Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Pitrm1'

564291

Institutional Source

Beutler Lab

Gene Symbol

Pitrm1

Ensembl Gene

ENSMUSG00000021193

Gene Name

pitrilysin metallepetidase 1

Synonyms

Ntup1, PreP, 2310012C15Rik, MP-1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6548149-6580515 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6556597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 229 (H229R)

Ref Sequence

ENSEMBL: ENSMUSP00000152229 (fasta)

Gene Model

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

AlphaFold

Q8K411

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021611
AA Change: H228R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: H228R

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 damaging
Transcript: ENSMUST00000222485
AA Change: H229R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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
Adamts5	A	G	16: 85,863,035	Y790H	probably damaging	Het
Bend3	A	C	10: 43,493,671	S7R	probably benign	Het
Ccdc106	A	G	7: 5,060,326	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,556,001	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,311,867	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cecr2	T	C	6: 120,762,529	S1406P	probably benign	Het
Cep290	A	G	10: 100,546,498	T208A	probably damaging	Het
Cep85l	A	C	10: 53,296,255	C569W	probably damaging	Het
Ces5a	G	A	8: 93,499,526	T527I	probably benign	Het
Clca2	T	A	3: 145,090,847	I200F	probably damaging	Het
Cmas	G	A	6: 142,770,586	D251N	probably damaging	Het
Ctcfl	G	T	2: 173,118,475	A105E	probably benign	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Dctn6	A	T	8: 34,090,808	I170N	probably damaging	Het
Dnah2	T	C	11: 69,431,094	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,591,931	V465I	possibly damaging	Het
Dzip1	T	C	14: 118,885,646	T646A	probably benign	Het
Etv4	T	A	11: 101,784,325		probably null	Het
Exoc3l2	T	C	7: 19,484,703	V549A	unknown	Het
Ficd	G	T	5: 113,738,819	A352S	probably damaging	Het
Fry	T	G	5: 150,466,786	I179S		Het
Galntl5	A	G	5: 25,195,300	H109R	probably benign	Het
Garem1	C	A	18: 21,148,754	G182W	probably damaging	Het
Gm10696	T	C	3: 94,176,360	E48G	probably benign	Het
Gm13078	T	A	4: 143,726,279	D93E	probably benign	Het
Gm5916	A	T	9: 36,120,989	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,479,201	F271I	probably benign	Het
Hivep2	G	T	10: 14,129,101	S481I	probably benign	Het
Homez	T	A	14: 54,857,420	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,319,896		probably null	Het
Igll1	A	G	16: 16,861,093	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,578,053		probably null	Het
Kif5b	A	G	18: 6,225,340	V230A	probably damaging	Het
Ldlr	T	A	9: 21,745,744	V719E	probably benign	Het
Lsm7	G	A	10: 80,853,731	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,892,238	D90E	probably benign	Het
Mmrn1	A	G	6: 60,976,114	K460E	probably damaging	Het
Myh10	A	C	11: 68,790,689	N1061H	probably damaging	Het
Nepn	A	G	10: 52,400,993	Q275R	probably benign	Het
Noc3l	A	T	19: 38,812,356	D227E	probably benign	Het
Nploc4	G	T	11: 120,428,550	S61R	probably benign	Het
Nr4a2	T	C	2: 57,112,369	Y24C	probably damaging	Het
Nup160	T	A	2: 90,723,355	I1143N	probably damaging	Het
Olfr1097	A	G	2: 86,890,612	S188P	probably damaging	Het
Olfr1234	A	T	2: 89,362,494	Y312N	probably benign	Het
Olfr294	G	T	7: 86,615,665	H327N	probably benign	Het
Olfr895	T	A	9: 38,268,708	M57K	probably damaging	Het
Papola	T	A	12: 105,809,345	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pgap1	A	T	1: 54,493,207		probably null	Het
Plcl1	A	G	1: 55,698,218	Q906R	probably benign	Het
Ppfia3	T	C	7: 45,341,743	N1018S	probably benign	Het
Prkd1	A	G	12: 50,388,342	V534A	possibly damaging	Het
Pygm	A	T	19: 6,385,896	I126F	probably benign	Het
Rag1	T	C	2: 101,642,070	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 91,884,518	Q560*	probably null	Het
Rbp3	A	T	14: 33,962,583	I1190F	possibly damaging	Het
Reln	T	C	5: 21,978,923	K1693E	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rsph3a	A	G	17: 7,946,170	T121A	probably benign	Het
Rufy3	A	G	5: 88,614,947	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,672,246	Q3548*	probably null	Het
Sardh	A	T	2: 27,218,812	V637D	probably benign	Het
Spata16	T	C	3: 26,667,867	V179A	probably benign	Het
Tbc1d30	G	A	10: 121,288,965	T319I	probably damaging	Het
Tlr2	T	A	3: 83,837,606	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,252,040		probably null	Het
Vmn1r113	T	A	7: 20,787,445	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,249,866	Y210S	probably damaging	Het
Zbbx	A	T	3: 75,039,898	H670Q	probably benign	Het

