Incidental Mutation 'R0234:Pitrm1'
| ID |
59059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
038475-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0234 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 6625115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 864
(Y864*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000138703]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021611
AA Change: Y825*
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: Y825*
| 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 null
Transcript: ENSMUST00000222485
AA Change: Y864*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223492
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.1%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
A |
G |
4: 128,660,941 (GRCm39) |
R197G |
possibly damaging |
Het |
| Acacb |
A |
T |
5: 114,347,878 (GRCm39) |
H983L |
probably damaging |
Het |
| Adal |
T |
A |
2: 120,978,798 (GRCm39) |
D139E |
probably benign |
Het |
| Adam6b |
G |
A |
12: 113,454,230 (GRCm39) |
R349H |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,598,934 (GRCm39) |
K331E |
probably damaging |
Het |
| Alyref |
T |
C |
11: 120,489,133 (GRCm39) |
D11G |
probably damaging |
Het |
| B3gat1 |
A |
G |
9: 26,667,377 (GRCm39) |
E203G |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,993,595 (GRCm39) |
E719G |
possibly damaging |
Het |
| Cap2 |
G |
C |
13: 46,791,498 (GRCm39) |
|
probably null |
Het |
| Ccni |
A |
G |
5: 93,350,186 (GRCm39) |
V31A |
probably benign |
Het |
| Cdcp3 |
T |
A |
7: 130,796,032 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
T |
10: 92,735,022 (GRCm39) |
L2343* |
probably null |
Het |
| Clns1a |
T |
A |
7: 97,363,239 (GRCm39) |
Y204N |
possibly damaging |
Het |
| Cox11 |
C |
T |
11: 90,535,326 (GRCm39) |
T259I |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,371,869 (GRCm39) |
N940S |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,327,265 (GRCm39) |
V1181A |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,839,022 (GRCm39) |
V686A |
possibly damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,384 (GRCm39) |
V330A |
possibly damaging |
Het |
| Fbf1 |
A |
C |
11: 116,045,860 (GRCm39) |
F245V |
probably damaging |
Het |
| Fut10 |
T |
A |
8: 31,726,225 (GRCm39) |
F327I |
probably damaging |
Het |
| Galnt1 |
C |
T |
18: 24,387,690 (GRCm39) |
P144S |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,105 (GRCm39) |
S513G |
probably benign |
Het |
| Ghrhr |
A |
T |
6: 55,356,171 (GRCm39) |
D88V |
possibly damaging |
Het |
| Greb1l |
T |
A |
18: 10,560,331 (GRCm39) |
C1864S |
probably damaging |
Het |
| H1f2 |
T |
C |
13: 23,923,106 (GRCm39) |
I92T |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,750,992 (GRCm39) |
E336G |
probably damaging |
Het |
| Ibsp |
GGAAGAAGAAGAAGAAGA |
GGAAGAAGAAGAAGA |
5: 104,457,935 (GRCm39) |
|
probably benign |
Het |
| Irgc |
C |
A |
7: 24,132,753 (GRCm39) |
E21D |
possibly damaging |
Het |
| Itsn1 |
A |
T |
16: 91,625,168 (GRCm39) |
R590* |
probably null |
Het |
| Katnip |
T |
C |
7: 125,394,557 (GRCm39) |
V211A |
probably benign |
Het |
| Lmln |
T |
C |
16: 32,886,694 (GRCm39) |
V67A |
probably damaging |
Het |
| Lsm14a |
T |
C |
7: 34,065,042 (GRCm39) |
Q179R |
probably damaging |
Het |
| Ltbr |
A |
C |
6: 125,289,836 (GRCm39) |
D119E |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,284,705 (GRCm39) |
T565A |
possibly damaging |
Het |
| Muc6 |
A |
C |
7: 141,235,939 (GRCm39) |
N473K |
possibly damaging |
Het |
| Myocd |
A |
T |
11: 65,078,066 (GRCm39) |
D448E |
probably benign |
Het |
| Neil2 |
T |
A |
14: 63,420,975 (GRCm39) |
I239F |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,620,175 (GRCm39) |
F123S |
possibly damaging |
Het |
| Or2g25 |
T |
A |
17: 37,970,997 (GRCm39) |
I76F |
probably damaging |
Het |
| Or4f15 |
T |
C |
2: 111,813,645 (GRCm39) |
Y258C |
probably damaging |
Het |
| Or52x1 |
C |
A |
7: 104,852,821 (GRCm39) |
C243F |
probably damaging |
Het |
| Or56a5 |
T |
C |
7: 104,793,281 (GRCm39) |
D73G |
probably damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,366 (GRCm39) |
R305* |
probably null |
Het |
| Or8d1b |
A |
C |
9: 38,887,547 (GRCm39) |
|
probably null |
Het |
| Or9i2 |
C |
T |
19: 13,815,902 (GRCm39) |
V212M |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,722,646 (GRCm39) |
T941A |
probably benign |
Het |
| Phldb3 |
G |
A |
7: 24,312,004 (GRCm39) |
R106Q |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,823,995 (GRCm39) |
I844T |
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,196,676 (GRCm39) |
C695R |
probably damaging |
Het |
| Ppp1r3b |
T |
A |
8: 35,851,655 (GRCm39) |
F165I |
probably damaging |
Het |
| Prr5 |
T |
A |
15: 84,587,322 (GRCm39) |
F357L |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,891,419 (GRCm39) |
I1046F |
probably damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,563 (GRCm39) |
Y535C |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,677,858 (GRCm39) |
E602V |
probably damaging |
Het |
| Rimklb |
T |
C |
6: 122,433,292 (GRCm39) |
N343S |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,860,199 (GRCm39) |
L1008P |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,674,794 (GRCm39) |
R226C |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,457,388 (GRCm39) |
V154A |
probably damaging |
Het |
| Slc13a5 |
C |
G |
11: 72,141,626 (GRCm39) |
V405L |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc22a23 |
G |
A |
13: 34,367,244 (GRCm39) |
T588I |
probably damaging |
Het |
| Slc22a27 |
C |
A |
19: 7,904,156 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
| Slc5a5 |
A |
T |
8: 71,342,277 (GRCm39) |
M258K |
probably damaging |
Het |
| Spry4 |
A |
G |
18: 38,723,142 (GRCm39) |
I207T |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,711 (GRCm39) |
D460G |
possibly damaging |
Het |
| Syn3 |
T |
A |
10: 86,284,750 (GRCm39) |
I117F |
possibly damaging |
Het |
| Tead4 |
C |
T |
6: 128,220,365 (GRCm39) |
A224T |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,286,184 (GRCm39) |
N546K |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,916,036 (GRCm39) |
H1227L |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,648,716 (GRCm39) |
G62D |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,104,078 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 37,968,737 (GRCm39) |
T2727A |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,208,578 (GRCm39) |
T56S |
probably benign |
Het |
| Wipf3 |
T |
G |
6: 54,473,486 (GRCm39) |
L458R |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,119 (GRCm39) |
K966R |
probably damaging |
Het |
| Zfp27 |
T |
A |
7: 29,593,532 (GRCm39) |
H811L |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,370,768 (GRCm39) |
H496R |
probably damaging |
Het |
| Zfp467 |
A |
T |
6: 48,415,689 (GRCm39) |
V321E |
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 |
|
|
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 |
|
|
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'- GCTCATGGAACATGGTCCACACTC -3'
(R):5'- CTACCACGGCCATTCTTCAGACAG -3'
Sequencing Primer
(F):5'- CATCTTGCCAAATGGTGGAATG -3'
(R):5'- tgtctgcctatcttttcctctg -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation