Mutagenetix > Incidental Mutation

Incidental Mutation 'R6238:Parl'

505080

Institutional Source

Beutler Lab

Gene Symbol

Parl

Ensembl Gene

ENSMUSG00000033918

Gene Name

presenilin associated, rhomboid-like

Synonyms

D16Ertd607e, PSENIP2, PRO2207, Psarl, PSARL1

MMRRC Submission

044401-MU

Accession Numbers

Essential gene?

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

Stock #

R6238 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

20098570-20121090 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20120963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 39 (R39C)

Ref Sequence

ENSEMBL: ENSMUSP00000119060 (fasta)

Gene Model

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

AlphaFold

Q5XJY4

Predicted Effect

probably benign
Transcript: ENSMUST00000048642
AA Change: R39C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045361
Gene: ENSMUSG00000033918
AA Change: R39C

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

possibly damaging
Transcript: ENSMUST00000133153
AA Change: R39C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000136252
AA Change: R39C

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143648

Predicted Effect

probably benign
Transcript: ENSMUST00000152887

Predicted Effect

probably benign
Transcript: ENSMUST00000232036
AA Change: R39C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

unknown
Transcript: ENSMUST00000232484
AA Change: R39C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153275

Meta Mutation Damage Score

0.1040

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	C	10: 76,285,096 (GRCm39)	T2P	possibly damaging	Het
2610042L04Rik	A	G	14: 4,348,962 (GRCm38)	N41S	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,863 (GRCm39)	D43G	probably benign	Het
Adcy10	C	A	1: 165,403,297 (GRCm39)	Y1598*	probably null	Het
Adgrv1	G	A	13: 81,614,402 (GRCm39)	T3997M	probably benign	Het
Amfr	A	C	8: 94,726,992 (GRCm39)	F74V	probably damaging	Het
Ankrd13a	T	C	5: 114,924,787 (GRCm39)	Y91H	probably benign	Het
Baiap3	A	G	17: 25,464,732 (GRCm39)	S767P	probably benign	Het
Car12	C	T	9: 66,661,008 (GRCm39)	T124I	probably damaging	Het
Casp9	G	T	4: 141,534,448 (GRCm39)	G286V	probably damaging	Het
Cc2d2a	T	A	5: 43,828,577 (GRCm39)	D18E	probably benign	Het
Cdc27	T	C	11: 104,419,270 (GRCm39)	N221D	probably damaging	Het
Cebpz	A	G	17: 79,244,339 (GRCm39)	S41P	possibly damaging	Het
Cenpo	T	A	12: 4,281,968 (GRCm39)	S10C	possibly damaging	Het
Chid1	A	G	7: 141,076,049 (GRCm39)	V368A	probably benign	Het
Clca3a1	C	A	3: 144,714,716 (GRCm39)	V634L	probably benign	Het
Cmtr1	A	G	17: 29,901,122 (GRCm39)	D683G	probably damaging	Het
Cpsf3	G	T	12: 21,350,163 (GRCm39)	R294L	probably damaging	Het
Ddrgk1	G	A	2: 130,496,599 (GRCm39)	T255M	possibly damaging	Het
Dennd6a	T	A	14: 26,337,813 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,820,743 (GRCm39)	R526G	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Efcab10	T	C	12: 33,448,433 (GRCm39)	Y89H	probably damaging	Het
Etl4	T	A	2: 20,806,379 (GRCm39)	D1200E	probably damaging	Het
Fbn1	T	A	2: 125,166,865 (GRCm39)	D2017V	probably damaging	Het
Ftmt	G	A	18: 52,465,307 (GRCm39)	V208M	probably damaging	Het
Fzd10	T	C	5: 128,679,995 (GRCm39)	Y572H	probably damaging	Het
Gcc1	T	C	6: 28,420,742 (GRCm39)	K39E	probably damaging	Het
Hydin	A	G	8: 111,118,743 (GRCm39)		probably null	Het
Lif	A	G	11: 4,218,940 (GRCm39)	E73G	possibly damaging	Het
Lrtm1	C	A	14: 28,749,628 (GRCm39)	Q357K	probably benign	Het
Mef2d	T	A	3: 88,066,852 (GRCm39)	L205Q	probably damaging	Het
Naalad2	T	A	9: 18,296,361 (GRCm39)	E96D	probably damaging	Het
Nbas	T	C	12: 13,532,596 (GRCm39)	I1768T	probably benign	Het
Nodal	T	C	10: 61,259,258 (GRCm39)	S232P	probably damaging	Het
Or52ab7	A	T	7: 102,978,115 (GRCm39)	I141F	possibly damaging	Het
Or8b12c	A	G	9: 37,715,317 (GRCm39)	T37A	probably benign	Het
Pcdha9	G	A	18: 37,132,028 (GRCm39)	V366I	probably benign	Het
Pdzd8	A	G	19: 59,288,994 (GRCm39)	V802A	probably benign	Het
Plcl2	T	C	17: 50,913,873 (GRCm39)	V294A	probably damaging	Het
Plxna2	T	A	1: 194,472,504 (GRCm39)	S1083T	probably benign	Het
Polr2a	G	T	11: 69,638,047 (GRCm39)	L141I	possibly damaging	Het
Ptpre	C	A	7: 135,272,909 (GRCm39)	R468S	probably damaging	Het
Raet1e	T	A	10: 22,056,770 (GRCm39)	N115K	probably benign	Het
Rfx8	C	A	1: 39,709,554 (GRCm39)	S491I	probably damaging	Het
Rpe	T	A	1: 66,740,807 (GRCm39)	L48*	probably null	Het
Skint5	A	T	4: 113,800,064 (GRCm39)		probably null	Het
Spata24	C	A	18: 35,793,389 (GRCm39)	S111I	possibly damaging	Het
Suz12	G	C	11: 79,893,006 (GRCm39)		probably benign	Het
Taf4	T	A	2: 179,573,832 (GRCm39)	I679F	probably damaging	Het
Tlr1	G	T	5: 65,084,472 (GRCm39)	P35Q	possibly damaging	Het
Tonsl	T	C	15: 76,520,418 (GRCm39)		probably null	Het
Tsen54	G	A	11: 115,711,513 (GRCm39)	R310H	probably benign	Het
Ttc7b	A	G	12: 100,461,681 (GRCm39)	S99P	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uhmk1	T	A	1: 170,027,563 (GRCm39)	N378I	probably damaging	Het
Vmn2r107	A	G	17: 20,565,849 (GRCm39)	T55A	probably benign	Het
Vmn2r74	C	T	7: 85,601,280 (GRCm39)	C786Y	probably damaging	Het
Wdr20rt	C	T	12: 65,272,964 (GRCm39)		probably benign	Het
Zfand2a	T	A	5: 139,467,746 (GRCm39)	H42L	probably damaging	Het
Zfp990	T	A	4: 145,264,483 (GRCm39)	C494S	probably damaging	Het
Zkscan4	A	T	13: 21,668,757 (GRCm39)	R403W	possibly damaging	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
R5567:Parl	UTSW	16	20,101,762 (GRCm39)	missense	probably damaging	0.97
R5687:Parl	UTSW	16	20,106,728 (GRCm39)	intron	probably benign
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'- ACTACTAGGAAAGACCGCGG -3'
(R):5'- CCGGAAGTGATTTCTAGGCC -3'

Sequencing Primer
(F):5'- GCACCCAGAAGCCAGTAGG -3'
(R):5'- TCTAGGCCGGGGTTAGAGAG -3'

Posted On

2018-02-28