Incidental Mutation 'R0385:Krt82'
ID 31258
Institutional Source Beutler Lab
Gene Symbol Krt82
Ensembl Gene ENSMUSG00000049548
Gene Name keratin 82
Synonyms Krt2-20
MMRRC Submission 038591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0385 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101449651-101459094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101454028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 227 (V227M)
Ref Sequence ENSEMBL: ENSMUSP00000023713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023713]
AlphaFold Q99M74
Predicted Effect probably damaging
Transcript: ENSMUST00000023713
AA Change: V227M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: V227M

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: 99.2%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,122,574 (GRCm39) N331S probably benign Het
Adk A G 14: 21,368,142 (GRCm39) N189S probably benign Het
Apc T A 18: 34,448,997 (GRCm39) N1930K probably damaging Het
Arhgap28 T C 17: 68,171,601 (GRCm39) D391G probably damaging Het
Atn1 G T 6: 124,720,334 (GRCm39) probably benign Het
C2cd5 T C 6: 142,987,216 (GRCm39) E471G probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cap2 T C 13: 46,714,023 (GRCm39) L34P probably damaging Het
Cdc42ep2 T A 19: 5,968,553 (GRCm39) M51L probably benign Het
Cntn5 C T 9: 9,972,875 (GRCm39) A254T probably damaging Het
Dicer1 A T 12: 104,670,433 (GRCm39) L1044H probably damaging Het
Dkk3 A C 7: 111,757,430 (GRCm39) M58R probably damaging Het
Dpy19l3 G A 7: 35,452,130 (GRCm39) R5W probably damaging Het
Dsg1c C T 18: 20,416,711 (GRCm39) P871S probably damaging Het
Dusp1 A T 17: 26,726,670 (GRCm39) S131T probably benign Het
Enpp2 C T 15: 54,745,555 (GRCm39) G314R probably damaging Het
Entr1 T C 2: 26,277,671 (GRCm39) E41G possibly damaging Het
Fam222b C A 11: 78,045,756 (GRCm39) P439Q probably benign Het
Fastkd2 A T 1: 63,776,970 (GRCm39) I369F probably benign Het
Fdps G A 3: 89,002,201 (GRCm39) S205F probably damaging Het
Fmo1 A T 1: 162,663,773 (GRCm39) V252E possibly damaging Het
Frmd5 A G 2: 121,386,055 (GRCm39) Y230H probably damaging Het
Gal C T 19: 3,461,171 (GRCm39) V88I probably benign Het
Gnptab T C 10: 88,272,387 (GRCm39) I1009T probably damaging Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Klhdc7a A T 4: 139,694,016 (GRCm39) D310E probably benign Het
Klk4 T C 7: 43,533,432 (GRCm39) M97T probably benign Het
Lpp T C 16: 24,580,587 (GRCm39) V226A probably damaging Het
Mbd1 AGCTGACTCGGTAC A 18: 74,406,312 (GRCm39) probably null Het
Mcm10 T C 2: 5,008,965 (GRCm39) K335E possibly damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myb T C 10: 21,030,611 (GRCm39) D62G possibly damaging Het
Nasp A T 4: 116,467,892 (GRCm39) N364K probably benign Het
Npsr1 A G 9: 24,224,573 (GRCm39) N317D probably damaging Het
Nup210 A G 6: 91,005,777 (GRCm39) V619A possibly damaging Het
Oser1 C T 2: 163,253,316 (GRCm39) probably null Het
Pcdhb4 T C 18: 37,442,268 (GRCm39) F526S probably damaging Het
Plekhh3 T C 11: 101,055,967 (GRCm39) N444S probably damaging Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Pou2f2 G A 7: 24,815,501 (GRCm39) Q89* probably null Het
Ptprb A G 10: 116,186,083 (GRCm39) I1713V probably benign Het
Ptprd A G 4: 76,046,902 (GRCm39) Y442H probably damaging Het
Rad21 A T 15: 51,837,259 (GRCm39) I152N possibly damaging Het
Ralgapa1 A G 12: 55,723,823 (GRCm39) S1568P probably damaging Het
Rhag T A 17: 41,145,618 (GRCm39) V357E probably damaging Het
Rnf121 A T 7: 101,678,324 (GRCm39) D174E possibly damaging Het
Sf3b4 T C 3: 96,080,298 (GRCm39) Y16H probably damaging Het
Slc1a3 C T 15: 8,668,619 (GRCm39) V449I probably damaging Het
Slc20a2 A G 8: 23,058,409 (GRCm39) I648M probably benign Het
Slc25a25 T A 2: 32,307,834 (GRCm39) I254F probably damaging Het
Slit3 A G 11: 35,591,109 (GRCm39) H1307R probably damaging Het
Sorl1 C A 9: 41,943,205 (GRCm39) M890I probably damaging Het
Supt16 A C 14: 52,414,175 (GRCm39) M468R probably benign Het
Taf4b T C 18: 14,916,817 (GRCm39) S56P probably benign Het
Tapt1 T C 5: 44,375,443 (GRCm39) probably null Het
Tmco3 T G 8: 13,346,027 (GRCm39) C288W probably damaging Het
Tpcn2 A G 7: 144,830,911 (GRCm39) Y145H probably damaging Het
Ttn C T 2: 76,712,061 (GRCm39) probably benign Het
Usb1 G T 8: 96,071,946 (GRCm39) W215C probably damaging Het
Usp2 C G 9: 44,004,047 (GRCm39) T305R probably damaging Het
Vmn1r13 G A 6: 57,187,690 (GRCm39) S283N probably benign Het
Vps54 A G 11: 21,256,381 (GRCm39) K467E possibly damaging Het
Wnk2 G T 13: 49,221,604 (GRCm39) S1121Y probably damaging Het
Zbed6 A T 1: 133,584,522 (GRCm39) D938E probably 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
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
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'- CTTCCTGAGTGCATGAGATGTCCC -3'
(R):5'- TGAATCTGCCTTCCCAGGCAAC -3'

Sequencing Primer
(F):5'- ATGAGATGTCCCACTAGTACTTGC -3'
(R):5'- ATAACTGCCGACTTAACCACAGG -3'
Posted On 2013-04-24