Mutagenetix > Incidental Mutations

Incidental Mutation 'R1061:Pitrm1'

94526

Institutional Source

Beutler Lab

Gene Symbol

Pitrm1

Ensembl Gene

ENSMUSG00000021193

Gene Name

pitrilysin metallepetidase 1

Synonyms

Ntup1, PreP, 2310012C15Rik, MP-1

MMRRC Submission

039147-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6548149-6580515 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6555575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 186 (H186R)

Ref Sequence

ENSEMBL: ENSMUSP00000152229 (fasta)

Gene Model

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

AlphaFold

Q8K411

Predicted Effect

probably damaging
Transcript: ENSMUST00000021611
AA Change: H185R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: H185R

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: H186R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,277,809	A715T	probably benign	Het
Ampd2	A	G	3: 108,075,689	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,398,191	V171E	probably damaging	Het
Arid4a	T	A	12: 71,074,955	S381R	probably damaging	Het
Armc8	T	G	9: 99,537,731	N51H	probably damaging	Het
Asic5	T	A	3: 82,021,001	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,164,069	K471*	probably null	Het
Birc6	A	G	17: 74,689,312	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,527,435	I139T	probably benign	Het
Ccdc114	T	C	7: 45,941,755	I218T	probably damaging	Het
Ccdc60	C	A	5: 116,172,468	R178S	possibly damaging	Het
Cd163	C	T	6: 124,309,169	A226V	probably benign	Het
Cog1	T	G	11: 113,652,037	S170A	probably benign	Het
Cwc15	T	C	9: 14,507,915	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,986,833	D333E	probably benign	Het
Ddc	C	T	11: 11,829,132	V331I	probably benign	Het
Dlc1	T	A	8: 36,858,051	T367S	probably benign	Het
Dnah17	T	C	11: 118,052,688	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,545,065	Y165*	probably null	Het
Eml6	T	C	11: 29,777,267	D1285G	probably damaging	Het
Fam92b	C	A	8: 120,169,704		probably null	Het
Fasn	T	C	11: 120,822,182		probably null	Het
Fbn1	T	C	2: 125,345,963	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713	Y384C	probably damaging	Het
Flvcr1	A	T	1: 191,008,173	V550E	probably benign	Het
Gcm2	A	G	13: 41,105,871	W41R	probably damaging	Het
Gli2	A	T	1: 118,854,517	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,150,307	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,204,155	S66T	probably benign	Het
Hsph1	A	T	5: 149,618,418	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,796,862	V220M	probably damaging	Het
Klhl25	T	A	7: 75,866,520	Y391*	probably null	Het
Mc2r	A	T	18: 68,407,809	Y138N	probably damaging	Het
Mtap	C	A	4: 89,156,584	D106E	probably benign	Het
Nup43	G	T	10: 7,667,671	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,326,363	E197D	probably damaging	Het
Olfr1098	A	T	2: 86,922,782	V250D	possibly damaging	Het
Olfr484	T	C	7: 108,124,456	Y269C	probably damaging	Het
Olfr544	T	A	7: 102,484,114	*335C	probably null	Het
Olfr934	C	A	9: 38,982,483	C187F	probably damaging	Het
Pklr	C	T	3: 89,144,881	R467C	probably damaging	Het
Plxna2	A	G	1: 194,644,093	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,508,614		probably null	Het
R3hcc1l	C	T	19: 42,583,426	R135*	probably null	Het
Ralyl	A	C	3: 14,115,701	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
S100a1	T	C	3: 90,511,312	N65S	probably damaging	Het
Scn11a	A	T	9: 119,795,663	M531K	probably damaging	Het
Slc5a5	T	A	8: 70,890,221	M232L	probably benign	Het
Tet3	A	T	6: 83,373,323	N1054K	probably damaging	Het
Tg	A	G	15: 66,698,559	N1427D	probably benign	Het
Tns1	A	C	1: 73,917,672	V530G	probably damaging	Het
Trcg1	C	A	9: 57,245,873	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,768,706	E40G	probably damaging	Het
Usp34	T	C	11: 23,384,420	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,061,644	T726I	probably benign	Het
Vmn2r97	A	T	17: 18,928,178	R112*	probably null	Het
Vwa2	G	T	19: 56,908,994	R577L	probably benign	Het
Vwa3b	A	C	1: 37,157,430	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,992,799		probably null	Het
Wrap53	A	G	11: 69,562,400	L405P	probably damaging	Het
Zfp629	C	A	7: 127,611,989	W216L	probably damaging	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
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
R7256:Pitrm1	UTSW	13	6556597	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

Predicted Primers

PCR Primer
(F):5'- TTCTGCTTTCACCGGAGGGAAATAC -3'
(R):5'- CATGTTAAAGGCCGCACTCATGC -3'

Sequencing Primer
(F):5'- GGCGTCTCGGATTTCAAAC -3'
(R):5'- TGCATGAACATGCTACACAC -3'

Posted On

2014-01-05