66,705,612 (GRCm39) |
|
probably benign |
Het |
| Gmps |
T |
C |
3: 63,906,119 (GRCm39) |
F472S |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,884,192 (GRCm39) |
|
probably benign |
Het |
| Grm6 |
G |
A |
11: 50,750,792 (GRCm39) |
G652S |
probably damaging |
Het |
| Heca |
G |
T |
10: 17,783,848 (GRCm39) |
D468E |
probably damaging |
Het |
| Heg1 |
C |
T |
16: 33,583,985 (GRCm39) |
S1033L |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,487,094 (GRCm39) |
S12P |
probably damaging |
Het |
| Impdh1 |
G |
T |
6: 29,206,325 (GRCm39) |
H195N |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,649,972 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,251,520 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
G |
A |
11: 105,899,848 (GRCm39) |
C39Y |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,143,837 (GRCm39) |
S1364P |
probably damaging |
Het |
| Lins1 |
T |
A |
7: 66,361,796 (GRCm39) |
|
probably benign |
Het |
| Lrpap1 |
C |
T |
5: 35,252,232 (GRCm39) |
V328M |
possibly damaging |
Het |
| Lyn |
T |
G |
4: 3,748,768 (GRCm39) |
L249V |
probably benign |
Het |
| Mpp7 |
A |
G |
18: 7,439,555 (GRCm39) |
|
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,765,696 (GRCm39) |
F400L |
possibly damaging |
Het |
| Mto1 |
G |
A |
9: 78,381,154 (GRCm39) |
S666N |
probably benign |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Nsg1 |
T |
C |
5: 38,312,974 (GRCm39) |
E75G |
probably benign |
Het |
| Nsun4 |
A |
G |
4: 115,892,970 (GRCm39) |
M283T |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,890,888 (GRCm39) |
S7215P |
unknown |
Het |
| Or11j4 |
T |
C |
14: 50,630,321 (GRCm39) |
I36T |
probably benign |
Het |
| Or13a20 |
T |
C |
7: 140,232,224 (GRCm39) |
S111P |
probably damaging |
Het |
| Or1j12 |
G |
A |
2: 36,343,107 (GRCm39) |
R170K |
probably benign |
Het |
| Or2y13 |
G |
A |
11: 49,415,033 (GRCm39) |
S161N |
possibly damaging |
Het |
| Or52e4 |
T |
A |
7: 104,706,297 (GRCm39) |
Y281* |
probably null |
Het |
| Or5al1 |
A |
C |
2: 85,989,918 (GRCm39) |
S265R |
possibly damaging |
Het |
| Or9m1b |
T |
C |
2: 87,836,331 (GRCm39) |
I264V |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,994,869 (GRCm39) |
F563S |
probably benign |
Het |
| Pik3c3 |
T |
A |
18: 30,436,131 (GRCm39) |
|
probably benign |
Het |
| Prdm10 |
C |
T |
9: 31,227,526 (GRCm39) |
R44C |
probably damaging |
Het |
| Rab40c |
A |
T |
17: 26,104,122 (GRCm39) |
I90N |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,041,334 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
G |
A |
14: 56,751,563 (GRCm39) |
G1467E |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,386,841 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,756,896 (GRCm39) |
N1069K |
probably benign |
Het |
| Scap |
T |
C |
9: 110,201,290 (GRCm39) |
I93T |
possibly damaging |
Het |
| Sez6 |
T |
C |
11: 77,865,170 (GRCm39) |
|
probably benign |
Het |
| Slc22a30 |
A |
T |
19: 8,347,561 (GRCm39) |
S280T |
probably benign |
Het |
| Slc26a5 |
A |
C |
5: 22,016,342 (GRCm39) |
|
probably null |
Het |
| St18 |
T |
C |
1: 6,919,172 (GRCm39) |
V901A |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,010,650 (GRCm39) |
L2519P |
probably damaging |
Het |
| Syne4 |
G |
A |
7: 30,018,344 (GRCm39) |
G362E |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 141,759,236 (GRCm39) |
T171A |
probably benign |
Het |
| Tns4 |
A |
T |
11: 98,966,024 (GRCm39) |
I453N |
probably damaging |
Het |
| Trank1 |
A |
T |
9: 111,221,978 (GRCm39) |
H2905L |
probably benign |
Het |
| Trim13 |
C |
T |
14: 61,842,166 (GRCm39) |
T61I |
possibly damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,580 (GRCm39) |
Q290R |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,559,544 (GRCm39) |
R29619L |
probably damaging |
Het |
| Ugt2b38 |
T |
A |
5: 87,568,417 (GRCm39) |
M293L |
probably benign |
Het |
| Vmn1r22 |
T |
A |
6: 57,877,513 (GRCm39) |
N155Y |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,508,269 (GRCm39) |
Y285C |
probably benign |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,588 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
C |
6: 13,220,004 (GRCm39) |
L49R |
probably damaging |
Het |
| Yipf2 |
T |
A |
9: 21,503,262 (GRCm39) |
E68D |
possibly damaging |
Het |
| Zfand5 |
C |
A |
19: 21,257,122 (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 |
|
|
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 |
|
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'- TTCTTCCCCTGCTTGAGGGAACTG -3'
(R):5'- GATGAACGACCCCATGTACTTCTGG -3'
Sequencing Primer
(F):5'- GGACTTCTGGTACGTAATGATCAC -3'
(R):5'- agagaggaggtggggaaaag -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation