Incidental Mutation 'R0078:Pitrm1'
| ID |
19569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
038365-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0078 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6625068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 849
(P849S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000138703]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021611
AA Change: P810S
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: P810S
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000221431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222061
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222485
AA Change: P849S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223492
|
| Meta Mutation Damage Score |
0.5005 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.2%
|
| Validation Efficiency |
81% (203/250) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,129 (GRCm39) |
Q456L |
probably benign |
Het |
| Abcf1 |
A |
G |
17: 36,268,954 (GRCm39) |
|
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,061,464 (GRCm39) |
S357C |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,512,030 (GRCm39) |
|
probably benign |
Het |
| Asb17 |
T |
A |
3: 153,550,301 (GRCm39) |
V111E |
probably damaging |
Het |
| C1qtnf4 |
C |
A |
2: 90,719,893 (GRCm39) |
N55K |
probably damaging |
Het |
| Cacng5 |
G |
T |
11: 107,768,259 (GRCm39) |
D249E |
probably benign |
Het |
| Camkk2 |
C |
A |
5: 122,895,622 (GRCm39) |
|
probably null |
Het |
| Ccdc27 |
T |
G |
4: 154,120,195 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
G |
A |
5: 123,436,633 (GRCm39) |
R1054H |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,991,173 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,803,981 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
A |
5: 72,611,816 (GRCm39) |
D148V |
possibly damaging |
Het |
| Cstdc1 |
T |
A |
2: 148,627,745 (GRCm39) |
*131K |
probably null |
Het |
| Defb26 |
A |
C |
2: 152,349,988 (GRCm39) |
D97E |
possibly damaging |
Het |
| Dgkb |
A |
G |
12: 38,186,540 (GRCm39) |
N237D |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,379,993 (GRCm39) |
N1647S |
probably benign |
Het |
| Dtna |
G |
A |
18: 23,754,499 (GRCm39) |
A438T |
probably damaging |
Het |
| Erbb3 |
G |
T |
10: 128,419,310 (GRCm39) |
F219L |
probably damaging |
Het |
| EU599041 |
G |
A |
7: 42,875,275 (GRCm39) |
|
noncoding transcript |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,943,080 (GRCm39) |
S658P |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,802,805 (GRCm39) |
D168N |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,566,952 (GRCm39) |
|
probably benign |
Het |
| Glmn |
C |
T |
5: 107,705,836 (GRCm39) |
V451I |
probably benign |
Het |
| Gm9938 |
T |
A |
19: 23,701,988 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,270,169 (GRCm39) |
S61P |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,761,640 (GRCm39) |
M6L |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,724,185 (GRCm39) |
L825P |
probably damaging |
Het |
| Gstz1 |
A |
T |
12: 87,206,477 (GRCm39) |
I66F |
probably benign |
Het |
| H2-T22 |
A |
G |
17: 36,351,501 (GRCm39) |
V243A |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,353 (GRCm39) |
S304T |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,309,517 (GRCm39) |
L586F |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,278,356 (GRCm39) |
L1686R |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,751,467 (GRCm39) |
R1540G |
probably damaging |
Het |
| Igha |
T |
A |
12: 113,223,547 (GRCm39) |
|
probably benign |
Het |
| Kif3a |
C |
A |
11: 53,469,812 (GRCm39) |
T141K |
probably benign |
Het |
| Knl1 |
G |
A |
2: 118,900,373 (GRCm39) |
M691I |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,789,146 (GRCm39) |
V13A |
probably benign |
Het |
| Lamc1 |
T |
A |
1: 153,104,936 (GRCm39) |
N1282I |
probably damaging |
Het |
| Lemd2 |
G |
T |
17: 27,422,702 (GRCm39) |
L231I |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,618,212 (GRCm39) |
V904M |
probably benign |
Het |
| Lyzl6 |
C |
T |
11: 103,524,795 (GRCm39) |
S103N |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,367,661 (GRCm39) |
R2367W |
probably damaging |
Het |
| Mapk3 |
T |
C |
7: 126,358,977 (GRCm39) |
Y54H |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,315,592 (GRCm39) |
V198D |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,078,290 (GRCm39) |
S374G |
possibly damaging |
Het |
| Ngef |
T |
C |
1: 87,468,387 (GRCm39) |
E124G |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,121,516 (GRCm39) |
|
probably null |
Het |
| Nr4a2 |
T |
C |
2: 57,002,240 (GRCm39) |
Y8C |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 56,100,789 (GRCm39) |
V193D |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,424 (GRCm39) |
S148T |
probably benign |
Het |
| Or10w1 |
G |
T |
19: 13,632,179 (GRCm39) |
V129F |
probably benign |
Het |
| Or1p1 |
A |
T |
11: 74,180,092 (GRCm39) |
I207F |
probably damaging |
Het |
| Or4k36 |
A |
T |
2: 111,146,249 (GRCm39) |
I142F |
probably benign |
Het |
| Or6d15 |
A |
G |
6: 116,559,701 (GRCm39) |
S69P |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,793 (GRCm39) |
Y174C |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,318,767 (GRCm39) |
D21G |
possibly damaging |
Het |
| Pdia4 |
A |
C |
6: 47,775,344 (GRCm39) |
F489V |
possibly damaging |
Het |
| Plcz1 |
T |
C |
6: 139,935,510 (GRCm39) |
Y644C |
probably damaging |
Het |
| Ppp5c |
T |
C |
7: 16,761,650 (GRCm39) |
E28G |
probably benign |
Het |
| Prkcb |
A |
G |
7: 122,189,393 (GRCm39) |
Y507C |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,398,251 (GRCm39) |
D1072G |
probably benign |
Het |
| Scarf1 |
A |
G |
11: 75,405,988 (GRCm39) |
|
probably benign |
Het |
| Scoc |
T |
A |
8: 84,184,887 (GRCm39) |
|
probably null |
Het |
| Sh2d4a |
A |
T |
8: 68,734,973 (GRCm39) |
M31L |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,034,598 (GRCm39) |
|
probably benign |
Het |
| Stard7 |
A |
G |
2: 127,134,127 (GRCm39) |
Y270C |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,097,881 (GRCm39) |
T147A |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,284,823 (GRCm39) |
L604P |
probably damaging |
Het |
| Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
| Trpm8 |
C |
A |
1: 88,255,870 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,943,448 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
| Tyro3 |
A |
T |
2: 119,647,487 (GRCm39) |
Q872L |
probably damaging |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,379 (GRCm39) |
M3I |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,035,971 (GRCm39) |
I2149T |
possibly damaging |
Het |
| Zfp668 |
A |
T |
7: 127,467,210 (GRCm39) |
M122K |
possibly damaging |
Het |
| Zkscan1 |
A |
T |
5: 138,091,363 (GRCm39) |
D32V |
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 |
|
|
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 |
|
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'- TGCTCATGGAACATGGTCCACAC -3'
(R):5'- CTACCACGGCCATTCTTCAGACAG -3'
Sequencing Primer
(F):5'- CATCTTGCCAAATGGTGGAATG -3'
(R):5'- tgtctgcctatcttttcctctg -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation