Mutagenetix > Incidental Mutation

Incidental Mutation 'R2207:Pitrm1'

239168

Institutional Source

Beutler Lab

Gene Symbol

Pitrm1

Ensembl Gene

ENSMUSG00000021193

Gene Name

pitrilysin metallepetidase 1

Synonyms

2310012C15Rik, Ntup1, PreP, MP-1

MMRRC Submission

040209-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2207 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6598158-6630194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6619327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 721 (Y721N)

Ref Sequence

ENSEMBL: ENSMUSP00000152229 (fasta)

Gene Model

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

AlphaFold

Q8K411

Predicted Effect

probably damaging
Transcript: ENSMUST00000021611
AA Change: Y682N

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

SMART Domains

Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: Y682N

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 damaging
Transcript: ENSMUST00000222485
AA Change: Y721N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223492

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,965 (GRCm39)		probably benign	Het
Abcb1b	C	T	5: 8,874,803 (GRCm39)	R488C	probably benign	Het
Adam34	T	C	8: 44,105,274 (GRCm39)	I124V	probably benign	Het
Aicda	T	A	6: 122,538,244 (GRCm39)	V134D	possibly damaging	Het
Akt2	T	A	7: 27,336,625 (GRCm39)		probably null	Het
Aldh1a3	T	C	7: 66,055,769 (GRCm39)	R341G	probably damaging	Het
Ankrd12	G	T	17: 66,338,569 (GRCm39)		probably null	Het
Anxa11	A	G	14: 25,874,721 (GRCm39)	Y244C	probably damaging	Het
Atp2c2	G	A	8: 120,475,048 (GRCm39)	R551Q	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bcl11a	G	T	11: 24,113,343 (GRCm39)	G229W	probably damaging	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,603,987 (GRCm39)	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133 (GRCm39)	Y109C	probably damaging	Het
Ccdc39	T	C	3: 33,890,882 (GRCm39)	I241V	probably damaging	Het
Ccdc9	A	G	7: 16,018,194 (GRCm39)		probably benign	Het
Cdk17	G	A	10: 93,064,624 (GRCm39)	D298N	probably damaging	Het
Cdkl3	A	G	11: 51,918,020 (GRCm39)	*354W	probably null	Het
Celf6	A	T	9: 59,511,610 (GRCm39)	Y401F	possibly damaging	Het
Clec4a4	C	T	6: 122,990,766 (GRCm39)	L169F	probably damaging	Het
Col14a1	T	C	15: 55,327,082 (GRCm39)	F1411L	unknown	Het
Col4a2	G	T	8: 11,493,352 (GRCm39)	G1354W	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cst13	A	T	2: 148,665,202 (GRCm39)	R66W	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dhx8	A	G	11: 101,641,797 (GRCm39)	T632A	probably benign	Het
Disp1	A	G	1: 182,869,906 (GRCm39)	F838S	possibly damaging	Het
Dlg1	A	G	16: 31,672,664 (GRCm39)	H599R	probably benign	Het
Dnah12	T	A	14: 26,503,744 (GRCm39)	V1654E	probably damaging	Het
Dnah5	C	T	15: 28,343,817 (GRCm39)	L2406F	probably benign	Het
Fam98b	C	G	2: 117,098,300 (GRCm39)	R257G	probably damaging	Het
Fbn2	A	T	18: 58,214,471 (GRCm39)	C900*	probably null	Het
Fgf1	A	G	18: 38,980,138 (GRCm39)	Y79H	possibly damaging	Het
Foxn1	C	A	11: 78,249,630 (GRCm39)	A632S	probably benign	Het
Fsip2	T	G	2: 82,807,823 (GRCm39)	S1381A	probably benign	Het
Gtf2b	G	A	3: 142,484,081 (GRCm39)	G85D	probably benign	Het
Gyg1	C	A	3: 20,204,703 (GRCm39)	G161C	probably damaging	Het
Hemgn	G	T	4: 46,396,301 (GRCm39)	L312I	possibly damaging	Het
Hic2	T	C	16: 17,075,324 (GRCm39)	M51T	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hpx	C	T	7: 105,241,633 (GRCm39)	R287H	probably damaging	Het
Igf2bp3	C	T	6: 49,065,488 (GRCm39)	G468E	possibly damaging	Het
Il5ra	C	A	6: 106,689,402 (GRCm39)	E397*	probably null	Het
