Mutagenetix > Incidental Mutation

Incidental Mutation 'R6927:Hey2'

541165

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

045044-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R6927 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30708355-30718779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30710413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 113 (D113E)

Ref Sequence

ENSEMBL: ENSMUSP00000019924 (fasta)

Gene Model

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

AlphaFold

Q9QUS4

Predicted Effect

probably benign
Transcript: ENSMUST00000019924
AA Change: D113E

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000019924
Gene: ENSMUSG00000019789
AA Change: D113E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.0%
20x: 96.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,635,317 (GRCm39)	W229R	probably damaging	Het
Adck2	T	C	6: 39,560,998 (GRCm39)		probably null	Het
Ahi1	A	T	10: 20,930,968 (GRCm39)	N936I	probably damaging	Het
Ass1	T	C	2: 31,404,813 (GRCm39)	S365P	probably damaging	Het
Atp9b	T	C	18: 80,935,072 (GRCm39)	K208E	possibly damaging	Het
Bag6	G	A	17: 35,364,898 (GRCm39)		probably null	Het
Bptf	A	T	11: 106,945,421 (GRCm39)	V2491E	probably damaging	Het
Cd300ld2	T	A	11: 114,904,619 (GRCm39)	R83W	probably damaging	Het
Chrnd	T	C	1: 87,126,434 (GRCm39)	F396L	probably damaging	Het
Cyp3a13	G	A	5: 137,893,546 (GRCm39)	P439S	probably damaging	Het
Dnhd1	C	A	7: 105,364,770 (GRCm39)	H4279N	probably damaging	Het
Fam118a	T	C	15: 84,929,038 (GRCm39)		probably null	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fasn	T	A	11: 120,699,115 (GRCm39)	D2386V	probably benign	Het
Fat1	G	A	8: 45,477,532 (GRCm39)	V2170I	probably benign	Het
Fdps	T	C	3: 89,000,958 (GRCm39)	R374G	probably benign	Het
Fhl5	T	C	4: 25,213,681 (GRCm39)	D85G	probably benign	Het
Flvcr1	T	C	1: 190,757,861 (GRCm39)	M144V	possibly damaging	Het
Gask1b	T	C	3: 79,848,769 (GRCm39)	I505T	probably damaging	Het
Gpr31b	A	G	17: 13,270,765 (GRCm39)	S135P	probably damaging	Het
Hoxc5	T	A	15: 102,923,807 (GRCm39)	I201N	probably damaging	Het
Ighv1-50	A	T	12: 115,083,794 (GRCm39)	W3R	probably damaging	Het
Impa1	A	G	3: 10,380,348 (GRCm39)	I208T	probably benign	Het
Iqcj	T	C	3: 67,954,624 (GRCm39)	L43P	possibly damaging	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Kdm4b	T	C	17: 56,706,435 (GRCm39)	C850R	probably damaging	Het
Krt25	A	T	11: 99,208,205 (GRCm39)	I341N	probably damaging	Het
L3mbtl3	T	A	10: 26,168,567 (GRCm39)	R621*	probably null	Het
Lipm	T	C	19: 34,078,563 (GRCm39)		probably benign	Het
Macrod2	A	T	2: 142,098,441 (GRCm39)	D286V	probably damaging	Het
Mad2l2	T	A	4: 148,225,411 (GRCm39)	V27E	possibly damaging	Het
Map4k4	T	A	1: 40,050,842 (GRCm39)	H768Q	probably benign	Het
Mgat4d	A	G	8: 84,081,496 (GRCm39)	N83S	probably benign	Het
Nucb1	C	T	7: 45,148,282 (GRCm39)	R141H	possibly damaging	Het
Or2t46	A	G	11: 58,472,491 (GRCm39)	K274E	possibly damaging	Het
Pcdhga2	A	C	18: 37,803,719 (GRCm39)	D521A	probably damaging	Het
Pcnx1	T	C	12: 81,964,586 (GRCm39)	V251A	probably benign	Het
Pdf	A	T	8: 107,774,833 (GRCm39)	M133K	probably damaging	Het
Piezo2	A	G	18: 63,166,057 (GRCm39)	F2058S	probably damaging	Het
Plekhb2	T	A	1: 34,915,982 (GRCm39)		probably null	Het
Ppp2r3d	G	C	9: 101,052,547 (GRCm39)	H221D	probably damaging	Het
Prl2c5	A	T	13: 13,357,503 (GRCm39)		probably null	Het
Puf60	T	A	15: 75,947,663 (GRCm39)	M49L	probably benign	Het
Rdh16f1	T	C	10: 127,624,561 (GRCm39)	V133A	probably benign	Het
Robo2	T	A	16: 73,778,946 (GRCm39)	D389V	probably damaging	Het
Slc22a23	G	T	13: 34,528,362 (GRCm39)	A140D	probably benign	Het
Slc25a42	A	G	8: 70,641,573 (GRCm39)	L136P	probably damaging	Het
Slc36a3	T	A	11: 55,020,519 (GRCm39)	M284L	probably damaging	Het
Tas2r115	T	A	6: 132,714,895 (GRCm39)	I19F	probably damaging	Het
Tmc2	A	G	2: 130,103,300 (GRCm39)	H812R	probably benign	Het
Vmn2r26	A	G	6: 124,016,057 (GRCm39)	S174G	possibly damaging	Het
Vstm4	T	A	14: 32,585,959 (GRCm39)		probably null	Het
Vwc2	C	A	11: 11,104,250 (GRCm39)	P261T	probably damaging	Het
Zfhx3	C	G	8: 109,683,453 (GRCm39)	H3631D	unknown	Het
Zfp335	A	G	2: 164,735,640 (GRCm39)	C1105R	probably damaging	Het
Zfp488	A	G	14: 33,692,755 (GRCm39)	L136P	probably benign	Het
Zzef1	G	A	11: 72,803,983 (GRCm39)	R2575H	probably damaging	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
R0279:Hey2	UTSW	10	30,710,006 (GRCm39)	missense	probably damaging	0.97
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
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'- CATGGAGGATGTCATCACTGC -3'
(R):5'- CTGCTAAAGTTGTTGTGCATGC -3'

Sequencing Primer
(F):5'- AGGATGTCATCACTGCTGCCTC -3'
(R):5'- GTGCATGCCACTTGTAGAGTATCC -3'

Posted On

2018-11-28