Incidental Mutation 'R0511:Hr'
ID 46959
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 038705-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0511 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 70789652-70810988 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 70799352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 641 (C641*)
Ref Sequence ENSEMBL: ENSMUSP00000124042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022691] [ENSMUST00000161069] [ENSMUST00000163060]
AlphaFold Q61645
Predicted Effect probably null
Transcript: ENSMUST00000022691
AA Change: C612*
SMART Domains Protein: ENSMUSP00000022691
Gene: ENSMUSG00000022096
AA Change: C612*

DomainStartEndE-ValueType
Blast:JmjC 54 849 N/A BLAST
JmjC 939 1150 5.23e-38 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161069
AA Change: C612*
SMART Domains Protein: ENSMUSP00000124816
Gene: ENSMUSG00000022096
AA Change: C612*

DomainStartEndE-ValueType
Blast:JmjC 54 849 N/A BLAST
JmjC 939 1150 5.23e-38 SMART
Predicted Effect probably null
Transcript: ENSMUST00000163060
AA Change: C641*
SMART Domains Protein: ENSMUSP00000124042
Gene: ENSMUSG00000022096
AA Change: C641*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (116/116)
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: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,843,771 (GRCm39) H155R possibly damaging Het
Abca13 G T 11: 9,244,559 (GRCm39) V2141L probably benign Het
Adam17 T C 12: 21,390,459 (GRCm39) probably benign Het
Adam3 A T 8: 25,185,331 (GRCm39) C456S probably damaging Het
Aldh4a1 G T 4: 139,369,882 (GRCm39) probably benign Het
Anapc4 A G 5: 52,999,359 (GRCm39) probably benign Het
Ank3 A T 10: 69,718,198 (GRCm39) Q483L probably damaging Het
Ankle2 A G 5: 110,389,925 (GRCm39) probably benign Het
Ankrd13b T A 11: 77,364,114 (GRCm39) T150S possibly damaging Het
Apeh A G 9: 107,964,254 (GRCm39) M524T probably benign Het
Arl14epl T A 18: 47,059,484 (GRCm39) probably null Het
Atg2a T C 19: 6,302,569 (GRCm39) F964S possibly damaging Het
Atg2b C T 12: 105,583,412 (GRCm39) V2050M probably damaging Het
Atp2b4 A T 1: 133,659,956 (GRCm39) probably benign Het
Bbof1 T A 12: 84,477,045 (GRCm39) S512T probably benign Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Car10 T C 11: 93,381,408 (GRCm39) Y100H probably damaging Het
Ccdc81 T A 7: 89,542,504 (GRCm39) E124V probably damaging Het
Cd84 A G 1: 171,700,494 (GRCm39) T204A probably benign Het
Celf2 A G 2: 6,608,987 (GRCm39) S178P probably damaging Het
Chat G A 14: 32,130,976 (GRCm39) T555M probably damaging Het
Chd6 A G 2: 160,834,111 (GRCm39) F917S probably damaging Het
Chrna2 C A 14: 66,386,553 (GRCm39) T233N probably damaging Het
Cnpy2 T C 10: 128,162,054 (GRCm39) V109A probably benign Het
Col4a1 T C 8: 11,258,333 (GRCm39) probably null Het
Csmd1 C T 8: 15,982,529 (GRCm39) V2713M possibly damaging Het
Cuedc1 G A 11: 88,074,231 (GRCm39) R255Q probably damaging Het
Cxcl15 A T 5: 90,945,897 (GRCm39) probably benign Het
Dach1 A T 14: 98,138,765 (GRCm39) H559Q possibly damaging Het
Dele1 T C 18: 38,387,124 (GRCm39) probably null Het
Dennd4c C T 4: 86,744,259 (GRCm39) T1367M probably damaging Het
Depdc5 T A 5: 33,102,372 (GRCm39) Y365* probably null Het
Dicer1 T C 12: 104,669,100 (GRCm39) Y1194C possibly damaging Het
Dmxl1 C G 18: 50,024,534 (GRCm39) S1736* probably null Het
Dnah7a C T 1: 53,536,285 (GRCm39) R2586K probably benign Het
Dnajb8 T C 6: 88,199,467 (GRCm39) M1T probably null Het
Dync2h1 G A 9: 7,122,692 (GRCm39) P2088L probably benign Het
Eftud2 T G 11: 102,735,048 (GRCm39) H617P probably damaging Het
Ephb1 A G 9: 101,873,179 (GRCm39) probably benign Het
Fam184a G T 10: 53,574,975 (GRCm39) H155Q probably benign Het
Firrm T C 1: 163,799,412 (GRCm39) probably null Het
Ganc G T 2: 120,278,882 (GRCm39) E700* probably null Het
Gm10912 A G 2: 103,897,290 (GRCm39) probably benign Het
Haus5 A T 7: 30,358,492 (GRCm39) I294N probably damaging Het
Hmgcr G T 13: 96,796,651 (GRCm39) probably null Het
Itga10 A G 3: 96,565,490 (GRCm39) N1038S probably damaging Het
Itgb1bp1 T G 12: 21,321,436 (GRCm39) Y172S probably damaging Het
Kprp T C 3: 92,732,030 (GRCm39) N340S probably damaging Het
Kremen1 A G 11: 5,165,447 (GRCm39) I41T probably damaging Het
