Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Rere'

236598

Institutional Source

Beutler Lab

Gene Symbol

Rere

Ensembl Gene

ENSMUSG00000039852

Gene Name

arginine glutamic acid dipeptide (RE) repeats

Synonyms

1110033A15Rik, eyes3, Atr2, eye, atrophin-2

MMRRC Submission

040147-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150281646-150621966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150616931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1256 (V1256A)

Ref Sequence

ENSEMBL: ENSMUSP00000101307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105680] [ENSMUST00000105682] [ENSMUST00000136646]

AlphaFold

Q80TZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105680
AA Change: V988A

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: V988A

Domain	Start	End	E-Value	Type
ELM2	18	70	1.67e-13	SMART
SANT	124	173	1.8e-6	SMART
low complexity region	176	193	N/A	INTRINSIC
ZnF_GATA	233	284	1.94e-15	SMART
Pfam:Atrophin-1	300	1290	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105682
AA Change: V1256A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: V1256A

Domain	Start	End	E-Value	Type
low complexity region	3	31	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	73	85	N/A	INTRINSIC
BAH	103	283	3.52e-13	SMART
ELM2	286	338	1.67e-13	SMART
SANT	392	441	1.8e-6	SMART
low complexity region	444	461	N/A	INTRINSIC
ZnF_GATA	501	552	1.94e-15	SMART
Pfam:Atrophin-1	568	1557	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136646

SMART Domains

Protein: ENSMUSP00000121544
Gene: ENSMUSG00000039852

Domain	Start	End	E-Value	Type
Pfam:Atrophin-1	1	199	2.2e-122	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137112

