Incidental Mutation 'IGL02380:Hr'
ID 291326
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hr
Ensembl Gene ENSMUSG00000022096
Gene Name lysine demethylase and nuclear receptor corepressor
Synonyms rh-bmh, rh, N, bldy, ba
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02380
Quality Score
Status
Chromosome 14
Chromosomal Location 70789652-70810988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70795201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 278 (R278G)
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: R249G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022691
Gene: ENSMUSG00000022096
AA Change: R249G

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: R249G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124816
Gene: ENSMUSG00000022096
AA Change: R249G

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: R278G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124042
Gene: ENSMUSG00000022096
AA Change: R278G

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,643,968 (GRCm39) P546T possibly damaging Het
Abca13 T C 11: 9,241,599 (GRCm39) I1154T possibly damaging Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acsm5 A T 7: 119,136,509 (GRCm39) Q360L probably benign Het
Adamtsl5 T C 10: 80,177,612 (GRCm39) E350G probably benign Het
Adgrl2 A T 3: 148,534,125 (GRCm39) L1017* probably null Het
Aqr T C 2: 113,940,417 (GRCm39) D1243G probably damaging Het
Arhgef17 G T 7: 100,578,650 (GRCm39) P766Q possibly damaging Het
Bclaf1 T C 10: 20,201,113 (GRCm39) V413A possibly damaging Het
Bcr A G 10: 75,011,131 (GRCm39) D14G probably benign Het
Cadps2 C T 6: 23,287,731 (GRCm39) V1190I probably benign Het
Cdh9 A G 15: 16,856,086 (GRCm39) I709V possibly damaging Het
Cnbd1 C A 4: 18,887,748 (GRCm39) probably null Het
Cnbd1 T A 4: 18,887,749 (GRCm39) probably null Het
Col4a3 T C 1: 82,650,509 (GRCm39) probably benign Het
Coro1a T A 7: 126,302,288 (GRCm39) K20* probably null Het
Crb2 T A 2: 37,673,447 (GRCm39) D114E probably damaging Het
Dnah6 C A 6: 73,053,623 (GRCm39) K2870N probably benign Het
Fpr3 A G 17: 18,191,254 (GRCm39) H175R probably benign Het
Gk5 T G 9: 96,032,533 (GRCm39) S248A possibly damaging Het
Grm4 T A 17: 27,653,635 (GRCm39) I772F probably damaging Het
Gstt4 A G 10: 75,653,073 (GRCm39) I163T possibly damaging Het
Igfbp5 T A 1: 72,903,108 (GRCm39) R156* probably null Het
Ighv1-4 G A 12: 114,450,753 (GRCm39) probably benign Het
Insyn2a A T 7: 134,500,873 (GRCm39) probably null Het
Kcna2 A C 3: 107,012,274 (GRCm39) Q285P probably benign Het
Klf5 A T 14: 99,538,894 (GRCm39) R102S possibly damaging Het
Ldb1 A T 19: 46,022,929 (GRCm39) M252K possibly damaging Het
Lrrc66 T C 5: 73,787,009 (GRCm39) I114V possibly damaging Het
Map1b A T 13: 99,567,651 (GRCm39) I1690N unknown Het
Myo1a A G 10: 127,550,354 (GRCm39) T565A probably benign Het
Nt5c T C 11: 115,382,127 (GRCm39) D84G possibly damaging Het
Pde1b A G 15: 103,428,417 (GRCm39) N51S possibly damaging Het
Pikfyve T A 1: 65,295,180 (GRCm39) L1437Q probably damaging Het
Pld5 C T 1: 175,967,610 (GRCm39) V82I probably damaging Het
Psmb6 T A 11: 70,416,737 (GRCm39) N42K probably benign Het
Slco3a1 G A 7: 74,204,238 (GRCm39) S34F probably damaging Het
Slfn9 A G 11: 82,872,046 (GRCm39) Y897H probably benign Het
Spag6l T C 16: 16,581,033 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem215 A T 4: 40,474,534 (GRCm39) I204F probably benign Het
Txnl1 A G 18: 63,807,114 (GRCm39) probably null Het
Ube2q2 T A 9: 55,070,296 (GRCm39) D79E probably benign Het
Ugt2a3 T C 5: 87,484,658 (GRCm39) D122G probably benign Het
Vmn2r73 A T 7: 85,507,383 (GRCm39) I643K probably benign Het
Xkrx T A X: 133,051,388 (GRCm39) H421L probably benign 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
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
R2377:Hr UTSW 14 70,795,318 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16