Mutagenetix > Incidental Mutation

Incidental Mutation 'R7857:Reep5'

607311

Institutional Source

Beutler Lab

Gene Symbol

Reep5

Ensembl Gene

ENSMUSG00000005873

Gene Name

receptor accessory protein 5

Synonyms

TB2/DP1, DP1/TB2, Dp1

MMRRC Submission

045910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7857 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34477938-34507123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34505521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 50 (V50E)

Ref Sequence

ENSEMBL: ENSMUSP00000006027 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006027
AA Change: V50E

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006027
Gene: ENSMUSG00000005873
AA Change: V50E

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,454,104 (GRCm39)	N307I	probably benign	Het
Ahnak	G	A	19: 8,984,832 (GRCm39)	V2039M	probably damaging	Het
Arhgef40	T	A	14: 52,226,212 (GRCm39)	H85Q	probably damaging	Het
Ash1l	T	A	3: 88,891,616 (GRCm39)	L1165*	probably null	Het
Cck	A	G	9: 121,322,514 (GRCm39)	W100R	probably damaging	Het
Cdon	A	G	9: 35,367,908 (GRCm39)	R268G	possibly damaging	Het
Cldn12	T	C	5: 5,558,209 (GRCm39)	T73A	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Ctnnd2	A	T	15: 30,620,076 (GRCm39)	T143S	probably benign	Het
Cyp2b13	T	A	7: 25,788,153 (GRCm39)	L427Q	possibly damaging	Het
Dnah3	A	T	7: 119,550,927 (GRCm39)	Y152N	probably damaging	Het
Dsg1b	A	T	18: 20,529,520 (GRCm39)	M322L	probably benign	Het
Efhc1	T	C	1: 21,045,226 (GRCm39)	M414T	probably benign	Het
Elp3	G	A	14: 65,800,759 (GRCm39)	T302M	probably benign	Het
Entpd6	T	C	2: 150,607,473 (GRCm39)		probably null	Het
Epb41l4a	G	T	18: 34,139,098 (GRCm39)	C13*	probably null	Het
Ephb6	T	C	6: 41,590,331 (GRCm39)	S28P	probably benign	Het
Fbxo21	T	C	5: 118,126,878 (GRCm39)	S210P	probably benign	Het
Gapvd1	T	A	2: 34,619,079 (GRCm39)	E98V	probably benign	Het
Gcdh	A	G	8: 85,619,093 (GRCm39)	V157A	probably damaging	Het
Gm10638	G	T	8: 87,472,891 (GRCm39)	R188L	unknown	Het
Grk3	T	C	5: 113,109,427 (GRCm39)	T177A	unknown	Het
Gsc	T	G	12: 104,438,424 (GRCm39)	E148A	probably damaging	Het
Hacd4	C	T	4: 88,355,702 (GRCm39)	G61E	probably damaging	Het
Herc3	G	A	6: 58,820,637 (GRCm39)	W7*	probably null	Het
Il1rl2	T	C	1: 40,366,642 (GRCm39)	Y59H	probably benign	Het
Irag1	T	A	7: 110,522,742 (GRCm39)	K234*	probably null	Het
Kif1c	A	G	11: 70,619,103 (GRCm39)	T913A	probably benign	Het
Lipg	C	T	18: 75,078,891 (GRCm39)	G454R	probably damaging	Het
Lrrc74a	A	G	12: 86,788,485 (GRCm39)	D155G	probably benign	Het
Ltf	A	T	9: 110,851,444 (GRCm39)	I137F	probably benign	Het
Med19	T	A	2: 84,515,969 (GRCm39)	M166K	probably damaging	Het
Mei1	A	T	15: 81,976,918 (GRCm39)	Y167F	not run	Het
Ncaph	A	C	2: 126,946,165 (GRCm39)	D724E	probably damaging	Het
Neb	T	A	2: 52,112,996 (GRCm39)	D4266V	probably damaging	Het
Npffr1	G	T	10: 61,449,765 (GRCm39)	W13L	probably benign	Het
Or51b6	A	T	7: 103,555,817 (GRCm39)	H54L		Het
Pcdha12	A	T	18: 37,155,468 (GRCm39)	D729V	probably benign	Het
Pcdha7	A	T	18: 37,108,892 (GRCm39)	E639V	probably damaging	Het
Pcdhb18	A	T	18: 37,624,364 (GRCm39)	M565L	probably benign	Het
Plcd3	A	T	11: 102,968,760 (GRCm39)	D310E	probably benign	Het
Pmm2	C	G	16: 8,460,632 (GRCm39)	Q29E	probably benign	Het
Poli	T	G	18: 70,642,225 (GRCm39)	E658D	probably benign	Het
Prss22	G	A	17: 24,212,853 (GRCm39)	R295C	probably damaging	Het
Psg26	A	G	7: 18,212,215 (GRCm39)	I380T	possibly damaging	Het
Rfx7	A	G	9: 72,500,605 (GRCm39)	T122A	possibly damaging	Het
Robo1	A	G	16: 72,767,099 (GRCm39)	N424D	probably damaging	Het
Slc4a7	T	C	14: 14,772,624 (GRCm38)	V711A	probably benign	Het
Smc4	T	C	3: 68,940,552 (GRCm39)	V1162A	possibly damaging	Het
Snta1	A	T	2: 154,225,817 (GRCm39)	L189H	probably benign	Het
Tmem121	C	T	12: 113,152,696 (GRCm39)	R305C	possibly damaging	Het
Tmem68	A	G	4: 3,551,825 (GRCm39)	V271A	probably damaging	Het
Tmx4	T	G	2: 134,481,582 (GRCm39)	M114L	probably benign	Het
Trps1	T	A	15: 50,524,401 (GRCm39)	R1176S	probably damaging	Het
Usp21	A	G	1: 171,114,335 (GRCm39)	L63P	probably benign	Het
Vmn2r84	T	A	10: 130,226,738 (GRCm39)	M367L	probably benign	Het
Wbp2nl	A	G	15: 82,190,273 (GRCm39)	N67S	probably benign	Het
Wdr35	T	C	12: 9,058,113 (GRCm39)		probably null	Het
Zfp236	G	A	18: 82,686,726 (GRCm39)	Q271*	probably null	Het
Zfp831	T	C	2: 174,547,035 (GRCm39)	V1406A	probably benign	Het
Zfp934	G	A	13: 62,665,361 (GRCm39)	H459Y		Het

Other mutations in Reep5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00688:Reep5	APN	18	34,482,746 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTTCCCAAATGTGTAACCTTAG -3'
(R):5'- GACCGACCTCCTTGTAGTTG -3'

Sequencing Primer
(F):5'- TCCCAAATGTGTAACCTTAGGCAGTC -3'
(R):5'- GTTTCTCTGATGTATTCGAGGCAG -3'

Posted On

2019-12-20