Mutagenetix > Incidental Mutation

Incidental Mutation 'R9566:Pitrm1'

721625

Institutional Source

Beutler Lab

Gene Symbol

Pitrm1

Ensembl Gene

ENSMUSG00000021193

Gene Name

pitrilysin metallepetidase 1

Synonyms

2310012C15Rik, Ntup1, PreP, MP-1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9566 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6598158-6630194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6613452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 508 (D508G)

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: D469G

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: D469G

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: D508G

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	G	A	2: 151,314,226 (GRCm39)	T484I	probably benign	Het
4930568D16Rik	C	A	2: 35,244,645 (GRCm39)	E236*	probably null	Het
Abca13	C	A	11: 9,414,927 (GRCm39)	T3998K	probably damaging	Het
Adam8	A	G	7: 139,565,285 (GRCm39)	V643A	probably benign	Het
Adamtsl2	T	C	2: 26,979,773 (GRCm39)		probably null	Het
Akr1c18	A	T	13: 4,195,203 (GRCm39)		probably null	Het
Atf7ip2	C	T	16: 10,044,893 (GRCm39)	S222L	probably benign	Het
Atp2c1	A	T	9: 105,343,828 (GRCm39)	I127N	probably damaging	Het
Bcl11b	A	G	12: 107,881,784 (GRCm39)	Y844H	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Btnl4	A	G	17: 34,688,263 (GRCm39)	I505T	probably benign	Het
Cacna1b	G	A	2: 24,498,092 (GRCm39)	Q2024*	probably null	Het
Cars1	A	G	7: 143,113,384 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,193,026 (GRCm39)	K49E	probably benign	Het
Ccnk	A	G	12: 108,152,695 (GRCm39)	N4S	probably benign	Het
Cfap91	A	G	16: 38,155,996 (GRCm39)	F76L	probably damaging	Het
Clasp1	A	G	1: 118,479,801 (GRCm39)	D1027G	probably benign	Het
Copb1	A	T	7: 113,825,997 (GRCm39)	N662K	probably benign	Het
Cox8b	C	T	7: 140,478,926 (GRCm39)	S63N	probably benign	Het
Cpa4	C	A	6: 30,579,608 (GRCm39)	D138E	probably benign	Het
Dcc	A	G	18: 71,943,866 (GRCm39)	C262R	possibly damaging	Het
Dennd5a	C	T	7: 109,533,254 (GRCm39)	G172E	probably benign	Het
Dgke	C	T	11: 88,932,273 (GRCm39)		probably null	Het
Dnah11	A	G	12: 117,938,728 (GRCm39)	Y3247H	possibly damaging	Het
Dnajc21	T	G	15: 10,464,019 (GRCm39)	I49L	possibly damaging	Het
Dnm1	A	G	2: 32,228,011 (GRCm39)		probably null	Het
Ecd	A	T	14: 20,393,368 (GRCm39)	Y93*	probably null	Het
Epm2aip1	T	C	9: 111,101,807 (GRCm39)	L260P	probably damaging	Het
Eqtn	G	A	4: 94,813,185 (GRCm39)	P134S	probably damaging	Het
Ercc1	T	A	7: 19,088,377 (GRCm39)	C243*	probably null	Het
Fbln2	C	A	6: 91,231,513 (GRCm39)	H537N	probably benign	Het
Ffar2	A	G	7: 30,518,847 (GRCm39)	F231S	probably damaging	Het
Fhod1	G	A	8: 106,064,516 (GRCm39)	A172V	unknown	Het
Gbp8	C	T	5: 105,198,799 (GRCm39)	V39M	probably damaging	Het
Gm5773	T	C	3: 93,680,742 (GRCm39)	L138P	probably damaging	Het
Gtf2ird2	A	G	5: 134,246,256 (GRCm39)	E838G	probably damaging	Het
Gucy2e	C	A	11: 69,118,947 (GRCm39)	V682L	probably damaging	Het
Hmcn1	T	G	1: 150,498,660 (GRCm39)	N4073T	probably benign	Het
Il22b	A	T	10: 118,130,860 (GRCm39)	L12H	probably damaging	Het
