Mutagenetix > Incidental Mutation

Incidental Mutation 'RF032:Reep1'

604409

Institutional Source

Beutler Lab

Gene Symbol

Reep1

Ensembl Gene

ENSMUSG00000052852

Gene Name

receptor accessory protein 1

Synonyms

D6Ertd253e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF032 (G1)

Quality Score

193.468

Status

Not validated

Chromosome

Chromosomal Location

71707561-71810710 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

CC to CCCGAC at 71707968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121469] [ENSMUST00000212631] [ENSMUST00000212792]

AlphaFold

Q8BGH4

Predicted Effect

probably null
Transcript: ENSMUST00000121469

SMART Domains

Protein: ENSMUSP00000112662
Gene: ENSMUSG00000052852

Domain	Start	End	E-Value	Type
Pfam:TB2_DP1_HVA22	7	95	1.1e-35	PFAM
low complexity region	128	137	N/A	INTRINSIC
low complexity region	160	180	N/A	INTRINSIC
low complexity region	188	199	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000212631

Predicted Effect

probably null
Transcript: ENSMUST00000212792

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spastic paraplegia in aged mice with reduced ER complexity in cortical motor neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	TACCT	TACCTGACCT	17: 24,287,727 (GRCm38)		probably null	Het
Acap3	CTGCTG	CTGCTGCATCCTGGGATGCTG	4: 155,905,102 (GRCm38)		probably benign	Het
Arid1b	GCG	GCGTCG	17: 4,995,588 (GRCm38)		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCGTCC	7: 80,512,930 (GRCm38)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,620,063 (GRCm38)		probably null	Het
Calhm1	C	CTGTGGCCGTGG	19: 47,141,283 (GRCm38)		probably null	Het
Cluh	CCCGAGCC	CCCGAGCCCGAGCC	11: 74,669,515 (GRCm38)		probably benign	Het
Cyb5r4	ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,413 (GRCm38)		probably benign	Het
Dmkn	GT	GTTGTGAAAGTGGTGGAAGTGGTGGAATT	7: 30,767,182 (GRCm38)		probably benign	Het
Efhd2	CGCC	CGCCGCAGCC	4: 141,874,772 (GRCm38)		probably benign	Het
Enah	TGGCGGTGG	TG	1: 181,921,929 (GRCm38)		probably null	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,778 (GRCm38)		probably benign	Het
H2-T10	TTTCCCACTGTA	T	17: 36,120,294 (GRCm38)		probably null	Het
Ifi207	GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC	GCCTGAGCTGTGGAAGTCTC	1: 173,735,157 (GRCm38)		probably benign	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 68,226,179 (GRCm38)		probably benign	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,042,258 (GRCm38)		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,640,489 (GRCm38)		probably null	Het
Med12l	CAG	CAGAAG	3: 59,275,981 (GRCm38)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,985 (GRCm38)		probably benign	Het
Med12l	GCA	GCACCA	3: 59,275,989 (GRCm38)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,711 (GRCm38)		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936 (GRCm38)		probably null	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,627,587 (GRCm38)		probably benign	Het
Olfr418	GTGACATC	G	1: 173,270,709 (GRCm38)		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972 (GRCm38)		probably benign	Het
Pik3c2g	G	GGAGA	6: 139,635,658 (GRCm38)		probably null	Het
Pou3f1	GGCGGCCG	GGCGGCCGCGGCCG	4: 124,657,805 (GRCm38)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939 (GRCm38)		probably benign	Het
Slc12a1	ACAAACC	ACAAACCTTTGGCCACCAAACC	2: 125,154,210 (GRCm38)		probably benign	Het
Smpx	CCCCCCA	C	X: 157,720,923 (GRCm38)		probably benign	Het
Spaca1	TCGC	TCGCTCACGC	4: 34,049,854 (GRCm38)		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,666 (GRCm38)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063 (GRCm38)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,616,074 (GRCm38)		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	15: 78,967,036 (GRCm38)		probably benign	Het
Vat1l	C	T	8: 114,289,329 (GRCm38)	L320F	probably damaging	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092 (GRCm38)		probably benign	Het

Other mutations in Reep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Reep1	APN	6	71,773,288 (GRCm38)	missense	probably damaging	1.00
IGL03057:Reep1	APN	6	71,807,781 (GRCm38)	splice site	probably benign
R1596:Reep1	UTSW	6	71,756,437 (GRCm38)	critical splice donor site	probably null
R1899:Reep1	UTSW	6	71,780,797 (GRCm38)	missense	probably benign	0.32
R2201:Reep1	UTSW	6	71,773,294 (GRCm38)	missense	probably damaging	1.00
R2252:Reep1	UTSW	6	71,756,442 (GRCm38)	splice site	probably null
R3787:Reep1	UTSW	6	71,795,215 (GRCm38)	missense	probably damaging	0.98
R4760:Reep1	UTSW	6	71,708,001 (GRCm38)	missense	possibly damaging	0.67
R5657:Reep1	UTSW	6	71,761,374 (GRCm38)	missense	possibly damaging	0.89
R6619:Reep1	UTSW	6	71,807,842 (GRCm38)	utr 3 prime	probably benign
R6659:Reep1	UTSW	6	71,773,195 (GRCm38)	missense	probably damaging	1.00
R7080:Reep1	UTSW	6	71,780,765 (GRCm38)	missense	possibly damaging	0.81
R7299:Reep1	UTSW	6	71,761,389 (GRCm38)	missense	probably benign	0.02
R7730:Reep1	UTSW	6	71,780,741 (GRCm38)	missense	possibly damaging	0.64
R9333:Reep1	UTSW	6	71,795,214 (GRCm38)	missense	probably damaging	0.99
R9486:Reep1	UTSW	6	71,707,985 (GRCm38)	missense	probably benign	0.00
RF019:Reep1	UTSW	6	71,707,969 (GRCm38)	start codon destroyed	probably null
RF023:Reep1	UTSW	6	71,707,968 (GRCm38)	start codon destroyed	probably null
RF029:Reep1	UTSW	6	71,707,966 (GRCm38)	start codon destroyed	probably null
RF042:Reep1	UTSW	6	71,707,966 (GRCm38)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- ACCACACGGTTTCACAAGG -3'
(R):5'- GCTAAATTTAGCGACCGCC -3'

Sequencing Primer
(F):5'- CACGGTTTCACAAGGAGGGC -3'
(R):5'- CCGGGTATTAATAGCTAGCGACC -3'

Posted On

2019-12-04