Incidental Mutation 'R7213:Hr'
ID 561247
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 045341-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 70789652-70810988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70795790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 445 (E445V)
Ref Sequence ENSEMBL: ENSMUSP00000124816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022691] [ENSMUST00000161069] [ENSMUST00000163060]
AlphaFold Q61645
Predicted Effect probably damaging
Transcript: ENSMUST00000022691
AA Change: E445V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022691
Gene: ENSMUSG00000022096
AA Change: E445V

DomainStartEndE-ValueType
Blast:JmjC 54 849 N/A BLAST
JmjC 939 1150 5.23e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161069
AA Change: E445V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124816
Gene: ENSMUSG00000022096
AA Change: E445V

DomainStartEndE-ValueType
Blast:JmjC 54 849 N/A BLAST
JmjC 939 1150 5.23e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163060
AA Change: E474V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124042
Gene: ENSMUSG00000022096
AA Change: E474V

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S 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
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
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'- ACTCGGAACAGTTTGAGTGC -3'
(R):5'- GTGGTAGCCAACACTAAGAGCC -3'

Sequencing Primer
(F):5'- ACAGTTTGAGTGCCCAGG -3'
(R):5'- CCAGAAAACTGTGTTGCTTCAGG -3'
Posted On 2019-06-26