Incidental Mutation 'R0639:Krt81'
ID 56964
Institutional Source Beutler Lab
Gene Symbol Krt81
Ensembl Gene ENSMUSG00000067615
Gene Name keratin 81
Synonyms Krt2-19
MMRRC Submission 038828-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0639 (G1)
Quality Score 125
Status Not validated
Chromosome 15
Chromosomal Location 101356942-101361632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101361508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 24 (R24L)
Ref Sequence ENSEMBL: ENSMUSP00000056525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061185]
AlphaFold Q9ERE2
Predicted Effect possibly damaging
Transcript: ENSMUST00000061185
AA Change: R24L

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: R24L

DomainStartEndE-ValueType
Pfam:Keratin_2_head 2 102 5.6e-15 PFAM
Filament 105 416 6.92e-148 SMART
low complexity region 424 438 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230541
Meta Mutation Damage Score 0.1063 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
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 hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik C T 17: 46,043,999 (GRCm39) W86* probably null Het
Acadl T C 1: 66,896,567 (GRCm39) H75R probably benign Het
Adamtsl1 T C 4: 86,195,380 (GRCm39) F599S probably damaging Het
Adrb3 T C 8: 27,718,293 (GRCm39) N52S probably damaging Het
Agbl3 T A 6: 34,776,640 (GRCm39) L377Q probably damaging Het
Akap9 T C 5: 4,110,318 (GRCm39) L3007P probably damaging Het
Amer3 T A 1: 34,626,902 (GRCm39) Y380* probably null Het
Ankrd13d A T 19: 4,323,047 (GRCm39) probably null Het
Ap4m1 T A 5: 138,174,501 (GRCm39) C235S probably benign Het
Arhgap29 T C 3: 121,801,290 (GRCm39) F675S probably damaging Het
Asah2 C A 19: 31,986,039 (GRCm39) V544F probably damaging Het
Ash2l A G 8: 26,313,319 (GRCm39) I389T possibly damaging Het
Bend5 T C 4: 111,290,495 (GRCm39) S164P probably benign Het
Cacna1d A G 14: 29,893,251 (GRCm39) probably null Het
Cdc25b A G 2: 131,039,182 (GRCm39) N516D probably benign Het
Cdc27 A G 11: 104,422,560 (GRCm39) Y125H probably damaging Het
Cdk5r2 C T 1: 74,894,995 (GRCm39) L247F probably damaging Het
Cenpf C A 1: 189,390,259 (GRCm39) G1191V probably benign Het
Cops4 C T 5: 100,685,326 (GRCm39) T293I possibly damaging Het
Csmd3 A G 15: 47,777,336 (GRCm39) L1294P probably damaging Het
Dclre1a T C 19: 56,526,872 (GRCm39) Y848C probably damaging Het
Disp2 A T 2: 118,621,325 (GRCm39) I686F possibly damaging Het
Dnah6 T A 6: 72,999,395 (GRCm39) Y4012F probably benign Het
Dnajc11 C G 4: 152,054,393 (GRCm39) R200G probably damaging Het
Dnhd1 A T 7: 105,345,671 (GRCm39) D2272V possibly damaging Het
Elane A C 10: 79,722,183 (GRCm39) R5S possibly damaging Het
Entpd7 G A 19: 43,679,533 (GRCm39) V29M probably benign Het
Fanca A G 8: 124,016,098 (GRCm39) probably null Het
Fgl1 G T 8: 41,644,661 (GRCm39) T281K probably benign Het
Flii T C 11: 60,613,823 (GRCm39) probably null Het
Foxn1 T C 11: 78,261,970 (GRCm39) D133G possibly damaging Het
Fzd7 T A 1: 59,523,719 (GRCm39) M534K probably damaging Het
Galnt5 A G 2: 57,889,407 (GRCm39) T336A probably benign Het
Gli3 G A 13: 15,899,300 (GRCm39) D896N probably damaging Het
Gsx1 G T 5: 147,126,756 (GRCm39) W193L probably damaging Het
Gtpbp3 A T 8: 71,945,379 (GRCm39) I485F probably damaging Het
H2-M11 A G 17: 36,858,283 (GRCm39) T26A probably benign Het
Igfbp7 T C 5: 77,499,827 (GRCm39) D243G probably damaging Het
Il31ra A T 13: 112,662,377 (GRCm39) D477E possibly damaging Het
Inmt A C 6: 55,148,212 (GRCm39) V139G probably damaging Het
