Mutagenetix > Incidental Mutation

Incidental Mutation 'R5567:Parl'

436963

Institutional Source

Beutler Lab

Gene Symbol

Parl

Ensembl Gene

ENSMUSG00000033918

Gene Name

presenilin associated, rhomboid-like

Synonyms

D16Ertd607e, PSENIP2, PRO2207, Psarl, PSARL1

MMRRC Submission

043124-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R5567 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

20098570-20121090 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20101762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 90 (M90T)

Ref Sequence

ENSEMBL: ENSMUSP00000155904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048642] [ENSMUST00000133153] [ENSMUST00000136252] [ENSMUST00000152887] [ENSMUST00000232036] [ENSMUST00000232484]

AlphaFold

Q5XJY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000048642
AA Change: M279T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045361
Gene: ENSMUSG00000033918
AA Change: M279T

Domain	Start	End	E-Value	Type
transmembrane domain	100	119	N/A	INTRINSIC
transmembrane domain	166	185	N/A	INTRINSIC
Pfam:Rhomboid	199	351	9.4e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126001

Predicted Effect

probably benign
Transcript: ENSMUST00000133153

Predicted Effect

probably benign
Transcript: ENSMUST00000136252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136700

Predicted Effect

probably damaging
Transcript: ENSMUST00000152887
AA Change: M90T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155832

Predicted Effect

probably benign
Transcript: ENSMUST00000231547

Predicted Effect

probably benign
Transcript: ENSMUST00000232036

Predicted Effect

probably benign
Transcript: ENSMUST00000232484

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	T	6: 86,932,150 (GRCm39)	Q374*	probably null	Het
Adam19	A	G	11: 46,027,077 (GRCm39)	D570G	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Bltp3b	T	A	10: 89,644,383 (GRCm39)	M29K	probably benign	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cdh9	A	G	15: 16,855,930 (GRCm39)	T657A	probably damaging	Het
Cep104	T	C	4: 154,086,734 (GRCm39)	S794P	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Csmd3	A	T	15: 47,508,864 (GRCm39)	M2907K	possibly damaging	Het
Cspg4	A	C	9: 56,793,932 (GRCm39)	I556L	probably benign	Het
Cwf19l2	T	A	9: 3,456,831 (GRCm39)	D721E	probably damaging	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dna2	G	T	10: 62,802,452 (GRCm39)	A857S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,444,044 (GRCm39)	C619*	probably null	Het
Ftcd	A	G	10: 76,423,967 (GRCm39)	K503E	probably benign	Het
Gbp2b	C	T	3: 142,317,126 (GRCm39)	A494V	possibly damaging	Het
Gfral	C	T	9: 76,115,900 (GRCm39)	A25T	probably benign	Het
Gins2	T	A	8: 121,315,684 (GRCm39)	D24V	possibly damaging	Het
Gm10985	T	C	3: 53,752,683 (GRCm39)	I22T	probably damaging	Het
Golga4	T	A	9: 118,387,251 (GRCm39)	S1458T	probably damaging	Het
Gpatch1	T	C	7: 35,006,640 (GRCm39)	K176R	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Itpr3	C	T	17: 27,322,880 (GRCm39)	T1119M	possibly damaging	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Klk1b1	T	A	7: 43,620,593 (GRCm39)	S228T	probably damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Large1	A	G	8: 73,564,081 (GRCm39)	S562P	possibly damaging	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Lrriq1	G	A	10: 103,006,457 (GRCm39)	P1223S	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Morn2	A	G	17: 80,604,709 (GRCm39)	D128G	probably damaging	Het
Msl2	A	G	9: 100,978,936 (GRCm39)	K437E	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Mxra8	T	C	4: 155,925,465 (GRCm39)	M58T	probably damaging	Het
Myo16	A	G	8: 10,372,676 (GRCm39)	D125G	probably damaging	Het
Myom2	A	G	8: 15,152,546 (GRCm39)	Q631R	probably benign	Het
Nlrp1b	T	A	11: 71,072,229 (GRCm39)	H538L	probably benign	Het
Nme3	T	A	17: 25,115,823 (GRCm39)		probably null	Het
Nop2	T	C	6: 125,110,726 (GRCm39)	S68P	probably benign	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nub1	A	G	5: 24,913,814 (GRCm39)	E565G	possibly damaging	Het
Or1e19	C	T	11: 73,316,272 (GRCm39)	C179Y	probably damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or7e168	A	G	9: 19,719,674 (GRCm39)	D20G	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Plb1	A	G	5: 32,521,543 (GRCm39)	T1465A	unknown	Het
Plxna4	T	C	6: 32,134,915 (GRCm39)	N1763D	possibly damaging	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Ralb	C	T	1: 119,411,265 (GRCm39)	V25I	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rnf43	A	G	11: 87,618,271 (GRCm39)	E187G	probably damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scap	A	G	9: 110,206,712 (GRCm39)	S386G	probably damaging	Het
Skint10	T	C	4: 112,573,067 (GRCm39)	Y243C	probably damaging	Het
Stpg2	A	G	3: 139,125,547 (GRCm39)	T447A	probably benign	Het
Tas1r1	G	A	4: 152,122,782 (GRCm39)	A21V	probably damaging	Het
Tas2r122	C	T	6: 132,688,335 (GRCm39)	G186E	probably benign	Het
Tenm4	C	A	7: 96,545,416 (GRCm39)	Y2477*	probably null	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmcc2	A	C	1: 132,285,543 (GRCm39)	S608A	probably benign	Het
Ttc41	T	C	10: 86,596,784 (GRCm39)		probably null	Het
Ttk	T	A	9: 83,744,588 (GRCm39)	N593K	possibly damaging	Het
Tulp1	A	G	17: 28,578,172 (GRCm39)	V289A	possibly damaging	Het
Unc93a2	T	C	17: 7,631,202 (GRCm39)	T456A	probably benign	Het
Usp34	A	C	11: 23,438,336 (GRCm39)	Q278P	probably damaging	Het
Vmn2r78	T	A	7: 86,570,737 (GRCm39)	D418E	probably benign	Het
Vmn2r90	C	T	17: 17,932,336 (GRCm39)	A81V	probably damaging	Het
Xpc	T	A	6: 91,475,117 (GRCm39)	N636I	probably damaging	Het
Zfp563	A	T	17: 33,308,431 (GRCm39)		probably benign	Het

