Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01148:Pitrm1'

52635

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pitrm1

Ensembl Gene

ENSMUSG00000021193

Gene Name

pitrilysin metallepetidase 1

Synonyms

2310012C15Rik, Ntup1, PreP, MP-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01148

Quality Score

Status

Chromosome

Chromosomal Location

6598158-6630194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6623141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 801 (R801G)

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: R762G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: R762G

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: ENSMUST00000221431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222061

Predicted Effect

probably benign
Transcript: ENSMUST00000222485
AA Change: R801G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223492

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	T	11: 69,781,729 (GRCm39)	C64*	probably null	Het
Ccng2	G	A	5: 93,418,746 (GRCm39)	D124N	probably damaging	Het
Cttnbp2	G	A	6: 18,382,817 (GRCm39)	P1317L	probably damaging	Het
Dsg1a	T	A	18: 20,453,982 (GRCm39)	V29E	probably damaging	Het
Exoc6b	T	C	6: 84,885,208 (GRCm39)	K244E	probably benign	Het
Fastkd5	A	G	2: 130,456,605 (GRCm39)	F662L	probably benign	Het
Fbxl18	T	C	5: 142,871,580 (GRCm39)	M488V	probably damaging	Het
Gas2l3	C	T	10: 89,249,366 (GRCm39)	G584D	probably benign	Het
Gm28042	T	C	2: 119,869,519 (GRCm39)	F405L	possibly damaging	Het
Gtf3c2	T	C	5: 31,317,168 (GRCm39)	K635E	probably damaging	Het
H2-Q2	A	G	17: 35,561,654 (GRCm39)	Y48C	probably damaging	Het
Hddc2	T	C	10: 31,192,330 (GRCm39)	I78T	probably damaging	Het
Hspg2	T	A	4: 137,273,969 (GRCm39)	M2708K	probably benign	Het
Ift88	T	C	14: 57,677,189 (GRCm39)	S119P	probably benign	Het
Mta2	T	C	19: 8,925,668 (GRCm39)	C388R	probably damaging	Het
Mymx	G	T	17: 45,912,594 (GRCm39)		probably benign	Het
Naga	A	G	15: 82,214,861 (GRCm39)	Y366H	possibly damaging	Het
Nlrp9a	A	G	7: 26,257,006 (GRCm39)	E208G	probably damaging	Het
Nr4a2	C	T	2: 57,001,983 (GRCm39)	V94M	probably benign	Het
Or4c124	G	T	2: 89,156,368 (GRCm39)	T52K	probably benign	Het
Osbpl8	G	T	10: 111,112,424 (GRCm39)		probably benign	Het
Pitpnb	T	A	5: 111,486,222 (GRCm39)	V42D	probably damaging	Het
Pthlh	G	A	6: 147,154,073 (GRCm39)	T174M	probably benign	Het
Sco2	T	C	15: 89,255,924 (GRCm39)	I243M	probably benign	Het
Sema5a	G	A	15: 32,681,641 (GRCm39)	V907M	probably benign	Het
Semp2l1	A	G	1: 32,584,735 (GRCm39)	S392P	possibly damaging	Het
Spata31e2	T	C	1: 26,724,253 (GRCm39)	E309G	probably benign	Het
Stac2	T	A	11: 97,934,387 (GRCm39)	K106*	probably null	Het
Tas2r105	T	A	6: 131,663,815 (GRCm39)	R204S	probably damaging	Het
Tgm5	A	G	2: 120,877,156 (GRCm39)		probably null	Het
Trpm1	A	G	7: 63,893,312 (GRCm39)	I939V	probably damaging	Het
Ttll11	T	A	2: 35,674,205 (GRCm39)	N574I	probably damaging	Het
Zfand3	A	T	17: 30,354,374 (GRCm39)	T64S	probably benign	Het
Zfyve26	G	A	12: 79,307,644 (GRCm39)	H312Y	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
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
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

Posted On

2013-06-21