Inpp5j T A 11: 3,451,147 (GRCm39) M501L probably benign Het
Itsn2 T C 12: 4,762,556 (GRCm39) F1579L probably damaging Het
Kat2b C A 17: 53,874,566 (GRCm39) A70E probably benign Het
Klhl20 T C 1: 160,921,281 (GRCm39) E58G probably damaging Het
Krt79 A T 15: 101,839,983 (GRCm39) Y337* probably null Het
Letm1 T C 5: 33,926,770 (GRCm39) I176V possibly damaging Het
Lingo3 C A 10: 80,671,618 (GRCm39) R104L probably benign Het
Lrig3 T G 10: 125,846,090 (GRCm39) C840G probably damaging Het
Lrrc9 A G 12: 72,533,062 (GRCm39) N977S probably damaging Het
Lrrk2 T A 15: 91,657,199 (GRCm39) M1831K probably benign Het
Mn1 A T 5: 111,567,182 (GRCm39) D384V probably damaging Het
Morc3 C A 16: 93,650,738 (GRCm39) H319Q probably damaging Het
Morn1 T C 4: 155,173,960 (GRCm39) F56L possibly damaging Het
Mrpl53 G T 6: 83,086,392 (GRCm39) V64L probably damaging Het
Myo15a T A 11: 60,370,162 (GRCm39) V974D probably benign Het
Neb A G 2: 52,146,136 (GRCm39) V2947A possibly damaging Het
Nfasc A C 1: 132,531,554 (GRCm39) N737K probably damaging Het
Nlk T C 11: 78,463,103 (GRCm39) D464G possibly damaging Het
Nlrc4 C T 17: 74,733,958 (GRCm39) R985K probably benign Het
Nsun6 T C 2: 15,001,147 (GRCm39) K470E probably benign Het
Nup85 T G 11: 115,455,357 (GRCm39) M1R probably null Het
Or8b39 G A 9: 37,996,666 (GRCm39) C178Y probably damaging Het
Otop1 T C 5: 38,445,292 (GRCm39) V150A possibly damaging Het
Pclo C T 5: 14,731,763 (GRCm39) R296* probably null Het
Pdzd2 A T 15: 12,458,144 (GRCm39) C240S possibly damaging Het
Plekhg5 A G 4: 152,198,577 (GRCm39) T922A probably benign Het
Plekhm2 A C 4: 141,369,381 (GRCm39) L101R probably damaging Het
Plscr3 T A 11: 69,738,820 (GRCm39) C161S probably benign Het
Prr14l C T 5: 32,986,259 (GRCm39) D1079N probably benign Het
Ptpru A T 4: 131,498,490 (GRCm39) V1377E possibly damaging Het
Rab37 C A 11: 115,049,528 (GRCm39) D112E probably benign Het
Raet1e T A 10: 22,050,274 (GRCm39) I19N probably damaging Het
Rassf5 T C 1: 131,172,803 (GRCm39) Y22C probably damaging Het
Rp1 T C 1: 4,416,721 (GRCm39) T1464A probably benign Het
Safb T A 17: 56,908,092 (GRCm39) probably benign Het
Scarf2 A G 16: 17,624,369 (GRCm39) probably null Het
Scart2 A G 7: 139,827,872 (GRCm39) N27D probably benign Het
Sh3d19 T C 3: 86,014,280 (GRCm39) S415P probably benign Het
Slc26a9 T A 1: 131,691,542 (GRCm39) L595Q probably damaging Het
Slc4a8 T C 15: 100,694,431 (GRCm39) Y470H probably damaging Het
Slitrk3 T C 3: 72,956,982 (GRCm39) N597D probably benign Het
Spata31 T A 13: 65,070,027 (GRCm39) V725E probably benign Het
Spink12 T A 18: 44,240,831 (GRCm39) C72* probably null Het
Spink5 T A 18: 44,146,042 (GRCm39) probably null Het
Stk40 C A 4: 126,012,125 (GRCm39) S9* probably null Het
Sypl1 A T 12: 33,015,420 (GRCm39) T40S probably damaging Het
Tbc1d8 C T 1: 39,430,290 (GRCm39) E438K probably benign Het
Tdrd7 A G 4: 45,989,102 (GRCm39) T111A probably benign Het
Tg A T 15: 66,613,333 (GRCm39) probably null Het
Tlr5 T A 1: 182,801,454 (GRCm39) W253R probably damaging Het
Tmprss11c C T 5: 86,383,328 (GRCm39) C353Y probably damaging Het
Tnfrsf8 T A 4: 145,014,597 (GRCm39) M271L probably benign Het
Toe1 T C 4: 116,663,947 (GRCm39) N21S probably benign Het
Tpp2 T C 1: 44,014,607 (GRCm39) F649L probably benign Het
Ttll1 G A 15: 83,386,426 (GRCm39) Q60* probably null Het
Vcp C T 4: 42,982,565 (GRCm39) R709Q probably benign Het
Vmn1r119 T A 7: 20,745,593 (GRCm39) H263L possibly damaging Het
Vmn1r195 C A 13: 22,463,111 (GRCm39) Q194K probably damaging Het