Other mutations in Parl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Parl	APN	16	20,116,958 (GRCm39)	missense	probably damaging	0.99
IGL01013:Parl	APN	16	20,101,540 (GRCm39)	missense	possibly damaging	0.50
IGL02159:Parl	APN	16	20,098,838 (GRCm39)	splice site	probably benign
IGL02189:Parl	APN	16	20,116,453 (GRCm39)	missense	probably damaging	1.00
R0233:Parl	UTSW	16	20,106,657 (GRCm39)	missense	probably damaging	0.96
R1301:Parl	UTSW	16	20,105,676 (GRCm39)	missense	probably damaging	1.00
R1954:Parl	UTSW	16	20,121,077 (GRCm39)	start codon destroyed	possibly damaging	0.95
R1955:Parl	UTSW	16	20,121,077 (GRCm39)	start codon destroyed	possibly damaging	0.95
R2353:Parl	UTSW	16	20,105,790 (GRCm39)	missense	probably benign	0.08
R3884:Parl	UTSW	16	20,101,762 (GRCm39)	missense	probably damaging	0.98
R5345:Parl	UTSW	16	20,116,892 (GRCm39)	missense	probably damaging	0.99
R5477:Parl	UTSW	16	20,098,824 (GRCm39)	missense	possibly damaging	0.90
R5687:Parl	UTSW	16	20,106,728 (GRCm39)	intron	probably benign
R6238:Parl	UTSW	16	20,120,963 (GRCm39)	missense	possibly damaging	0.94
R7311:Parl	UTSW	16	20,106,625 (GRCm39)	missense	probably benign	0.02
R8028:Parl	UTSW	16	20,098,801 (GRCm39)	missense	probably benign	0.31
R8971:Parl	UTSW	16	20,116,909 (GRCm39)	missense	probably damaging	1.00
R9696:Parl	UTSW	16	20,105,690 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTGTATCCATGGCAATGATGG -3'
(R):5'- ATTATGTGACAACCTGGGTCCC -3'

Sequencing Primer
(F):5'- GCCTAGAAGCCAGGAAGATAAAAC -3'
(R):5'- GGGTCCCTTTCTCTGATACTGTG -3'

Posted On

2016-10-24