Mutagenetix > Incidental Mutation

Incidental Mutation 'R7079:Hey2'

549424

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

045173-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R7079 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30708355-30718779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30710382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 124 (I124F)

Ref Sequence

ENSEMBL: ENSMUSP00000019924 (fasta)

Gene Model

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

AlphaFold

Q9QUS4

Predicted Effect

probably benign
Transcript: ENSMUST00000019924
AA Change: I124F

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000019924
Gene: ENSMUSG00000019789
AA Change: I124F

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (50/51)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,402,323 (GRCm39)	L405S	possibly damaging	Het
2310009B15Rik	T	A	1: 138,779,865 (GRCm39)	Q129L	possibly damaging	Het
4921509C19Rik	T	G	2: 151,315,198 (GRCm39)	D160A	probably damaging	Het
Aspn	A	G	13: 49,720,031 (GRCm39)	Y349C	probably damaging	Het
Atp2b1	A	G	10: 98,854,595 (GRCm39)	T1063A	probably benign	Het
BC035947	T	C	1: 78,474,552 (GRCm39)	E660G	probably damaging	Het
Cadps2	A	G	6: 23,323,408 (GRCm39)	L970P	probably damaging	Het
Caskin1	T	C	17: 24,717,858 (GRCm39)	I215T	probably benign	Het
Cort	C	G	4: 149,211,848 (GRCm39)	G85R	probably benign	Het
Cyp1a2	T	C	9: 57,589,161 (GRCm39)	I218V	probably benign	Het
Egfem1	T	A	3: 29,207,731 (GRCm39)	H140Q	probably benign	Het
Elapor2	A	G	5: 9,449,253 (GRCm39)	Y127C	probably damaging	Het
Fbln5	G	A	12: 101,723,667 (GRCm39)	P345S	probably damaging	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Gfpt2	G	A	11: 49,728,578 (GRCm39)	V679I	possibly damaging	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Grm1	T	C	10: 10,955,702 (GRCm39)	D194G	probably damaging	Het
Hectd1	G	A	12: 51,834,638 (GRCm39)	T875M	possibly damaging	Het
Hhat	T	C	1: 192,235,354 (GRCm39)	H434R	possibly damaging	Het
Itpripl2	A	G	7: 118,090,092 (GRCm39)	F156L	possibly damaging	Het
Kctd11	A	G	11: 69,770,847 (GRCm39)	Y64H	probably damaging	Het
Lmln	T	C	16: 32,887,661 (GRCm39)	L97P	probably benign	Het
Lrrc30	T	C	17: 67,939,016 (GRCm39)	D188G	possibly damaging	Het
Mmd	T	A	11: 90,158,325 (GRCm39)		probably null	Het
Nav3	G	A	10: 109,603,153 (GRCm39)	S1132L	probably benign	Het
Or1l4	C	A	2: 37,092,185 (GRCm39)	H311N	probably benign	Het
Or4c101	C	A	2: 88,389,853 (GRCm39)	N2K	probably damaging	Het
Or52ab7	C	T	7: 102,978,391 (GRCm39)	R233C	probably benign	Het
Pcdh15	A	G	10: 74,152,957 (GRCm39)	T421A	probably benign	Het
Pfkm	G	A	15: 97,992,963 (GRCm39)	R7H	probably benign	Het
Psme2b	A	G	11: 48,836,443 (GRCm39)	F168S	probably damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptpn13	T	C	5: 103,649,752 (GRCm39)	V385A	probably benign	Het
Reep5	G	A	18: 34,480,176 (GRCm39)	T189I	probably damaging	Het
Sacm1l	T	A	9: 123,399,062 (GRCm39)	Y272N	probably damaging	Het
Slc26a6	T	A	9: 108,735,147 (GRCm39)	H348Q	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Spata31f1a	T	C	4: 42,851,718 (GRCm39)	E146G	probably benign	Het
Stkld1	A	G	2: 26,839,359 (GRCm39)	I342V	probably benign	Het
Trim23	A	T	13: 104,323,801 (GRCm39)		probably null	Het
Trmt13	T	C	3: 116,376,480 (GRCm39)	T304A	probably benign	Het
Tyw3	G	C	3: 154,299,426 (GRCm39)	S94R	probably benign	Het
Ubqln3	A	T	7: 103,790,578 (GRCm39)	I504K	probably benign	Het
Uhrf2	T	G	19: 30,060,190 (GRCm39)	N519K	probably null	Het
Wdr93	T	C	7: 79,399,040 (GRCm39)	M58T	probably damaging	Het
Wwc2	G	A	8: 48,300,580 (GRCm39)	T961M	unknown	Het
Zfp35	C	T	18: 24,136,357 (GRCm39)	H234Y	possibly damaging	Het
Zscan21	C	T	5: 138,124,728 (GRCm39)	P215S	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
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
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'- GACTCTGATGTGTGGAGTCC -3'
(R):5'- TGTGTTTTCAGAAAGAGTCATCCC -3'

Sequencing Primer
(F):5'- AAAGCAGCTGCCCAGTG -3'
(R):5'- GTTTTCAGAAAGAGTCATCCCATCTC -3'

Posted On

2019-05-15