Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00688:Reep5'

13795

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Reep5

Ensembl Gene

ENSMUSG00000005873

Gene Name

receptor accessory protein 5

Synonyms

TB2/DP1, DP1/TB2, Dp1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00688

Quality Score

Status

Chromosome

Chromosomal Location

34477938-34507123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34482746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 154 (S154R)

Ref Sequence

ENSEMBL: ENSMUSP00000006027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006027]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006027
AA Change: S154R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006027
Gene: ENSMUSG00000005873
AA Change: S154R

Domain	Start	End	E-Value	Type
Pfam:TB2_DP1_HVA22	55	144	1.6e-35	PFAM
low complexity region	152	169	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap insertion exhibit no detectable mutant phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,443 (GRCm39)	L216F	probably benign	Het
Atg13	A	T	2: 91,516,842 (GRCm39)		probably benign	Het
Fgf7	A	G	2: 125,931,365 (GRCm39)	T157A	probably damaging	Het
Irak4	A	G	15: 94,464,744 (GRCm39)	H438R	possibly damaging	Het
Kansl1	T	C	11: 104,315,892 (GRCm39)	T49A	probably damaging	Het
Kcnh5	T	C	12: 74,945,171 (GRCm39)	K693E	probably benign	Het
Nfrkb	T	A	9: 31,300,345 (GRCm39)	D45E	probably damaging	Het
Pramel28	G	T	4: 143,692,392 (GRCm39)	P203Q	possibly damaging	Het
Prlr	T	C	15: 10,322,467 (GRCm39)		probably benign	Het
Prpf40b	A	G	15: 99,214,012 (GRCm39)	K789E	probably benign	Het
Setx	T	A	2: 29,038,457 (GRCm39)	S1647R	possibly damaging	Het
Sptbn2	A	G	19: 4,775,966 (GRCm39)	E174G	probably damaging	Het
Taf1	A	G	X: 100,606,545 (GRCm39)	E1248G	probably damaging	Het
Tanc1	T	G	2: 59,645,735 (GRCm39)	L929R	probably damaging	Het
Tanc2	A	G	11: 105,689,516 (GRCm39)	Y226C	probably damaging	Het
Tmem69	T	C	4: 116,410,671 (GRCm39)	I100V	probably benign	Het

Other mutations in Reep5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02070:Reep5	APN	18	34,505,526 (GRCm39)	nonsense	probably null
IGL02221:Reep5	APN	18	34,482,850 (GRCm39)	missense	probably damaging	0.99
IGL02820:Reep5	APN	18	34,506,312 (GRCm39)	missense	probably benign	0.00
R1646:Reep5	UTSW	18	34,482,712 (GRCm39)	missense	probably benign	0.02
R3755:Reep5	UTSW	18	34,505,527 (GRCm39)	missense	probably damaging	1.00
R4978:Reep5	UTSW	18	34,506,349 (GRCm39)	missense	probably damaging	1.00
R5209:Reep5	UTSW	18	34,490,293 (GRCm39)	splice site	probably null
R6086:Reep5	UTSW	18	34,490,184 (GRCm39)	missense	probably damaging	1.00
R6141:Reep5	UTSW	18	34,505,511 (GRCm39)	nonsense	probably null
R7079:Reep5	UTSW	18	34,480,176 (GRCm39)	missense	probably damaging	0.98
R7635:Reep5	UTSW	18	34,482,853 (GRCm39)	missense	possibly damaging	0.83
R7857:Reep5	UTSW	18	34,505,521 (GRCm39)	missense	possibly damaging	0.90
R9310:Reep5	UTSW	18	34,490,222 (GRCm39)	missense	probably damaging	1.00
X0058:Reep5	UTSW	18	34,505,456 (GRCm39)	critical splice donor site	probably null

Posted On

2012-12-06