Incidental Mutation 'R3815:Krt82'
ID 274268
Institutional Source Beutler Lab
Gene Symbol Krt82
Ensembl Gene ENSMUSG00000049548
Gene Name keratin 82
Synonyms Krt2-20
MMRRC Submission 040770-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R3815 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 101449651-101459094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101459035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 2 (S2P)
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: S2P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: S2P

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 0.1363 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,558,944 (GRCm39) S299P probably damaging Het
Ankrd6 A C 4: 32,806,206 (GRCm39) S618R probably benign Het
Apobec3 G T 15: 79,783,301 (GRCm39) R126M possibly damaging Het
Arl8b T A 6: 108,790,658 (GRCm39) V65D probably damaging Het
AW554918 C T 18: 25,533,104 (GRCm39) R253C probably benign Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Cdca7l G A 12: 117,835,948 (GRCm39) V95I probably damaging Het
Ces1e A G 8: 93,928,467 (GRCm39) probably null Het
Cfap90 A G 13: 68,759,344 (GRCm39) H106R probably damaging Het
Coq5 T G 5: 115,433,957 (GRCm39) F306V probably damaging Het
Cpsf1 A G 15: 76,485,349 (GRCm39) V501A probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cul5 T A 9: 53,534,243 (GRCm39) I630L probably benign Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Dedd A G 1: 171,166,469 (GRCm39) E135G probably benign Het
Ecel1 A G 1: 87,080,622 (GRCm39) F368S probably damaging Het
Ext1 A C 15: 53,208,485 (GRCm39) I92S probably benign Het
Fbxw5 A T 2: 25,393,576 (GRCm39) D268V possibly damaging Het
Flacc1 T G 1: 58,698,164 (GRCm39) N379T probably damaging Het
Gen1 A T 12: 11,302,034 (GRCm39) V192E possibly damaging Het
Gm11077 T G 6: 140,675,041 (GRCm39) V11G unknown Het
Ift88 A T 14: 57,678,438 (GRCm39) E150V possibly damaging Het
Kcna1 T C 6: 126,620,009 (GRCm39) R104G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Luc7l2 T C 6: 38,547,526 (GRCm39) S69P possibly damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Mamstr G T 7: 45,293,956 (GRCm39) R20L probably damaging Het
Nav1 C A 1: 135,398,862 (GRCm39) K573N possibly damaging Het
Or5b104 T C 19: 13,072,277 (GRCm39) H245R probably damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Palld T A 8: 62,002,871 (GRCm39) probably benign Het
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Ppp1r9b A T 11: 94,883,359 (GRCm39) E329V probably damaging Het
Rarres1 T A 3: 67,422,654 (GRCm39) D32V probably benign Het
Rhobtb1 A G 10: 69,121,523 (GRCm39) H53R possibly damaging Het
Ryr1 A T 7: 28,772,327 (GRCm39) S2494T probably damaging Het
Sapcd2 G A 2: 25,263,518 (GRCm39) probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Senp1 A C 15: 97,954,713 (GRCm39) D490E probably damaging Het
Sfrp5 C T 19: 42,187,230 (GRCm39) R280H probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Skint5 G A 4: 113,703,496 (GRCm39) T499I possibly damaging Het
Smad1 G A 8: 80,070,359 (GRCm39) A393V probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Spire1 G T 18: 67,639,733 (GRCm39) T273K probably benign Het
Tep1 T C 14: 51,105,772 (GRCm39) T83A possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttn T A 2: 76,552,077 (GRCm39) R29441* probably null Het
Wdr37 A G 13: 8,903,632 (GRCm39) 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
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'- TGCAGGCAGAAGATCCACAG -3'
(R):5'- ACCCTGTACCTAGCAACTGC -3'

Sequencing Primer
(F):5'- TACCCGAAGCCTGGCATG -3'
(R):5'- TGTACCTAGCAACTGCCAATAC -3'
Posted On 2015-04-02