Itfg1	A	T	8: 86,502,827 (GRCm39)	S246R	probably benign	Het
Kdm2a	A	T	19: 4,412,898 (GRCm39)	D29E	probably damaging	Het
Lamc2	T	G	1: 153,009,452 (GRCm39)	E784D	possibly damaging	Het
Lrp2	A	T	2: 69,297,372 (GRCm39)	N3196K	possibly damaging	Het
Lyzl1	T	A	18: 4,181,962 (GRCm39)	C96*	probably null	Het
Maf1	A	G	15: 76,236,718 (GRCm39)	T17A	probably benign	Het
Map1b	T	C	13: 99,567,591 (GRCm39)	D1710G	unknown	Het
Megf8	C	T	7: 25,049,222 (GRCm39)	T1773I	probably damaging	Het
Mei1	T	C	15: 81,987,450 (GRCm39)	M414T	probably benign	Het
Myo15a	A	G	11: 60,396,860 (GRCm39)	N2643S	probably benign	Het
Ndufa9	A	G	6: 126,821,772 (GRCm39)	Y64H	probably damaging	Het
Neb	A	T	2: 52,101,579 (GRCm39)	L4354*	probably null	Het
Nom1	T	A	5: 29,644,972 (GRCm39)	I480N	probably damaging	Het
Nrxn3	C	T	12: 89,315,082 (GRCm39)	T331M	probably damaging	Het
Or1a1	G	T	11: 74,087,150 (GRCm39)	V274L	possibly damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or4f14b	A	C	2: 111,775,270 (GRCm39)	F177C	probably damaging	Het
Or51a42	A	G	7: 103,708,612 (GRCm39)	S66P	probably damaging	Het
Pcdhb15	A	T	18: 37,608,075 (GRCm39)	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,624,342 (GRCm39)	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,468,633 (GRCm39)	M518T	probably benign	Het
Pgm2l1	T	A	7: 99,917,319 (GRCm39)		probably null	Het
Pih1d2	C	A	9: 50,532,379 (GRCm39)	H162N	probably benign	Het
Pla2r1	C	A	2: 60,288,779 (GRCm39)	V618F	probably damaging	Het
Plb1	T	C	5: 32,473,984 (GRCm39)	S599P	possibly damaging	Het
Prkg1	T	C	19: 30,556,260 (GRCm39)	D562G	probably damaging	Het
Proser1	T	G	3: 53,385,812 (GRCm39)	S565A	probably benign	Het
Prx	T	A	7: 27,216,213 (GRCm39)	V238E	probably damaging	Het
Psapl1	T	C	5: 36,362,509 (GRCm39)	I367T	probably damaging	Het
Rc3h1	T	C	1: 160,767,595 (GRCm39)	V128A	probably damaging	Het
Rrm1	T	A	7: 102,091,233 (GRCm39)	M1K	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsl1	A	G	13: 67,330,892 (GRCm39)	T447A	probably benign	Het
Ryr2	A	G	13: 11,825,823 (GRCm39)	S552P	probably damaging	Het
Sbf1	A	G	15: 89,190,896 (GRCm39)	S225P	possibly damaging	Het
Serpina3c	T	A	12: 104,117,757 (GRCm39)	I194F	probably benign	Het
Setd3	C	T	12: 108,073,544 (GRCm39)	V578M	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc6a1	T	A	6: 114,285,632 (GRCm39)	V356E	probably damaging	Het
Slfn1	A	G	11: 83,011,992 (GRCm39)	E36G	possibly damaging	Het
Sorcs1	T	C	19: 50,218,655 (GRCm39)	H609R	possibly damaging	Het
Spag16	A	G	1: 70,764,043 (GRCm39)	H621R	probably benign	Het
Spata31d1e	A	G	13: 59,890,920 (GRCm39)	V300A	probably benign	Het
Tg	G	A	15: 66,553,788 (GRCm39)	G401D	probably benign	Het
Tnxb	A	C	17: 34,928,391 (GRCm39)	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,839,701 (GRCm39)	N1643S	probably benign	Het
Ttn	G	A	2: 76,709,687 (GRCm39)	R1581*	probably null	Het
Ttn	A	T	2: 76,796,155 (GRCm39)	I590K	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Wdr7	T	A	18: 63,910,678 (GRCm39)	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,194,228 (GRCm39)	E36D	possibly damaging	Het
Zfp131	A	T	13: 120,237,348 (GRCm39)	F303I	probably damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp788	A	T	7: 41,299,064 (GRCm39)	I567F	probably damaging	Het
Zfyve26	A	G	12: 79,292,861 (GRCm39)	V2096A	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
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

Predicted Primers

PCR Primer
(F):5'- TGCCAAGTGATTTGCCTCAC -3'
(R):5'- TGGGTTATGCATGCACAAGC -3'

Sequencing Primer
(F):5'- GCCTCACTTGTCAGATTCTAGTCAG -3'
(R):5'- CTGGAATTCCCCAAGTAGGCTAG -3'

Posted On

2014-10-02