Predicted Effect

unknown
Transcript: ENSMUST00000219467
AA Change: V272A

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

Validation Efficiency

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 atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality with abnormalities in neural tube development, somite development, and in the embryonic heart. Mice homozygous for an ENU-induced allele exhibit narrow snouts, decreased body weight, renal agenesis and small eyes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,868,174	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,868,175	T69S	unknown	Het
Acsl6	A	T	11: 54,341,778	Q485L	probably damaging	Het
Adam5	C	A	8: 24,815,480	V81F	probably benign	Het
Armc4	C	T	18: 7,127,229	E995K	probably damaging	Het
Atp5s	A	G	12: 69,741,054	Q88R	probably damaging	Het
Bag2	A	G	1: 33,746,831	S137P	possibly damaging	Het
Birc6	A	T	17: 74,660,413	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,671,575	F999L	probably benign	Het
Cap2	A	T	13: 46,560,502		probably null	Het
Ccnk	T	A	12: 108,189,090	L102Q	probably null	Het
Cd52	T	C	4: 134,093,737		probably benign	Het
Cdc123	A	T	2: 5,810,806	I160K	probably benign	Het
Cep85l	T	C	10: 53,358,126	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,101,710	T298I	probably benign	Het
Cpsf4	G	T	5: 145,178,762	S192I	probably benign	Het
Cpxm1	A	G	2: 130,397,410	S33P	probably benign	Het
Cyp2a12	A	T	7: 27,034,769	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,456,084	F137S	probably damaging	Het
Des	A	G	1: 75,366,804	T444A	probably benign	Het
Dgcr8	C	T	16: 18,284,256	G54D	probably damaging	Het
Doxl2	A	G	6: 48,975,291	H50R	probably benign	Het
Dsc3	A	G	18: 19,980,686	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,463,375	M838K	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Eml5	A	C	12: 98,810,605	F1417C	probably damaging	Het
Ep400	A	T	5: 110,703,518	M1366K	unknown	Het
Epg5	G	T	18: 77,954,197	C425F	possibly damaging	Het
Epha3	C	G	16: 63,773,317	R136P	possibly damaging	Het
Extl1	C	A	4: 134,371,044	E225D	probably benign	Het
Fam186b	A	G	15: 99,280,657	Y263H	probably benign	Het
Fbn2	A	G	18: 58,052,993	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,627,534	M1251K	probably benign	Het
Gart	A	T	16: 91,630,081	I555N	probably damaging	Het
Gm11596	A	T	11: 99,792,963	C110*	probably null	Het
Gnptab	C	T	10: 88,428,506	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,518,231	V263A	probably benign	Het
Gxylt1	T	C	15: 93,254,480	I224V	probably benign	Het
H2-Aa	A	G	17: 34,283,827	S122P	probably damaging	Het
Hsph1	A	C	5: 149,630,337		probably null	Het
Hunk	G	A	16: 90,432,532	D94N	probably damaging	Het
Ikbke	C	A	1: 131,273,474	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,647,191		probably null	Het
Ints10	A	G	8: 68,796,805	T96A	probably damaging	Het
Kansl2	A	T	15: 98,526,631	V306E	probably benign	Het
Kif20a	A	G	18: 34,625,604	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,100,863	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,580,818	I50V	probably benign	Het
Ktn1	A	G	14: 47,714,652	E983G	probably damaging	Het
Lrrk1	G	A	7: 66,296,163	S566L	probably damaging	Het
M6pr	A	G	6: 122,315,367	M174V	probably benign	Het
Man2a2	A	G	7: 80,363,516	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,945,075	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,154,189		probably null	Het
Mrgpra9	T	C	7: 47,235,463	E152G	probably benign	Het
Mst1r	T	C	9: 107,913,168	V660A	probably benign	Het
Myof	A	G	19: 37,981,221		probably null	Het
Myrf	G	A	19: 10,228,674	P126L	probably benign	Het
Nckap1l	C	T	15: 103,475,676	A567V	probably damaging	Het
Nphs1	A	G	7: 30,460,970	E169G	probably benign	Het
Npy1r	T	A	8: 66,705,184	V382D	probably benign	Het
Nrl	A	T	14: 55,520,850	M140K	possibly damaging	Het
Olfr1305	A	G	2: 111,873,423	I144T	probably damaging	Het
Olfr199	C	T	16: 59,216,026	V196M	probably benign	Het
Olfr292	T	A	7: 86,695,280	F275I	probably damaging	Het
Olfr694	A	T	7: 106,688,957	M258K	probably damaging	Het
Olfr924	C	T	9: 38,848,339	T75I	probably damaging	Het
Orc5	T	A	5: 22,547,927	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 12,871,173	S396T	probably benign	Het
Pappa	T	A	4: 65,180,949	Y568*	probably null	Het
Pask	C	T	1: 93,321,297	A794T	probably benign	Het
Pclo	C	T	5: 14,858,752	L5025F	unknown	Het
Pde3a	T	C	6: 141,490,111	V924A	probably benign	Het
Pdpr	A	G	8: 111,118,036	N355S	probably damaging	Het
Pepd	A	T	7: 34,921,418	K36M	probably benign	Het
Pet100	T	G	8: 3,622,355	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,698,723	T438A	probably benign	Het
Pik3r6	T	A	11: 68,543,611	L546*	probably null	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,934,012	Y339C	probably damaging	Het
Primpol	A	T	8: 46,586,343	M414K	probably damaging	Het
Prol1	A	T	5: 88,328,395	T215S	unknown	Het
Prss22	A	G	17: 23,994,682	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,388,604	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,425,976	T245M	probably damaging	Het
Rbm26	T	A	14: 105,115,202	R1009*	probably null	Het
Rbm42	A	G	7: 30,641,110	*450Q	probably null	Het
Rmi1	G	T	13: 58,407,983	L15F	probably damaging	Het
Rnf213	T	C	11: 119,443,690	S3242P	probably damaging	Het
Rtel1	T	A	2: 181,323,706	V167E	probably damaging	Het
Scgb1b2	G	T	7: 31,291,763		probably benign	Het
Sin3b	T	C	8: 72,731,265	L203P	probably damaging	Het
Skint6	T	C	4: 113,236,260	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,809,378	Y566C	probably damaging	Het
Smgc	T	G	15: 91,844,421	D121E	possibly damaging	Het
Sned1	T	A	1: 93,271,684	F495L	probably damaging	Het
St7	A	T	6: 17,886,007	N52I	possibly damaging	Het
Sycn	C	A	7: 28,541,069	Q54K	probably benign	Het
Syngr4	A	G	7: 45,887,040	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,642,804	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,613,499	Y443H	probably damaging	Het
Tmem200c	A	T	17: 68,842,249	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,517,490	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,168,541	V23G	possibly damaging	Het
Trhr	T	C	15: 44,197,183	V33A	probably benign	Het
Trim66	A	T	7: 109,475,113	I647N	probably damaging	Het
Trnt1	A	G	6: 106,778,039	K244E	probably damaging	Het
Tsfm	G	A	10: 127,028,445	Q134*	probably null	Het
Ttll9	A	G	2: 153,003,007	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,954,482	L623F	probably damaging	Het
Wdr55	A	G	18: 36,762,366	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,896,214	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,948,988		probably benign	Het
Zfp260	A	G	7: 30,105,340	K222E	probably damaging	Het
Zfp300	A	G	X: 21,081,951	S525P	possibly damaging	Het
Zfp592	A	G	7: 81,038,202	T959A	probably benign	Het