Vmn1r33 T C 6: 66,588,783 (GRCm39) Y257C probably damaging Het
Vmn2r15 A G 5: 109,440,881 (GRCm39) F326L probably benign Het
Wbp11 A T 6: 136,793,108 (GRCm39) probably benign Het
Wwp2 T G 8: 108,244,578 (GRCm39) V250G probably benign Het
Xpnpep3 T C 15: 81,315,038 (GRCm39) V246A probably benign Het
Zcchc14 G A 8: 122,332,188 (GRCm39) R419* probably null Het
Other mutations in Krt81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Krt81 APN 15 101,358,159 (GRCm39) missense probably benign 0.01
IGL01012:Krt81 APN 15 101,358,900 (GRCm39) missense probably benign 0.05
IGL01287:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
IGL01304:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
IGL01319:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
IGL01403:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
PIT4508001:Krt81 UTSW 15 101,360,606 (GRCm39) missense probably damaging 1.00
R0083:Krt81 UTSW 15 101,361,346 (GRCm39) missense probably damaging 1.00
R0097:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0099:Krt81 UTSW 15 101,361,402 (GRCm39) nonsense probably null
R0110:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0112:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0196:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0449:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0450:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0482:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0510:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0511:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0512:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0514:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0533:Krt81 UTSW 15 101,359,270 (GRCm39) missense probably benign 0.42
R0674:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0692:Krt81 UTSW 15 101,358,053 (GRCm39) missense possibly damaging 0.91
R0737:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R1458:Krt81 UTSW 15 101,358,198 (GRCm39) missense probably benign 0.34
R1824:Krt81 UTSW 15 101,358,020 (GRCm39) missense probably damaging 0.98
R1991:Krt81 UTSW 15 101,360,435 (GRCm39) missense probably benign 0.01
R2338:Krt81 UTSW 15 101,361,217 (GRCm39) missense probably benign 0.25
R4169:Krt81 UTSW 15 101,359,193 (GRCm39) missense probably benign
R4170:Krt81 UTSW 15 101,359,193 (GRCm39) missense probably benign
R5267:Krt81 UTSW 15 101,357,340 (GRCm39) missense probably benign
R5903:Krt81 UTSW 15 101,358,083 (GRCm39) missense probably damaging 1.00
R6306:Krt81 UTSW 15 101,357,404 (GRCm39) missense probably benign 0.01
R7055:Krt81 UTSW 15 101,359,006 (GRCm39) missense probably benign 0.43
R7069:Krt81 UTSW 15 101,358,609 (GRCm39) missense possibly damaging 0.75
R7191:Krt81 UTSW 15 101,358,110 (GRCm39) missense probably damaging 1.00
R7441:Krt81 UTSW 15 101,359,251 (GRCm39) missense possibly damaging 0.95
R7727:Krt81 UTSW 15 101,357,448 (GRCm39) missense probably damaging 1.00
R7728:Krt81 UTSW 15 101,358,087 (GRCm39) missense probably damaging 1.00
R7733:Krt81 UTSW 15 101,361,395 (GRCm39) missense probably damaging 0.96
R8460:Krt81 UTSW 15 101,361,493 (GRCm39) missense probably damaging 0.98
R9324:Krt81 UTSW 15 101,361,335 (GRCm39) missense probably damaging 0.99
R9597:Krt81 UTSW 15 101,358,919 (GRCm39) missense probably benign 0.06
R9638:Krt81 UTSW 15 101,358,856 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCGATGAAGGCTGCGAACTTGCTG -3'
(R):5'- TGAAGCTGCCATAAATAGGACCCCG -3'

Sequencing Primer
(F):5'- CGAACTTGCTGTTGAGACAC -3'
(R):5'- CCGGTGCCTGGACTAGC -3'
Posted On 2013-07-11