Mutagenetix > Incidental Mutation

Incidental Mutation 'R8730:Hey2'

662710

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

068578-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R8730 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30708355-30718779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30718622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 8 (T8K)

Ref Sequence

ENSEMBL: ENSMUSP00000019924 (fasta)

Gene Model

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

AlphaFold

Q9QUS4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019924
AA Change: T8K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019924
Gene: ENSMUSG00000019789
AA Change: T8K

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

0.0890

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	C	5: 8,208,830 (GRCm39)	S200A	probably benign	Het
Adgrg3	G	A	8: 95,766,556 (GRCm39)	R409H	probably benign	Het
Aldh1l2	C	T	10: 83,342,506 (GRCm39)	V548M	possibly damaging	Het
Ampd1	T	A	3: 102,992,676 (GRCm39)	C143*	probably null	Het
Angpt4	A	G	2: 151,771,467 (GRCm39)	Q261R	probably damaging	Het
Ccar1	T	C	10: 62,601,191 (GRCm39)	K491E	probably damaging	Het
Cd177	A	T	7: 24,457,501 (GRCm39)	M180K	possibly damaging	Het
Dcst2	C	T	3: 89,280,553 (GRCm39)	R620C	probably damaging	Het
Dcun1d4	T	A	5: 73,688,832 (GRCm39)		probably benign	Het
Dhrs1	T	A	14: 55,980,978 (GRCm39)	T103S	probably benign	Het
Dnah2	A	G	11: 69,384,087 (GRCm39)	L1043P	possibly damaging	Het
Eci3	A	T	13: 35,144,405 (GRCm39)	N19K	probably benign	Het
Ets1	A	T	9: 32,649,614 (GRCm39)	D317V	probably damaging	Het
Fem1c	T	C	18: 46,638,668 (GRCm39)	I445V	possibly damaging	Het
Gabpb1	T	C	2: 126,492,484 (GRCm39)	I176M	possibly damaging	Het
Gm6563	A	T	19: 23,653,429 (GRCm39)	K73I	probably damaging	Het
Grap2	A	G	15: 80,532,140 (GRCm39)	R252G	possibly damaging	Het
Gsx1	T	C	5: 147,126,651 (GRCm39)	L158P	probably damaging	Het
Hand2	T	A	8: 57,775,468 (GRCm39)	V176E	probably benign	Het
Igsf3	T	C	3: 101,334,532 (GRCm39)	I203T	probably benign	Het
Itgax	G	A	7: 127,739,066 (GRCm39)		probably null	Het
Kcnn2	A	G	18: 45,725,139 (GRCm39)	I212V	possibly damaging	Het
Kcnu1	G	T	8: 26,403,708 (GRCm39)	V740L	probably damaging	Het
Kcnv1	A	G	15: 44,972,797 (GRCm39)	I362T	probably damaging	Het
Klhdc9	C	T	1: 171,186,488 (GRCm39)	G316D	probably damaging	Het
Mcmbp	T	C	7: 128,317,738 (GRCm39)	E169G	probably damaging	Het
Muc20	G	T	16: 32,599,490 (GRCm39)	H645N	probably benign	Het
Nrm	A	G	17: 36,175,423 (GRCm39)	T52A	probably benign	Het
Or13a23-ps1	T	C	7: 140,119,197 (GRCm39)	S256P	unknown	Het
Or14c41	A	G	7: 86,235,259 (GRCm39)	K259E	probably benign	Het
Or2y3	A	T	17: 38,392,925 (GRCm39)	*315K	probably null	Het
Or4c105	T	A	2: 88,648,043 (GRCm39)	M176K	possibly damaging	Het
Or4g7	T	A	2: 111,309,934 (GRCm39)	D268E	probably damaging	Het
Or51f23	T	C	7: 102,453,348 (GRCm39)	V221A	probably benign	Het
Pde11a	A	T	2: 75,889,334 (GRCm39)	N713K	probably damaging	Het
Pfpl	T	C	19: 12,405,944 (GRCm39)	L65S	probably damaging	Het
Prox1	A	G	1: 189,894,238 (GRCm39)	V69A	possibly damaging	Het
Prss39	A	G	1: 34,539,198 (GRCm39)	H146R	probably damaging	Het
Pxt1	A	T	17: 29,153,702 (GRCm39)	F44I	possibly damaging	Het
Rbp3	A	G	14: 33,677,795 (GRCm39)	D581G	probably benign	Het
Rims2	A	G	15: 39,381,239 (GRCm39)	T1057A	probably benign	Het
Robo1	G	A	16: 72,786,495 (GRCm39)	G836R	probably benign	Het
Slc34a3	A	T	2: 25,122,057 (GRCm39)	S155T	possibly damaging	Het
Slc35d1	T	C	4: 103,030,951 (GRCm39)	Y308C		Het
Slfn9	T	C	11: 82,878,194 (GRCm39)	I312V	possibly damaging	Het
St3gal5	T	A	6: 72,130,461 (GRCm39)	L351Q	probably damaging	Het
Tanc1	A	G	2: 59,601,590 (GRCm39)	D157G	probably benign	Het
Tmprss11g	C	T	5: 86,638,837 (GRCm39)		probably null	Het
Tnpo1	A	T	13: 98,989,916 (GRCm39)	I745N	probably benign	Het
Uggt1	C	A	1: 36,236,624 (GRCm39)		probably null	Het
Ugt8a	G	A	3: 125,732,105 (GRCm39)		probably benign	Het
Urod	T	C	4: 116,850,729 (GRCm39)		probably benign	Het
Vmn1r211	A	T	13: 23,035,838 (GRCm39)	Y276*	probably null	Het
Vwa3a	T	A	7: 120,381,910 (GRCm39)	S582T	probably damaging	Het
Zfp869	A	T	8: 70,159,177 (GRCm39)	C465*	probably null	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
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
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'- AGTGTGAACTCCATCTCTCGC -3'
(R):5'- TTGCAGGTGATGGCCCAAAAC -3'

Sequencing Primer
(F):5'- GCCCCACCCGACTCTAG -3'
(R):5'- GTGATGGCCCAAAACCCAGG -3'

Posted On

2021-03-08