Incidental Mutation 'R8454:Krt82'
ID 654958
Institutional Source Beutler Lab
Gene Symbol Krt82
Ensembl Gene ENSMUSG00000049548
Gene Name keratin 82
Synonyms Krt2-20
MMRRC Submission 067831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R8454 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 101449651-101459094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101450238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 486 (Y486C)
Ref Sequence ENSEMBL: ENSMUSP00000023713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023713]
AlphaFold Q99M74
Predicted Effect probably damaging
Transcript: ENSMUST00000023713
AA Change: Y486C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: Y486C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,635,103 (GRCm39) G300V possibly damaging Het
Adgrg7 C G 16: 56,616,045 (GRCm39) probably benign Het
Agt G A 8: 125,290,842 (GRCm39) T155M probably benign Het
Atp8b3 A G 10: 80,361,633 (GRCm39) V763A probably benign Het
Btn1a1 C A 13: 23,648,420 (GRCm39) V138L probably benign Het
Cd163 A T 6: 124,305,924 (GRCm39) N1109I probably benign Het
Cideb T A 14: 55,992,598 (GRCm39) Q106L possibly damaging Het
Cntn1 A G 15: 92,130,130 (GRCm39) T126A probably benign Het
Dnai3 T C 3: 145,802,982 (GRCm39) K70E probably damaging Het
Elfn1 T C 5: 139,957,226 (GRCm39) Y77H probably damaging Het
Eml3 A G 19: 8,912,358 (GRCm39) H386R probably damaging Het
Fbxo21 A G 5: 118,133,479 (GRCm39) D413G probably damaging Het
Fkbp8 T A 8: 70,984,413 (GRCm39) probably null Het
Fzd1 T C 5: 4,807,336 (GRCm39) Q82R probably benign Het
Gast T C 11: 100,227,394 (GRCm39) L29P probably benign Het
Glb1l2 C A 9: 26,717,713 (GRCm39) probably benign Het
Gm1110 C G 9: 26,794,576 (GRCm39) Q483H probably benign Het
Gm1110 T A 9: 26,794,577 (GRCm39) Q483L probably benign Het
Gpc6 T C 14: 117,163,391 (GRCm39) L15P probably damaging Het
Hagh C A 17: 25,076,536 (GRCm39) S161* probably null Het
Hrh1 A G 6: 114,457,814 (GRCm39) D365G probably benign Het
Ighv1-36 A T 12: 114,843,560 (GRCm39) M100K probably damaging Het
Itgb8 A T 12: 119,134,513 (GRCm39) V518D probably benign Het
Lmbr1l A G 15: 98,810,357 (GRCm39) S85P probably damaging Het
Met A G 6: 17,491,768 (GRCm39) S177G probably damaging Het
Myl9 T A 2: 156,623,048 (GRCm39) I162N possibly damaging Het
Npat T A 9: 53,478,251 (GRCm39) N973K possibly damaging Het
Or5p68 A T 7: 107,945,889 (GRCm39) C100S probably damaging Het
Pcdhga12 A T 18: 37,901,190 (GRCm39) D674V possibly damaging Het
Phtf1 T A 3: 103,911,765 (GRCm39) N702K probably damaging Het
Plaa A T 4: 94,457,714 (GRCm39) I752N probably damaging Het
Pnpla2 T C 7: 141,038,011 (GRCm39) C194R probably damaging Het
Rnaseh2a T C 8: 85,691,776 (GRCm39) N133S probably benign Het
Rps6ka1 T A 4: 133,575,864 (GRCm39) Q685L probably benign Het
Ryr1 C A 7: 28,715,142 (GRCm39) G4661C unknown Het
Samd13 T A 3: 146,352,157 (GRCm39) M65L probably benign Het
Sdr42e2 T A 7: 120,430,403 (GRCm39) V420E possibly damaging Het
Sec22c A G 9: 121,524,721 (GRCm39) S21P probably damaging Het
Sh3d19 C A 3: 86,014,329 (GRCm39) T431K probably benign Het
Sin3b A G 8: 73,468,108 (GRCm39) M277V probably benign Het
Sis T C 3: 72,854,834 (GRCm39) T468A possibly damaging Het
Slitrk3 T C 3: 72,956,513 (GRCm39) N753S probably benign Het
Slitrk6 C A 14: 110,989,478 (GRCm39) L76F probably damaging Het
Stk3 C T 15: 34,876,870 (GRCm39) A478T probably damaging Het
Styxl2 A T 1: 165,935,702 (GRCm39) N165K probably damaging Het
Sugp1 C A 8: 70,524,247 (GRCm39) Y617* probably null Het
Tinag T C 9: 76,938,977 (GRCm39) D167G probably damaging Het
Tk2 A G 8: 104,967,746 (GRCm39) probably null Het
Tmem209 A T 6: 30,489,308 (GRCm39) V514D probably damaging Het
Tmprss9 A G 10: 80,723,320 (GRCm39) H260R probably benign Het
Tnfrsf14 T A 4: 155,011,112 (GRCm39) Y83F possibly damaging Het
Tnfrsf8 A T 4: 145,014,553 (GRCm39) D285E probably benign Het
Togaram2 C G 17: 72,004,873 (GRCm39) A310G probably benign Het
Trpv3 A G 11: 73,182,448 (GRCm39) Y544C probably damaging Het
Ttl T A 2: 128,908,104 (GRCm39) V13D probably damaging Het
Usp40 A T 1: 87,908,694 (GRCm39) D602E probably benign Het
Vamp5 A G 6: 72,347,376 (GRCm39) probably benign Het
Vmn2r65 T A 7: 84,589,402 (GRCm39) H838L possibly damaging Het
Vps35l T A 7: 118,391,795 (GRCm39) F493Y probably benign Het
Zfp960 T A 17: 17,308,461 (GRCm39) Y392N 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
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
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'- CCCAGGGCAATGTGTAGTTG -3'
(R):5'- TCCTTGGAGCCAGGTAGAAG -3'

Sequencing Primer
(F):5'- GGGAAGGGAAGAGTTTTGGAATATTC -3'
(R):5'- TTCAGAGACTGGGATGGCC -3'
Posted On 2020-10-20