Mutagenetix > Incidental Mutation

Incidental Mutation 'R0279:Hey2'

24561

Institutional Source

Beutler Lab

Gene Symbol

Hey2

Ensembl Gene

ENSMUSG00000019789

Gene Name

hairy/enhancer-of-split related with YRPW motif 2

Synonyms

Herp1, bHLHb32, CHF1, Hesr2, Hrt2

MMRRC Submission

038501-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R0279 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30708355-30718779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30710006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 249 (C249F)

Ref Sequence

ENSEMBL: ENSMUSP00000019924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019924]

AlphaFold

Q9QUS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000019924
AA Change: C249F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019924
Gene: ENSMUSG00000019789
AA Change: C249F

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
HLH	54	109	6.71e-16	SMART
ORANGE	119	166	5.55e-18	SMART
low complexity region	174	193	N/A	INTRINSIC
low complexity region	253	277	N/A	INTRINSIC
low complexity region	293	317	N/A	INTRINSIC

Meta Mutation Damage Score

0.0695

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.6%

Validation Efficiency

99% (82/83)

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 hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac hypertrophy, ventricular septal defects, pulmonary and liver congestion, and reduced preweaning viability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610528J11Rik	A	T	4: 118,386,490 (GRCm39)	M1L	probably benign	Het
5730596B20Rik	T	A	6: 52,156,182 (GRCm39)		probably benign	Het
Acrbp	T	C	6: 125,030,917 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acss3	A	G	10: 106,920,732 (GRCm39)	I126T	possibly damaging	Het
Aff3	T	C	1: 38,574,650 (GRCm39)	E110G	probably damaging	Het
Aldh1a3	T	C	7: 66,059,000 (GRCm39)	I113V	probably benign	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Atp2b4	A	G	1: 133,657,440 (GRCm39)		probably benign	Het
Atp8a1	C	T	5: 67,970,435 (GRCm39)		probably null	Het
Bhmt	A	G	13: 93,761,972 (GRCm39)	C104R	probably damaging	Het
Cct5	T	G	15: 31,591,177 (GRCm39)	E508A	probably damaging	Het
Celsr1	T	A	15: 85,787,065 (GRCm39)	E2761D	probably benign	Het
Clstn1	T	C	4: 149,728,131 (GRCm39)	S600P	probably damaging	Het
Cnppd1	A	G	1: 75,113,573 (GRCm39)	S232P	probably damaging	Het
Crybb3	T	C	5: 113,227,619 (GRCm39)		probably null	Het
Csmd1	A	G	8: 16,273,249 (GRCm39)	I861T	probably damaging	Het
Cyp2d10	A	C	15: 82,289,540 (GRCm39)	S191A	possibly damaging	Het
Ddx10	T	C	9: 53,146,604 (GRCm39)	D206G	probably damaging	Het
Dnah1	G	T	14: 31,024,332 (GRCm39)	H916N	possibly damaging	Het
Dnah9	A	G	11: 65,802,615 (GRCm39)		probably null	Het
Epb42	G	A	2: 120,859,525 (GRCm39)		probably benign	Het
Etnppl	A	G	3: 130,423,062 (GRCm39)	R248G	probably damaging	Het
Eya3	T	C	4: 132,446,558 (GRCm39)	F369L	probably damaging	Het
Fam170b	T	C	14: 32,556,025 (GRCm39)		probably benign	Het
Fli1	A	T	9: 32,372,723 (GRCm39)	V105D	probably damaging	Het
Fmo1	T	C	1: 162,657,841 (GRCm39)	I433M	possibly damaging	Het
Fndc3b	C	A	3: 27,511,155 (GRCm39)	C785F	probably benign	Het
Foxe3	T	C	4: 114,782,765 (GRCm39)	D149G	probably damaging	Het
Gk5	T	C	9: 96,056,857 (GRCm39)		probably benign	Het
Gm14226	A	G	2: 154,867,372 (GRCm39)	D443G	possibly damaging	Het
Gm9796	C	T	11: 95,588,821 (GRCm39)		noncoding transcript	Het
Golga4	A	T	9: 118,398,061 (GRCm39)	R52S	probably benign	Het
Ipo9	A	T	1: 135,348,101 (GRCm39)		probably benign	Het
Ireb2	C	A	9: 54,793,877 (GRCm39)	T269K	probably benign	Het
Kansl3	A	G	1: 36,391,050 (GRCm39)	V274A	probably damaging	Het
Kcnk2	C	T	1: 188,942,169 (GRCm39)	A352T	possibly damaging	Het
Lamc2	T	C	1: 153,006,442 (GRCm39)	E903G	probably benign	Het
Lepr	A	G	4: 101,607,541 (GRCm39)	K253R	probably benign	Het
Lmntd2	T	C	7: 140,793,536 (GRCm39)		probably benign	Het
Lrrc39	A	T	3: 116,371,952 (GRCm39)	T240S	probably benign	Het
Lrrc43	A	G	5: 123,635,085 (GRCm39)		probably null	Het
Maf	T	C	8: 116,432,495 (GRCm39)	M370V	possibly damaging	Het
Mib2	G	A	4: 155,745,673 (GRCm39)	S46L	possibly damaging	Het
Mms22l	C	T	4: 24,497,867 (GRCm39)	T63I	probably damaging	Het
Morc2a	T	A	11: 3,633,989 (GRCm39)	S700R	probably benign	Het
Mpz	A	G	1: 170,987,498 (GRCm39)		probably benign	Het
Ncam2	T	C	16: 81,420,225 (GRCm39)		probably benign	Het
Niban1	T	C	1: 151,584,957 (GRCm39)		probably null	Het
Nudt14	C	T	12: 112,902,037 (GRCm39)	A123T	probably damaging	Het
Odad3	A	G	9: 21,901,543 (GRCm39)		probably benign	Het
Or10h1	C	T	17: 33,418,298 (GRCm39)	T92I	probably benign	Het
Or2a7	G	A	6: 43,151,692 (GRCm39)	M257I	probably benign	Het
Or9g20	A	T	2: 85,629,879 (GRCm39)	I245N	possibly damaging	Het
Otoa	T	C	7: 120,710,302 (GRCm39)		probably benign	Het
Pik3cg	G	A	12: 32,254,790 (GRCm39)	T399I	probably damaging	Het
Pkn3	C	T	2: 29,973,309 (GRCm39)	A377V	probably benign	Het
Ppan	A	G	9: 20,802,825 (GRCm39)	N327S	probably benign	Het
Prkca	T	C	11: 107,944,937 (GRCm39)		probably benign	Het
Prrc2c	A	T	1: 162,543,033 (GRCm39)	V320E	probably damaging	Het
Ptprq	A	G	10: 107,444,278 (GRCm39)	V1442A	probably damaging	Het
Rapgef1	C	T	2: 29,616,239 (GRCm39)	R834C	probably damaging	Het
Rbms1	G	T	2: 60,672,754 (GRCm39)	N44K	probably damaging	Het
Rfwd3	A	C	8: 112,009,365 (GRCm39)	F404V	probably benign	Het
Rimbp3	G	T	16: 17,027,317 (GRCm39)	R247L	probably benign	Het
Serpinb1b	T	C	13: 33,277,696 (GRCm39)	S310P	possibly damaging	Het
Smtn	C	A	11: 3,480,235 (GRCm39)	V329L	probably damaging	Het
Snapc2	T	C	8: 4,304,979 (GRCm39)		probably benign	Het
Spam1	A	T	6: 24,800,418 (GRCm39)	M386L	probably benign	Het
Syne2	A	G	12: 76,142,387 (GRCm39)	E6208G	probably damaging	Het
Teddm1a	T	C	1: 153,768,369 (GRCm39)	Y278H	probably damaging	Het
Tnfaip6	A	T	2: 51,945,928 (GRCm39)	N258I	possibly damaging	Het
Trpm4	C	T	7: 44,971,472 (GRCm39)	R188Q	probably damaging	Het
Ttbk2	A	T	2: 120,579,441 (GRCm39)	H491Q	probably benign	Het
Urgcp	C	T	11: 5,666,989 (GRCm39)	E450K	probably benign	Het
Vmn1r228	T	C	17: 20,996,637 (GRCm39)	N294D	probably benign	Het
Wdfy3	A	T	5: 102,015,958 (GRCm39)	C2606S	probably damaging	Het
Wdr33	T	A	18: 32,021,377 (GRCm39)	H642Q	unknown	Het
Zbtb46	A	G	2: 181,053,567 (GRCm39)	S382P	possibly damaging	Het
Zfp217	A	G	2: 169,961,700 (GRCm39)	I209T	probably benign	Het
Zranb3	T	A	1: 127,891,510 (GRCm39)	N822I	probably benign	Het

