Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Pitrm1'

232957

Institutional Source

Beutler Lab

Gene Symbol

Pitrm1

Ensembl Gene

ENSMUSG00000021193

Gene Name

pitrilysin metallepetidase 1

Synonyms

2310012C15Rik, Ntup1, PreP, MP-1

MMRRC Submission

040118-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6598158-6630194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6607809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 268 (Y268F)

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: Y267F

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

SMART Domains

Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: Y267F

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: Y268F

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

Meta Mutation Damage Score

0.5169

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 154,889,649 (GRCm39)	R72G	probably benign	Het
Adgrb1	T	A	15: 74,412,411 (GRCm39)		probably null	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,926,001 (GRCm39)	V685I	probably benign	Het
Apba3	T	C	10: 81,108,946 (GRCm39)	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Bmp10	A	C	6: 87,411,441 (GRCm39)	E411D	probably benign	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Ces1a	A	G	8: 93,766,179 (GRCm39)	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,312,561 (GRCm39)	V345I	probably damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Col5a2	T	A	1: 45,415,964 (GRCm39)	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,121,018 (GRCm39)	N1492S	probably damaging	Het
Dock3	T	C	9: 106,870,743 (GRCm39)	N557S	probably benign	Het
Edem2	G	A	2: 155,544,479 (GRCm39)	R424C	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Eya1	A	T	1: 14,340,998 (GRCm39)	F163I	probably damaging	Het
Ezh1	A	C	11: 101,099,011 (GRCm39)	S290A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Fat4	A	T	3: 39,035,633 (GRCm39)	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,639,711 (GRCm39)	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,612,122 (GRCm39)	C173W	probably damaging	Het
Gcc2	T	A	10: 58,105,362 (GRCm39)	C99*	probably null	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gm266	T	G	12: 111,452,116 (GRCm39)	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,563,838 (GRCm39)	E264V	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ikzf1	T	G	11: 11,719,473 (GRCm39)	H480Q	probably damaging	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,716,322 (GRCm39)	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,650,421 (GRCm39)	M4T	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Madd	A	G	2: 90,994,367 (GRCm39)	V884A	probably damaging	Het
Maz	C	A	7: 126,624,677 (GRCm39)	C281F	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mrm3	T	C	11: 76,135,347 (GRCm39)	M186T	possibly damaging	Het
Naprt	T	C	15: 75,763,637 (GRCm39)	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,246,334 (GRCm39)	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Obscn	C	T	11: 59,022,484 (GRCm39)	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,569,265 (GRCm39)	E137G	probably damaging	Het
Pdk2	A	G	11: 94,918,088 (GRCm39)	Y382H	probably damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pik3r2	T	C	8: 71,222,029 (GRCm39)	I585V	probably benign	Het
Polr2b	G	A	5: 77,468,817 (GRCm39)	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,311,243 (GRCm39)	N9D	probably damaging	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,574,711 (GRCm39)	M236L	possibly damaging	Het
Prkar2b	T	A	12: 32,017,279 (GRCm39)	N257I	probably damaging	Het
Prkcd	A	G	14: 30,327,808 (GRCm39)	C208R	probably damaging	Het
Prkch	T	A	12: 73,749,290 (GRCm39)	S347T	probably benign	Het
Prr12	A	G	7: 44,695,506 (GRCm39)	V1320A	unknown	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rgr	T	A	14: 36,760,809 (GRCm39)		probably null	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,387,024 (GRCm39)	E781V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Rusc1	T	C	3: 88,999,014 (GRCm39)	D256G	probably benign	Het
Scap	T	C	9: 110,210,341 (GRCm39)	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Slc24a2	C	T	4: 86,909,592 (GRCm39)	V664I	probably benign	Het
Stim2	A	G	5: 54,261,819 (GRCm39)	Q237R	probably damaging	Het
Synpo2	T	A	3: 122,873,537 (GRCm39)	H1143L	probably benign	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcf23	G	A	5: 31,130,919 (GRCm39)	D186N	probably benign	Het
Tcf3	C	A	10: 80,246,040 (GRCm39)	G628W	probably damaging	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Ttn	A	T	2: 76,577,352 (GRCm39)	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,382,484 (GRCm39)	E587G	probably benign	Het
Ubr4	A	T	4: 139,156,922 (GRCm39)	K2316*	probably null	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Vat1	A	T	11: 101,356,568 (GRCm39)	V131E	probably damaging	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Zfp1005	T	A	2: 150,109,819 (GRCm39)	C170S	unknown	Het
Zfp592	G	A	7: 80,674,544 (GRCm39)	V503M	probably damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zscan30	A	G	18: 24,104,173 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- CTGCAGTGCCTTTATAGCAGG -3'
(R):5'- TCCATTTAACAGGCATGAGGG -3'

Sequencing Primer
(F):5'- GCTCTGTGTAGTTAAGACTGCC -3'
(R):5'- CATTTAACAGGCATGAGGGACACAC -3'

Posted On

2014-09-18