Mutagenetix > Incidental Mutations

Incidental Mutation 'R0624:Reep2'

58848

Institutional Source

Beutler Lab

Gene Symbol

Reep2

Ensembl Gene

ENSMUSG00000038555

Gene Name

receptor accessory protein 2

Synonyms

MMRRC Submission

038813-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R0624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34840589-34847463 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34840771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 6 (I6F)

Ref Sequence

ENSEMBL: ENSMUSP00000036065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043484] [ENSMUST00000043775] [ENSMUST00000225195]

AlphaFold

Q8VCD6

Predicted Effect

probably benign
Transcript: ENSMUST00000043484
AA Change: I6F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036065
Gene: ENSMUSG00000038555
AA Change: I6F

Domain	Start	End	E-Value	Type
Pfam:TB2_DP1_HVA22	7	95	1.4e-36	PFAM
low complexity region	129	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043775

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
Blast:JmjC	149	944	N/A	BLAST
Blast:JmjC	946	1064	5e-40	BLAST
Blast:JmjC	1069	1471	N/A	BLAST
JmjC	1499	1722	2.43e-65	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223567

Predicted Effect

probably benign
Transcript: ENSMUST00000225195

Meta Mutation Damage Score

0.3870

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (88/90)

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 receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,268,457	E494K	probably damaging	Het
Abca9	T	A	11: 110,139,620	D767V	probably damaging	Het
Add1	T	A	5: 34,605,853	N128K	probably damaging	Het
Ado	A	T	10: 67,548,228	D182E	probably benign	Het
Anapc4	T	A	5: 52,845,419		probably benign	Het
Ano10	A	G	9: 122,259,595		probably benign	Het
Apba2	A	G	7: 64,714,515		probably null	Het
Apc2	A	G	10: 80,314,583	T1795A	probably benign	Het
Atp4a	A	G	7: 30,718,999	N571D	probably benign	Het
Birc6	A	G	17: 74,580,349	N891D	probably benign	Het
Car3	G	T	3: 14,866,804	M78I	probably benign	Het
Cc2d2a	A	T	5: 43,730,029	H1267L	probably benign	Het
Cdk18	A	G	1: 132,118,872	L192P	probably damaging	Het
Cdk9	A	T	2: 32,709,824	Y134N	probably damaging	Het
Ceacam5	A	T	7: 17,714,963	T85S	probably benign	Het
Cenpe	A	G	3: 135,246,586	T1403A	probably benign	Het
Chd8	C	T	14: 52,219,757	G918D	possibly damaging	Het
Csnk1e	T	A	15: 79,419,898		probably benign	Het
Dctpp1	A	T	7: 127,257,193	I119N	probably damaging	Het
Defb34	T	A	8: 19,123,768	F6Y	unknown	Het
Dvl1	C	G	4: 155,854,775	N248K	probably damaging	Het
Dync1h1	T	C	12: 110,651,747		probably benign	Het
Eml5	T	A	12: 98,865,479	R407W	probably damaging	Het
Epb41l5	T	C	1: 119,623,958	D99G	probably damaging	Het
Fat1	A	T	8: 45,051,168	N4566I	possibly damaging	Het
Gm21834	T	C	17: 57,742,020	E67G	possibly damaging	Het
Gsap	T	A	5: 21,253,951		probably null	Het
Guf1	T	C	5: 69,558,580	I108T	probably damaging	Het
Hsd3b5	T	C	3: 98,619,404	D242G	probably damaging	Het
Kcna7	A	G	7: 45,409,690	D467G	probably null	Het
Lars	A	G	18: 42,242,784		probably benign	Het
Lrrc56	A	T	7: 141,206,453	D248V	probably damaging	Het
Map3k14	T	A	11: 103,242,291	E27V	possibly damaging	Het
Med12l	G	A	3: 59,037,702	W116*	probably null	Het
Mgll	A	G	6: 88,725,817	R33G	probably damaging	Het
Mmp13	A	G	9: 7,280,221	S384G	possibly damaging	Het
Nalcn	C	T	14: 123,370,032	C675Y	probably benign	Het
Nrxn1	A	G	17: 91,088,689	L13P	unknown	Het
Ocstamp	A	G	2: 165,397,852	V138A	probably damaging	Het
