Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01557:Pitrm1'

90747

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 #

IGL01557

Quality Score

Status

Chromosome

Chromosomal Location

6598158-6630194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6602720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 70 (D70E)

Ref Sequence

ENSEMBL: ENSMUSP00000152229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021611] [ENSMUST00000221911] [ENSMUST00000222485]

AlphaFold

Q8K411

Predicted Effect

probably benign
Transcript: ENSMUST00000021611
AA Change: D69E

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: D69E

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 benign
Transcript: ENSMUST00000222485
AA Change: D70E

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,101,792 (GRCm39)		probably null	Het
Arl9	T	G	5: 77,151,948 (GRCm39)		probably null	Het
Ces3a	C	A	8: 105,784,383 (GRCm39)	T439K	probably damaging	Het
Cyp3a25	A	G	5: 145,921,711 (GRCm39)	W408R	probably damaging	Het
Defb22	T	G	2: 152,327,999 (GRCm39)	D62A	possibly damaging	Het
Dnah17	C	T	11: 117,964,512 (GRCm39)	R2422Q	probably damaging	Het
Ehd3	A	G	17: 74,112,275 (GRCm39)	K13R	probably benign	Het
Fndc1	T	C	17: 7,975,221 (GRCm39)	E1406G	probably damaging	Het
Gak	A	C	5: 108,732,203 (GRCm39)	Y762D	probably damaging	Het
Igf2r	A	G	17: 12,923,522 (GRCm39)	S1187P	possibly damaging	Het
Ighmbp2	T	C	19: 3,331,472 (GRCm39)	E68G	probably benign	Het
Itpr2	T	C	6: 146,060,474 (GRCm39)	T2448A	probably damaging	Het
Lrrk2	T	G	15: 91,584,192 (GRCm39)	C317W	probably damaging	Het
Morc1	T	A	16: 48,319,129 (GRCm39)	S278T	probably damaging	Het
Mrps9	T	C	1: 42,890,510 (GRCm39)	V20A	probably benign	Het
Nutm1	A	T	2: 112,082,163 (GRCm39)	N304K	probably benign	Het
Or14j8	G	A	17: 38,263,742 (GRCm39)	P58S	probably damaging	Het
Pcdhb9	T	C	18: 37,536,100 (GRCm39)	V698A	probably damaging	Het
Pkhd1	T	C	1: 20,187,203 (GRCm39)	T3702A	possibly damaging	Het
Ppm1h	A	T	10: 122,618,086 (GRCm39)		probably null	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptpn5	T	C	7: 46,731,636 (GRCm39)	Y411C	probably damaging	Het
Spon2	G	A	5: 33,374,047 (GRCm39)	A112V	probably damaging	Het
Zfp648	T	A	1: 154,080,426 (GRCm39)	V195D	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
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

2013-12-09