Mutagenetix > Incidental Mutation

Incidental Mutation 'R5687:Parl'

443460

Institutional Source

Beutler Lab

Gene Symbol

Parl

Ensembl Gene

ENSMUSG00000033918

Gene Name

presenilin associated, rhomboid-like

Synonyms

D16Ertd607e, PSENIP2, PRO2207, Psarl, PSARL1

MMRRC Submission

043320-MU

Accession Numbers

Essential gene?

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

Stock #

R5687 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

20098570-20121090 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 20106728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156379 (fasta)

Gene Model

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

AlphaFold

Q5XJY4

Predicted Effect

probably benign
Transcript: ENSMUST00000048642

SMART Domains

Protein: ENSMUSP00000045361
Gene: ENSMUSG00000033918

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

noncoding transcript
Transcript: ENSMUST00000143648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155832

Predicted Effect

probably benign
Transcript: ENSMUST00000231547

Predicted Effect

probably benign
Transcript: ENSMUST00000152887

Predicted Effect

probably benign
Transcript: ENSMUST00000232036

Predicted Effect

probably benign
Transcript: ENSMUST00000232484

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (72/73)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,223,852 (GRCm39)	D1292V	probably benign	Het
Adcy2	A	T	13: 68,768,938 (GRCm39)	C1063*	probably null	Het
Adcy2	A	T	13: 68,790,688 (GRCm39)	V892D	probably damaging	Het
Agtpbp1	T	C	13: 59,648,329 (GRCm39)	D497G	probably benign	Het
Anks1b	A	C	10: 90,750,573 (GRCm39)	I195L	probably benign	Het
Asmt	G	T	X: 169,111,749 (GRCm39)	S377I	unknown	Het
C1s1	T	A	6: 124,517,909 (GRCm39)	T24S	probably benign	Het
Ccdc85a	A	T	11: 28,342,854 (GRCm39)		probably benign	Het
Ccndbp1	T	C	2: 120,845,183 (GRCm39)		probably benign	Het
Cct8	T	C	16: 87,285,709 (GRCm39)	I250V	probably benign	Het
Cmya5	T	C	13: 93,234,684 (GRCm39)	T135A	possibly damaging	Het
Col11a1	T	C	3: 114,010,752 (GRCm39)		probably benign	Het
Crybg3	A	G	16: 59,379,529 (GRCm39)	M575T	probably benign	Het
Dmp1	C	T	5: 104,354,952 (GRCm39)		probably benign	Het
Emc1	G	T	4: 139,102,691 (GRCm39)	R950L	probably damaging	Het
Enpep	T	C	3: 129,092,743 (GRCm39)		probably null	Het
Eya1	G	A	1: 14,253,476 (GRCm39)	T500I	probably damaging	Het
Fam169a	T	C	13: 97,230,126 (GRCm39)	F54L	probably damaging	Het
Fbxo8	A	G	8: 57,044,552 (GRCm39)	K285R	probably damaging	Het
Galnt1	A	T	18: 24,405,807 (GRCm39)	E416D	probably benign	Het
Gcc1	T	A	6: 28,419,232 (GRCm39)		probably null	Het
Gm10800	T	A	2: 98,496,965 (GRCm39)	Y196F	probably benign	Het
Gmpr	T	A	13: 45,692,496 (GRCm39)		probably null	Het
Jrkl	C	T	9: 13,244,387 (GRCm39)	E425K	probably benign	Het
Kl	T	G	5: 150,911,931 (GRCm39)	I560S	possibly damaging	Het
Kyat3	C	A	3: 142,440,343 (GRCm39)	R356S	probably null	Het
Lrig2	C	T	3: 104,371,388 (GRCm39)		probably null	Het
Lrrc47	A	G	4: 154,100,140 (GRCm39)	T239A	probably benign	Het
Map4k2	T	C	19: 6,395,672 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,844,144 (GRCm39)	S1469P	probably damaging	Het
Mthfd1l	G	A	10: 3,940,002 (GRCm39)		probably null	Het
Mvk	G	T	5: 114,588,826 (GRCm39)	G144V	probably damaging	Het
Nasp	T	A	4: 116,463,002 (GRCm39)		probably benign	Het
Ndst4	A	C	3: 125,232,258 (GRCm39)	N276H	possibly damaging	Het
Nsmf	C	T	2: 24,946,079 (GRCm39)	P189S	probably damaging	Het
Nt5m	T	G	11: 59,743,649 (GRCm39)	D92E	probably benign	Het
Or10g6	T	G	9: 39,933,731 (GRCm39)	L14R	probably damaging	Het
Or4k39	T	C	2: 111,239,033 (GRCm39)		noncoding transcript	Het
Or4p23	A	T	2: 88,577,094 (GRCm39)	I46N	probably damaging	Het
Pan3	T	A	5: 147,391,982 (GRCm39)	I119N	probably damaging	Het
Pard6b	A	T	2: 167,940,546 (GRCm39)	S178C	probably damaging	Het
Pdk2	A	G	11: 94,919,851 (GRCm39)		probably benign	Het
Prag1	A	G	8: 36,613,967 (GRCm39)	E1173G	probably benign	Het
Prph2	T	A	17: 47,234,391 (GRCm39)	L320Q	probably damaging	Het
Psmd3	T	C	11: 98,584,495 (GRCm39)	I200T	probably damaging	Het
Rhbdd3	T	A	11: 5,055,707 (GRCm39)	S324T	probably damaging	Het
Rps6-ps2	A	T	8: 89,533,112 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Samd4	A	G	14: 47,254,022 (GRCm39)	N61S	probably benign	Het
Sfrp2	G	A	3: 83,674,146 (GRCm39)	A100T	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc6a13	A	G	6: 121,279,700 (GRCm39)	T25A	probably benign	Het
Sntg1	C	A	1: 8,533,667 (GRCm39)	R329L	possibly damaging	Het
Sorbs2	T	C	8: 46,228,669 (GRCm39)	F285L	probably damaging	Het
Speg	T	C	1: 75,395,773 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,661,541 (GRCm39)	Y533C	probably damaging	Het
Supt5	C	A	7: 28,017,188 (GRCm39)	S668I	probably benign	Het
Taf6l	T	G	19: 8,750,676 (GRCm39)	I133L	probably benign	Het
Thrap3	G	A	4: 126,074,279 (GRCm39)		probably benign	Het
Tmem115	A	G	9: 107,412,054 (GRCm39)	N126S	probably benign	Het
Trgc1	A	T	13: 19,400,729 (GRCm39)	I153F	unknown	Het
Tspoap1	T	A	11: 87,667,952 (GRCm39)	I1192N	probably damaging	Het
Vcan	T	C	13: 89,826,253 (GRCm39)	I3184V	probably damaging	Het
Yeats4	G	A	10: 117,051,585 (GRCm39)	T224M	probably benign	Het
Zc3h13	A	T	14: 75,569,400 (GRCm39)	R1416*	probably null	Het
Zmynd12	T	A	4: 119,299,098 (GRCm39)	Y193N	probably 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
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'- CACCGTGTACACTGCTCATAATTAC -3'
(R):5'- AGAGTGTTTGCAACTGTCCAC -3'

Sequencing Primer
(F):5'- TGTAGCACTCTAACTAATGCAAAGC -3'
(R):5'- GAGTGTTTGCAACTGTCCACACATC -3'

Posted On

2016-11-09