Other mutations in Hey2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01681:Hey2	APN	10	30,710,133 (GRCm39)	missense	probably benign	0.25
IGL02525:Hey2	APN	10	30,718,643 (GRCm39)	start codon destroyed	probably null	0.99
R0167:Hey2	UTSW	10	30,716,661 (GRCm39)	missense	probably benign	0.04
R0553:Hey2	UTSW	10	30,716,485 (GRCm39)	splice site	probably benign
R0592:Hey2	UTSW	10	30,709,953 (GRCm39)	missense	probably benign	0.44
R0621:Hey2	UTSW	10	30,710,382 (GRCm39)	missense	probably benign	0.36
R1437:Hey2	UTSW	10	30,709,845 (GRCm39)	missense	probably benign	0.00
R1457:Hey2	UTSW	10	30,710,352 (GRCm39)	missense	probably benign	0.45
R2449:Hey2	UTSW	10	30,716,442 (GRCm39)	missense	possibly damaging	0.94
R4721:Hey2	UTSW	10	30,710,304 (GRCm39)	missense	possibly damaging	0.65
R4755:Hey2	UTSW	10	30,710,300 (GRCm39)	missense	probably benign	0.00
R4828:Hey2	UTSW	10	30,710,179 (GRCm39)	missense	possibly damaging	0.95
R5419:Hey2	UTSW	10	30,710,019 (GRCm39)	missense	probably benign
R6927:Hey2	UTSW	10	30,710,413 (GRCm39)	missense	probably benign	0.16
R7079:Hey2	UTSW	10	30,710,382 (GRCm39)	missense	probably benign	0.36
R8196:Hey2	UTSW	10	30,710,273 (GRCm39)	missense	probably benign
R8238:Hey2	UTSW	10	30,716,659 (GRCm39)	missense	probably benign
R8381:Hey2	UTSW	10	30,709,986 (GRCm39)	missense	probably damaging	1.00
R8383:Hey2	UTSW	10	30,716,665 (GRCm39)	missense	probably benign	0.01
R8730:Hey2	UTSW	10	30,718,622 (GRCm39)	missense	possibly damaging	0.68
R9674:Hey2	UTSW	10	30,710,413 (GRCm39)	missense	probably benign	0.16
R9747:Hey2	UTSW	10	30,709,824 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAAGCTGATTCCGAAATGGACGAC -3'
(R):5'- GGATTCCGAGAGTGCTTGACAGAAG -3'

Sequencing Primer
(F):5'- GGACGACATCAGTTACTATTGC -3'
(R):5'- GCAGCAGTGATGACATCCTC -3'

Posted On

2013-04-16