Ist1	A	T	8: 110,408,816 (GRCm39)	S94T	probably benign	Het
Klhl24	A	T	16: 19,934,669 (GRCm39)	N381Y	probably damaging	Het
Krtap24-1	C	T	16: 88,408,886 (GRCm39)	C80Y		Het
Lcp2	T	A	11: 34,000,944 (GRCm39)	D42E		Het
Map1s	G	A	8: 71,365,580 (GRCm39)	A162T	probably benign	Het
Mbd5	T	G	2: 49,169,521 (GRCm39)	V1564G	probably damaging	Het
Mettl15	A	T	2: 108,923,592 (GRCm39)	S277T	possibly damaging	Het
Mfsd12	C	G	10: 81,196,962 (GRCm39)	T177S	probably benign	Het
Mlxipl	A	G	5: 135,152,616 (GRCm39)	D244G	possibly damaging	Het
Mutyh	G	A	4: 116,673,780 (GRCm39)	V164M	probably damaging	Het
Mypop	A	G	7: 18,726,534 (GRCm39)	D167G	probably benign	Het
Nbeal2	C	T	9: 110,457,989 (GRCm39)	V2169M	probably benign	Het
Nifk	G	T	1: 118,260,492 (GRCm39)	V259F	probably damaging	Het
Oasl1	A	G	5: 115,066,331 (GRCm39)	T150A	probably benign	Het
Obox6	G	A	7: 15,568,352 (GRCm39)	R175C		Het
Or2y11	T	C	11: 49,443,162 (GRCm39)	V196A	probably benign	Het
Or5p52	T	A	7: 107,502,409 (GRCm39)	C162S	possibly damaging	Het
Or5p69	A	T	7: 107,966,783 (GRCm39)	I29F	probably benign	Het
Per3	A	G	4: 151,113,335 (GRCm39)	F331S		Het
Plec	T	A	15: 76,062,790 (GRCm39)	I2427F	possibly damaging	Het
Prkd3	A	T	17: 79,292,652 (GRCm39)	V140D	probably damaging	Het
Prpf3	G	A	3: 95,760,800 (GRCm39)	A34V	probably damaging	Het
Ptar1	A	G	19: 23,686,206 (GRCm39)	T173A	probably benign	Het
Resf1	A	G	6: 149,227,352 (GRCm39)	N133D	possibly damaging	Het
Rest	G	T	5: 77,416,277 (GRCm39)	E164*	probably null	Het
Rnpepl1	A	C	1: 92,847,468 (GRCm39)	D685A		Het
Sc5d	T	C	9: 42,170,008 (GRCm39)	N71S	probably damaging	Het
Serpinb3c	A	T	1: 107,200,425 (GRCm39)	S239R	probably damaging	Het
Slc28a3	C	T	13: 58,758,653 (GRCm39)		probably benign	Het
Smagp	T	C	15: 100,519,844 (GRCm39)	Y60C	probably damaging	Het
Spink10	T	A	18: 62,790,939 (GRCm39)	M75K	probably benign	Het
Spryd7	T	C	14: 61,777,639 (GRCm39)	N147S	probably benign	Het
Steap4	A	G	5: 8,025,646 (GRCm39)	E69G	possibly damaging	Het
Svil	C	A	18: 5,099,661 (GRCm39)	H1732Q	probably damaging	Het
Tgoln1	T	C	6: 72,592,911 (GRCm39)	T190A	probably benign	Het
Tmem63c	C	T	12: 87,108,305 (GRCm39)	S106F	possibly damaging	Het
Trpv5	T	C	6: 41,637,456 (GRCm39)	D375G	probably null	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ugt2b38	A	G	5: 87,558,209 (GRCm39)	L484P	probably damaging	Het
Uox	A	T	3: 146,330,308 (GRCm39)	T179S	possibly damaging	Het
Usp34	A	G	11: 23,317,529 (GRCm39)	I882V		Het
Vmn2r124	A	G	17: 18,293,581 (GRCm39)	K556R	probably benign	Het
Vmn2r57	A	G	7: 41,077,089 (GRCm39)	F359S	probably benign	Het
Wasf2	T	C	4: 132,921,766 (GRCm39)	V295A	unknown	Het
Znhit1	G	A	5: 137,015,785 (GRCm39)		probably benign	Het
Zscan22	C	T	7: 12,640,866 (GRCm39)	T370M	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
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
R9616:Pitrm1	UTSW	13	6,605,602 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGAACAGTCTGCTTGTGAGG -3'
(R):5'- TCAAGCCAGTCATACAAATCGG -3'

Sequencing Primer
(F):5'- GCCCTAATGAAGTTCTCATCATTGG -3'
(R):5'- ATCGGATCCCTCCTACACATCG -3'

Posted On

2022-08-09