Incidental Mutation 'R0553:Hey2'
ID 45289
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 038745-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R0553 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 30708355-30718779 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 30716485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000019924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019924]
AlphaFold Q9QUS4
Predicted Effect probably benign
Transcript: ENSMUST00000019924
SMART Domains Protein: ENSMUSP00000019924
Gene: ENSMUSG00000019789

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217504
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (42/42)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,596,128 (GRCm39) M120L unknown Het
Aadacl4fm5 T A 4: 144,503,985 (GRCm39) I389L possibly damaging Het
Adamts13 T A 2: 26,881,346 (GRCm39) C774* probably null Het
Amh A G 10: 80,642,010 (GRCm39) probably benign Het
Armh4 T C 14: 49,920,143 (GRCm39) I729V probably damaging Het
Cd40 G A 2: 164,912,661 (GRCm39) R204Q probably benign Het
Cfap210 C A 2: 69,619,785 (GRCm39) R8L probably damaging Het
Clhc1 A C 11: 29,511,366 (GRCm39) probably benign Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Flg2 A T 3: 93,110,891 (GRCm39) H973L unknown Het
Fut2 T A 7: 45,300,698 (GRCm39) I25F probably damaging Het
Galnt7 T C 8: 58,005,464 (GRCm39) probably benign Het
Gmppb A T 9: 107,926,996 (GRCm39) M56L probably benign Het
Grm3 C A 5: 9,620,048 (GRCm39) A399S probably benign Het
H2-T5 G T 17: 36,478,949 (GRCm39) P100Q probably damaging Het
Ift172 A G 5: 31,433,186 (GRCm39) probably benign Het
Kcnh5 C A 12: 75,184,447 (GRCm39) C92F probably benign Het
Kdm1a T C 4: 136,282,609 (GRCm39) D229G probably damaging Het
Klf11 C G 12: 24,705,089 (GRCm39) P164R probably benign Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Krtcap3 T C 5: 31,409,147 (GRCm39) V6A probably benign Het
Ltbr A C 6: 125,290,351 (GRCm39) probably null Het
Mmp17 T G 5: 129,675,734 (GRCm39) S298A probably benign Het
Nacc2 T A 2: 25,979,602 (GRCm39) E278V possibly damaging Het
Or5k8 A T 16: 58,644,518 (GRCm39) Y185N probably damaging Het
Or8b12b T A 9: 37,684,627 (GRCm39) I224N probably benign Het
Otop2 C T 11: 115,220,288 (GRCm39) A376V probably damaging Het
Pdia2 T C 17: 26,415,217 (GRCm39) E504G probably damaging Het
Pdzph1 C T 17: 59,229,722 (GRCm39) V979M probably damaging Het
Pou5f1 A G 17: 35,820,374 (GRCm39) K86R possibly damaging Het
Ptprq A G 10: 107,546,488 (GRCm39) F269L probably benign Het
Rb1 A T 14: 73,449,152 (GRCm39) C659* probably null Het
Rnf8 T C 17: 29,840,613 (GRCm39) probably null Het
Rras T G 7: 44,669,980 (GRCm39) I137M probably benign Het
Slc38a9 A T 13: 112,850,732 (GRCm39) H372L probably damaging Het
Spata9 T C 13: 76,125,898 (GRCm39) probably null Het
Tas2r115 T C 6: 132,714,922 (GRCm39) T10A probably benign Het
Ttn T C 2: 76,629,237 (GRCm39) E12621G probably damaging Het
Unc80 A T 1: 66,545,828 (GRCm39) I460F probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Zbtb24 C T 10: 41,327,993 (GRCm39) A293V possibly damaging Het
Zpld2 T C 4: 133,929,829 (GRCm39) T159A possibly damaging Het
Other mutations in Hey2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCACAGTTTTAAGCAAAACCCCTGC -3'
(R):5'- TGATGAGGTCCAATTCACCGACAAC -3'

Sequencing Primer
(F):5'- TTCTACGCCGGATCAGAGTG -3'
(R):5'- ACTACCTCTCAGATTATGGCAAG -3'
Posted On 2013-06-11