Incidental Mutation 'R2377:Hr'
ID 248327
Institutional Source Beutler Lab
Gene Symbol Hr
Ensembl Gene ENSMUSG00000022096
Gene Name lysine demethylase and nuclear receptor corepressor
Synonyms rh-bmh, rh, N, bldy, ba
MMRRC Submission 040354-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2377 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 70789652-70810988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70795318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 317 (L317F)
Ref Sequence ENSEMBL: ENSMUSP00000124042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022691] [ENSMUST00000161069] [ENSMUST00000163060]
AlphaFold Q61645
Predicted Effect probably damaging
Transcript: ENSMUST00000022691
AA Change: L288F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022691
Gene: ENSMUSG00000022096
AA Change: L288F

DomainStartEndE-ValueType
Blast:JmjC 54 849 N/A BLAST
JmjC 939 1150 5.23e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159959
Predicted Effect probably damaging
Transcript: ENSMUST00000161069
AA Change: L288F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124816
Gene: ENSMUSG00000022096
AA Change: L288F

DomainStartEndE-ValueType
Blast:JmjC 54 849 N/A BLAST
JmjC 939 1150 5.23e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161468
Predicted Effect probably damaging
Transcript: ENSMUST00000163060
AA Change: L317F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124042
Gene: ENSMUSG00000022096
AA Change: L317F