Olfr1120	T	G	2: 87,357,682	Y79*	probably null	Het
Olfr1240	A	G	2: 89,440,138	V47A	possibly damaging	Het
Olfr1303	T	C	2: 111,814,711	N5S	probably damaging	Het
Olfr1505	T	G	19: 13,919,444	C141W	probably damaging	Het
Olfr372	T	A	8: 72,058,162	S161T	possibly damaging	Het
Olfr470	A	G	7: 107,845,116	S206P	possibly damaging	Het
Patj	T	C	4: 98,681,235		probably benign	Het
Pcdhb22	A	G	18: 37,518,727	I83V	probably benign	Het
Pclo	A	G	5: 14,669,656	E1269G	unknown	Het
Plagl2	T	C	2: 153,236,053	T3A	probably benign	Het
Plcb1	C	T	2: 135,294,911	P309S	possibly damaging	Het
Pld3	A	T	7: 27,539,575	L175Q	possibly damaging	Het
Prrx1	A	G	1: 163,248,405		probably benign	Het
Psap	T	G	10: 60,299,566		probably benign	Het
Ptgfr	G	A	3: 151,835,202	T223M	probably damaging	Het
Rraga	A	G	4: 86,576,217	E100G	probably benign	Het
Rrm2b	T	C	15: 37,931,645	D37G	probably benign	Het
Rtl1	T	C	12: 109,592,719	I895M	probably damaging	Het
Ryr1	G	A	7: 29,074,609	A2445V	probably damaging	Het
Sbf1	C	T	15: 89,302,329	D898N	possibly damaging	Het
Sh3d19	G	A	3: 86,114,906	V548I	possibly damaging	Het
Shf	C	A	2: 122,368,635		probably benign	Het
Sipa1l3	T	C	7: 29,387,251	E638G	probably damaging	Het
Slc13a3	G	T	2: 165,411,887	P449T	probably damaging	Het
Slc2a13	C	T	15: 91,350,012	V374I	possibly damaging	Het
Slc4a7	T	C	14: 14,794,059		probably null	Het
Slc7a2	T	A	8: 40,908,531	S414T	probably benign	Het
Slc9c1	A	G	16: 45,573,356	E554G	probably benign	Het
Smad2	T	C	18: 76,299,993	I332T	probably damaging	Het
Snrnp40	C	T	4: 130,362,658	P59S	probably damaging	Het
Sorcs2	A	T	5: 36,065,433	I154N	probably damaging	Het
Sort1	G	A	3: 108,348,630	G631S	probably damaging	Het
Sox10	T	C	15: 79,159,386	D149G	possibly damaging	Het
Spn	C	T	7: 127,136,208	V376M	possibly damaging	Het
Tacc2	A	G	7: 130,577,509	D9G	probably damaging	Het
Tapt1	T	G	5: 44,177,106	L514F	possibly damaging	Het
Tcf3	A	G	10: 80,413,334	L480P	probably damaging	Het
Tenm4	G	C	7: 96,774,020	G637A	probably damaging	Het
Tex14	T	A	11: 87,520,699	N950K	probably benign	Het
Tgfbrap1	T	G	1: 43,059,129	H497P	probably benign	Het
Tnfrsf18	A	T	4: 156,026,529	Y48F	possibly damaging	Het
Tnxb	A	C	17: 34,683,548	H1002P	probably damaging	Het
Ttn	A	G	2: 76,763,227		probably benign	Het
Ugt2b34	C	G	5: 86,893,732		probably null	Het
Vldlr	A	G	19: 27,238,263	D220G	possibly damaging	Het
Vmn1r33	A	T	6: 66,612,137	Y144*	probably null	Het
Wdr60	T	C	12: 116,248,290	D199G	probably damaging	Het
Wdr78	T	C	4: 103,072,857		probably benign	Het
Xrcc4	T	C	13: 89,992,475	E205G	possibly damaging	Het

Other mutations in Reep2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01716:Reep2	APN	18	34846249	missense	probably benign
IGL02244:Reep2	APN	18	34840754	unclassified	probably benign
R2005:Reep2	UTSW	18	34845621	missense	probably damaging	1.00
R2910:Reep2	UTSW	18	34845690	critical splice donor site	probably null
R2911:Reep2	UTSW	18	34845690	critical splice donor site	probably null
R5642:Reep2	UTSW	18	34846218	missense	probably benign
R6709:Reep2	UTSW	18	34846210	missense	probably benign	0.10
R7029:Reep2	UTSW	18	34845289	missense	probably null	0.22
R8327:Reep2	UTSW	18	34842513	missense	probably damaging	0.98
R8944:Reep2	UTSW	18	34842876	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CGAAGCTGCTGTCAAAGGATGGAAC -3'
(R):5'- AGGGAAAGGAGGGTCTTGTATGCTC -3'

Sequencing Primer
(F):5'- TCTGGGCACCGACTTGAAG -3'
(R):5'- ATAATATGGGCGAGGTCCCTG -3'

Posted On

2013-07-11