Incidental Mutation 'R5717:Hr'
ID 451235
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 043337-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5717 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 70789652-70810988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70803616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 808 (T808I)
Ref Sequence ENSEMBL: ENSMUSP00000124042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022691] [ENSMUST00000161069] [ENSMUST00000163060]
AlphaFold Q61645
Predicted Effect probably benign
Transcript: ENSMUST00000022691
AA Change: T779I

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022691
Gene: ENSMUSG00000022096
AA Change: T779I

DomainStartEndE-ValueType
Blast:JmjC 54 849 N/A BLAST
JmjC 939 1150 5.23e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161069
AA Change: T779I

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124816
Gene: ENSMUSG00000022096
AA Change: T779I

DomainStartEndE-ValueType
Blast:JmjC 54 849 N/A BLAST
JmjC 939 1150 5.23e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163060
AA Change: T808I

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124042
Gene: ENSMUSG00000022096
AA Change: T808I

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
Blast:JmjC 83 878 N/A BLAST
JmjC 968 1179 5.23e-38 SMART
Meta Mutation Damage Score 0.1881 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (48/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik A T 19: 42,041,484 (GRCm39) H205L probably benign Het
Acss2 T C 2: 155,403,073 (GRCm39) L617S probably damaging Het
Adgrl4 T C 3: 151,197,971 (GRCm39) V77A probably benign Het
Adnp2 A G 18: 80,171,479 (GRCm39) S977P probably benign Het
Ankrd11 T C 8: 123,619,377 (GRCm39) K1492E possibly damaging Het
B4galt5 G A 2: 167,148,549 (GRCm39) R190C probably damaging Het
Bbs1 A G 19: 4,947,354 (GRCm39) V355A possibly damaging Het
Cenpj GTTTT GTTTTT 14: 56,790,978 (GRCm39) probably null Het
Ckap2 T C 8: 22,665,063 (GRCm39) E467G probably damaging Het
Cry1 A T 10: 84,982,280 (GRCm39) H355Q probably damaging Het
Cspg4 G T 9: 56,793,082 (GRCm39) M272I probably benign Het
Dicer1 T A 12: 104,671,387 (GRCm39) Y961F probably damaging Het
Epha2 A T 4: 141,049,382 (GRCm39) M689L probably benign Het
Foxc1 C T 13: 31,991,471 (GRCm39) A94V probably benign Het
Fras1 T C 5: 96,929,596 (GRCm39) V4000A possibly damaging Het
Frmd8 G T 19: 5,923,396 (GRCm39) probably benign Het
Gm5218 A G 15: 81,383,478 (GRCm39) noncoding transcript Het
Gm7735 T C 16: 88,966,430 (GRCm39) L18P unknown Het
Hyal6 T C 6: 24,743,690 (GRCm39) M462T probably benign Het
Igkv6-20 T A 6: 70,313,412 (GRCm39) probably benign Het
Igkv8-27 T A 6: 70,148,918 (GRCm39) T59S probably benign Het
Itga11 A G 9: 62,659,531 (GRCm39) T428A probably benign Het
Klk1b16 A G 7: 43,788,913 (GRCm39) I49V probably benign Het
Matn2 G T 15: 34,399,237 (GRCm39) E375* probably null Het
Msgn1 T C 12: 11,258,519 (GRCm39) Y144C probably damaging Het
Myh1 A G 11: 67,099,782 (GRCm39) N564S probably benign Het
Mypn A G 10: 62,963,555 (GRCm39) V972A probably damaging Het
Or4c29 T C 2: 88,740,366 (GRCm39) I124V possibly damaging Het
Or5an11 A G 19: 12,246,520 (GRCm39) K309E probably benign Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Ppp2r5d A G 17: 46,998,820 (GRCm39) S81P probably damaging Het
Ptgis C T 2: 167,050,284 (GRCm39) probably benign Het
Ptprr A G 10: 115,884,018 (GRCm39) N25S probably benign Het
Rnf123 G A 9: 107,944,623 (GRCm39) T456I probably damaging Het
Rpl6l T C 10: 110,961,884 (GRCm39) noncoding transcript Het
Rps25 A G 9: 44,320,047 (GRCm39) Y23C probably benign Het
Sec24a A G 11: 51,598,037 (GRCm39) V879A probably benign Het
Sema6a G A 18: 47,382,330 (GRCm39) A739V probably benign Het
Senp6 A T 9: 79,999,594 (GRCm39) I4F probably damaging Het
Slc49a4 A G 16: 35,539,799 (GRCm39) F341L probably benign Het
Stoml3 A T 3: 53,412,937 (GRCm39) Q197L probably damaging Het
Ttn T A 2: 76,578,091 (GRCm39) K24267N probably damaging Het
Vmn1r43 T C 6: 89,846,905 (GRCm39) S194G probably damaging Het
Vmn2r17 C T 5: 109,575,140 (GRCm39) T149I possibly damaging Het
Wdr72 T A 9: 74,055,487 (GRCm39) Y239N probably damaging Het
Zfp423 A T 8: 88,413,187 (GRCm39) probably null Het
Zfp759 T A 13: 67,286,772 (GRCm39) C114S probably 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
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
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'- GACGCTGCAACTTCCTTTAGG -3'
(R):5'- AATGCTGTCCAGGATGTTGG -3'

Sequencing Primer
(F):5'- ACCCAGACATAGTACAGTAAAGTTG -3'
(R):5'- ATGTTGGTAATGCGGTCATCC -3'
Posted On 2017-01-03