Incidental Mutation 'R2852:Krt82'
ID 252338
Institutional Source Beutler Lab
Gene Symbol Krt82
Ensembl Gene ENSMUSG00000049548
Gene Name keratin 82
Synonyms Krt2-20
MMRRC Submission 040445-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2852 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 101449651-101459094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101456870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 170 (Y170C)
Ref Sequence ENSEMBL: ENSMUSP00000023713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023713] [ENSMUST00000023714]
AlphaFold Q99M74
Predicted Effect probably damaging
Transcript: ENSMUST00000023713
AA Change: Y170C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: Y170C

DomainStartEndE-ValueType
low complexity region 38 57 N/A INTRINSIC
Pfam:Keratin_2_head 61 114 6.1e-13 PFAM
Filament 117 428 1.32e-153 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000023714
SMART Domains Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699

DomainStartEndE-ValueType
Pfam:Keratin_2_head 16 139 3.1e-24 PFAM
Filament 142 453 1.05e-179 SMART
low complexity region 465 522 N/A INTRINSIC
low complexity region 527 535 N/A INTRINSIC
Meta Mutation Damage Score 0.5599 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 A C 1: 34,763,129 (GRCm39) D795A unknown Het
Bank1 A T 3: 135,948,701 (GRCm39) S159T possibly damaging Het
Catsperd A G 17: 56,967,169 (GRCm39) probably null Het
Cblc A G 7: 19,514,889 (GRCm39) probably null Het
Cfap54 T C 10: 92,776,017 (GRCm39) Y48C probably damaging Het
Chrng A G 1: 87,134,428 (GRCm39) I156M probably benign Het
Dennd5a A T 7: 109,532,878 (GRCm39) N297K probably damaging Het
Depdc5 A G 5: 33,081,515 (GRCm39) E559G probably damaging Het
Dnai4 A G 4: 102,953,858 (GRCm39) S114P probably benign Het
Dzip1 A C 14: 119,159,857 (GRCm39) M117R possibly damaging Het
Ednrb G T 14: 104,059,110 (GRCm39) S305R probably benign Het
Egflam A T 15: 7,249,182 (GRCm39) W879R probably damaging Het
Ehbp1l1 T A 19: 5,766,515 (GRCm39) D332V probably damaging Het
Far1 T C 7: 113,152,944 (GRCm39) Y351H possibly damaging Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Hspd1 A T 1: 55,120,256 (GRCm39) D315E probably damaging Het
Kap T C 6: 133,827,057 (GRCm39) K92E probably benign Het
Kcnv2 T C 19: 27,300,496 (GRCm39) Y116H probably benign Het
Krtap13 T C 16: 88,548,524 (GRCm39) probably benign Het
Man2a1 A G 17: 65,020,596 (GRCm39) K791E probably benign Het
Map4k4 T A 1: 40,039,915 (GRCm39) probably benign Het
Mdc1 T A 17: 36,159,902 (GRCm39) V670D probably benign Het
Mre11a A G 9: 14,737,843 (GRCm39) E599G probably benign Het
Mrln T C 10: 70,055,456 (GRCm39) I44T possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mycbp2 A T 14: 103,381,769 (GRCm39) F3724I probably damaging Het
Npsr1 A G 9: 24,221,301 (GRCm39) probably benign Het
Oosp3 T A 19: 11,676,896 (GRCm39) probably null Het
Pah T A 10: 87,403,327 (GRCm39) L131Q probably damaging Het
Pde6h G A 6: 136,940,206 (GRCm39) C64Y probably damaging Het
Pdzd7 C G 19: 45,016,113 (GRCm39) V1003L probably benign Het
Pilra T A 5: 137,834,342 (GRCm39) M14L probably benign Het
Prkdc T C 16: 15,470,416 (GRCm39) probably null Het
Rnf168 A G 16: 32,101,192 (GRCm39) E124G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Spata1 A G 3: 146,193,295 (GRCm39) L96P possibly damaging Het
Stk11ip A G 1: 75,505,911 (GRCm39) probably benign Het
Stx5a T C 19: 8,732,476 (GRCm39) probably benign Het
Tek A G 4: 94,708,461 (GRCm39) T340A probably benign Het
Tmeff1 T A 4: 48,604,692 (GRCm39) probably null Het
Vmn2r85 T A 10: 130,255,035 (GRCm39) M550L probably benign Het
Zfp14 A G 7: 29,738,596 (GRCm39) Y130H probably benign Het
Zfp653 A T 9: 21,968,862 (GRCm39) D426E probably benign Het
Zfyve28 G A 5: 34,354,006 (GRCm39) P834L probably damaging Het
Zkscan16 A G 4: 58,957,364 (GRCm39) T549A possibly damaging Het
Other mutations in Krt82
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Krt82 APN 15 101,451,813 (GRCm39) missense probably damaging 0.97
IGL01112:Krt82 APN 15 101,453,958 (GRCm39) missense probably damaging 1.00
IGL01820:Krt82 APN 15 101,451,887 (GRCm39) splice site probably benign
IGL02529:Krt82 APN 15 101,458,831 (GRCm39) nonsense probably null
IGL02894:Krt82 APN 15 101,451,155 (GRCm39) missense probably damaging 1.00
IGL02974:Krt82 APN 15 101,459,020 (GRCm39) nonsense probably null
IGL03263:Krt82 APN 15 101,450,307 (GRCm39) missense probably benign 0.00
R0268:Krt82 UTSW 15 101,450,148 (GRCm39) missense probably benign 0.02
R0385:Krt82 UTSW 15 101,454,028 (GRCm39) missense probably damaging 1.00
R0542:Krt82 UTSW 15 101,454,035 (GRCm39) splice site probably benign
R1073:Krt82 UTSW 15 101,458,689 (GRCm39) missense probably damaging 1.00
R1601:Krt82 UTSW 15 101,453,588 (GRCm39) missense probably damaging 1.00
R1795:Krt82 UTSW 15 101,451,819 (GRCm39) missense possibly damaging 0.90
R1944:Krt82 UTSW 15 101,456,970 (GRCm39) missense probably damaging 1.00
R1974:Krt82 UTSW 15 101,453,597 (GRCm39) missense probably benign 0.00
R2049:Krt82 UTSW 15 101,453,591 (GRCm39) missense probably damaging 0.96
R2140:Krt82 UTSW 15 101,453,591 (GRCm39) missense probably damaging 0.96
R2851:Krt82 UTSW 15 101,456,870 (GRCm39) missense probably damaging 1.00
R2853:Krt82 UTSW 15 101,456,870 (GRCm39) missense probably damaging 1.00
R3815:Krt82 UTSW 15 101,459,035 (GRCm39) missense probably damaging 1.00
R4324:Krt82 UTSW 15 101,450,182 (GRCm39) missense probably benign 0.00
R4798:Krt82 UTSW 15 101,458,923 (GRCm39) missense probably benign 0.01
R4980:Krt82 UTSW 15 101,453,534 (GRCm39) missense possibly damaging 0.85
R5212:Krt82 UTSW 15 101,453,484 (GRCm39) missense probably damaging 1.00
R5260:Krt82 UTSW 15 101,456,823 (GRCm39) missense possibly damaging 0.88
R5821:Krt82 UTSW 15 101,456,820 (GRCm39) nonsense probably null
R6009:Krt82 UTSW 15 101,453,540 (GRCm39) missense probably benign 0.00
R6955:Krt82 UTSW 15 101,451,284 (GRCm39) missense probably damaging 1.00
R7194:Krt82 UTSW 15 101,451,191 (GRCm39) missense probably damaging 1.00
R7307:Krt82 UTSW 15 101,451,342 (GRCm39) missense probably damaging 0.97
R7420:Krt82 UTSW 15 101,454,022 (GRCm39) missense probably damaging 0.96
R7837:Krt82 UTSW 15 101,456,792 (GRCm39) missense possibly damaging 0.86
R8354:Krt82 UTSW 15 101,450,238 (GRCm39) missense probably damaging 1.00
R8371:Krt82 UTSW 15 101,453,546 (GRCm39) missense probably benign 0.12
R8454:Krt82 UTSW 15 101,450,238 (GRCm39) missense probably damaging 1.00
R8692:Krt82 UTSW 15 101,456,828 (GRCm39) missense possibly damaging 0.75
R9111:Krt82 UTSW 15 101,451,786 (GRCm39) missense probably benign 0.01
R9187:Krt82 UTSW 15 101,450,260 (GRCm39) missense probably benign 0.01
R9346:Krt82 UTSW 15 101,458,959 (GRCm39) missense probably benign
R9527:Krt82 UTSW 15 101,454,558 (GRCm39) missense probably benign 0.39
Z1176:Krt82 UTSW 15 101,450,287 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGGATGCCCTGCACTACTC -3'
(R):5'- CATCCCTCTGGGTGTTAGTC -3'

Sequencing Primer
(F):5'- CCCTGCTTTACATGTGAGGAG -3'
(R):5'- TCTCTGCAGAGACCTGGC -3'
Posted On 2014-12-04