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
Blast:JmjC 83 878 N/A BLAST
JmjC 968 1179 5.23e-38 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory ORF that exists upstream of the primary ORF. Mutations in this upstream ORF, U2HR, cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss in human. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mutant homozygotes exhibit hair loss, usually wrinkled skin with epidermal cysts. Females do not nurse their pups well. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,285,787 (GRCm39) D1304G probably damaging Het
Adamts10 C A 17: 33,747,866 (GRCm39) H101N probably damaging Het
Apaf1 T A 10: 90,915,755 (GRCm39) K44N possibly damaging Het
Aqr A T 2: 113,971,421 (GRCm39) N471K possibly damaging Het
Blvrb T A 7: 27,159,024 (GRCm39) I94N probably damaging Het
Ccdc38 C T 10: 93,409,897 (GRCm39) P239S probably damaging Het
Chst4 T A 8: 110,756,804 (GRCm39) Y270F possibly damaging Het
Col5a1 T C 2: 27,818,189 (GRCm39) F138S unknown Het
Dhx32 G T 7: 133,326,207 (GRCm39) H407N probably damaging Het
Dock3 G A 9: 106,773,090 (GRCm39) P388S probably damaging Het
Fbxo10 A C 4: 45,044,719 (GRCm39) Y639D probably benign Het
Fsip2 A G 2: 82,806,593 (GRCm39) T971A probably benign Het
Gli2 C T 1: 118,764,855 (GRCm39) A1099T possibly damaging Het
Ice1 G A 13: 70,750,899 (GRCm39) A1729V probably damaging Het
Mcc C G 18: 44,652,616 (GRCm39) K269N probably damaging Het
Miga2 T A 2: 30,274,002 (GRCm39) C83* probably null Het
Msl1 A G 11: 98,694,789 (GRCm39) R273G probably damaging Het
Msl3l2 T C 10: 55,991,659 (GRCm39) I128T probably damaging Het
Ntrk1 T A 3: 87,698,714 (GRCm39) D109V possibly damaging Het
Or14j5 A G 17: 38,161,498 (GRCm39) N5S probably damaging Het
Or4b13 A G 2: 90,083,255 (GRCm39) F26L probably damaging Het
Or4f14b A T 2: 111,774,988 (GRCm39) L271Q probably damaging Het
Or5b97 T A 19: 12,878,217 (GRCm39) Y309F possibly damaging Het
Pcmtd2 A G 2: 181,497,072 (GRCm39) probably benign Het
Polr1a T C 6: 71,949,810 (GRCm39) probably null Het
Ptk2b T A 14: 66,409,997 (GRCm39) I452F possibly damaging Het
Rad21 A G 15: 51,831,834 (GRCm39) F416L probably damaging Het
Scn5a A T 9: 119,368,793 (GRCm39) I244N probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Tnpo3 A C 6: 29,579,618 (GRCm39) N258K probably benign Het
Uba6 T C 5: 86,272,229 (GRCm39) D789G possibly damaging Het
Vmn1r226 T G 17: 20,907,992 (GRCm39) L75V probably benign Het
Zfp729b A C 13: 67,739,820 (GRCm39) V815G possibly damaging Het
Other mutations in Hr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01805:Hr APN 14 70,802,737 (GRCm39) splice site probably benign
IGL02020:Hr APN 14 70,793,877 (GRCm39) missense probably benign 0.01
IGL02372:Hr APN 14 70,795,790 (GRCm39) missense possibly damaging 0.94
IGL02380:Hr APN 14 70,795,201 (GRCm39) missense probably damaging 0.98
IGL02554:Hr APN 14 70,797,306 (GRCm39) splice site probably benign
IGL02949:Hr APN 14 70,797,225 (GRCm39) missense possibly damaging 0.87
IGL03406:Hr APN 14 70,800,860 (GRCm39) critical splice donor site probably null
angie UTSW 14 70,805,273 (GRCm39) missense probably damaging 0.97
blofeld UTSW 14 70,805,525 (GRCm39) missense probably damaging 1.00
general UTSW 14 70,801,124 (GRCm39) critical splice donor site probably null
kaburo UTSW 14 0 () unclassified
mister_clean UTSW 14 70,797,504 (GRCm39) critical splice donor site probably benign
mushroom UTSW 14 70,805,525 (GRCm39) missense probably damaging 1.00
prune UTSW 14 70,808,869 (GRCm39) missense probably damaging 1.00
ren UTSW 14 70,805,525 (GRCm39) missense probably damaging 1.00
subclinical UTSW 14 70,799,276 (GRCm39) missense possibly damaging 0.89
vessel UTSW 14 70,799,305 (GRCm39) nonsense probably null
yuanxiao UTSW 14 70,808,888 (GRCm39) missense probably damaging 1.00
R0018:Hr UTSW 14 70,795,717 (GRCm39) missense probably benign
R0038:Hr UTSW 14 70,805,525 (GRCm39) missense probably damaging 1.00
R0374:Hr UTSW 14 70,793,916 (GRCm39) missense probably benign 0.01
R0511:Hr UTSW 14 70,799,352 (GRCm39) nonsense probably null
R0609:Hr UTSW 14 70,797,097 (GRCm39) missense probably benign
R1828:Hr UTSW 14 70,809,477 (GRCm39) critical splice donor site probably null
R2030:Hr UTSW 14 70,808,888 (GRCm39) missense probably damaging 1.00
R2266:Hr UTSW 14 70,795,547 (GRCm39) missense probably benign
R2267:Hr UTSW 14 70,795,547 (GRCm39) missense probably benign
R2268:Hr UTSW 14 70,795,547 (GRCm39) missense probably benign
R3686:Hr UTSW 14 70,795,236 (GRCm39) missense probably damaging 0.98
R3687:Hr UTSW 14 70,795,236 (GRCm39) missense probably damaging 0.98
R3754:Hr UTSW 14 70,805,264 (GRCm39) missense probably damaging 1.00
R3803:Hr UTSW 14 70,795,333 (GRCm39) missense probably benign 0.01
R3846:Hr UTSW 14 70,808,893 (GRCm39) missense probably damaging 1.00
R3977:Hr UTSW 14 70,801,024 (GRCm39) missense probably benign 0.01
R3978:Hr UTSW 14 70,801,024 (GRCm39) missense probably benign 0.01
R3979:Hr UTSW 14 70,801,024 (GRCm39) missense probably benign 0.01
R4528:Hr UTSW 14 70,803,823 (GRCm39) missense probably damaging 1.00
R4654:Hr UTSW 14 70,801,013 (GRCm39) missense probably damaging 0.99
R4834:Hr UTSW 14 70,797,362 (GRCm39) missense probably damaging 0.98
R4847:Hr UTSW 14 70,793,916 (GRCm39) missense probably benign 0.04
R4863:Hr UTSW 14 70,809,412 (GRCm39) missense probably damaging 1.00
R5292:Hr UTSW 14 70,809,432 (GRCm39) missense probably damaging 1.00
R5452:Hr UTSW 14 70,794,067 (GRCm39) missense probably damaging 1.00
R5717:Hr UTSW 14 70,803,616 (GRCm39) missense probably benign 0.34
R5902:Hr UTSW 14 70,795,231 (GRCm39) missense probably benign 0.02
R6000:Hr UTSW 14 70,805,273 (GRCm39) missense probably damaging 0.97
R6439:Hr UTSW 14 70,799,276 (GRCm39) missense possibly damaging 0.89
R6823:Hr UTSW 14 70,802,814 (GRCm39) missense probably damaging 0.98
R7030:Hr UTSW 14 70,801,124 (GRCm39) critical splice donor site probably null
R7213:Hr UTSW 14 70,795,790 (GRCm39) missense probably damaging 0.99
R7452:Hr UTSW 14 70,808,926 (GRCm39) missense probably damaging 1.00
R7468:Hr UTSW 14 70,795,652 (GRCm39) missense possibly damaging 0.89
R7572:Hr UTSW 14 70,799,293 (GRCm39) missense possibly damaging 0.66
R7956:Hr UTSW 14 70,797,327 (GRCm39) missense probably benign
R7996:Hr UTSW 14 70,801,043 (GRCm39) nonsense probably null
R7997:Hr UTSW 14 70,801,043 (GRCm39) nonsense probably null
R8076:Hr UTSW 14 70,795,381 (GRCm39) missense probably benign 0.00
R8101:Hr UTSW 14 70,805,282 (GRCm39) missense possibly damaging 0.67
R8553:Hr UTSW 14 70,804,965 (GRCm39) missense probably damaging 1.00
R8749:Hr UTSW 14 70,795,510 (GRCm39) missense probably damaging 1.00
R8850:Hr UTSW 14 70,799,305 (GRCm39) nonsense probably null
R8949:Hr UTSW 14 70,795,328 (GRCm39) missense probably benign 0.01
R9139:Hr UTSW 14 70,795,079 (GRCm39) missense possibly damaging 0.65
R9236:Hr UTSW 14 70,809,396 (GRCm39) missense probably damaging 1.00
R9246:Hr UTSW 14 70,808,915 (GRCm39) missense probably damaging 1.00
R9327:Hr UTSW 14 70,805,228 (GRCm39) missense possibly damaging 0.91
R9337:Hr UTSW 14 70,797,324 (GRCm39) missense probably benign 0.00
R9487:Hr UTSW 14 70,794,205 (GRCm39) missense possibly damaging 0.77
R9487:Hr UTSW 14 70,793,877 (GRCm39) missense probably benign 0.01
R9700:Hr UTSW 14 70,804,616 (GRCm39) missense probably benign 0.00
X0025:Hr UTSW 14 70,804,391 (GRCm39) splice site probably null
X0026:Hr UTSW 14 70,805,281 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGGCTTTTACCACAAGGATCCG -3'
(R):5'- TGGCATTTCCTACAAGGGCC -3'

Sequencing Primer
(F):5'- GGATCCGAACATCCTCAGG -3'
(R):5'- TTTCCTACAAGGGCCAAGATC -3'
Posted On 2014-11-11