Other mutations in Pitrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Pitrm1	APN	13	6568666	missense	probably damaging	1.00
IGL01148:Pitrm1	APN	13	6573105	missense	probably benign
IGL01408:Pitrm1	APN	13	6573042	missense	probably damaging	1.00
IGL01557:Pitrm1	APN	13	6552684	missense	probably benign	0.37
IGL01803:Pitrm1	APN	13	6579435	missense	probably benign	0.00
IGL02111:Pitrm1	APN	13	6573145	missense	probably benign	0.45
IGL02217:Pitrm1	APN	13	6567341	splice site	probably benign
IGL02539:Pitrm1	APN	13	6568756	missense	probably benign	0.26
IGL02935:Pitrm1	APN	13	6553264	missense	probably damaging	1.00
IGL03028:Pitrm1	APN	13	6574393	missense	probably benign	0.00
IGL03112:Pitrm1	APN	13	6565008	missense	probably benign	0.10
FR4737:Pitrm1	UTSW	13	6560596	critical splice acceptor site	probably benign
FR4976:Pitrm1	UTSW	13	6560596	critical splice acceptor site	probably benign
R0078:Pitrm1	UTSW	13	6575032	missense	probably damaging	0.99
R0085:Pitrm1	UTSW	13	6549568	splice site	probably benign
R0089:Pitrm1	UTSW	13	6555639	missense	probably damaging	1.00
R0234:Pitrm1	UTSW	13	6575079	nonsense	probably null
R0234:Pitrm1	UTSW	13	6575079	nonsense	probably null
R0478:Pitrm1	UTSW	13	6559395	missense	probably damaging	0.99
R0496:Pitrm1	UTSW	13	6568714	missense	probably damaging	1.00
R0781:Pitrm1	UTSW	13	6558244	missense	probably benign	0.03
R1061:Pitrm1	UTSW	13	6555575	missense	probably damaging	0.99
R1110:Pitrm1	UTSW	13	6558244	missense	probably benign	0.03
R1170:Pitrm1	UTSW	13	6552744	splice site	probably benign
R1373:Pitrm1	UTSW	13	6570700	missense	probably benign	0.03
R1563:Pitrm1	UTSW	13	6563470	missense	possibly damaging	0.85
R1897:Pitrm1	UTSW	13	6560095	missense	possibly damaging	0.78
R1985:Pitrm1	UTSW	13	6558184	missense	probably damaging	1.00
R2075:Pitrm1	UTSW	13	6555383	missense	probably damaging	1.00
R2114:Pitrm1	UTSW	13	6557773	missense	probably damaging	1.00
R2115:Pitrm1	UTSW	13	6557773	missense	probably damaging	1.00
R2206:Pitrm1	UTSW	13	6569291	missense	probably damaging	1.00
R2207:Pitrm1	UTSW	13	6569291	missense	probably damaging	1.00
R2260:Pitrm1	UTSW	13	6560125	missense	probably damaging	1.00
R2568:Pitrm1	UTSW	13	6575092	missense	probably benign	0.15
R3409:Pitrm1	UTSW	13	6578481	missense	possibly damaging	0.81
R3756:Pitrm1	UTSW	13	6558235	missense	probably damaging	1.00
R4020:Pitrm1	UTSW	13	6556687	missense	probably damaging	1.00
R4327:Pitrm1	UTSW	13	6579773	utr 3 prime	probably benign
R4540:Pitrm1	UTSW	13	6555470	critical splice donor site	probably null
R4579:Pitrm1	UTSW	13	6558225	missense	probably benign	0.05
R4659:Pitrm1	UTSW	13	6553182	missense	probably benign	0.37
R4685:Pitrm1	UTSW	13	6556542	missense	probably benign	0.00
R4888:Pitrm1	UTSW	13	6578560	missense	probably damaging	1.00
R5072:Pitrm1	UTSW	13	6553190	missense	probably damaging	1.00
R5159:Pitrm1	UTSW	13	6567471	missense	probably benign	0.00
R5383:Pitrm1	UTSW	13	6577432	missense	probably damaging	1.00
R5470:Pitrm1	UTSW	13	6553270	missense	probably benign	0.07
R5606:Pitrm1	UTSW	13	6560065	missense	probably damaging	1.00
R6224:Pitrm1	UTSW	13	6565054	missense	probably damaging	1.00
R6302:Pitrm1	UTSW	13	6560061	missense	probably damaging	0.99
R6898:Pitrm1	UTSW	13	6555459	missense	probably damaging	1.00
R7021:Pitrm1	UTSW	13	6578557	missense	probably damaging	0.99
R7249:Pitrm1	UTSW	13	6560125	missense	probably damaging	1.00
R7363:Pitrm1	UTSW	13	6569351	missense	probably benign
R7502:Pitrm1	UTSW	13	6560622	missense	probably damaging	0.97
R7647:Pitrm1	UTSW	13	6555408	missense	probably damaging	1.00
R8392:Pitrm1	UTSW	13	6549660	missense	probably benign	0.30
R8514:Pitrm1	UTSW	13	6568786	critical splice donor site	probably null
R8745:Pitrm1	UTSW	13	6553202	missense	probably damaging	1.00
R8772:Pitrm1	UTSW	13	6578560	missense	probably damaging	1.00
R8934:Pitrm1	UTSW	13	6556630	missense	probably benign	0.07
R9086:Pitrm1	UTSW	13	6577481	missense	probably benign
R9369:Pitrm1	UTSW	13	6553244	missense	probably benign	0.03
R9417:Pitrm1	UTSW	13	6567358	missense	possibly damaging	0.88
R9566:Pitrm1	UTSW	13	6563416	missense	probably benign	0.30
R9616:Pitrm1	UTSW	13	6555566	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTTAAGAGAGCCAGTCCTCAG -3'
(R):5'- TGCCTCTTCACTAAATTTGAAGCC -3'

Sequencing Primer
(F):5'- GGTCCCAGCCACAGATCATGAG -3'
(R):5'- CAACACTACCTGGCATTG -3'

Posted On

2019-06-26