Other mutations in Rere

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Rere	APN	4	150619463	missense	probably damaging	1.00
IGL01465:Rere	APN	4	150509994	missense	unknown
IGL01523:Rere	APN	4	150615555	missense	possibly damaging	0.93
IGL01688:Rere	APN	4	150618436	missense	probably damaging	1.00
IGL02057:Rere	APN	4	150614832	unclassified	probably benign
IGL02621:Rere	APN	4	150613812	unclassified	probably benign
IGL02672:Rere	APN	4	150510026	missense	unknown
R0116:Rere	UTSW	4	150616976	missense	probably benign	0.18
R0119:Rere	UTSW	4	150615322	unclassified	probably benign
R0344:Rere	UTSW	4	150610981	unclassified	probably benign
R0504:Rere	UTSW	4	150615322	unclassified	probably benign
R0630:Rere	UTSW	4	150619088	missense	probably damaging	1.00
R0961:Rere	UTSW	4	150615372	unclassified	probably benign
R1164:Rere	UTSW	4	150534884	missense	unknown
R1424:Rere	UTSW	4	150617038	missense	probably damaging	1.00
R1542:Rere	UTSW	4	150615942	missense	probably damaging	1.00
R1652:Rere	UTSW	4	150612065	unclassified	probably benign
R1953:Rere	UTSW	4	150616837	missense	probably damaging	1.00
R1959:Rere	UTSW	4	150468790	missense	probably benign	0.23
R1966:Rere	UTSW	4	150616873	missense	probably damaging	1.00
R1975:Rere	UTSW	4	150615733	missense	probably damaging	0.99
R2070:Rere	UTSW	4	150614590	unclassified	probably benign
R2115:Rere	UTSW	4	150612561	unclassified	probably benign
R2270:Rere	UTSW	4	150477380	missense	unknown
R2969:Rere	UTSW	4	150570216	missense	unknown
R3699:Rere	UTSW	4	150477362	critical splice acceptor site	probably null
R3723:Rere	UTSW	4	150468795	missense	probably damaging	1.00
R3826:Rere	UTSW	4	150470328	missense	probably benign	0.42
R4234:Rere	UTSW	4	150617405	missense	probably damaging	1.00
R4512:Rere	UTSW	4	150477452	missense	unknown
R4798:Rere	UTSW	4	150615167	unclassified	probably benign
R4883:Rere	UTSW	4	150616053	missense	probably damaging	0.98
R4914:Rere	UTSW	4	150619144	missense	probably damaging	1.00
R4916:Rere	UTSW	4	150619144	missense	probably damaging	1.00
R4917:Rere	UTSW	4	150619144	missense	probably damaging	1.00
R4918:Rere	UTSW	4	150619144	missense	probably damaging	1.00
R4966:Rere	UTSW	4	150613816	unclassified	probably benign
R5172:Rere	UTSW	4	150570269	missense	unknown
R5643:Rere	UTSW	4	150617243	missense	probably damaging	1.00
R6058:Rere	UTSW	4	150468798	missense	probably damaging	1.00
R7112:Rere	UTSW	4	150406604	missense	probably benign
R7173:Rere	UTSW	4	150468738	missense	probably damaging	1.00
R7190:Rere	UTSW	4	150610953	missense	unknown
R7699:Rere	UTSW	4	150617098	missense
R7990:Rere	UTSW	4	150614870	missense	unknown
R8070:Rere	UTSW	4	150617375	missense	probably damaging	1.00
R8101:Rere	UTSW	4	150617339	missense	probably damaging	1.00
R8103:Rere	UTSW	4	150617339	missense	probably damaging	1.00
R8215:Rere	UTSW	4	150616967	missense	possibly damaging	0.95
R8254:Rere	UTSW	4	150612672	missense	unknown
R8348:Rere	UTSW	4	150619196	missense	probably damaging	1.00
R8448:Rere	UTSW	4	150619196	missense	probably damaging	1.00
R8725:Rere	UTSW	4	150617335	nonsense	probably null
R8790:Rere	UTSW	4	150508875	missense	unknown
R8921:Rere	UTSW	4	150612014	missense	unknown
R8937:Rere	UTSW	4	150614874	unclassified	probably benign
R9345:Rere	UTSW	4	150470313	missense	probably damaging	0.99
R9377:Rere	UTSW	4	150508885	missense	unknown
R9490:Rere	UTSW	4	150431583	missense	probably benign	0.16
R9523:Rere	UTSW	4	150619179	missense	probably damaging	0.98
R9653:Rere	UTSW	4	150431553	missense	probably benign	0.28
R9657:Rere	UTSW	4	150614933	missense	unknown
Z1176:Rere	UTSW	4	150468783	missense	probably damaging	1.00
Z1177:Rere	UTSW	4	150615811	missense

Predicted Primers

PCR Primer
(F):5'- TCCAGCTCTGCACATGAAG -3'
(R):5'- AAATGCTCCATGGGGTTGG -3'

Sequencing Primer
(F):5'- CACATGAAGGCCGTCTTAGTGAC -3'
(R):5'- GCTTCACCTCAAAGCCTGG -3'

Posted On

2014-10-01