Incidental Mutation 'R7363:Pitrm1'
| ID |
571493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitrm1
|
| Ensembl Gene |
ENSMUSG00000021193 |
| Gene Name |
pitrilysin metallepetidase 1 |
| Synonyms |
2310012C15Rik, Ntup1, PreP, MP-1 |
| MMRRC Submission |
045448-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7363 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
6598158-6630194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6619387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 741
(S741G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021611]
[ENSMUST00000222485]
|
| AlphaFold |
Q8K411 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021611
AA Change: S702G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: S702G
| 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: ENSMUST00000222485
AA Change: S741G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,244,782 (GRCm39) |
N190I |
probably damaging |
Het |
| Ablim1 |
G |
T |
19: 57,204,173 (GRCm39) |
L73I |
probably benign |
Het |
| Adamts4 |
A |
T |
1: 171,086,608 (GRCm39) |
Q800L |
probably benign |
Het |
| Atm |
A |
T |
9: 53,376,598 (GRCm39) |
I2014N |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,062,061 (GRCm39) |
C12R |
possibly damaging |
Het |
| B3galnt1 |
A |
T |
3: 69,483,157 (GRCm39) |
Y35N |
probably damaging |
Het |
| Bnc2 |
A |
T |
4: 84,210,308 (GRCm39) |
M687K |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,320,939 (GRCm39) |
Y917C |
probably damaging |
Het |
| Cemip2 |
T |
C |
19: 21,833,575 (GRCm39) |
F1338L |
probably benign |
Het |
| Ces2e |
A |
G |
8: 105,659,632 (GRCm39) |
|
probably null |
Het |
| Cldn23 |
A |
G |
8: 36,292,659 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
G |
T |
9: 10,172,021 (GRCm39) |
S54R |
probably benign |
Het |
| Cyria |
T |
A |
12: 12,390,665 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
T |
2: 180,304,310 (GRCm39) |
S1198* |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,445,766 (GRCm39) |
M776V |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,518,089 (GRCm39) |
|
probably null |
Het |
| Dnttip1 |
GGGCCGGC |
GGGC |
2: 164,599,605 (GRCm39) |
|
probably null |
Het |
| Dusp28 |
A |
T |
1: 92,834,861 (GRCm39) |
T29S |
probably benign |
Het |
| Erich1 |
A |
T |
8: 14,083,688 (GRCm39) |
S127R |
probably benign |
Het |
| Fam151a |
T |
A |
4: 106,602,681 (GRCm39) |
L200H |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,263,057 (GRCm39) |
H207Q |
probably damaging |
Het |
| Fgf22 |
A |
G |
10: 79,592,676 (GRCm39) |
E116G |
probably benign |
Het |
| Gapvd1 |
C |
A |
2: 34,602,207 (GRCm39) |
V647F |
probably benign |
Het |
| Garin4 |
A |
T |
1: 190,895,910 (GRCm39) |
S244R |
probably damaging |
Het |
| Gja4 |
T |
A |
4: 127,206,487 (GRCm39) |
Y92F |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,327,600 (GRCm39) |
R288W |
probably damaging |
Het |
| Hira |
G |
T |
16: 18,716,532 (GRCm39) |
R99L |
possibly damaging |
Het |
| Ighv16-1 |
C |
T |
12: 114,032,721 (GRCm39) |
G27D |
probably damaging |
Het |
| Igkv1-133 |
C |
T |
6: 67,702,395 (GRCm39) |
P38S |
probably benign |
Het |
| Igkv4-59 |
T |
C |
6: 69,415,396 (GRCm39) |
Y53C |
probably damaging |
Het |
| Il23a |
T |
C |
10: 128,133,020 (GRCm39) |
E113G |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,584,589 (GRCm39) |
V188A |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,216,850 (GRCm39) |
K155E |
unknown |
Het |
| Lancl2 |
T |
G |
6: 57,699,664 (GRCm39) |
C169G |
probably benign |
Het |
| Lrrc26 |
A |
G |
2: 25,180,581 (GRCm39) |
D194G |
probably benign |
Het |
| Lrrfip1 |
C |
T |
1: 91,050,842 (GRCm39) |
A545V |
probably benign |
Het |
| Lrtm1 |
T |
C |
14: 28,743,850 (GRCm39) |
F106S |
probably damaging |
Het |
| Lypd2 |
A |
T |
15: 74,604,848 (GRCm39) |
M49K |
probably damaging |
Het |
| Mbd1 |
A |
C |
18: 74,406,357 (GRCm39) |
D63A |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,691,729 (GRCm39) |
F990L |
probably damaging |
Het |
| Mtfr1l |
T |
C |
4: 134,256,577 (GRCm39) |
E196G |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,705,874 (GRCm39) |
T2007A |
probably benign |
Het |
| Nckap1 |
G |
A |
2: 80,370,512 (GRCm39) |
R393C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,209,508 (GRCm39) |
T1605M |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,741 (GRCm39) |
D70G |
probably damaging |
Het |
| Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
T |
A |
7: 101,875,467 (GRCm39) |
|
probably null |
Het |
| Plcd4 |
A |
T |
1: 74,590,231 (GRCm39) |
S155C |
probably null |
Het |
| Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
| Ppp2r5c |
G |
A |
12: 110,489,041 (GRCm39) |
A71T |
probably benign |
Het |
| Prdm6 |
T |
A |
18: 53,598,199 (GRCm39) |
I187N |
possibly damaging |
Het |
| Pxk |
A |
G |
14: 8,152,118 (GRCm38) |
Q478R |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,394,914 (GRCm39) |
Y718C |
probably damaging |
Het |
| Ring1 |
G |
T |
17: 34,243,336 (GRCm39) |
T2K |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,173,897 (GRCm39) |
S2022G |
probably benign |
Het |
| Sec61a1 |
C |
A |
6: 88,492,533 (GRCm39) |
V32F |
probably benign |
Het |
| Sv2b |
G |
A |
7: 74,797,402 (GRCm39) |
P331S |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,090,970 (GRCm39) |
S795G |
possibly damaging |
Het |
| Tmod2 |
T |
C |
9: 75,484,023 (GRCm39) |
E309G |
probably damaging |
Het |
| Tpp2 |
T |
G |
1: 44,024,582 (GRCm39) |
S987A |
probably benign |
Het |
| Trim75 |
G |
C |
8: 65,435,539 (GRCm39) |
H304D |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,272,231 (GRCm39) |
D447Y |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,936,751 (GRCm39) |
K697E |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,339,909 (GRCm39) |
H22L |
probably benign |
Het |
| Vmn2r4 |
G |
A |
3: 64,314,432 (GRCm39) |
S183F |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,256,147 (GRCm39) |
Y721H |
probably benign |
Het |
| Wbp1l |
C |
T |
19: 46,642,569 (GRCm39) |
P190L |
possibly damaging |
Het |
| Zcchc4 |
A |
T |
5: 52,942,510 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Zfp236 |
T |
C |
18: 82,639,456 (GRCm39) |
R1264G |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,616,413 (GRCm39) |
N54K |
probably damaging |
Het |
| Zkscan3 |
C |
T |
13: 21,571,992 (GRCm39) |
G547S |
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 |
|
|
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 |
|
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'- TGAAGCTGGCCCACTCTAAG -3'
(R):5'- ATGGGTTATGCATGCACAAGC -3'
Sequencing Primer
(F):5'- GCTGGCCCACTCTAAGACATC -3'
(R):5'- CTGGAATTCCCCAAGTAGGCTAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation