Incidental Mutation 'R5212:Krt82'
ID 403209
Institutional Source Beutler Lab
Gene Symbol Krt82
Ensembl Gene ENSMUSG00000049548
Gene Name keratin 82
Synonyms Krt2-20
MMRRC Submission 042786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5212 (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 101453484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 301 (S301G)
Ref Sequence ENSEMBL: ENSMUSP00000023713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023713]
AlphaFold Q99M74
Predicted Effect probably damaging
Transcript: ENSMUST00000023713
AA Change: S301G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: S301G

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
Meta Mutation Damage Score 0.4751 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (58/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,771,611 (GRCm39) S267T possibly damaging Het
Abca9 T C 11: 109,998,052 (GRCm39) D1514G probably benign Het
Adamtsl4 T A 3: 95,584,980 (GRCm39) D896V probably damaging Het
Amer2 A G 14: 60,617,269 (GRCm39) Y362C probably damaging Het
Arglu1 T A 8: 8,733,843 (GRCm39) R158W probably damaging Het
Arhgef7 A G 8: 11,778,388 (GRCm39) E46G probably benign Het
Atg2b A G 12: 105,613,055 (GRCm39) V1172A probably benign Het
Bhlhe23 T A 2: 180,417,886 (GRCm39) K217N probably damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Ccp110 C T 7: 118,328,919 (GRCm39) A845V probably damaging Het
Cd63 A G 10: 128,747,722 (GRCm39) Y105C probably damaging Het
Cdk11b T C 4: 155,723,072 (GRCm39) probably null Het
Clip1 T A 5: 123,768,744 (GRCm39) R618S probably benign Het
Crybg1 A T 10: 43,843,739 (GRCm39) F1731L possibly damaging Het
Dock1 A C 7: 134,390,923 (GRCm39) K728Q possibly damaging Het
Emc2 A G 15: 43,374,240 (GRCm39) E180G probably damaging Het
F13b A T 1: 139,440,725 (GRCm39) I394F probably benign Het
Fnta A G 8: 26,499,735 (GRCm39) I155T probably benign Het
Fshr T A 17: 89,293,685 (GRCm39) E331V probably benign Het
Fshr T A 17: 89,293,684 (GRCm39) E331D probably benign Het
Gas2l1 A T 11: 5,011,108 (GRCm39) C574S probably benign Het
Ggnbp2 T A 11: 84,744,847 (GRCm39) probably benign Het
Gm3371 A C 14: 44,641,111 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,016 (GRCm39) probably benign Het
Hand1 A C 11: 57,722,273 (GRCm39) F114V probably damaging Het
Itga4 A C 2: 79,110,939 (GRCm39) H259P probably damaging Het
Jakmip1 A T 5: 37,262,245 (GRCm39) H183L probably benign Het
Kifbp A T 10: 62,398,908 (GRCm39) probably benign Het
Krt8 G T 15: 101,906,402 (GRCm39) A369D possibly damaging Het
Lig3 A G 11: 82,678,504 (GRCm39) T248A probably benign Het
Madcam1 C G 10: 79,504,179 (GRCm39) T255S probably benign Het
Med20 T C 17: 47,929,775 (GRCm39) Y71H probably benign Het
Mtss2 A G 8: 111,455,850 (GRCm39) I107V probably damaging Het
Nans T C 4: 46,502,547 (GRCm39) F328S possibly damaging Het
Ncbp3 A G 11: 72,944,373 (GRCm39) probably benign Het
Nek8 T C 11: 78,063,342 (GRCm39) M1V probably null Het
Nufip1 A T 14: 76,370,538 (GRCm39) N413I possibly damaging Het
Pbx3 T C 2: 34,178,793 (GRCm39) probably benign Het
Plppr3 C T 10: 79,698,279 (GRCm39) G419R probably benign Het
Rfx1 G T 8: 84,793,221 (GRCm39) probably benign Het
Rnpepl1 C T 1: 92,839,045 (GRCm39) A68V probably benign Het
Rsbn1l A T 5: 21,101,212 (GRCm39) M776K probably benign Het
Setd7 A T 3: 51,450,238 (GRCm39) Y63N probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Snap47 T C 11: 59,319,178 (GRCm39) E320G probably damaging Het
Spaca6 C A 17: 18,058,656 (GRCm39) P68Q probably benign Het
Tdrd3 G C 14: 87,743,651 (GRCm39) R527P probably damaging Het
Tmprss2 G T 16: 97,377,492 (GRCm39) Q202K probably benign Het
Tmprss6 A G 15: 78,330,460 (GRCm39) V69A probably damaging Het
Trav6-1 A T 14: 52,876,161 (GRCm39) Q27L probably benign Het
Ttn C T 2: 76,731,957 (GRCm39) probably benign Het
Ttn T C 2: 76,619,945 (GRCm39) I15908V probably benign Het
Ttn T A 2: 76,628,019 (GRCm39) D12931V probably damaging Het
Ush2a T A 1: 188,176,902 (GRCm39) probably null Het
Wls A G 3: 159,578,645 (GRCm39) N69S probably benign 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
R2852: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
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'- AGCAGAGCTGGGATTTCTG -3'
(R):5'- TAGGACATCTGAGTGGGCTC -3'

Sequencing Primer
(F):5'- AGAGCTGGGATTTCTGTGGGTTC -3'
(R):5'- GACATCTGAGTGGGCTCCTCTC -3'
Posted On 2016-07-22