Krt6b A G 15: 101,586,042 (GRCm39) probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Ldhd A G 8: 112,356,309 (GRCm39) Y86H probably benign Het
Lilra6 A T 7: 3,915,784 (GRCm39) I76N possibly damaging Het
Mak T C 13: 41,199,743 (GRCm39) T299A probably benign Het
Med25 A G 7: 44,534,502 (GRCm39) probably null Het
Mpg A T 11: 32,180,039 (GRCm39) N189I probably damaging Het
Mroh8 A G 2: 157,071,838 (GRCm39) Y556H probably damaging Het
Myh8 T A 11: 67,175,333 (GRCm39) S294T probably benign Het
Myom1 T A 17: 71,391,312 (GRCm39) D842E probably benign Het
Myorg A G 4: 41,498,538 (GRCm39) F364S probably damaging Het
Nat2 C T 8: 67,953,982 (GRCm39) Q31* probably null Het
Nf1 T A 11: 79,329,595 (GRCm39) M653K probably benign Het
Nhs C A X: 160,620,355 (GRCm39) R1467I probably damaging Het
Npr2 A G 4: 43,632,801 (GRCm39) E206G probably benign Het
Nsd3 G A 8: 26,168,732 (GRCm39) G629D possibly damaging Het
Nwd1 G A 8: 73,408,633 (GRCm39) C831Y probably damaging Het
Or52r1c T C 7: 102,735,058 (GRCm39) I111T probably damaging Het
Or5t9 A G 2: 86,659,950 (GRCm39) I285V probably benign Het
P2ry14 A G 3: 59,023,449 (GRCm39) S4P possibly damaging Het
Parp4 A G 14: 56,873,172 (GRCm39) probably benign Het
Pate14 A T 9: 36,549,873 (GRCm39) probably null Het
Pclo A G 5: 14,728,299 (GRCm39) probably benign Het
Pclo T C 5: 14,729,412 (GRCm39) probably benign Het
Pcnt A T 10: 76,240,429 (GRCm39) S1202T possibly damaging Het
Pfkfb4 A G 9: 108,856,825 (GRCm39) Y412C probably damaging Het
Pgm2 T A 5: 64,267,898 (GRCm39) V449D probably damaging Het
Poldip3 T A 15: 83,022,436 (GRCm39) D116V probably damaging Het
Pom121 G T 5: 135,410,686 (GRCm39) Q824K unknown Het
Prkdc G T 16: 15,649,146 (GRCm39) G3707* probably null Het
Prr14l T C 5: 33,001,560 (GRCm39) probably benign Het
Ptbp2 T G 3: 119,514,613 (GRCm39) I405L probably benign Het
Rad21l A T 2: 151,490,989 (GRCm39) probably benign Het
Rbm6 G A 9: 107,724,488 (GRCm39) Q488* probably null Het
Rdh1 T A 10: 127,600,652 (GRCm39) M225K probably benign Het
Recql5 T C 11: 115,819,209 (GRCm39) D119G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo1 T C 16: 72,810,013 (GRCm39) probably null Het
Samd12 G A 15: 53,723,567 (GRCm39) T42I probably benign Het
Scn10a A T 9: 119,442,766 (GRCm39) M1494K probably damaging Het
Sec31a G A 5: 100,523,099 (GRCm39) P864L probably benign Het
Senp2 T C 16: 21,855,320 (GRCm39) V344A probably benign Het
Serpina5 G A 12: 104,069,621 (GRCm39) D278N probably benign Het
Sh3tc1 A T 5: 35,860,806 (GRCm39) V1017D probably damaging Het
Sin3a T A 9: 57,004,179 (GRCm39) Y310* probably null Het
Slc25a32 T C 15: 38,960,940 (GRCm39) T248A probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc4a10 G A 2: 62,117,206 (GRCm39) V722M probably damaging Het
Slco1a4 A G 6: 141,776,586 (GRCm39) probably benign Het
Smg6 T A 11: 74,819,884 (GRCm39) Y52N probably damaging Het
Sncb T G 13: 54,913,400 (GRCm39) T33P probably damaging Het
Spef2 A G 15: 9,584,070 (GRCm39) probably null Het
Spmip1 G T 6: 29,478,169 (GRCm39) probably benign Het
Sugp1 A G 8: 70,512,013 (GRCm39) E203G probably damaging Het
Suv39h2 A T 2: 3,473,616 (GRCm39) C105S probably damaging Het
Tlr1 A T 5: 65,083,963 (GRCm39) F205I probably damaging Het
Tnip1 A T 11: 54,808,699 (GRCm39) M496K probably damaging Het
Tnxb G A 17: 34,937,219 (GRCm39) E2889K probably damaging Het
Trim30b T A 7: 104,015,010 (GRCm39) H126L possibly damaging Het
Trpm7 A T 2: 126,668,638 (GRCm39) Y759* probably null Het
Ttc17 A G 2: 94,153,465 (GRCm39) I1000T possibly damaging Het
Ttc27 A T 17: 75,025,710 (GRCm39) N61I probably benign Het
Uba6 T C 5: 86,260,609 (GRCm39) Y990C probably damaging Het
Vav3 A G 3: 109,571,756 (GRCm39) probably benign Het
Vmn2r55 C T 7: 12,404,945 (GRCm39) A153T possibly damaging Het
Wars2 A G 3: 99,123,865 (GRCm39) D242G probably damaging Het
Xylt2 G A 11: 94,560,762 (GRCm39) Q259* probably null Het
Zfp27 G A 7: 29,593,947 (GRCm39) P673S probably damaging Het
Zgrf1 T C 3: 127,378,309 (GRCm39) I1023T 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
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
Predicted Primers PCR Primer
(F):5'- CTGCTATGTGCGATCTCCCCAAG -3'
(R):5'- AAGAAGGCACCTGACTTCTGTGTG -3'

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